#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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CARD11	84433	hgsc.bcm.edu	37	7	2962846	2962846	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:2962846G>A	ENST00000396946.4	-	16	2465	c.2062C>T	c.(2062-2064)Cga>Tga	p.R688*		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	688	PDZ.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		AAGCTCCCTCGCGCGTTGCCC	0.701			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0			7											42.0	43.0	43.0					7																	2962846		2203	4298	6501	2929372	SO:0001587	stop_gained	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.2062C>T	7.37:g.2962846G>A	ENSP00000380150:p.Arg688*		2929372	A4D1Z7|Q2NKN7|Q548H3	Nonsense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	42	9.286587	0.99125	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	.	.	.	4.89	0.535	0.17133	.	0.309163	0.33217	N	0.005142	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-4.3815	7.4554	0.27264	0.0861:0.0:0.3307:0.5832	.	.	.	.	X	688;159	.	ENSP00000347695:R159X	R	-	1	2	CARD11	2929372	0.769000	0.28531	0.000000	0.03702	0.409000	0.31022	1.841000	0.39240	0.090000	0.17273	0.555000	0.69702	CGA		0.701	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
GRID2IP	392862	hgsc.bcm.edu	37	7	6566374	6566374	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:6566374G>T	ENST00000457091.2	-	3	610	c.611C>A	c.(610-612)gCg>gAg	p.A204E	GRID2IP_ENST00000452113.1_Missense_Mutation_p.A14E|GRID2IP_ENST00000435185.1_Missense_Mutation_p.A21E	NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	204					long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						GTCGAAGCGCGCCCGGTGCTT	0.741																																																	0			7											2.0	3.0	3.0					7																	6566374		503	1246	1749	6532899	SO:0001583	missense	392862				CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.611C>A	7.37:g.6566374G>T	ENSP00000397351:p.Ala204Glu		6532899		Missense_Mutation	SNP	ENST00000457091.2	37	CCDS47537.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.065204	0.36470	.	.	ENSG00000215045	ENST00000452113;ENST00000435185;ENST00000457091	T;T;T	0.37411	1.26;1.25;1.2	4.21	3.16	0.36331	.	0.325105	0.28236	U	0.016083	T	0.23766	0.0575	L	0.27053	0.805	0.30822	N	0.737711	B	0.14438	0.01	B	0.14578	0.011	T	0.14671	-1.0464	10	0.54805	T	0.06	.	8.549	0.33440	0.0:0.0:0.6058:0.3942	.	204	A4D2P6	GRD2I_HUMAN	E	14;21;204	ENSP00000397887:A14E;ENSP00000408364:A21E;ENSP00000397351:A204E	ENSP00000408364:A21E	A	-	2	0	GRID2IP	6532899	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	4.004000	0.57068	2.066000	0.61787	0.505000	0.49811	GCG		0.741	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340534.1	XM_294249	
RSPH10B2	728194	hgsc.bcm.edu	37	7	6805370	6805370	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:6805370T>C	ENST00000403107.1	+	6	994	c.607T>C	c.(607-609)Tgg>Cgg	p.W203R	RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000463354.2_Intron|RSPH10B2_ENST00000433859.2_Missense_Mutation_p.W203R|RSPH10B2_ENST00000297186.3_Missense_Mutation_p.W203R|RSPH10B2_ENST00000404077.1_Missense_Mutation_p.W203R			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	203										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						GGGTACGTGTTGGTACGAGGG	0.428																																																	0			7											26.0	33.0	31.0					7																	6805370		1993	4133	6126	6771895	SO:0001583	missense	728194				CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.607T>C	7.37:g.6805370T>C	ENSP00000384766:p.Trp203Arg		6771895	A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Missense_Mutation	SNP	ENST00000403107.1	37	CCDS43552.1	.	.	.	.	.	.	.	.	.	.	T	17.08	3.298889	0.60195	.	.	ENSG00000169402	ENST00000403107;ENST00000404077;ENST00000297186;ENST00000433859;ENST00000540958	T;T;T;T	0.39229	1.09;1.09;1.09;1.09	3.71	3.71	0.42584	.	0.068657	0.64402	D	0.000007	T	0.30008	0.0751	N	0.02802	-0.49	0.80722	D	1	D	0.67145	0.996	P	0.55667	0.781	T	0.25433	-1.0132	10	0.42905	T	0.14	.	10.5492	0.45079	0.0:0.0:0.0:1.0	.	203	B2RC85	R10B2_HUMAN	R	203;203;203;203;62	ENSP00000384766:W203R;ENSP00000386102:W203R;ENSP00000297186:W203R;ENSP00000416710:W203R	ENSP00000297186:W203R	W	+	1	0	RSPH10B2	6771895	1.000000	0.71417	0.798000	0.32154	0.816000	0.46133	7.049000	0.76613	1.563000	0.49615	0.314000	0.21332	TGG		0.428	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697	
NACAD	23148	hgsc.bcm.edu	37	7	45125190	45125190	+	Missense_Mutation	SNP	C	C	T	rs372371122		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:45125190C>T	ENST00000490531.2	-	2	608	c.589G>A	c.(589-591)Gcc>Acc	p.A197T		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	197					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						GAGTCCCTGGCGTCCCCGTGG	0.682																																																	0			7											11.0	15.0	14.0					7																	45125190		692	1587	2279	45091715	SO:0001583	missense	23148			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.589G>A	7.37:g.45125190C>T	ENSP00000420477:p.Ala197Thr		45091715		Missense_Mutation	SNP	ENST00000490531.2	37	CCDS47582.1	.	.	.	.	.	.	.	.	.	.	c	2.136	-0.398003	0.04865	.	.	ENSG00000136274	ENST00000490531	T	0.18016	2.24	3.5	-2.22	0.06952	.	3.222500	0.01250	N	0.008871	T	0.11793	0.0287	N	0.24115	0.695	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.32214	-0.9915	10	0.56958	D	0.05	-1.5872	4.8017	0.13299	0.0:0.3544:0.2475:0.3981	.	197	O15069	NACAD_HUMAN	T	197	ENSP00000420477:A197T	ENSP00000420477:A197T	A	-	1	0	NACAD	45091715	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.992000	0.01476	-0.318000	0.08665	-0.389000	0.06534	GCC		0.682	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
PSPH	5723	hgsc.bcm.edu	37	7	56088902	56088902	+	Missense_Mutation	SNP	C	C	T	rs77329757	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:56088902C>T	ENST00000395471.3	-	4	809	c.4G>A	c.(4-6)Gtc>Atc	p.V2I	PSPH_ENST00000275605.3_Missense_Mutation_p.V2I|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	2				V -> I (in Ref. 1; CAA71318). {ECO:0000305}.	cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GAGTGGGAGACCATCGCTGGA	0.403																																																	0			7											59.0	49.0	53.0					7																	56088902		2203	4300	6503	56056396	SO:0001583	missense	5723			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.4G>A	7.37:g.56088902C>T	ENSP00000378854:p.Val2Ile		56056396	B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870338	0.33069	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626;ENST00000419984;ENST00000421312;ENST00000424596;ENST00000413218;ENST00000416592	D;D;D;T;T	0.82619	-1.63;-1.63;-1.63;-1.11;-1.11	5.5	4.62	0.57501	.	0.498508	0.22451	N	0.059892	T	0.76586	0.4008	L	0.43152	1.355	0.25991	N	0.982243	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.004	T	0.62821	-0.6773	10	0.26408	T	0.33	-18.3475	13.3091	0.60370	0.0:0.9237:0.0:0.0763	.	2;2	Q53EY1;P78330	.;SERB_HUMAN	I	2	ENSP00000275605:V2I;ENSP00000378854:V2I;ENSP00000398653:V2I;ENSP00000399660:V2I;ENSP00000390952:V2I	ENSP00000275605:V2I	V	-	1	0	PSPH	56056396	1.000000	0.71417	1.000000	0.80357	0.681000	0.39784	1.602000	0.36783	1.325000	0.45301	0.591000	0.81541	GTC		0.403	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577	
ZNF138	7697	hgsc.bcm.edu	37	7	64292097	64292097	+	Silent	SNP	A	A	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:64292097A>C	ENST00000359735.3	+	4	653	c.306A>C	c.(304-306)atA>atC	p.I102I	ZNF138_ENST00000440155.2_Silent_p.I133I|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000397136.2_Silent_p.I102I|ZNF138_ENST00000307355.7_Silent_p.I159I|ZNF138_ENST00000494380.1_3'UTR|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000437743.1_Silent_p.I127I	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	P52744	ZN138_HUMAN	zinc finger protein 138	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				GACACAAGATAAGACATACTG	0.274																																																	0			7											41.0	43.0	42.0					7																	64292097		2202	4294	6496	63929532	SO:0001819	synonymous_variant	7697			U09847	CCDS34645.1, CCDS34645.2, CCDS55115.1, CCDS64659.1, CCDS64660.1, CCDS64661.1, CCDS75607.1	7q11.21	2013-01-08	2005-07-11		ENSG00000197008	ENSG00000197008		"""Zinc fingers, C2H2-type"", ""-"""	12922	protein-coding gene	gene with protein product		604080	"""zinc finger protein 138 (clone pHZ-32)"""				Standard	NM_006524		Approved	pHZ-32	uc031sxl.1	P52744	OTTHUMG00000156603	ENST00000359735.3:c.306A>C	7.37:g.64292097A>C			63929532	B4DFX2|B4DP87|E9PHI7|E9PHK7	Silent	SNP	ENST00000359735.3	37																																																																																					0.274	ZNF138-201	KNOWN	basic	protein_coding	protein_coding		NM_006524	
RHBDD2	57414	hgsc.bcm.edu	37	7	75511480	75511480	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:75511480T>C	ENST00000006777.6	+	2	647	c.512T>C	c.(511-513)cTg>cCg	p.L171P	RHBDD2_ENST00000318622.4_Missense_Mutation_p.L30P|RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Missense_Mutation_p.L30P	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	171						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						CCGTGGCTCCTGCTGGGTGCC	0.607																																																	0			7											53.0	55.0	54.0					7																	75511480		2117	4237	6354	75349416	SO:0001583	missense	57414			AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.512T>C	7.37:g.75511480T>C	ENSP00000006777:p.Leu171Pro		75349416	Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	Missense_Mutation	SNP	ENST00000006777.6	37	CCDS43602.1	.	.	.	.	.	.	.	.	.	.	T	17.42	3.386247	0.61956	.	.	ENSG00000005486	ENST00000006777;ENST00000413229;ENST00000318622;ENST00000428119	T;T;T	0.13538	2.58;2.58;2.58	5.51	5.51	0.81932	Peptidase S54, rhomboid domain (1);	0.334072	0.25135	N	0.032871	T	0.28764	0.0713	L	0.42245	1.32	0.58432	D	0.999997	D	0.89917	1.0	D	0.77004	0.989	T	0.01330	-1.1383	10	0.87932	D	0	-8.0455	12.0282	0.53384	0.0:0.0:0.1438:0.8562	.	171	Q6NTF9	RHBD2_HUMAN	P	171;216;30;30	ENSP00000006777:L171P;ENSP00000314144:L30P;ENSP00000391232:L30P	ENSP00000006777:L171P	L	+	2	0	RHBDD2	75349416	0.998000	0.40836	0.994000	0.49952	0.526000	0.34562	3.705000	0.54823	2.093000	0.63338	0.528000	0.53228	CTG		0.607	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1	NM_020684	
PEX1	5189	hgsc.bcm.edu	37	7	92123679	92123679	+	Silent	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:92123679A>G	ENST00000248633.4	-	19	3053	c.2958T>C	c.(2956-2958)ccT>ccC	p.P986P	PEX1_ENST00000438045.1_Silent_p.P664P|PEX1_ENST00000428214.1_Silent_p.P929P|AC007566.10_ENST00000441539.1_RNA|AC007566.10_ENST00000427458.1_RNA	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	986					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CAATCAAGTCAGGGCGACTAG	0.383																																																	0			7											65.0	65.0	65.0					7																	92123679		2203	4300	6503	91961615	SO:0001819	synonymous_variant	5189			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2958T>C	7.37:g.92123679A>G			91961615	A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Silent	SNP	ENST00000248633.4	37	CCDS5627.1																																																																																				0.383	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466	
PSMC2	5701	hgsc.bcm.edu	37	7	103004631	103004631	+	Silent	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:103004631C>T	ENST00000435765.1	+	9	1044	c.633C>T	c.(631-633)ggC>ggT	p.G211G	SLC26A5_ENST00000339444.6_Intron|PSMC2_ENST00000292644.3_Silent_p.G211G|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Silent_p.G74G|SLC26A5_ENST00000393735.2_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	211					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						CTCCCAAGGGCGTGCTGCTCT	0.493																																																	0			7											107.0	93.0	98.0					7																	103004631		2203	4300	6503	102791867	SO:0001819	synonymous_variant	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.633C>T	7.37:g.103004631C>T			102791867	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	CCDS5731.1																																																																																				0.493	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	NM_002803	
KCND2	3751	hgsc.bcm.edu	37	7	120385963	120385963	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:120385963C>T	ENST00000331113.4	+	5	2562	c.1597C>T	c.(1597-1599)Cga>Tga	p.R533*	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	533					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.R533*(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTGTTCACGACGACACAAAAA	0.448																																																	2	Substitution - Nonsense(2)	large_intestine(1)|central_nervous_system(1)	7											150.0	123.0	132.0					7																	120385963		2203	4300	6503	120173199	SO:0001587	stop_gained	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1597C>T	7.37:g.120385963C>T	ENSP00000333496:p.Arg533*		120173199	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Nonsense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582337	0.65992	.	.	ENSG00000184408	ENST00000331113	.	.	.	6.06	0.749	0.18381	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8473	0.92212	0.7067:0.2933:0.0:0.0	.	.	.	.	X	533	.	.	R	+	1	2	KCND2	120173199	0.012000	0.17670	0.942000	0.38095	0.975000	0.68041	0.143000	0.16115	0.107000	0.17824	-0.791000	0.03333	CGA		0.448	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
SSPO	23145	hgsc.bcm.edu	37	7	149484798	149484798	+	RNA	SNP	C	C	T	rs62490656	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:149484798C>T	ENST00000378016.2	+	0	3620							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCTGTGGGGCGCTGCTGCAG	0.667													C|||	832	0.166134	0.0234	0.2147	5008	,	,		16879	0.1518		0.2495	False		,,,				2504	0.2536																0			7						C		177,3887		1,175,1856	7.0	10.0	9.0		3624	-2.7	0.0	7	dbSNP_129	9	1883,6435		211,1461,2487	no	coding-notMod3	SSPO	NM_198455.2		212,1636,4343	TT,TC,CC		22.6377,4.3553,16.6371			149484798	2060,10322	2032	4159	6191	149115731			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149484798C>T			149115731	Q76B61	Silent	SNP	ENST00000378016.2	37																																																																																					0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript			
DPP6	1804	hgsc.bcm.edu	37	7	154002599	154002599	+	Intron	SNP	C	C	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:154002599C>A	ENST00000377770.3	+	2	384				DPP6_ENST00000332007.3_Missense_Mutation_p.P7Q|DPP6_ENST00000406326.1_Intron|DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Missense_Mutation_p.P7Q			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GCCAAGGAGCCAAGCGCTTCG	0.617																																					NSCLC(125;1384 1783 2490 7422 34254)												0			7											53.0	59.0	57.0					7																	154002599		1568	3579	5147	153633532	SO:0001627	intron_variant	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.244-140700C>A	7.37:g.154002599C>A			153633532		Missense_Mutation	SNP	ENST00000377770.3	37		.	.	.	.	.	.	.	.	.	.	C	11.25	1.581922	0.28180	.	.	ENSG00000130226	ENST00000332007;ENST00000427557	T;T	0.13307	2.6;2.6	5.01	4.03	0.46877	.	.	.	.	.	T	0.11153	0.0272	.	.	.	0.23787	N	0.996849	B;B;B	0.14805	0.0;0.011;0.0	B;B;B	0.14023	0.0;0.01;0.003	T	0.21655	-1.0239	8	0.44086	T	0.13	.	9.8419	0.41004	0.5797:0.4203:0.0:0.0	.	7;7;7	E9PDL2;B7Z1K3;P42658-2	.;.;.	Q	7	ENSP00000328226:P7Q;ENSP00000397303:P7Q	ENSP00000328226:P7Q	P	+	2	0	DPP6	153633532	0.941000	0.31946	0.508000	0.27688	0.802000	0.45316	3.145000	0.50623	1.007000	0.39238	0.462000	0.41574	CCA		0.617	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1	NM_130797	
HTR5A	3361	hgsc.bcm.edu	37	7	154863299	154863299	+	Silent	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr7:154863299C>T	ENST00000287907.2	+	1	1266	c.690C>T	c.(688-690)cgC>cgT	p.R230R	HTR5A-AS1_ENST00000543018.1_5'Flank|HTR5A-AS1_ENST00000493904.1_5'Flank|HTR5A-AS1_ENST00000395731.2_5'Flank	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	230					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	CCAAGTTCCGCGTGGGCTCCA	0.542																																																	0			7											78.0	74.0	75.0					7																	154863299		2203	4300	6503	154494232	SO:0001819	synonymous_variant	3361				CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.690C>T	7.37:g.154863299C>T			154494232	Q2M2D2	Silent	SNP	ENST00000287907.2	37	CCDS5936.1																																																																																				0.542	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012	
PAK7	57144	hgsc.bcm.edu	37	20	9561106	9561106	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr20:9561106A>G	ENST00000378429.3	-	5	1222	c.676T>C	c.(676-678)Tcc>Ccc	p.S226P	RP5-986I17.2_ENST00000428769.1_RNA|PAK7_ENST00000353224.5_Missense_Mutation_p.S226P|PAK7_ENST00000378423.1_Missense_Mutation_p.S226P	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	226	Linker.|Poly-Ser.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TCCAGAGGGGAGCTACTCGAG	0.502																																																	0			20											69.0	67.0	68.0					20																	9561106		2203	4300	6503	9509106	SO:0001583	missense	57144			AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.676T>C	20.37:g.9561106A>G	ENSP00000367686:p.Ser226Pro		9509106	A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Missense_Mutation	SNP	ENST00000378429.3	37	CCDS13107.1	.	.	.	.	.	.	.	.	.	.	A	17.62	3.435186	0.62955	.	.	ENSG00000101349	ENST00000378429;ENST00000353224;ENST00000378423;ENST00000439520	T;T;T	0.29655	1.56;1.56;1.56	5.55	4.46	0.54185	.	0.279884	0.41605	N	0.000842	T	0.30885	0.0779	L	0.50333	1.59	0.40647	D	0.982006	P;P	0.48911	0.838;0.917	B;B	0.44315	0.367;0.446	T	0.04900	-1.0919	9	.	.	.	.	11.3927	0.49824	0.9294:0.0:0.0706:0.0	.	226;226	B0AZM9;Q9P286	.;PAK7_HUMAN	P	226;226;226;174	ENSP00000367686:S226P;ENSP00000322957:S226P;ENSP00000367679:S226P	.	S	-	1	0	PAK7	9509106	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.514000	0.73746	0.960000	0.38005	0.445000	0.29226	TCC		0.502	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1		
TRPC4AP	26133	hgsc.bcm.edu	37	20	33589110	33589110	+	IGR	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr20:33589110C>T	ENST00000252015.2	-	0	3226				MYH7B_ENST00000262873.7_Silent_p.G1888G			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCCTTAAGGGCGTGCGCAAGC	0.667																																																	0			20											31.0	40.0	37.0					20																	33589110		2122	4241	6363	33052771	SO:0001628	intergenic_variant	57644			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319		20.37:g.33589110C>T			33052771	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Silent	SNP	ENST00000252015.2	37	CCDS13246.1																																																																																				0.667	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638	
TAF4	6874	hgsc.bcm.edu	37	20	60585127	60585127	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr20:60585127G>A	ENST00000252996.4	-	4	1735	c.1736C>T	c.(1735-1737)gCg>gTg	p.A579V	TAF4_ENST00000609045.1_5'UTR	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	579					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGTGGTGGTCGCCCCTGGTAC	0.627																																																	0			20											94.0	75.0	81.0					20																	60585127		2203	4300	6503	60018522	SO:0001583	missense	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1736C>T	20.37:g.60585127G>A	ENSP00000252996:p.Ala579Val		60018522	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.865921	0.32977	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.27557	1.69;1.66	4.8	3.83	0.44106	.	0.769933	0.12453	N	0.467551	T	0.24084	0.0583	L	0.46157	1.445	0.44685	D	0.997672	P	0.44946	0.846	B	0.29353	0.101	T	0.06625	-1.0816	10	0.36615	T	0.2	-2.3747	14.8203	0.70068	0.0:0.1453:0.8547:0.0	.	579	O00268	TAF4_HUMAN	V	579;443	ENSP00000252996:A579V;ENSP00000399091:A443V	ENSP00000252996:A579V	A	-	2	0	TAF4	60018522	1.000000	0.71417	0.809000	0.32408	0.060000	0.15804	5.045000	0.64220	0.989000	0.38761	0.313000	0.20887	GCG		0.627	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185	
SRMS	6725	hgsc.bcm.edu	37	20	62178671	62178671	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr20:62178671C>A	ENST00000217188.1	-	1	186	c.146G>T	c.(145-147)tGc>tTc	p.C49F		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	49	N-terminal.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GAAGGGGCTGCAAGGCTCGGC	0.701																																																	0			20											162.0	163.0	162.0					20																	62178671		2184	4254	6438	61649115	SO:0001583	missense	6725				CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.146G>T	20.37:g.62178671C>A	ENSP00000217188:p.Cys49Phe		61649115		Missense_Mutation	SNP	ENST00000217188.1	37	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	2.442	-0.328477	0.05314	.	.	ENSG00000125508	ENST00000217188	T	0.40476	1.03	3.62	3.62	0.41486	.	1.940240	0.02556	N	0.096157	T	0.39200	0.1069	L	0.33339	1.005	0.21064	N	0.999793	B	0.02656	0.0	B	0.01281	0.0	T	0.29912	-0.9996	10	0.56958	D	0.05	.	11.6539	0.51306	0.1782:0.8218:0.0:0.0	.	49	Q9H3Y6	SRMS_HUMAN	F	49	ENSP00000217188:C49F	ENSP00000217188:C49F	C	-	2	0	SRMS	61649115	0.047000	0.20315	0.034000	0.17996	0.097000	0.18754	2.689000	0.46993	1.722000	0.51474	0.436000	0.28706	TGC		0.701	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823	
ADRBK2	157	hgsc.bcm.edu	37	22	26057588	26057588	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr22:26057588A>G	ENST00000324198.6	+	4	502	c.310A>G	c.(310-312)Aga>Gga	p.R104G		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	104	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.		R -> K (in a lung bronchoalveolar carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CCGCCTTTGCAGAAGTCGACA	0.333																																																	0			22											149.0	128.0	135.0					22																	26057588		2203	4300	6503	24387588	SO:0001583	missense	157			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.310A>G	22.37:g.26057588A>G	ENSP00000317578:p.Arg104Gly		24387588	Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	A	4.803	0.149335	0.09185	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.01981	4.52	5.93	-0.622	0.11560	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.054895	0.64402	D	0.000002	T	0.03095	0.0091	L	0.44542	1.39	0.22601	N	0.998946	B;B	0.22276	0.067;0.036	B;B	0.32928	0.079;0.155	T	0.38802	-0.9644	10	0.25751	T	0.34	-24.8877	14.9226	0.70851	0.3343:0.6657:0.0:0.0	.	104;104	A8K869;P35626	.;ARBK2_HUMAN	G	104	ENSP00000317578:R104G	ENSP00000317578:R104G	R	+	1	2	ADRBK2	24387588	0.114000	0.22134	0.003000	0.11579	0.344000	0.29017	0.503000	0.22610	-0.488000	0.06726	0.533000	0.62120	AGA		0.333	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160	
COCH	1690	hgsc.bcm.edu	37	14	31354666	31354666	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr14:31354666C>T	ENST00000396618.3	+	10	856	c.800C>T	c.(799-801)cCc>cTc	p.P267L	RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.P267L|COCH_ENST00000216361.4_Missense_Mutation_p.P267L|COCH_ENST00000382493.4_Missense_Mutation_p.P118L|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000460581.2_Missense_Mutation_p.P155L|RP11-829H16.3_ENST00000555421.1_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	267	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AAAGGGATCCCCAAAGTGGTG	0.408																																																	0			14											150.0	138.0	142.0					14																	31354666		2203	4300	6503	30424417	SO:0001583	missense	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.800C>T	14.37:g.31354666C>T	ENSP00000379862:p.Pro267Leu		30424417	A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.982333|3.982333	0.74474|0.74474	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000555881;ENST00000460581;ENST00000542225;ENST00000382493|ENST00000468826	D;D;D;D;D;D|D	0.84516|0.83837	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86|-1.77	5.6|5.6	5.6|5.6	0.85130|0.85130	von Willebrand factor, type A (3);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.91294|0.91294	0.7255|0.7255	M|M	0.83692|0.83692	2.655|2.655	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.999;0.999|.	D;D;D|.	0.97110|.	1.0;0.951;0.951|.	D|D	0.91086|0.91086	0.4903|0.4903	10|7	0.87932|.	D|.	0|.	-10.9833|-10.9833	19.6182|19.6182	0.95643|0.95643	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	118;267;267|.	E7EN67;Q96IU6;O43405|.	.;.;COCH_HUMAN|.	L|S	267;267;267;149;155;155;118|151	ENSP00000216361:P267L;ENSP00000379862:P267L;ENSP00000451528:P267L;ENSP00000452569:P149L;ENSP00000451713:P155L;ENSP00000371933:P118L|ENSP00000452284:P151S	ENSP00000216361:P267L|.	P|P	+|+	2|1	0|0	COCH|COCH	30424417|30424417	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.607000|5.607000	0.67648|0.67648	2.626000|2.626000	0.88956|0.88956	0.650000|0.650000	0.86243|0.86243	CCC|CCA		0.408	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086	
LRFN5	145581	hgsc.bcm.edu	37	14	42356016	42356016	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr14:42356016T>C	ENST00000298119.4	+	3	1377	c.188T>C	c.(187-189)gTt>gCt	p.V63A	LRFN5_ENST00000554171.1_Missense_Mutation_p.V63A|LRFN5_ENST00000554120.1_Missense_Mutation_p.V63A	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	63						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GACAATTTTGTTACAAATATT	0.393										HNSCC(30;0.082)																																							0			14											52.0	50.0	51.0					14																	42356016		2203	4300	6503	41425766	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.188T>C	14.37:g.42356016T>C	ENSP00000298119:p.Val63Ala		41425766	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.499503	0.64298	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	T;T;T	0.53640	0.61;0.61;0.61	5.56	5.56	0.83823	.	0.000000	0.50627	D	0.000104	T	0.56558	0.1993	L	0.49126	1.545	0.58432	D	0.999996	P;P	0.42584	0.504;0.784	B;P	0.52343	0.356;0.696	T	0.59768	-0.7392	10	0.87932	D	0	.	13.6661	0.62396	0.0:0.0:0.0:1.0	.	63;63	G3V364;Q96NI6	.;LRFN5_HUMAN	A	63	ENSP00000298119:V63A;ENSP00000451897:V63A;ENSP00000451067:V63A	ENSP00000298119:V63A	V	+	2	0	LRFN5	41425766	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.040000	0.89188	2.098000	0.63641	0.528000	0.53228	GTT		0.393	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
KIAA0586	9786	hgsc.bcm.edu	37	14	58909440	58909440	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr14:58909440G>C	ENST00000556134.1	+	6	656	c.382G>C	c.(382-384)Gtt>Ctt	p.V128L	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.V143L|KIAA0586_ENST00000354386.6_Missense_Mutation_p.V196L|KIAA0586_ENST00000423743.3_Missense_Mutation_p.V99L|Y_RNA_ENST00000516389.1_RNA	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	128					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCATGCCTGTTTTTAAGGA	0.348																																																	0			14											40.0	38.0	39.0					14																	58909440		1836	4098	5934	57979193	SO:0001583	missense	9786			AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.382G>C	14.37:g.58909440G>C	ENSP00000452351:p.Val128Leu		57979193	B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500661	0.64298	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000554463;ENST00000555833;ENST00000261244;ENST00000546216	T;T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52;0.52	5.22	2.35	0.29111	.	0.672504	0.14027	N	0.346399	T	0.64670	0.2619	L	0.59436	1.845	0.29149	N	0.878496	B;B;D;D;B;B	0.76494	0.356;0.356;0.999;0.959;0.356;0.356	B;B;D;D;B;B	0.67103	0.127;0.127;0.944;0.949;0.127;0.127	T	0.58544	-0.7618	10	0.72032	D	0.01	.	9.9295	0.41514	0.2176:0.0:0.7824:0.0	.	3;3;196;143;128;99	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	L	196;128;99;58;58;143;3	ENSP00000346359:V196L;ENSP00000452351:V128L;ENSP00000399427:V99L;ENSP00000451831:V58L;ENSP00000450855:V58L;ENSP00000261244:V143L	ENSP00000261244:V143L	V	+	1	0	KIAA0586	57979193	1.000000	0.71417	0.991000	0.47740	0.876000	0.50452	1.603000	0.36794	0.701000	0.31803	0.563000	0.77884	GTT		0.348	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749	
WDR25	79446	hgsc.bcm.edu	37	14	100848014	100848014	+	Silent	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr14:100848014C>T	ENST00000335290.6	+	2	979	c.753C>T	c.(751-753)acC>acT	p.T251T	WDR25_ENST00000402312.3_Silent_p.T251T|WDR25_ENST00000554998.1_Silent_p.T251T|WDR25_ENST00000542471.2_5'Flank|WDR25_ENST00000554175.1_Silent_p.T251T	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	251										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CTGTCAACACCATTCAGTGGT	0.438																																																	0			14											53.0	51.0	51.0					14																	100848014		2203	4300	6503	99917767	SO:0001819	synonymous_variant	79446			BC007953	CCDS32157.1	14q32.32	2013-01-09				ENSG00000176473		"""WD repeat domain containing"""	21064	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 67"""	C14orf67		15587985	Standard	NM_001161476		Approved	MGC4645	uc001yhn.3	Q64LD2		ENST00000335290.6:c.753C>T	14.37:g.100848014C>T			99917767	A8K7E5|Q6NVV6|Q86TQ4|Q9BTK5	Silent	SNP	ENST00000335290.6	37	CCDS32157.1																																																																																				0.438	WDR25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414312.1	NM_024515	
APC2	10297	hgsc.bcm.edu	37	19	1455453	1455453	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr19:1455453T>C	ENST00000535453.1	+	5	2306	c.593T>C	c.(592-594)aTg>aCg	p.M198T	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.M198T|APC2_ENST00000238483.4_Intron			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCTCGCTGATGGAGGAGCGC	0.711																																																	0			19											18.0	16.0	16.0					19																	1455453		2189	4292	6481	1406453	SO:0001583	missense	79085				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.593T>C	19.37:g.1455453T>C	ENSP00000442954:p.Met198Thr		1406453	C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.666417	0.88251	.	.	ENSG00000115266	ENST00000233607;ENST00000535453	D;D	0.90261	-2.64;-2.64	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	D	0.92890	0.7738	L	0.59436	1.845	0.80722	D	1	D;D	0.64830	0.993;0.994	P;D	0.65233	0.89;0.933	D	0.92886	0.6327	10	0.59425	D	0.04	-24.0879	11.4019	0.49875	0.0:0.0:0.0:1.0	.	197;198	O95996-3;O95996	.;APC2_HUMAN	T	198	ENSP00000233607:M198T;ENSP00000442954:M198T	ENSP00000233607:M198T	M	+	2	0	APC2	1406453	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.590000	0.82653	1.585000	0.49928	0.402000	0.26972	ATG		0.711	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2	NM_005883	
CREB3L3	84699	hgsc.bcm.edu	37	19	4157245	4157245	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr19:4157245C>T	ENST00000078445.2	+	3	557	c.410C>T	c.(409-411)cCa>cTa	p.P137L	CREB3L3_ENST00000595923.1_Missense_Mutation_p.P136L|CREB3L3_ENST00000602147.1_Missense_Mutation_p.P137L|CREB3L3_ENST00000602257.1_Missense_Mutation_p.P137L|CREB3L3_ENST00000252587.3_Missense_Mutation_p.P127L	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	137					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCACAACCCCAGGGCCAGTG	0.642																																																	0			19											89.0	93.0	92.0					19																	4157245		2203	4300	6503	4108245	SO:0001583	missense	84699				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.410C>T	19.37:g.4157245C>T	ENSP00000078445:p.Pro137Leu		4108245	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	ENST00000078445.2	37	CCDS12121.1	.	.	.	.	.	.	.	.	.	.	C	6.387	0.439565	0.12104	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	D;D	0.85171	-1.95;-1.95	4.75	0.915	0.19366	.	1.188910	0.06356	N	0.710757	T	0.73225	0.3560	N	0.21142	0.635	0.09310	N	1	B;B;B;B	0.13594	0.008;0.0;0.004;0.002	B;B;B;B	0.13407	0.009;0.001;0.004;0.002	T	0.57877	-0.7735	10	0.36615	T	0.2	.	3.4033	0.07331	0.2403:0.5142:0.0:0.2455	.	137;137;136;137	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	L	137;137;127	ENSP00000078445:P137L;ENSP00000252587:P127L	ENSP00000078445:P137L	P	+	2	0	CREB3L3	4108245	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-0.760000	0.04756	0.361000	0.24292	0.537000	0.68136	CCA		0.642	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1	NM_032607	
MUC16	94025	hgsc.bcm.edu	37	19	9066159	9066159	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr19:9066159A>G	ENST00000397910.4	-	3	21490	c.21287T>C	c.(21286-21288)cTc>cCc	p.L7096P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7098	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CAGGGAAGGGAGAGAGCTGGG	0.507																																																	0			19											131.0	134.0	133.0					19																	9066159		2032	4174	6206	8927159	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.21287T>C	19.37:g.9066159A>G	ENSP00000381008:p.Leu7096Pro		8927159	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	3.023	-0.201385	0.06219	.	.	ENSG00000181143	ENST00000397910	T	0.22134	1.97	2.32	-3.99	0.04069	.	.	.	.	.	T	0.06188	0.0160	N	0.02247	-0.625	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.29518	-1.0009	8	0.87932	D	0	.	0.571	0.00695	0.2502:0.3474:0.206:0.1964	.	7096	B5ME49	.	P	7096	ENSP00000381008:L7096P	ENSP00000381008:L7096P	L	-	2	0	MUC16	8927159	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.379000	0.07437	-0.909000	0.03852	0.330000	0.21533	CTC		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu	37	19	9090251	9090251	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr19:9090251C>T	ENST00000397910.4	-	1	1767	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	522	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGTGCTTTCACTGGTCCAT	0.552																																																	0			19											97.0	95.0	96.0					19																	9090251		2114	4243	6357	8951251	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.1564G>A	19.37:g.9090251C>T	ENSP00000381008:p.Glu522Lys		8951251	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	9.220	1.033103	0.19590	.	.	ENSG00000181143	ENST00000397910	T	0.02682	4.2	1.45	-1.43	0.08884	.	.	.	.	.	T	0.01387	0.0045	N	0.08118	0	.	.	.	P	0.34977	0.478	B	0.28916	0.096	T	0.45556	-0.9253	8	0.87932	D	0	.	3.2232	0.06723	0.2989:0.4052:0.2959:0.0	.	522	B5ME49	.	K	522	ENSP00000381008:E522K	ENSP00000381008:E522K	E	-	1	0	MUC16	8951251	0.000000	0.05858	0.000000	0.03702	0.582000	0.36321	-1.446000	0.02398	-0.300000	0.08895	0.313000	0.20887	GAA		0.552	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
AD000091.2	0	hgsc.bcm.edu	37	19	15726480	15726480	+	lincRNA	SNP	C	C	T	rs141696823	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr19:15726480C>T	ENST00000589196.2	-	0	0				CYP4F8_ENST00000441682.2_RNA																							GCAGCATCCCCGTGGCTGCTC	0.672													.|||	15	0.00299521	0.0098	0.0029	5008	,	,		15807	0.0		0.0	False		,,,				2504	0.0																0			19						C	LEU/PRO	47,4357		0,47,2155	27.0	30.0	29.0		53	1.5	0.0	19	dbSNP_134	29	1,8593		0,1,4296	no	missense	CYP4F8	NM_007253.3	98	0,48,6451	TT,TC,CC		0.0116,1.0672,0.3693	benign	18/521	15726480	48,12950	2202	4297	6499	15587480			11283																															19.37:g.15726480C>T			15587480		Missense_Mutation	SNP	ENST00000589196.2	37		10	0.004578754578754579	8	0.016260162601626018	2	0.0055248618784530384	0	0.0	0	0.0	c	7.409	0.634286	0.14322	0.010672	1.16E-4	ENSG00000186526	ENST00000441682	.	.	.	2.49	1.45	0.22620	.	0.745300	0.11642	U	0.543682	T	0.39733	0.1089	.	.	.	.	.	.	D;B	0.89917	1.0;0.206	D;B	0.91635	0.999;0.028	T	0.53858	-0.8379	7	0.24483	T	0.36	.	4.9871	0.14196	0.0:0.8255:0.0:0.1745	.	18;18	B4DU32;P98187	.;CP4F8_HUMAN	L	18	.	ENSP00000409702:P18L	P	+	2	0	CYP4F8	15587480	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	-0.061000	0.11693	0.614000	0.30107	0.313000	0.20887	CCG		0.672	AD000091.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000460896.2		
SLC27A1	376497	hgsc.bcm.edu	37	19	17608117	17608117	+	Silent	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr19:17608117C>T	ENST00000252595.7	+	7	1147	c.1050C>T	c.(1048-1050)cgC>cgT	p.R350R	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Silent_p.R350R|SLC27A1_ENST00000598424.1_Silent_p.R171R	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	350	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AGCCGGTGCGCGAGGCGGAGA	0.687																																																	0			19											43.0	36.0	38.0					19																	17608117		2202	4298	6500	17469117	SO:0001819	synonymous_variant	376497			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1050C>T	19.37:g.17608117C>T			17469117	A6NIH2|B7Z662	Silent	SNP	ENST00000252595.7	37	CCDS32953.1																																																																																				0.687	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	NM_198580	
ZNF430	80264	hgsc.bcm.edu	37	19	21239944	21239944	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr19:21239944C>T	ENST00000261560.5	+	5	1011	c.830C>T	c.(829-831)aCt>aTt	p.T277I	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	277					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAACCCTTACTACACATAAG	0.393																																																	0			19											56.0	61.0	59.0					19																	21239944		2203	4298	6501	21031784	SO:0001583	missense	80264			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.830C>T	19.37:g.21239944C>T	ENSP00000261560:p.Thr277Ile		21031784	Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.850157	0.00563	.	.	ENSG00000118620	ENST00000261560	T	0.07688	3.17	1.04	-0.505	0.11993	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06234	0.0161	N	0.17764	0.52	0.09310	N	1	B;P	0.36027	0.148;0.533	B;B	0.39379	0.051;0.298	T	0.41197	-0.9522	9	0.33940	T	0.23	.	8.6076	0.33782	0.0:0.3254:0.6746:0.0	.	276;277	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	I	277	ENSP00000261560:T277I	ENSP00000261560:T277I	T	+	2	0	ZNF430	21031784	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-1.685000	0.01930	-0.490000	0.06707	-0.485000	0.04761	ACT		0.393	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189	
AP2A1	160	hgsc.bcm.edu	37	19	50303389	50303389	+	Silent	SNP	C	C	T	rs368042642		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr19:50303389C>T	ENST00000359032.5	+	11	1437	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	AP2A1_ENST00000354293.5_Silent_p.A479A	NM_014203.2	NP_055018.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	479					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	AP-2 adaptor complex (GO:0030122)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		AGGGCTATGCCGCCAAGACCG	0.617																																																	0			19						C	,	0,4302		0,0,2151	69.0	77.0	74.0		1437,1437	-9.3	0.2	19		74	1,8483		0,1,4241	no	coding-synonymous,coding-synonymous	AP2A1	NM_014203.2,NM_130787.2	,	0,1,6392	TT,TC,CC		0.0118,0.0,0.0078	,	479/978,479/956	50303389	1,12785	2151	4242	6393	54995201	SO:0001819	synonymous_variant	160			AA993745	CCDS46148.1, CCDS46149.1	19q13.3	2008-05-23				ENSG00000196961			561	protein-coding gene	gene with protein product		601026		CLAPA1, ADTAA		2564002	Standard	NM_014203		Approved		uc002ppn.3	O95782		ENST00000359032.5:c.1437C>T	19.37:g.50303389C>T			54995201	Q96CI7|Q96PP6|Q96PP7|Q9H070	Silent	SNP	ENST00000359032.5	37	CCDS46148.1																																																																																				0.617	AP2A1-008	NOVEL	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465809.1		
ZNF808	388558	hgsc.bcm.edu	37	19	53057342	53057342	+	Silent	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr19:53057342A>G	ENST00000359798.4	+	5	1353	c.1173A>G	c.(1171-1173)agA>agG	p.R391R		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	391					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACCATACTAGAATTCATAGTG	0.383																																																	0			19											104.0	110.0	108.0					19																	53057342		2190	4292	6482	57749154	SO:0001819	synonymous_variant	388558			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1173A>G	19.37:g.53057342A>G			57749154	Q68CN7	Silent	SNP	ENST00000359798.4	37	CCDS46167.1																																																																																				0.383	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886	
CSMD1	64478	hgsc.bcm.edu	37	8	2796204	2796204	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr8:2796204G>A	ENST00000520002.1	-	71	11156	c.10601C>T	c.(10600-10602)tCg>tTg	p.S3534L	CSMD1_ENST00000400186.3_Missense_Mutation_p.S3357L|CSMD1_ENST00000542608.1_Missense_Mutation_p.S3356L|CSMD1_ENST00000602557.1_Missense_Mutation_p.S3534L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S3533L|CSMD1_ENST00000602723.1_Missense_Mutation_p.S3357L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3534						integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTTTTCAAACGATGCTTGTCC	0.413																																																	0			8											271.0	240.0	250.0					8																	2796204		1916	4116	6032	2783611	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.10601C>T	8.37:g.2796204G>A	ENSP00000430733:p.Ser3534Leu		2783611	Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37		.	.	.	.	.	.	.	.	.	.	G	29.6	5.024079	0.93462	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.32753	1.44;1.58;1.6;1.44	5.92	5.92	0.95590	.	0.000000	0.64402	D	0.000003	T	0.51753	0.1693	L	0.44542	1.39	0.80722	D	1	D;P;D	0.89917	0.985;0.898;1.0	B;B;D	0.83275	0.265;0.241;0.996	T	0.47156	-0.9139	10	0.72032	D	0.01	.	20.3214	0.98679	0.0:0.0:1.0:0.0	.	3534;3534;3356	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	L	3357;3534;3395;3533;3356	ENSP00000383047:S3357L;ENSP00000430733:S3534L;ENSP00000441462:S3533L;ENSP00000446243:S3356L	ENSP00000320445:S3395L	S	-	2	0	CSMD1	2783611	1.000000	0.71417	0.802000	0.32245	0.852000	0.48524	7.827000	0.86722	2.804000	0.96469	0.655000	0.94253	TCG		0.413	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
FGL1	2267	hgsc.bcm.edu	37	8	17731885	17731885	+	Missense_Mutation	SNP	A	A	T	rs372364435		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr8:17731885A>T	ENST00000398056.2	-	6	1205	c.390T>A	c.(388-390)agT>agA	p.S130R	FGL1_ENST00000522444.1_Missense_Mutation_p.S130R|FGL1_ENST00000427924.1_Missense_Mutation_p.S130R|FGL1_ENST00000518650.1_Missense_Mutation_p.S130R|FGL1_ENST00000398054.1_Missense_Mutation_p.S130R|FGL1_ENST00000381840.2_Missense_Mutation_p.S130R|FGL1_ENST00000381841.2_Missense_Mutation_p.S130R			Q08830	FGL1_HUMAN	fibrinogen-like 1	130	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adipose tissue development (GO:0060612)|cholesterol metabolic process (GO:0008203)|regulation of glucose metabolic process (GO:0010906)|response to stilbenoid (GO:0035634)	extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TAAAGTTTTCACTGCCATCAG	0.373																																																	0			8											127.0	118.0	121.0					8																	17731885		2203	4300	6503	17776165	SO:0001583	missense	2267			D14446	CCDS6004.1	8p22	2013-02-06			ENSG00000104760	ENSG00000104760		"""Fibrinogen C domain containing"""	3695	protein-coding gene	gene with protein product		605776				8390249	Standard	NM_004467		Approved	HFREP-1	uc003wyb.3	Q08830	OTTHUMG00000096989	ENST00000398056.2:c.390T>A	8.37:g.17731885A>T	ENSP00000381133:p.Ser130Arg		17776165	A6NKU4|Q4PJH9|Q53YF1|Q8NG32|Q96KW6|Q96QM6	Missense_Mutation	SNP	ENST00000398056.2	37	CCDS6004.1	.	.	.	.	.	.	.	.	.	.	A	9.546	1.114640	0.20795	.	.	ENSG00000104760	ENST00000221204;ENST00000398056;ENST00000521427;ENST00000522444;ENST00000381841;ENST00000427924;ENST00000398054;ENST00000381840;ENST00000518650	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.11	-4.01	0.04045	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.487695	0.25801	N	0.028206	T	0.41351	0.1155	M	0.74389	2.26	0.39960	D	0.97465	B;B;D	0.76494	0.131;0.263;0.999	B;B;D	0.73708	0.038;0.147;0.981	T	0.37753	-0.9692	10	0.72032	D	0.01	.	8.5576	0.33492	0.3553:0.0:0.5316:0.1132	.	100;130;130	E7ERS0;Q8NG32;Q08830	.;.;FGL1_HUMAN	R	130;130;100;130;130;130;130;130;130	ENSP00000381133:S130R;ENSP00000429757:S130R;ENSP00000371263:S130R;ENSP00000401952:S130R;ENSP00000381131:S130R;ENSP00000371262:S130R;ENSP00000428430:S130R	ENSP00000221204:S130R	S	-	3	2	FGL1	17776165	0.072000	0.21174	0.783000	0.31826	0.333000	0.28666	-0.638000	0.05452	-0.953000	0.03645	-1.091000	0.02175	AGT		0.373	FGL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375254.1	NM_004467	
HR	55806	hgsc.bcm.edu	37	8	21984769	21984769	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr8:21984769C>T	ENST00000381418.4	-	3	2666	c.1186G>A	c.(1186-1188)Ggc>Agc	p.G396S	HR_ENST00000312841.8_Missense_Mutation_p.G396S	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	396					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G396S(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCAGGGCAGCCGCGTGGACAT	0.662																																																	1	Substitution - Missense(1)	prostate(1)	8											97.0	110.0	105.0					8																	21984769		2203	4300	6503	22040714	SO:0001583	missense	55806			AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.1186G>A	8.37:g.21984769C>T	ENSP00000370826:p.Gly396Ser		22040714	Q6GS30|Q96H33|Q9NPE1	Missense_Mutation	SNP	ENST00000381418.4	37	CCDS6022.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677511	0.47886	.	.	ENSG00000168453	ENST00000381418;ENST00000312841	T;T	0.72615	-0.66;-0.67	6.04	4.22	0.49857	.	0.328139	0.26321	N	0.025057	T	0.47116	0.1428	N	0.16656	0.425	0.25412	N	0.988348	P;P	0.50943	0.94;0.901	B;B	0.36464	0.225;0.113	T	0.35051	-0.9804	10	0.28530	T	0.3	-3.0233	8.253	0.31737	0.0:0.8156:0.0:0.1844	.	396;396	O43593-2;O43593	.;HAIR_HUMAN	S	396	ENSP00000370826:G396S;ENSP00000326765:G396S	ENSP00000326765:G396S	G	-	1	0	HR	22040714	0.025000	0.19082	0.078000	0.20375	0.777000	0.43975	0.427000	0.21379	0.850000	0.35239	0.563000	0.77884	GGC		0.662	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1		
PNMA2	10687	hgsc.bcm.edu	37	8	26365183	26365183	+	Silent	SNP	G	G	A	rs202002019		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr8:26365183G>A	ENST00000522362.2	-	3	1983	c.1089C>T	c.(1087-1089)gaC>gaT	p.D363D	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	363					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		GTTTTCAGTCGTCTCCCTCAT	0.473																																																	0			8						G		0,4406		0,0,2203	97.0	99.0	99.0		1089	-8.6	0.0	8		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PNMA2	NM_007257.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		363/365	26365183	1,13005	2203	4300	6503	26421100	SO:0001819	synonymous_variant	10687				CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.1089C>T	8.37:g.26365183G>A			26421100	B3KNY9|O94959|O95145|Q49A18|Q9UL43	Silent	SNP	ENST00000522362.2	37	CCDS34868.1																																																																																				0.473	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375709.2	NM_007257	
TRIM35	23087	hgsc.bcm.edu	37	8	27145231	27145231	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr8:27145231A>G	ENST00000305364.4	-	6	1401	c.1318T>C	c.(1318-1320)Tct>Cct	p.S440P	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	440	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		TCATAGAAAGACAGCTCGCCC	0.692																																																	0			8											53.0	49.0	50.0					8																	27145231		2202	4298	6500	27201148	SO:0001583	missense	23087			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1318T>C	8.37:g.27145231A>G	ENSP00000301924:p.Ser440Pro		27201148	Q86XQ0|Q8WVA4	Missense_Mutation	SNP	ENST00000305364.4	37	CCDS6056.2	.	.	.	.	.	.	.	.	.	.	A	20.8	4.046069	0.75846	.	.	ENSG00000104228	ENST00000305364;ENST00000380544	T	0.68903	-0.36	5.34	5.34	0.76211	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.64402	D	0.000002	D	0.85173	0.5636	M	0.93241	3.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.88450	0.3048	10	0.87932	D	0	.	11.7082	0.51610	1.0:0.0:0.0:0.0	.	440	Q9UPQ4	TRI35_HUMAN	P	440	ENSP00000301924:S440P	ENSP00000301924:S440P	S	-	1	0	TRIM35	27201148	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	5.083000	0.64456	2.021000	0.59480	0.379000	0.24179	TCT		0.692	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219848.2	NM_171982	
TMEM64	169200	hgsc.bcm.edu	37	8	91643932	91643932	+	Missense_Mutation	SNP	T	T	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr8:91643932T>A	ENST00000458549.2	-	2	976	c.799A>T	c.(799-801)Act>Tct	p.T267S	TMEM64_ENST00000519519.1_Missense_Mutation_p.T6S|TMEM64_ENST00000418210.2_Intron	NM_001008495.3	NP_001008495.2	Q6YI46	TMM64_HUMAN	transmembrane protein 64	267					cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			GAGAGATCAGTAATCTAGAAG	0.378																																																	0			8											100.0	95.0	97.0					8																	91643932		2203	4300	6503	91713108	SO:0001583	missense	169200			AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000458549.2:c.799A>T	8.37:g.91643932T>A	ENSP00000414786:p.Thr267Ser		91713108	B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	Missense_Mutation	SNP	ENST00000458549.2	37	CCDS34920.2	.	.	.	.	.	.	.	.	.	.	T	18.79	3.699960	0.68501	.	.	ENSG00000180694	ENST00000458549;ENST00000519519;ENST00000521852	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.50137	0.1598	L	0.31476	0.935	0.80722	D	1	P;D	0.52996	0.748;0.957	B;P	0.49752	0.319;0.621	T	0.41680	-0.9495	9	0.25106	T	0.35	.	16.2365	0.82377	0.0:0.0:0.0:1.0	.	6;267	Q6YI46-2;Q6YI46	.;TMM64_HUMAN	S	267;6;6	.	ENSP00000414786:T267S	T	-	1	0	TMEM64	91713108	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.992000	0.63889	2.238000	0.73509	0.477000	0.44152	ACT		0.378	TMEM64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347825.1	NM_001008495	
TRPS1	7227	hgsc.bcm.edu	37	8	116599698	116599698	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr8:116599698G>T	ENST00000220888.5	-	4	2350	c.2191C>A	c.(2191-2193)Cat>Aat	p.H731N	TRPS1_ENST00000395715.3_Missense_Mutation_p.H744N|TRPS1_ENST00000519674.1_Missense_Mutation_p.H731N|TRPS1_ENST00000519076.1_Missense_Mutation_p.H485N|TRPS1_ENST00000520276.1_Missense_Mutation_p.H735N			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	731	Mediates interaction with GLI3.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GATATGGCATGACCGTCCTCT	0.488									Langer-Giedion syndrome																																								0			8											171.0	175.0	174.0					8																	116599698		2022	4173	6195	116668873	SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.2191C>A	8.37:g.116599698G>T	ENSP00000220888:p.His731Asn		116668873	B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37		.	.	.	.	.	.	.	.	.	.	G	12.26	1.884571	0.33255	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276;ENST00000519674	D;D;D;D;T	0.98345	-4.88;-4.85;-4.81;-4.86;0.97	5.86	5.86	0.93980	.	0.283862	0.40302	N	0.001128	D	0.96225	0.8769	L	0.29908	0.895	0.38317	D	0.943404	B;B;B	0.16802	0.019;0.011;0.019	B;B;B	0.15870	0.014;0.003;0.014	D	0.92986	0.6410	10	0.72032	D	0.01	.	20.2019	0.98263	0.0:0.0:1.0:0.0	.	735;731;744	Q9UHF7-3;Q9UHF7;Q9UHF7-2	.;TRPS1_HUMAN;.	N	744;731;485;735;731	ENSP00000379065:H744N;ENSP00000220888:H731N;ENSP00000428910:H485N;ENSP00000428680:H735N;ENSP00000429174:H731N	ENSP00000220888:H731N	H	-	1	0	TRPS1	116668873	0.990000	0.36364	0.121000	0.21740	0.730000	0.41778	5.746000	0.68681	2.776000	0.95493	0.655000	0.94253	CAT		0.488	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
KCNQ3	3786	hgsc.bcm.edu	37	8	133142093	133142093	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr8:133142093C>A	ENST00000388996.4	-	15	2455	c.2035G>T	c.(2035-2037)Gat>Tat	p.D679Y	KCNQ3_ENST00000521134.1_Missense_Mutation_p.D559Y|KCNQ3_ENST00000519445.1_Missense_Mutation_p.D667Y	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	679					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTTTTCAAATCGGAATACCTG	0.532																																																	0			8											142.0	119.0	127.0					8																	133142093		2203	4300	6503	133211275	SO:0001583	missense	3786			AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.2035G>T	8.37:g.133142093C>A	ENSP00000373648:p.Asp679Tyr		133211275	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	37	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	C	17.47	3.397623	0.62177	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99005	-5.3;-5.29;-5.32	5.42	5.42	0.78866	.	0.588749	0.18441	N	0.141130	D	0.97084	0.9047	N	0.08118	0	0.50632	D	0.999884	P;P	0.48407	0.91;0.91	P;P	0.48454	0.578;0.578	D	0.98128	1.0429	10	0.59425	D	0.04	-14.4265	18.1948	0.89818	0.0:1.0:0.0:0.0	.	667;679	E7ET42;O43525	.;KCNQ3_HUMAN	Y	679;559;667;656;558	ENSP00000373648:D679Y;ENSP00000429799:D559Y;ENSP00000428790:D667Y	ENSP00000373648:D679Y	D	-	1	0	KCNQ3	133211275	0.998000	0.40836	0.078000	0.20375	0.849000	0.48306	5.312000	0.65792	2.535000	0.85469	0.555000	0.69702	GAT		0.532	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
MEGF6	1953	hgsc.bcm.edu	37	1	3415741	3415741	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:3415741G>A	ENST00000356575.4	-	24	3281	c.3055C>T	c.(3055-3057)Cac>Tac	p.H1019Y	MEGF6_ENST00000294599.4_Intron	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1019	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GGGGCACAGTGGCACTGCCCG	0.672																																					Ovarian(73;978 3658)												0			1											22.0	28.0	26.0					1																	3415741		1990	4156	6146	3405601	SO:0001583	missense	1953			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3055C>T	1.37:g.3415741G>A	ENSP00000348982:p.His1019Tyr		3405601	Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.552060	0.27739	.	.	ENSG00000162591	ENST00000356575	T	0.32515	1.45	4.94	4.94	0.65067	EGF-like, laminin (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.962540	0.08636	N	0.916288	T	0.31670	0.0804	L	0.49455	1.56	0.19945	N	0.999941	P	0.39862	0.692	B	0.36030	0.216	T	0.21484	-1.0244	10	0.48119	T	0.1	-17.9235	13.4438	0.61129	0.0:0.2845:0.7155:0.0	.	1019	O75095	MEGF6_HUMAN	Y	1019	ENSP00000348982:H1019Y	ENSP00000348982:H1019Y	H	-	1	0	MEGF6	3405601	0.002000	0.14202	0.997000	0.53966	0.843000	0.47879	0.231000	0.17872	2.440000	0.82611	0.549000	0.68633	CAC		0.672	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409	
FAM131C	348487	hgsc.bcm.edu	37	1	16385031	16385031	+	Silent	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:16385031G>A	ENST00000375662.4	-	7	927	c.744C>T	c.(742-744)ccC>ccT	p.P248P	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	248	Pro-rich.									large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGGCCCCGGGCAGCCGCC	0.721																																																	0			1											2.0	2.0	2.0					1																	16385031		1405	3126	4531	16257618	SO:0001819	synonymous_variant	348487				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 117"""	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.744C>T	1.37:g.16385031G>A			16257618	Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	ENST00000375662.4	37	CCDS41270.1																																																																																				0.721	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026319.1	NM_182623	
IGSF21	84966	hgsc.bcm.edu	37	1	18703368	18703368	+	Silent	SNP	C	C	T	rs139607566		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:18703368C>T	ENST00000251296.1	+	8	1559	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	IGSF21_ENST00000473951.1_3'UTR	NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	392	Ig-like 2.					extracellular region (GO:0005576)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		GCGCTGAGTTCGACGGGAAGG	0.652																																																	0			1						C		1,4405	2.1+/-5.4	0,1,2202	45.0	45.0	45.0		1176	-3.6	0.2	1	dbSNP_134	45	0,8600		0,0,4300	no	coding-synonymous	IGSF21	NM_032880.4		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		392/468	18703368	1,13005	2203	4300	6503	18575955	SO:0001819	synonymous_variant	84966			AK075316	CCDS184.1	1p36.13	2013-01-29			ENSG00000117154	ENSG00000117154		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28246	protein-coding gene	gene with protein product						12477932	Standard	NM_032880		Approved	MGC15730, RP11-121A23.1	uc001bau.2	Q96ID5	OTTHUMG00000002432	ENST00000251296.1:c.1176C>T	1.37:g.18703368C>T			18575955	Q8NBR8	Silent	SNP	ENST00000251296.1	37	CCDS184.1																																																																																				0.652	IGSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006924.1	NM_032880	
HMGCL	3155	hgsc.bcm.edu	37	1	24143201	24143201	+	Silent	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:24143201T>C	ENST00000374490.3	-	4	355	c.312A>G	c.(310-312)ccA>ccG	p.P104P	HMGCL_ENST00000509389.1_5'UTR|HMGCL_ENST00000374483.4_Silent_p.P79P|HMGCL_ENST00000436439.2_Silent_p.P104P	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase	104					acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		GGGTCAGGACTGGGTAGTTGA	0.512																																																	0			1											171.0	165.0	167.0					1																	24143201		2203	4300	6503	24015788	SO:0001819	synonymous_variant	3155			BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.312A>G	1.37:g.24143201T>C			24015788	B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	Silent	SNP	ENST00000374490.3	37	CCDS243.1																																																																																				0.512	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008253.2	NM_000191	
NT5C1A	84618	hgsc.bcm.edu	37	1	40125092	40125092	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:40125092G>A	ENST00000235628.1	-	6	807	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	270					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|purine nucleobase metabolic process (GO:0006144)|purine nucleoside monophosphate catabolic process (GO:0009128)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CACTCCAGCCGCAGGCCTTTG	0.587																																																	0			1											45.0	49.0	48.0					1																	40125092		2203	4300	6503	39897679	SO:0001583	missense	84618			AF331801	CCDS440.1	1p34.3-p33	2008-07-18			ENSG00000116981	ENSG00000116981			17819	protein-coding gene	gene with protein product	"""cytosolic 5' nucleotidase, type 1A"", ""AMP-specific 5'-NT"", ""cytosolic 5'-nucleotidase IA"""	610525				11133996, 11690631	Standard	NM_032526		Approved	CN-I, CN-IA, CN1A, CN1, MGC119199, MGC119201	uc001cdq.1	Q9BXI3	OTTHUMG00000009244	ENST00000235628.1:c.808C>T	1.37:g.40125092G>A	ENSP00000235628:p.Arg270Trp		39897679	Q3SYB9|Q5TG98|Q9BWT8	Missense_Mutation	SNP	ENST00000235628.1	37	CCDS440.1	.	.	.	.	.	.	.	.	.	.	G	17.28	3.348561	0.61183	.	.	ENSG00000116981	ENST00000235628	.	.	.	5.26	0.84	0.18912	.	0.000000	0.85682	D	0.000000	T	0.82254	0.4997	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85637	0.1274	9	0.72032	D	0.01	-1.1619	16.1665	0.81759	0.0:0.0:0.4272:0.5728	.	270	Q9BXI3	5NT1A_HUMAN	W	270	.	ENSP00000235628:R270W	R	-	1	2	NT5C1A	39897679	1.000000	0.71417	0.991000	0.47740	0.774000	0.43823	2.870000	0.48451	0.275000	0.22094	-0.953000	0.02652	CGG		0.587	NT5C1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025626.1	NM_032526	
GLIS1	148979	hgsc.bcm.edu	37	1	53975700	53975700	+	Splice_Site	SNP	C	C	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:53975700C>A	ENST00000312233.2	-	8	1925	c.1359G>T	c.(1357-1359)ggG>ggT	p.G453G		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CGGGCCCCAACCTGGAGAGAA	0.706																																																	0			1											6.0	8.0	7.0					1																	53975700		2133	4200	6333	53748288	SO:0001630	splice_region_variant	148979			AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.1359-1G>T	1.37:g.53975700C>A			53748288		Silent	SNP	ENST00000312233.2	37	CCDS582.1																																																																																				0.706	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193	Silent
LRRIQ3	127255	hgsc.bcm.edu	37	1	74507278	74507278	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:74507278G>T	ENST00000395089.1	-	6	1336	c.1337C>A	c.(1336-1338)gCa>gAa	p.A446E	LRRIQ3_ENST00000354431.4_Missense_Mutation_p.A446E			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	446										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AGCAACTTGTGCCATGGCTAC	0.323																																																	0			1											213.0	196.0	201.0					1																	74507278		1844	4094	5938	74279866	SO:0001583	missense	127255			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.1337C>A	1.37:g.74507278G>T	ENSP00000378524:p.Ala446Glu		74279866	A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	ENST00000395089.1	37	CCDS41350.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.670663	0.47781	.	.	ENSG00000162620	ENST00000395089;ENST00000354431	T;T	0.09817	2.94;2.94	5.77	4.64	0.57946	.	0.161766	0.29459	N	0.012094	T	0.07593	0.0191	L	0.32530	0.975	0.09310	N	0.999999	D	0.54047	0.964	P	0.55785	0.784	T	0.10965	-1.0607	10	0.56958	D	0.05	.	7.515	0.27596	0.1382:0.0:0.8618:0.0	.	446	A6PVS8	LRIQ3_HUMAN	E	446	ENSP00000378524:A446E;ENSP00000346414:A446E	ENSP00000346414:A446E	A	-	2	0	LRRIQ3	74279866	0.346000	0.24844	0.500000	0.27589	0.054000	0.15201	3.234000	0.51320	2.890000	0.99128	0.585000	0.79938	GCA		0.323	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258	
DPYD	1806	hgsc.bcm.edu	37	1	97981479	97981479	+	Missense_Mutation	SNP	C	C	T	rs148994843		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:97981479C>T	ENST00000370192.3	-	13	1643	c.1543G>A	c.(1543-1545)Gtt>Att	p.V515I		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	515					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTGGCAGAAACGGAAGCTCCA	0.353																																																	0			1						C	ILE/VAL	0,4406		0,0,2203	64.0	60.0	62.0		1543	3.3	0.1	1	dbSNP_134	62	1,8597	1.2+/-3.3	0,1,4298	no	missense	DPYD	NM_000110.3	29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign	515/1026	97981479	1,13003	2203	4299	6502	97754067	SO:0001583	missense	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1543G>A	1.37:g.97981479C>T	ENSP00000359211:p.Val515Ile		97754067	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	C	0.057	-1.233118	0.01505	0.0	1.16E-4	ENSG00000188641	ENST00000370192	D	0.91945	-2.94	5.2	3.31	0.37934	.	0.126400	0.52532	N	0.000063	T	0.71392	0.3334	N	0.16066	0.365	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.60398	-0.7271	10	0.15066	T	0.55	-15.81	11.8376	0.52336	0.0:0.7925:0.0:0.2075	.	515	Q12882	DPYD_HUMAN	I	515	ENSP00000359211:V515I	ENSP00000359211:V515I	V	-	1	0	DPYD	97754067	0.921000	0.31238	0.060000	0.19600	0.001000	0.01503	1.930000	0.40124	0.299000	0.22661	-1.128000	0.01989	GTT		0.353	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
PLPPR5	163404	hgsc.bcm.edu	37	1	99422193	99422193	+	Silent	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:99422193C>T	ENST00000263177.4	-	2	563	c.342G>A	c.(340-342)ccG>ccA	p.P114P	LPPR5_ENST00000370188.3_Silent_p.P114P	NM_001037317.1	NP_001032394.1	Q32ZL2	LPPR5_HUMAN		114						integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)										GGCGCACCAGCGGGTTTATAT	0.363																																																	0			1											70.0	73.0	72.0					1																	99422193		2202	4300	6502	99194781	SO:0001819	synonymous_variant	0																														ENST00000263177.4:c.342G>A	1.37:g.99422193C>T			99194781	A8MPX4|B7UCH3|Q32ZD0|Q3ZCU7	Silent	SNP	ENST00000263177.4	37	CCDS30778.1																																																																																				0.363	LPPR5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393221.1		
VANGL1	81839	hgsc.bcm.edu	37	1	116206712	116206712	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:116206712G>A	ENST00000355485.2	+	4	906	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	VANGL1_ENST00000369509.1_Missense_Mutation_p.R212Q|VANGL1_ENST00000369510.4_Missense_Mutation_p.R210Q|VANGL1_ENST00000310260.3_Missense_Mutation_p.R212Q	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	212					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TTGGACTCTCGGGACCGGAAT	0.517																																																	0			1											195.0	197.0	196.0					1																	116206712		2203	4300	6503	116008235	SO:0001583	missense	81839			AB075805	CCDS883.1, CCDS53350.1	1p13.1	2013-03-05	2013-03-05		ENSG00000173218	ENSG00000173218			15512	protein-coding gene	gene with protein product		610132	"""vang (van gogh, Drosophila)-like 1, vang, van gogh-like 1 (Drosophila)"", ""vang-like 1 (van gogh, Drosophila)"""			11956595, 12011995	Standard	NM_001172411		Approved	STB2	uc001efv.1	Q8TAA9	OTTHUMG00000011971	ENST00000355485.2:c.635G>A	1.37:g.116206712G>A	ENSP00000347672:p.Arg212Gln		116008235	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Missense_Mutation	SNP	ENST00000355485.2	37	CCDS883.1	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274091	0.40194	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42	5.73	4.82	0.62117	.	0.120688	0.64402	D	0.000018	T	0.51449	0.1675	N	0.25890	0.77	0.39974	D	0.974838	B;B	0.15930	0.012;0.015	B;B	0.15052	0.007;0.012	T	0.50939	-0.8768	10	0.21014	T	0.42	2.8345	9.7263	0.40333	0.197:0.0:0.803:0.0	.	210;212	Q8TAA9-2;Q8TAA9	.;VANG1_HUMAN	Q	212;210;212;212	ENSP00000347672:R212Q;ENSP00000358523:R210Q;ENSP00000310800:R212Q;ENSP00000358522:R212Q	ENSP00000310800:R212Q	R	+	2	0	VANGL1	116008235	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	4.819000	0.62664	1.582000	0.49881	-0.142000	0.14014	CGG		0.517	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1		
HFE2	148738	hgsc.bcm.edu	37	1	145415660	145415660	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:145415660G>A	ENST00000336751.5	+	3	717	c.479G>A	c.(478-480)cGt>cAt	p.R160H	HFE2_ENST00000357836.5_Missense_Mutation_p.R47H|HFE2_ENST00000475797.1_Intron|HFE2_ENST00000497365.1_Intron	NM_213653.3	NP_998818.1	Q6ZVN8	RGMC_HUMAN	hemochromatosis type 2 (juvenile)	160					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|iron ion homeostasis (GO:0055072)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	14	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCATGGTCGTCCCCCGGGG	0.677																																																	0			1											47.0	45.0	46.0					1																	145415660		2203	4300	6503	144127017	SO:0001583	missense	148738			AY372521	CCDS72877.1, CCDS72878.1, CCDS72879.1	1q21.2	2014-06-26			ENSG00000168509	ENSG00000168509			4887	protein-coding gene	gene with protein product	"""repulsive guidance molecule c"""	608374				10205270, 14647275	Standard	NM_213653		Approved	JH, HFE2A, RGMC, HJV, hemojuvelin, haemojuvelin	uc001eni.2	Q6ZVN8	OTTHUMG00000013748	ENST00000336751.5:c.479G>A	1.37:g.145415660G>A	ENSP00000337014:p.Arg160His		144127017	B1ALI7|Q2PQ63|Q6IMF6|Q8NAH2|Q8WVJ5	Missense_Mutation	SNP	ENST00000336751.5	37	CCDS910.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119753	0.37436	.	.	ENSG00000168509	ENST00000357836;ENST00000336751	D;D	0.97455	-4.39;-4.39	4.86	3.93	0.45458	Repulsive guidance molecule, N-terminal (1);	0.397887	0.23706	N	0.045361	D	0.89649	0.6776	L	0.47716	1.5	0.23747	N	0.996954	B	0.20988	0.05	B	0.16289	0.015	D	0.84091	0.0390	10	0.42905	T	0.14	-19.0286	6.8206	0.23855	0.2116:0.0:0.7884:0.0	.	160	Q6ZVN8	RGMC_HUMAN	H	47;160	ENSP00000350495:R47H;ENSP00000337014:R160H	ENSP00000337014:R160H	R	+	2	0	HFE2	144127017	0.000000	0.05858	0.032000	0.17829	0.856000	0.48823	0.813000	0.27225	1.238000	0.43771	0.558000	0.71614	CGT		0.677	HFE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038527.1	NM_145277	
LCE1B	353132	hgsc.bcm.edu	37	1	152785250	152785250	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:152785250A>G	ENST00000360090.3	+	1	804	c.328A>G	c.(328-330)Agt>Ggt	p.S110G		NM_178349.1	NP_848126.1	Q5T7P3	LCE1B_HUMAN	late cornified envelope 1B	110	Gly-rich.				keratinization (GO:0031424)					breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|skin(2)	18	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGGAGGAGGGAGTGGCCAGCA	0.617																																																	0			1											35.0	43.0	40.0					1																	152785250		2199	4299	6498	151051874	SO:0001583	missense	353132			BI670515	CCDS1027.1	1q21.3	2008-02-05	2004-10-11	2004-10-15	ENSG00000196734	ENSG00000196734		"""Late cornified envelopes"""	16611	protein-coding gene	gene with protein product		612604	"""small proline rich-like (epidermal differentiation complex) 2A"""	SPRL2A		11698679	Standard	NM_178349		Approved	LEP2	uc001faq.3	Q5T7P3	OTTHUMG00000014402	ENST00000360090.3:c.328A>G	1.37:g.152785250A>G	ENSP00000353203:p.Ser110Gly		151051874	A4IF40	Missense_Mutation	SNP	ENST00000360090.3	37	CCDS1027.1	.	.	.	.	.	.	.	.	.	.	A	1.511	-0.549572	0.03996	.	.	ENSG00000196734	ENST00000360090;ENST00000439693	T	0.02236	4.38	4.68	0.751	0.18392	.	0.862191	0.09496	N	0.794310	T	0.00608	0.0020	L	0.28274	0.84	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.48410	-0.9038	10	0.87932	D	0	.	2.7708	0.05334	0.5935:0.0:0.2167:0.1897	.	110	Q5T7P3	LCE1B_HUMAN	G	110;102	ENSP00000353203:S110G	ENSP00000353203:S110G	S	+	1	0	LCE1B	151051874	0.011000	0.17503	0.006000	0.13384	0.011000	0.07611	0.488000	0.22371	0.372000	0.24591	0.528000	0.53228	AGT		0.617	LCE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040060.1	NM_178349	
KCNN3	3782	hgsc.bcm.edu	37	1	154744734	154744734	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:154744734G>A	ENST00000271915.4	-	3	1480	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	KCNN3_ENST00000358505.2_Missense_Mutation_p.R76C|KCNN3_ENST00000361147.4_Missense_Mutation_p.R84C	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	394					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	AAGGCCAGGCGTGCCGTCCAG	0.597																																																	0			1											68.0	61.0	63.0					1																	154744734		2203	4300	6503	153011358	SO:0001583	missense	3782			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1165C>T	1.37:g.154744734G>A	ENSP00000271915:p.Arg389Cys		153011358	B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	ENST00000271915.4	37	CCDS30880.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694787	0.88830	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	D;D;D	0.98849	-5.18;-4.04;-5.17	4.69	4.69	0.59074	.	0.000000	0.56097	D	0.000033	D	0.98975	0.9651	M	0.75447	2.3	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.99;0.921	D	0.99888	1.1127	10	0.87932	D	0	-18.6587	17.4259	0.87526	0.0:0.0:1.0:0.0	.	395;394;84	Q6JXY2;Q9UGI6;Q9UGI6-2	.;KCNN3_HUMAN;.	C	84;389;76	ENSP00000354764:R84C;ENSP00000271915:R389C;ENSP00000351295:R76C	ENSP00000271915:R389C	R	-	1	0	KCNN3	153011358	1.000000	0.71417	0.983000	0.44433	0.952000	0.60782	9.652000	0.98499	2.415000	0.81967	0.561000	0.74099	CGC		0.597	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090688.3	NM_002249	
OLFML2B	25903	hgsc.bcm.edu	37	1	161967994	161967994	+	Silent	SNP	G	G	A	rs34123330	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr1:161967994G>A	ENST00000294794.3	-	6	1518	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	OLFML2B_ENST00000367940.2_Silent_p.N366N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	365					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.N365N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGTCCGAGCGTTCAGGTCGC	0.612													G|||	14	0.00279553	0.0106	0.0	5008	,	,		18931	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	1						G		28,4378	34.3+/-65.2	0,28,2175	142.0	144.0	143.0		1095	-2.0	0.0	1	dbSNP_126	143	0,8600		0,0,4300	no	coding-synonymous	OLFML2B	NM_015441.1		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		365/751	161967994	28,12978	2203	4300	6503	160234618	SO:0001819	synonymous_variant	25903			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1095C>T	1.37:g.161967994G>A			160234618	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	CCDS1236.1																																																																																				0.612	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
DCHS1	8642	hgsc.bcm.edu	37	11	6655209	6655209	+	Missense_Mutation	SNP	C	C	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:6655209C>G	ENST00000299441.3	-	4	2440	c.2029G>C	c.(2029-2031)Gac>Cac	p.D677H	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	677	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATTCTCGTCTGACAGAAAC	0.562																																																	0			11											77.0	77.0	77.0					11																	6655209		2201	4296	6497	6611785	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.2029G>C	11.37:g.6655209C>G	ENSP00000299441:p.Asp677His		6611785	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.607341	0.66558	.	.	ENSG00000166341	ENST00000299441	T	0.67698	-0.28	4.59	4.59	0.56863	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.44097	D	0.000486	D	0.88837	0.6545	H	0.98849	4.35	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.92904	0.6342	10	0.72032	D	0.01	.	14.721	0.69305	0.0:1.0:0.0:0.0	.	677	Q96JQ0	PCD16_HUMAN	H	677	ENSP00000299441:D677H	ENSP00000299441:D677H	D	-	1	0	DCHS1	6611785	1.000000	0.71417	0.996000	0.52242	0.613000	0.37349	6.756000	0.74919	2.397000	0.81536	0.561000	0.74099	GAC		0.562	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
SYT9	143425	hgsc.bcm.edu	37	11	7441758	7441758	+	Silent	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:7441758C>T	ENST00000318881.6	+	6	1596	c.1359C>T	c.(1357-1359)atC>atT	p.I453I		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	453	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		ATGAGATCATCGGCGTGTGTC	0.443																																																	0			11											172.0	150.0	157.0					11																	7441758		2201	4296	6497	7398334	SO:0001819	synonymous_variant	143425			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1359C>T	11.37:g.7441758C>T			7398334		Silent	SNP	ENST00000318881.6	37	CCDS7778.1																																																																																				0.443	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
DENND5A	23258	hgsc.bcm.edu	37	11	9172291	9172291	+	Missense_Mutation	SNP	G	G	A	rs148317700		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:9172291G>A	ENST00000328194.3	-	14	2862	c.2542C>T	c.(2542-2544)Cgt>Tgt	p.R848C	DENND5A_ENST00000527700.1_Missense_Mutation_p.R191C|DENND5A_ENST00000530044.1_Missense_Mutation_p.R848C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	848	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R848C(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACTTCCTACGTTCTGAATCA	0.428																																																	1	Substitution - Missense(1)	large_intestine(1)	11						G	CYS/ARG	0,4402		0,0,2201	134.0	120.0	125.0		2542	5.5	1.0	11	dbSNP_134	125	1,8591		0,1,4295	yes	missense	DENND5A	NM_015213.3	180	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	848/1288	9172291	1,12993	2201	4296	6497	9128867	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.2542C>T	11.37:g.9172291G>A	ENSP00000328524:p.Arg848Cys		9128867	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.044212|4.044212	0.75732|0.75732	0.0|0.0	1.16E-4|1.16E-4	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000530044;ENST00000527700|ENST00000524446	T;T;T|.	0.33438|.	1.41;1.41;1.41|.	5.53|5.53	5.53|5.53	0.82687|0.82687	RUN (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75831|0.75831	0.3903|0.3903	M|M	0.80616|0.80616	2.505|2.505	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.67725|.	0.953;0.939|.	T|T	0.76984|0.76984	-0.2756|-0.2756	10|5	0.87932|.	D|.	0|.	.|.	13.4783|13.4783	0.61322|0.61322	0.0:0.0:0.7382:0.2618|0.0:0.0:0.7382:0.2618	.|.	848;848|.	E9PS91;Q6IQ26|.	.;DEN5A_HUMAN|.	C|M	848;848;191|18	ENSP00000328524:R848C;ENSP00000435866:R848C;ENSP00000432549:R191C|.	ENSP00000328524:R848C|.	R|T	-|-	1|2	0|0	DENND5A|DENND5A	9128867|9128867	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	3.984000|3.984000	0.56923|0.56923	2.601000|2.601000	0.87937|0.87937	0.655000|0.655000	0.94253|0.94253	CGT|ACG		0.428	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213	
RRAS2	22800	hgsc.bcm.edu	37	11	14300893	14300893	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:14300893A>G	ENST00000256196.4	-	6	918	c.605T>C	c.(604-606)gTc>gCc	p.V202A	RRAS2_ENST00000529237.1_Missense_Mutation_p.V125A|RRAS2_ENST00000532814.1_Missense_Mutation_p.V125A|RRAS2_ENST00000414023.2_Missense_Mutation_p.V125A|RRAS2_ENST00000534746.1_Missense_Mutation_p.V125A|RRAS2_ENST00000526063.1_Missense_Mutation_p.V125A|RRAS2_ENST00000545643.1_Missense_Mutation_p.V208A|RRAS2_ENST00000537760.1_Missense_Mutation_p.V167A			P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	202					osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		CTAGAAAATGACACAATGGCA	0.403																																																	0			11											168.0	149.0	155.0					11																	14300893		2200	4294	6494	14257469	SO:0001583	missense	22800			M31468	CCDS7814.1, CCDS44544.1, CCDS53603.1	11p15.2	2014-05-09			ENSG00000133818	ENSG00000133818			17271	protein-coding gene	gene with protein product		600098				2108320, 8052619	Standard	NM_012250		Approved	TC21	uc001mlf.4	P62070	OTTHUMG00000165756	ENST00000256196.4:c.605T>C	11.37:g.14300893A>G	ENSP00000256196:p.Val202Ala		14257469	B2R9Z3|B7Z5Z2|B7Z6C4|B7Z7H6|P17082	Missense_Mutation	SNP	ENST00000256196.4	37	CCDS7814.1	.	.	.	.	.	.	.	.	.	.	A	16.23	3.065728	0.55539	.	.	ENSG00000133818	ENST00000537760;ENST00000545643;ENST00000414023;ENST00000529237;ENST00000256196;ENST00000534746;ENST00000526063;ENST00000532814	T;T;T;T;T;T;T;T	0.71222	0.34;-0.26;-0.55;-0.55;-0.13;-0.55;-0.55;-0.55	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.74382	0.3709	N	0.19112	0.55	0.80722	D	1	B;D	0.64830	0.172;0.994	B;D	0.70716	0.05;0.97	T	0.76764	-0.2839	10	0.49607	T	0.09	.	16.3817	0.83467	1.0:0.0:0.0:0.0	.	208;202	B7Z5Z2;P62070	.;RRAS2_HUMAN	A	167;208;125;125;202;125;125;125	ENSP00000437547:V167A;ENSP00000441722:V208A;ENSP00000403282:V125A;ENSP00000433230:V125A;ENSP00000256196:V202A;ENSP00000437083:V125A;ENSP00000434104:V125A;ENSP00000431954:V125A	ENSP00000256196:V202A	V	-	2	0	RRAS2	14257469	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.274000	0.95731	2.276000	0.75962	0.454000	0.30748	GTC		0.403	RRAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386035.1	NM_012250	
SOX6	55553	hgsc.bcm.edu	37	11	16071410	16071410	+	Silent	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:16071410A>G	ENST00000352083.6	-	11	1403	c.1326T>C	c.(1324-1326)tcT>tcC	p.S442S	SOX6_ENST00000527619.1_Silent_p.S404S|SOX6_ENST00000528252.1_Silent_p.S401S|SOX6_ENST00000528429.1_Silent_p.S442S|SOX6_ENST00000396356.3_Silent_p.S442S|SOX6_ENST00000316399.6_Silent_p.S442S			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	442					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TCTGGGTGGGAGACGTTGGGG	0.512																																																	0			11											235.0	241.0	239.0					11																	16071410		2200	4294	6494	16027986	SO:0001819	synonymous_variant	55553			AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.1326T>C	11.37:g.16071410A>G			16027986	Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37																																																																																					0.512	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326	
SLC43A3	29015	hgsc.bcm.edu	37	11	57193533	57193533	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:57193533T>C	ENST00000395123.2	-	3	417	c.113A>G	c.(112-114)aAg>aGg	p.K38R	SLC43A3_ENST00000352187.1_Missense_Mutation_p.K38R|SLC43A3_ENST00000529554.1_Missense_Mutation_p.K38R|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Missense_Mutation_p.K38R|SLC43A3_ENST00000395124.1_Missense_Mutation_p.K38R	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	38					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATCTTCATTCTTGAAGACAAA	0.552																																																	0			11											95.0	91.0	92.0					11																	57193533		2201	4296	6497	56950109	SO:0001583	missense	29015			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.113A>G	11.37:g.57193533T>C	ENSP00000378555:p.Lys38Arg		56950109	B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	ENST00000395123.2	37	CCDS7956.1	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688833	0.68271	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005;ENST00000525474;ENST00000529112;ENST00000528187;ENST00000529494;ENST00000533245;ENST00000533235;ENST00000524863;ENST00000532795;ENST00000533051;ENST00000529896;ENST00000526621;ENST00000530316	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	M	0.86651	2.83	0.49798	D	0.999822	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.995	T	0.71377	-0.4611	10	0.25106	T	0.35	-15.2193	13.6946	0.62569	0.0:0.0:0.0:1.0	.	38;38;38	B4DV87;E7EQD2;Q8NBI5	.;.;S43A3_HUMAN	R	38	ENSP00000378555:K38R;ENSP00000378556:K38R;ENSP00000337561:K38R;ENSP00000436254:K38R;ENSP00000434515:K38R;ENSP00000435893:K38R;ENSP00000436055:K38R;ENSP00000434913:K38R;ENSP00000435273:K38R;ENSP00000433974:K38R;ENSP00000431762:K38R;ENSP00000435156:K38R;ENSP00000434569:K38R;ENSP00000435109:K38R;ENSP00000435490:K38R;ENSP00000431367:K38R;ENSP00000434710:K38R	ENSP00000337561:K38R	K	-	2	0	SLC43A3	56950109	1.000000	0.71417	0.909000	0.35828	0.049000	0.14656	6.465000	0.73538	2.057000	0.61298	0.459000	0.35465	AAG		0.552	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000393057.1	NM_017611	
ATG2A	23130	hgsc.bcm.edu	37	11	64674883	64674883	+	Silent	SNP	C	C	T	rs200748453		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:64674883C>T	ENST00000377264.3	-	19	2788	c.2676G>A	c.(2674-2676)tcG>tcA	p.S892S	ATG2A_ENST00000421419.2_Silent_p.S892S	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	892					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CATCCGAGTCCGAGTCTGGGG	0.632													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16120	0.0		0.0	False		,,,				2504	0.0																0			11											54.0	47.0	49.0					11																	64674883		2191	4291	6482	64431459	SO:0001819	synonymous_variant	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.2676G>A	11.37:g.64674883C>T			64431459	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	5.864	0.343495	0.11069	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.33	-6.54	0.01860	.	.	.	.	.	T	0.43411	0.1246	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42344	-0.9457	4	.	.	.	.	4.3031	0.10933	0.1146:0.4647:0.1164:0.3043	.	.	.	.	R	694	.	.	G	-	1	0	ATG2A	64431459	0.017000	0.18338	0.759000	0.31340	0.468000	0.32798	-1.602000	0.02079	-1.495000	0.01831	-1.084000	0.02203	GGA		0.632	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1	NM_015104	
CPT1A	1374	hgsc.bcm.edu	37	11	68575066	68575066	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:68575066C>T	ENST00000265641.5	-	4	476	c.322G>A	c.(322-324)Gtg>Atg	p.V108M	CPT1A_ENST00000376618.2_Missense_Mutation_p.V108M|CPT1A_ENST00000540367.1_Missense_Mutation_p.V108M|CPT1A_ENST00000539743.1_Missense_Mutation_p.V108M	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	108					carnitine metabolic process (GO:0009437)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|eating behavior (GO:0042755)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|glucose metabolic process (GO:0006006)|long-chain fatty acid metabolic process (GO:0001676)|positive regulation of fatty acid beta-oxidation (GO:0032000)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		Glyburide(DB01016)|L-Carnitine(DB00583)|Perhexiline(DB01074)	CCAAACAGCACGCCGCTGACC	0.617																																																	0			11											159.0	116.0	131.0					11																	68575066		2200	4294	6494	68331642	SO:0001583	missense	1374			L39211	CCDS8185.1, CCDS31624.1	11q13.2	2007-07-26				ENSG00000110090	2.3.1.21		2328	protein-coding gene	gene with protein product		600528		CPT1		7892212, 9070950	Standard	NM_001876		Approved	CPT1-L, L-CPT1	uc001oog.4	P50416		ENST00000265641.5:c.322G>A	11.37:g.68575066C>T	ENSP00000265641:p.Val108Met		68331642	Q8TCU0|Q9BWK0	Missense_Mutation	SNP	ENST00000265641.5	37	CCDS8185.1	.	.	.	.	.	.	.	.	.	.	C	9.438	1.087355	0.20390	.	.	ENSG00000110090	ENST00000540367;ENST00000376618;ENST00000265641;ENST00000538308;ENST00000539743	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	6.04	-5.37	0.02681	.	0.693653	0.14398	N	0.322103	T	0.72755	0.3500	M	0.80847	2.515	0.21290	N	0.99973	B;B;B	0.24132	0.068;0.07;0.098	B;B;B	0.25759	0.018;0.042;0.063	T	0.60546	-0.7242	10	0.32370	T	0.25	.	3.9711	0.09454	0.0818:0.3808:0.1611:0.3764	.	108;108;108	B2RAQ8;P50416;P50416-2	.;CPT1A_HUMAN;.	M	108	ENSP00000439084:V108M;ENSP00000365803:V108M;ENSP00000265641:V108M;ENSP00000446108:V108M	ENSP00000265641:V108M	V	-	1	0	CPT1A	68331642	0.000000	0.05858	0.006000	0.13384	0.005000	0.04900	-1.387000	0.02535	-0.557000	0.06126	-0.219000	0.12488	GTG		0.617	CPT1A-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397457.2	NM_001876	
GRIA4	2893	hgsc.bcm.edu	37	11	105797501	105797501	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:105797501T>C	ENST00000530497.1	+	12	1882	c.1882T>C	c.(1882-1884)Tgg>Cgg	p.W628R	GRIA4_ENST00000393127.2_Missense_Mutation_p.W628R|GRIA4_ENST00000282499.5_Missense_Mutation_p.W628R|GRIA4_ENST00000525187.1_Missense_Mutation_p.W628R			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	628					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AGGTGTTTGGTGGTTCTTTAC	0.393																																																	0			11											139.0	139.0	139.0					11																	105797501		2202	4298	6500	105302711	SO:0001583	missense	2893			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.1882T>C	11.37:g.105797501T>C	ENSP00000435775:p.Trp628Arg		105302711	Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	T	24.9	4.579226	0.86645	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.6	5.6	0.85130	Ionotropic glutamate receptor (2);	0.000000	0.64402	D	0.000003	T	0.82033	0.4949	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88285	0.2939	10	0.87932	D	0	.	16.0858	0.81049	0.0:0.0:0.0:1.0	.	628;628	P48058;G3V164	GRIA4_HUMAN;.	R	628	ENSP00000282499:W628R;ENSP00000376835:W628R;ENSP00000435775:W628R;ENSP00000432180:W628R	ENSP00000282499:W628R	W	+	1	0	GRIA4	105302711	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.997000	0.88414	2.264000	0.75181	0.533000	0.62120	TGG		0.393	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1		
HMBS	3145	hgsc.bcm.edu	37	11	118962859	118962859	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:118962859T>C	ENST00000278715.3	+	10	788	c.637T>C	c.(637-639)Tat>Cat	p.Y213H	HMBS_ENST00000544387.1_Missense_Mutation_p.Y213H|HMBS_ENST00000392841.1_Missense_Mutation_p.Y196H|HMBS_ENST00000542729.1_Missense_Mutation_p.Y196H|HMBS_ENST00000537841.1_Missense_Mutation_p.Y196H|HMBS_ENST00000442944.2_Missense_Mutation_p.Y196H|HMBS_ENST00000543090.1_Intron	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	213					heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GGAATGCATGTATGCTGTGGG	0.532																																																	0			11											104.0	89.0	94.0					11																	118962859		2200	4295	6495	118468069	SO:0001583	missense	3145			X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.637T>C	11.37:g.118962859T>C	ENSP00000278715:p.Tyr213His		118468069	A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	ENST00000278715.3	37	CCDS8409.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473863	0.63737	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D	0.99680	-6.38;-6.38;-6.38;-6.38;-6.38;-6.38;-6.38	5.3	5.3	0.74995	Porphobilinogen deaminase, N-terminal (1);	0.112533	0.64402	D	0.000006	D	0.99351	0.9772	L	0.41027	1.25	0.80722	D	1	D;D;B;D	0.69078	0.996;0.996;0.003;0.997	P;P;B;D	0.69824	0.906;0.906;0.047;0.966	D	0.98914	1.0781	10	0.33940	T	0.23	-0.7086	14.5779	0.68262	0.0:0.0:0.0:1.0	.	196;196;213;213	P08397-2;G3V1P4;G5EA58;P08397	.;.;.;HEM3_HUMAN	H	213;196;196;187;213;196;196	ENSP00000278715:Y213H;ENSP00000444730:Y196H;ENSP00000443058:Y196H;ENSP00000445599:Y187H;ENSP00000438424:Y213H;ENSP00000376584:Y196H;ENSP00000392041:Y196H	ENSP00000392041:Y196H	Y	+	1	0	CTD-2589C9.4;HMBS	118468069	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.045000	0.76585	2.220000	0.72140	0.528000	0.53228	TAT		0.532	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399188.1	NM_000190	
KCNJ1	3758	hgsc.bcm.edu	37	11	128710086	128710086	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:128710086C>T	ENST00000392664.2	-	2	226	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	KCNJ1_ENST00000324036.3_Missense_Mutation_p.R18Q|KCNJ1_ENST00000392665.2_Missense_Mutation_p.R18Q|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R18Q|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R18Q	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	37					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	TGCTCTTTGCCGAGAATGCCC	0.418																																																	0			11											134.0	128.0	130.0					11																	128710086		2201	4297	6498	128215296	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.110G>A	11.37:g.128710086C>T	ENSP00000376432:p.Arg37Gln		128215296	B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	7.962	0.747129	0.15710	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.94576	-2.6;-2.6;-2.6;-2.6;-2.56;-3.46	5.66	3.45	0.39498	.	0.436377	0.23407	N	0.048517	D	0.86535	0.5956	N	0.08118	0	0.18873	N	0.999983	B	0.06786	0.001	B	0.04013	0.001	T	0.77536	-0.2551	10	0.40728	T	0.16	.	12.4615	0.55734	0.0:0.8051:0.1217:0.0732	.	37	P48048	IRK1_HUMAN	Q	18;18;18;18;37;18	ENSP00000376433:R18Q;ENSP00000376434:R18Q;ENSP00000406320:R18Q;ENSP00000316233:R18Q;ENSP00000376432:R37Q;ENSP00000316136:R18Q	ENSP00000316136:R18Q	R	-	2	0	KCNJ1	128215296	0.285000	0.24296	0.261000	0.24466	0.098000	0.18820	3.278000	0.51662	1.404000	0.46819	0.455000	0.32223	CGG		0.418	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220	
KCNJ1	3758	hgsc.bcm.edu	37	11	128710105	128710105	+	Missense_Mutation	SNP	G	G	A	rs139738175	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:128710105G>A	ENST00000392664.2	-	2	207	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	KCNJ1_ENST00000324036.3_Missense_Mutation_p.R12C|KCNJ1_ENST00000392665.2_Missense_Mutation_p.R12C|KCNJ1_ENST00000392666.1_Missense_Mutation_p.R12C|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R12C	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	31					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	CCAAAAAAGCGAGTGACGACC	0.398													G|||	2	0.000399361	0.0	0.0	5008	,	,		22652	0.0		0.0	False		,,,				2504	0.002																0			11						G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4402		0,0,2201	119.0	114.0	115.0		91,34,34,34,34	4.6	0.1	11	dbSNP_134	115	2,8592	2.2+/-6.3	0,2,4295	no	missense,missense,missense,missense,missense	KCNJ1	NM_000220.2,NM_153764.1,NM_153765.1,NM_153766.1,NM_153767.2	180,180,180,180,180	0,2,6496	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	31/392,12/373,12/373,12/373,12/373	128710105	2,12994	2201	4297	6498	128215315	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.91C>T	11.37:g.128710105G>A	ENSP00000376432:p.Arg31Cys		128215315	B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	G	4.534	0.099203	0.08681	0.0	2.33E-4	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664;ENST00000324003	D;D;D;D;D;D	0.94828	-2.66;-2.66;-2.66;-2.66;-2.6;-3.53	5.52	4.61	0.57282	.	2.062200	0.02849	U	0.128955	D	0.88883	0.6558	N	0.08118	0	0.09310	N	1	P	0.39116	0.66	B	0.32805	0.153	T	0.80264	-0.1455	10	0.39692	T	0.17	.	14.3601	0.66766	0.0711:0.0:0.9289:0.0	.	31	P48048	IRK1_HUMAN	C	12;12;12;12;31;12	ENSP00000376433:R12C;ENSP00000376434:R12C;ENSP00000406320:R12C;ENSP00000316233:R12C;ENSP00000376432:R31C;ENSP00000316136:R12C	ENSP00000316136:R12C	R	-	1	0	KCNJ1	128215315	0.969000	0.33509	0.053000	0.19242	0.052000	0.14988	4.470000	0.60175	1.344000	0.45657	0.455000	0.32223	CGC		0.398	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220	
GPX5	2880	hgsc.bcm.edu	37	6	28501867	28501867	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:28501867C>T	ENST00000412168.2	+	5	678	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	197					lipid metabolic process (GO:0006629)|response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	CCCTGTCATGCGCTGGTCCCA	0.512																																																	0			6											87.0	88.0	88.0					6																	28501867		2203	4300	6503	28609846	SO:0001583	missense	2880			AJ005277	CCDS4652.1, CCDS4653.1	6p22.1	2008-02-05			ENSG00000224586	ENSG00000224586	1.11.1.9		4557	protein-coding gene	gene with protein product		603435				9639555	Standard	NM_001509		Approved		uc003nll.2	O75715	OTTHUMG00000016307	ENST00000412168.2:c.589C>T	6.37:g.28501867C>T	ENSP00000392398:p.Arg197Cys		28609846	A1A4Y0	Missense_Mutation	SNP	ENST00000412168.2	37	CCDS4652.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975619	0.74360	.	.	ENSG00000224586	ENST00000412168	T	0.05199	3.48	4.52	3.66	0.41972	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.24624	0.0597	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.27773	-1.0064	10	0.87932	D	0	-11.5047	11.2343	0.48931	0.0:0.91:0.0:0.09	.	197	O75715	GPX5_HUMAN	C	197	ENSP00000392398:R197C	ENSP00000392398:R197C	R	+	1	0	GPX5	28609846	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.253000	0.43205	1.504000	0.48704	0.655000	0.94253	CGC		0.512	GPX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043672.2		
UBD	10537	hgsc.bcm.edu	37	6	29523787	29523787	+	Missense_Mutation	SNP	G	G	A	rs149806360	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:29523787G>A	ENST00000377050.4	-	2	591	c.368C>T	c.(367-369)aCg>aTg	p.T123M	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	123	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				aggresome assembly (GO:0070842)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein modification by small protein conjugation (GO:0032446)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to organonitrogen compound (GO:0010243)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	proteasome binding (GO:0070628)			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GATTATACCCGTCTTAGTCTC	0.493													G|||	2	0.000399361	0.0015	0.0	5008	,	,		20835	0.0		0.0	False		,,,				2504	0.0																0			6						G	MET/THR	7,3015		0,7,1504	162.0	133.0	143.0		368	5.2	0.6	6	dbSNP_134	143	2,5416		0,2,2707	yes	missense	UBD	NM_006398.3	81	0,9,4211	AA,AG,GG		0.0369,0.2316,0.1066	probably-damaging	123/166	29523787	9,8431	1511	2709	4220	29631766	SO:0001583	missense	10537			Y12653	CCDS4662.1	6p21.3	2008-04-11			ENSG00000213886	ENSG00000213886			18795	protein-coding gene	gene with protein product		606050				9368598, 8662070	Standard	NM_006398		Approved	FAT10	uc003nmo.3	O15205	OTTHUMG00000031289	ENST00000377050.4:c.368C>T	6.37:g.29523787G>A	ENSP00000366249:p.Thr123Met		29631766	B0UZT6|Q5STL2|Q5SUK2|Q96EC7	Missense_Mutation	SNP	ENST00000377050.4	37	CCDS4662.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.152367	0.38021	0.002316	3.69E-4	ENSG00000213886	ENST00000377050	T	0.75260	-0.92	5.17	5.17	0.71159	Ubiquitin supergroup (1);Ubiquitin (2);	0.213437	0.23060	U	0.052395	T	0.79890	0.4524	M	0.65975	2.015	0.80722	D	1	D	0.71674	0.998	P	0.62740	0.906	T	0.82522	-0.0415	10	0.87932	D	0	-14.0727	14.1737	0.65527	0.0:0.0:1.0:0.0	.	123	O15205	UBD_HUMAN	M	123	ENSP00000366249:T123M	ENSP00000366249:T123M	T	-	2	0	UBD	29631766	0.151000	0.22747	0.552000	0.28243	0.045000	0.14185	2.670000	0.46833	2.390000	0.81377	0.609000	0.83330	ACG		0.493	UBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076628.3		
GABBR1	2550	hgsc.bcm.edu	37	6	29576386	29576386	+	Missense_Mutation	SNP	C	C	T	rs138809665		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:29576386C>T	ENST00000377034.4	-	16	2319	c.1984G>A	c.(1984-1986)Gtc>Atc	p.V662I	GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000377016.4_Missense_Mutation_p.V600I|GABBR1_ENST00000377012.4_Missense_Mutation_p.V545I|GABBR1_ENST00000355973.3_Missense_Mutation_p.V545I	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	662					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	ACCTGGCAGACGAAAGGAAAC	0.547																																																	0			6						C	ILE/VAL,ILE/VAL,ILE/VAL	0,3022		0,0,1511	93.0	80.0	85.0		1984,1633,1798	4.6	1.0	6	dbSNP_134	85	1,5415		0,1,2707	no	missense,missense,missense	GABBR1	NM_001470.2,NM_021903.2,NM_021904.2	29,29,29	0,1,4218	TT,TC,CC		0.0185,0.0,0.0119	benign,benign,benign	662/962,545/845,600/900	29576386	1,8437	1511	2708	4219	29684365	SO:0001583	missense	10537			Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.1984G>A	6.37:g.29576386C>T	ENSP00000366233:p.Val662Ile		29684365	B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	Missense_Mutation	SNP	ENST00000377034.4	37	CCDS4663.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.931|8.931	0.963426|0.963426	0.18583|0.18583	0.0|0.0	1.85E-4|1.85E-4	ENSG00000204681|ENSG00000204681	ENST00000485026|ENST00000355973;ENST00000377016;ENST00000377012;ENST00000377034	.|D;D;D;D	.|0.88431	.|-2.38;-2.38;-2.38;-2.38	4.62|4.62	4.62|4.62	0.57501|0.57501	.|GPCR, family 3, C-terminal (2);	.|0.133902	.|0.49305	.|D	.|0.000157	T|T	0.55673|0.55673	0.1935|0.1935	N|N	0.10782|0.10782	0.045|0.045	0.80722|0.80722	D|D	1|1	.|B;P;B	.|0.40083	.|0.398;0.702;0.06	.|B;B;B	.|0.28638	.|0.035;0.092;0.04	T|T	0.71649|0.71649	-0.4529|-0.4529	5|10	.|0.02654	.|T	.|1	-10.4966|-10.4966	12.8253|12.8253	0.57716|0.57716	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|600;662;545	.|Q9UBS5-3;Q9UBS5;Q5SUJ9	.|.;GABR1_HUMAN;.	H|I	42|545;600;545;662	.|ENSP00000348248:V545I;ENSP00000366215:V600I;ENSP00000366211:V545I;ENSP00000366233:V662I	.|ENSP00000348248:V545I	R|V	-|-	2|1	0|0	GABBR1|GABBR1	29684365|29684365	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.928000|0.928000	0.56348|0.56348	3.371000|3.371000	0.52379|0.52379	2.391000|2.391000	0.81399|0.81399	0.557000|0.557000	0.71058|0.71058	CGT|GTC		0.547	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3		
SPACA1	81833	hgsc.bcm.edu	37	6	88763681	88763681	+	Missense_Mutation	SNP	G	G	A	rs373094172		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:88763681G>A	ENST00000237201.1	+	2	343	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	76					acrosome assembly (GO:0001675)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAGGAATGTCGTCAAAGAAGT	0.348																																																	0			6						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	87.0	85.0	86.0		226	1.9	0.4	6		86	0,8600		0,0,4300	no	missense	SPACA1	NM_030960.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	76/295	88763681	1,13005	2203	4300	6503	88820400	SO:0001583	missense	81833			AF203447	CCDS5014.1	6q15	2012-09-20			ENSG00000118434	ENSG00000118434			14967	protein-coding gene	gene with protein product		612739					Standard	NM_030960		Approved	SAMP32	uc003pmn.3	Q9HBV2	OTTHUMG00000015183	ENST00000237201.1:c.226G>A	6.37:g.88763681G>A	ENSP00000237201:p.Val76Ile		88820400		Missense_Mutation	SNP	ENST00000237201.1	37	CCDS5014.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.341902	0.24339	2.27E-4	0.0	ENSG00000118434	ENST00000237201	T	0.21734	1.99	5.97	1.93	0.25924	.	0.811387	0.10979	N	0.612887	T	0.06462	0.0166	M	0.65975	2.015	0.09310	N	1	B	0.33494	0.414	B	0.21360	0.034	T	0.35325	-0.9793	10	0.56958	D	0.05	-6.9977	1.9497	0.03364	0.1539:0.1154:0.3434:0.3873	.	76	Q9HBV2	SACA1_HUMAN	I	76	ENSP00000237201:V76I	ENSP00000237201:V76I	V	+	1	0	SPACA1	88820400	0.792000	0.28813	0.363000	0.25875	0.182000	0.23217	0.669000	0.25142	0.388000	0.25054	0.650000	0.86243	GTC		0.348	SPACA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041459.1		
GJA10	84694	hgsc.bcm.edu	37	6	90604409	90604409	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:90604409G>T	ENST00000369352.1	+	1	222	c.222G>T	c.(220-222)ttG>ttT	p.L74F		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	74					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTATCTCTTTGATCAGGTTCT	0.463																																																	0			6											151.0	119.0	130.0					6																	90604409		2203	4300	6503	90661130	SO:0001583	missense	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.222G>T	6.37:g.90604409G>T	ENSP00000358358:p.Leu74Phe		90661130	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	ENST00000369352.1	37	CCDS5025.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659346	0.47467	.	.	ENSG00000135355	ENST00000369352	D	0.99089	-5.41	4.8	3.93	0.45458	Connexin, N-terminal (2);	0.000000	0.64402	D	0.000002	D	0.98592	0.9529	M	0.71581	2.175	0.42198	D	0.991751	D	0.89917	1.0	D	0.97110	1.0	D	0.98239	1.0487	10	0.37606	T	0.19	.	8.2989	0.32001	0.0788:0.0:0.7672:0.1539	.	74	Q969M2	CXA10_HUMAN	F	74	ENSP00000358358:L74F	ENSP00000358358:L74F	L	+	3	2	GJA10	90661130	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.180000	0.42537	1.259000	0.44117	0.563000	0.77884	TTG		0.463	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041505.1	NM_032602	
POPDC3	64208	hgsc.bcm.edu	37	6	105609486	105609486	+	Missense_Mutation	SNP	C	C	A	rs202226180		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:105609486C>A	ENST00000254765.3	-	2	577	c.299G>T	c.(298-300)cGc>cTc	p.R100L	BVES-AS1_ENST00000580511.1_RNA|POPDC3_ENST00000474760.1_Intron|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	100					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GGTTATGCTGCGAACTTGATA	0.448																																																	0			6											169.0	181.0	177.0					6																	105609486		2203	4300	6503	105716179	SO:0001583	missense	64208			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.299G>T	6.37:g.105609486C>A	ENSP00000254765:p.Arg100Leu		105716179	B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	ENST00000254765.3	37	CCDS5052.1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.779357	0.49891	.	.	ENSG00000132429	ENST00000254765	T	0.41065	1.01	5.72	-1.73	0.08081	.	0.263445	0.40469	N	0.001081	T	0.28200	0.0696	M	0.81112	2.525	0.48395	D	0.999643	B	0.31193	0.312	B	0.35114	0.196	T	0.18398	-1.0338	10	0.51188	T	0.08	-18.9645	10.9808	0.47492	0.0:0.5467:0.0:0.4533	.	100	Q9HBV1	POPD3_HUMAN	L	100	ENSP00000254765:R100L	ENSP00000254765:R100L	R	-	2	0	POPDC3	105716179	1.000000	0.71417	0.934000	0.37439	0.987000	0.75469	1.570000	0.36439	-0.737000	0.04824	-0.302000	0.09304	CGC		0.448	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361	
ROS1	6098	hgsc.bcm.edu	37	6	117645564	117645564	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:117645564G>T	ENST00000368508.3	-	34	5770	c.5572C>A	c.(5572-5574)Cca>Aca	p.P1858T	ROS1_ENST00000368507.3_Missense_Mutation_p.P1852T|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1858					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTGTTTCTGGTATCCAAAAA	0.294			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0			6											36.0	39.0	38.0					6																	117645564		2199	4282	6481	117752257	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5572C>A	6.37:g.117645564G>T	ENSP00000357494:p.Pro1858Thr		117752257	Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	3.590	-0.083761	0.07141	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.70869	-0.51;-0.52	5.41	1.5	0.22942	.	0.215706	0.32473	N	0.006051	T	0.20373	0.0490	N	0.12182	0.205	0.80722	D	1	B	0.13145	0.007	B	0.12156	0.007	T	0.13150	-1.0520	10	0.09590	T	0.72	.	2.383	0.04358	0.1695:0.1429:0.5301:0.1574	.	1858	P08922	ROS1_HUMAN	T	1858;1852	ENSP00000357494:P1858T;ENSP00000357493:P1852T	ENSP00000357493:P1852T	P	-	1	0	ROS1	117752257	0.996000	0.38824	0.975000	0.42487	0.995000	0.86356	1.257000	0.32932	0.049000	0.15920	0.650000	0.86243	CCA		0.294	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		
FAM184A	79632	hgsc.bcm.edu	37	6	119324168	119324168	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:119324168C>T	ENST00000338891.7	-	9	2427	c.1984G>A	c.(1984-1986)Gag>Aag	p.E662K	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.E542K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E542K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E662K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	662						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTCTTATCCTCTTCATGTTGA	0.348																																																	0			6											125.0	117.0	119.0					6																	119324168		1855	4097	5952	119365867	SO:0001583	missense	79632			BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.1984G>A	6.37:g.119324168C>T	ENSP00000342604:p.Glu662Lys		119365867	B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	CCDS43499.1	.	.	.	.	.	.	.	.	.	.	C	35	5.457285	0.96223	.	.	ENSG00000111879	ENST00000338891;ENST00000352896;ENST00000368475;ENST00000521531	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.97	5.97	0.96955	.	0.052158	0.85682	D	0.000000	T	0.45617	0.1351	L	0.48362	1.52	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.80764	0.991;0.994;0.994	T	0.04065	-1.0980	10	0.21014	T	0.42	-18.3092	20.4238	0.99064	0.0:1.0:0.0:0.0	.	662;542;662	Q8NB25-2;F8W8D6;Q8NB25	.;.;F184A_HUMAN	K	662;542;542;662	ENSP00000342604:E662K;ENSP00000326608:E542K;ENSP00000357460:E542K;ENSP00000430442:E662K	ENSP00000342604:E662K	E	-	1	0	FAM184A	119365867	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.467000	0.73547	2.834000	0.97654	0.650000	0.86243	GAG		0.348	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581	
AKAP12	9590	hgsc.bcm.edu	37	6	151672397	151672397	+	Missense_Mutation	SNP	C	C	A	rs377313534		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:151672397C>A	ENST00000253332.1	+	3	3060	c.2871C>A	c.(2869-2871)aaC>aaA	p.N957K	AKAP12_ENST00000359755.5_Missense_Mutation_p.N852K|AKAP12_ENST00000354675.6_Missense_Mutation_p.N859K|AKAP12_ENST00000402676.2_Missense_Mutation_p.N957K			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	957					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGCCAGAGAACAGAGAGGCCC	0.542																																					Melanoma(141;1616 1805 10049 24534 51979)												0			6						C	LYS/ASN,LYS/ASN	0,4406		0,0,2203	54.0	60.0	58.0		2871,2577	-0.7	0.0	6		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	AKAP12	NM_005100.3,NM_144497.2	94,94	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign,benign	957/1783,859/1685	151672397	1,13005	2203	4300	6503	151714090	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.2871C>A	6.37:g.151672397C>A	ENSP00000253332:p.Asn957Lys		151714090	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	37	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	C	6.636	0.485830	0.12641	0.0	1.16E-4	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.06068	3.35;3.35;3.36;3.36	5.06	-0.709	0.11237	.	1.377270	0.04726	N	0.420302	T	0.00815	0.0027	N	0.22421	0.69	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.001	B;B;B	0.09377	0.004;0.004;0.002	T	0.38628	-0.9652	10	0.06236	T	0.91	.	0.3306	0.00317	0.2018:0.3041:0.2084:0.2857	.	852;859;957	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	K	957;957;859;852	ENSP00000384537:N957K;ENSP00000253332:N957K;ENSP00000346702:N859K;ENSP00000352794:N852K	ENSP00000253332:N957K	N	+	3	2	AKAP12	151714090	0.000000	0.05858	0.014000	0.15608	0.169000	0.22640	0.150000	0.16263	0.111000	0.17947	0.462000	0.41574	AAC		0.542	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
TCP1	6950	hgsc.bcm.edu	37	6	160206464	160206464	+	Silent	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:160206464G>A	ENST00000321394.7	-	5	722	c.442C>T	c.(442-444)Ctg>Ttg	p.L148L	TCP1_ENST00000392168.2_5'UTR|TCP1_ENST00000544255.1_Intron|TCP1_ENST00000420894.2_Silent_p.L148L|SNORA29_ENST00000384183.1_RNA	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	148					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|tubulin complex assembly (GO:0007021)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|nuclear heterochromatin (GO:0005720)|pericentriolar material (GO:0000242)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		GCATTAATCAGGCAATCTCTT	0.353																																																	0			6											196.0	172.0	180.0					6																	160206464		2203	4300	6503	160126454	SO:0001819	synonymous_variant	6950			X52882	CCDS5269.1, CCDS43522.1	6q25-q27	2012-10-02			ENSG00000120438	ENSG00000120438		"""Heat Shock Proteins / Chaperonins"""	11655	protein-coding gene	gene with protein product		186980				3476253, 3653076	Standard	NM_030752		Approved	D6S230E, CCT1, Ccta	uc003qsr.3	P17987	OTTHUMG00000015937	ENST00000321394.7:c.442C>T	6.37:g.160206464G>A			160126454	E1P5B2|Q15556|Q5TCM3	Silent	SNP	ENST00000321394.7	37	CCDS5269.1																																																																																				0.353	TCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042917.2	NM_030752	
MAP3K4	4216	hgsc.bcm.edu	37	6	161510473	161510473	+	Silent	SNP	G	G	A	rs368962247		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:161510473G>A	ENST00000392142.4	+	11	3091	c.2943G>A	c.(2941-2943)ccG>ccA	p.P981P	MAP3K4_ENST00000366920.2_Silent_p.P981P|MAP3K4_ENST00000348824.7_Silent_p.P981P|MAP3K4_ENST00000366919.2_Silent_p.P981P	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	981					activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCAGTCAGCCGGTCATCGCCA	0.463																																																	0			6											131.0	131.0	131.0					6																	161510473		2203	4300	6503	161430463	SO:0001819	synonymous_variant	4216			AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.2943G>A	6.37:g.161510473G>A			161430463	A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Silent	SNP	ENST00000392142.4	37	CCDS34565.1																																																																																				0.463	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3		
RP3-470B24.5	0	hgsc.bcm.edu	37	6	168377187	168377187	+	lincRNA	SNP	A	A	G	rs200842645		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:168377187A>G	ENST00000538528.1	-	0	432																											TTGGGAGGAGAAGACAGTGGG	0.617																																																	0			6											5.0	6.0	5.0					6																	168377187		667	1519	2186	168120036			100128124																															6.37:g.168377187A>G			168120036		Missense_Mutation	SNP	ENST00000538528.1	37																																																																																					0.617	RP3-470B24.5-201	KNOWN	basic	lincRNA	lincRNA			
OR1A2	26189	hgsc.bcm.edu	37	17	3101437	3101437	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr17:3101437C>T	ENST00000381951.1	+	1	625	c.625C>T	c.(625-627)Cca>Tca	p.P209S		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	209					positive regulation of cytokinesis (GO:0032467)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTTCTCTTTGCCATTACTATG	0.438																																																	0			17											244.0	204.0	218.0					17																	3101437		2203	4300	6503	3048187	SO:0001583	missense	26189			AF155225	CCDS11021.1	17p13.3	2012-08-09			ENSG00000172150	ENSG00000172150		"""GPCR / Class A : Olfactory receptors"""	8180	protein-coding gene	gene with protein product						10673334	Standard	NM_012352		Approved	OR17-6	uc002fvd.1	Q9Y585	OTTHUMG00000090638	ENST00000381951.1:c.625C>T	17.37:g.3101437C>T	ENSP00000371377:p.Pro209Ser		3048187	Q3KPH3|Q6IFM0|Q6NTD8|Q96R86	Missense_Mutation	SNP	ENST00000381951.1	37	CCDS11021.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.392319	0.25118	.	.	ENSG00000172150	ENST00000381951	T	0.55930	0.49	4.09	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000156	T	0.55257	0.1909	L	0.50847	1.595	0.09310	N	1	D	0.55605	0.972	P	0.56216	0.794	T	0.50154	-0.8861	10	0.62326	D	0.03	.	5.9807	0.19405	0.0:0.6993:0.1965:0.1042	.	209	Q9Y585	OR1A2_HUMAN	S	209	ENSP00000371377:P209S	ENSP00000371377:P209S	P	+	1	0	OR1A2	3048187	0.000000	0.05858	0.612000	0.29024	0.055000	0.15305	-0.285000	0.08410	2.282000	0.76494	0.609000	0.83330	CCA		0.438	OR1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207293.1	NM_012352	
ITGB3	3690	hgsc.bcm.edu	37	17	45384950	45384950	+	Nonsense_Mutation	SNP	C	C	T	rs121918450		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr17:45384950C>T	ENST00000559488.1	+	14	2264	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*	ITGB3_ENST00000435993.2_Nonsense_Mutation_p.R703*|RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000560629.1_Missense_Mutation_p.P738L|RP11-290H9.4_ENST00000576345.1_RNA	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	750					activation of protein kinase activity (GO:0032147)|angiogenesis involved in wound healing (GO:0060055)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mesodermal cell differentiation (GO:0048333)|negative chemotaxis (GO:0050919)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein folding (GO:0006457)|regulation of bone resorption (GO:0045124)|smooth muscle cell migration (GO:0014909)|substrate adhesion-dependent cell spreading (GO:0034446)|tube development (GO:0035295)|viral entry into host cell (GO:0046718)|wound healing (GO:0042060)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|melanosome (GO:0042470)|microvillus membrane (GO:0031528)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|receptor complex (GO:0043235)|ruffle membrane (GO:0032587)	cell adhesion molecule binding (GO:0050839)|extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|identical protein binding (GO:0042802)|platelet-derived growth factor receptor binding (GO:0005161)|protease binding (GO:0002020)|protein disulfide isomerase activity (GO:0003756)|receptor activity (GO:0004872)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Antithymocyte globulin(DB00098)|Eptifibatide(DB00063)|Tirofiban(DB00775)	CATCCACGACCGAAAAGAATT	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18650	0.0		0.0	False		,,,				2504	0.0																0			17	GRCh37	CM973033	ITGB3	M	rs121918450	C	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	75.0	59.0	64.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2248	5.5	1.0	17	dbSNP_133	64	0,8600		0,0,4300	yes	stop-gained	ITGB3	NM_000212.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		750/789	45384950	2,13004	2203	4300	6503	42739949	SO:0001587	stop_gained	3690				CCDS11511.1	17q21.32	2014-09-17			ENSG00000259207	ENSG00000259207		"""CD molecules"", ""Integrins"""	6156	protein-coding gene	gene with protein product	"""platelet glycoprotein IIIa"""	173470		GP3A		2454952	Standard	NM_000212		Approved	CD61, GPIIIa	uc002ilj.3	P05106	OTTHUMG00000171956	ENST00000559488.1:c.2248C>T	17.37:g.45384950C>T	ENSP00000452786:p.Arg750*		42739949	A0PJW2|D3DXJ8|O15495|Q12806|Q13413|Q14648|Q16499	Nonsense_Mutation	SNP	ENST00000559488.1	37	CCDS11511.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	39	7.667214	0.98422	4.54E-4	0.0	ENSG00000178852	ENST00000262017;ENST00000435993	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4681	0.90762	0.0:1.0:0.0:0.0	.	.	.	.	X	750;703	.	ENSP00000262017:R750X	R	+	1	2	C17orf57	42739949	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.061000	0.49963	2.720000	0.93068	0.557000	0.71058	CGA		0.532	ITGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416111.3	NM_000212	
BAHCC1	57597	hgsc.bcm.edu	37	17	79428601	79428601	+	Silent	SNP	C	C	T	rs61738790	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr17:79428601C>T	ENST00000307745.7	+	30	6912	c.6912C>T	c.(6910-6912)gcC>gcT	p.A2304A	RP11-1055B8.8_ENST00000572590.1_RNA																							GGCTGGCGGCCGGCGTGCCCT	0.701													C|||	304	0.0607029	0.1203	0.0504	5008	,	,		9369	0.0		0.0905	False		,,,				2504	0.0194																0			17						C		263,3537		5,253,1642	4.0	7.0	6.0		6741	-0.9	0.0	17	dbSNP_129	6	492,7332		15,462,3435	no	coding-synonymous	BAHCC1	NM_001080519.2		20,715,5077	TT,TC,CC		6.2883,6.9211,6.4952		2247/2552	79428601	755,10869	1900	3912	5812	77043196	SO:0001819	synonymous_variant	57597																														ENST00000307745.7:c.6912C>T	17.37:g.79428601C>T			77043196		Silent	SNP	ENST00000307745.7	37																																																																																					0.701	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			
NARF	26502	hgsc.bcm.edu	37	17	80446002	80446002	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr17:80446002G>A	ENST00000309794.11	+	11	1538	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	NARF_ENST00000457415.3_Missense_Mutation_p.R493H|NARF_ENST00000345415.7_Missense_Mutation_p.R399H|NARF_ENST00000390006.4_Missense_Mutation_p.R388H	NM_012336.3|NM_031968.2	NP_036468.1|NP_114174.1	Q9UHQ1	NARF_HUMAN	nuclear prelamin A recognition factor	447						lamin filament (GO:0005638)|nuclear lamina (GO:0005652)|nuclear lumen (GO:0031981)|nucleus (GO:0005634)	lamin binding (GO:0005521)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			AGCCAGGAGCGTGGCACACAC	0.627																																																	0			17											76.0	65.0	69.0					17																	80446002		2203	4300	6503	78039291	SO:0001583	missense	51444			BC000438	CCDS32777.1, CCDS42403.1, CCDS42404.1	17q25.3	2011-12-19			ENSG00000141562	ENSG00000141562			29916	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 2"""	605349				10514485, 15667261	Standard	NM_031968		Approved	FLJ10067, DKFZp434G0420, IOP2	uc002kfg.4	Q9UHQ1		ENST00000309794.11:c.1340G>A	17.37:g.80446002G>A	ENSP00000309899:p.Arg447His		78039291	A6NCJ3|B3KPX2|K4DI98|Q96AY9|Q9BWC6	Missense_Mutation	SNP	ENST00000309794.11	37	CCDS32777.1	.	.	.	.	.	.	.	.	.	.	.	5.889	0.348092	0.11126	.	.	ENSG00000141562	ENST00000390006;ENST00000374611;ENST00000309794;ENST00000345415	T;T;T	0.47177	0.85;0.85;0.85	5.19	-10.4	0.00318	Iron hydrogenase, small subunit-like (1);	2.114340	0.01730	N	0.028785	T	0.24661	0.0598	N	0.16790	0.44	0.20074	N	0.999938	B;B;B;B	0.06786	0.001;0.001;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.001;0.001	T	0.33979	-0.9847	10	0.66056	D	0.02	-20.823	0.8901	0.01252	0.4179:0.1362:0.2135:0.2324	.	493;399;494;447	Q9UHQ1-2;Q9UHQ1-3;E9PH27;Q9UHQ1	.;.;.;NARF_HUMAN	H	388;494;447;399	ENSP00000374656:R388H;ENSP00000309899:R447H;ENSP00000283996:R399H	ENSP00000309899:R447H	R	+	2	0	NARF	78039291	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.523000	0.00442	-5.016000	0.00024	-2.255000	0.00281	CGT		0.627	NARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443573.2	NM_031968	
OLIG2	10215	hgsc.bcm.edu	37	21	34399549	34399549	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr21:34399549G>A	ENST00000333337.3	+	1	1307	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	AP000282.2_ENST00000454622.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.A127T|AP000282.2_ENST00000420356.1_RNA			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	127	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				myelination (GO:0042552)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|positive regulation of oligodendrocyte differentiation (GO:0048714)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|thalamus development (GO:0021794)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|central_nervous_system(2)	3						CCTCAACATCGCCATGGATGG	0.607			T	TRA@	T-ALL																																			Dom	yes		21	21q22.11	10215	oligodendrocyte lineage transcription factor 2 (BHLHB1)		L	0			21											31.0	27.0	28.0					21																	34399549		2203	4300	6503	33321419	SO:0001583	missense	10215			U48250	CCDS13620.1	21q22.11	2013-05-21	2001-12-04	2001-12-07	ENSG00000205927	ENSG00000205927		"""Basic helix-loop-helix proteins"""	9398	protein-coding gene	gene with protein product	"""oligodendrocyte-specific bHLH transcription factor 2"", ""protein kinase C binding protein 2"", ""human protein kinase C-binding protein RACK17"", ""basic domain, helix-loop-helix protein, class B, 1"""	606386	"""protein kinase C binding protein 2"""	PRKCBP2, BHLHB1		11526205	Standard	NM_005806		Approved	RACK17, OLIGO2, bHLHe19	uc002yqx.2	Q13516	OTTHUMG00000065032	ENST00000333337.3:c.379G>A	21.37:g.34399549G>A	ENSP00000331040:p.Ala127Thr		33321419	B3KRF3|Q05BP9|Q49AL3|Q86X04|Q9NZ14	Missense_Mutation	SNP	ENST00000333337.3	37	CCDS13620.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625834	0.87560	.	.	ENSG00000205927	ENST00000382357;ENST00000333337	D;D	0.98329	-4.87;-4.87	3.27	2.36	0.29203	Helix-loop-helix DNA-binding (5);	0.000000	0.64402	U	0.000001	D	0.99026	0.9667	M	0.93462	3.42	0.52099	D	0.999945	D	0.89917	1.0	D	0.97110	1.0	D	0.99391	1.0925	10	0.87932	D	0	-0.0055	11.1574	0.48495	0.0:0.1892:0.8108:0.0	.	127	Q13516	OLIG2_HUMAN	T	127	ENSP00000371794:A127T;ENSP00000331040:A127T	ENSP00000331040:A127T	A	+	1	0	OLIG2	33321419	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.745000	0.85046	0.530000	0.28619	0.462000	0.41574	GCC		0.607	OLIG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139663.1	NM_005806	
TMEM50B	757	hgsc.bcm.edu	37	21	34832756	34832756	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr21:34832756A>G	ENST00000542230.2	-	5	551	c.337T>C	c.(337-339)Tcc>Ccc	p.S113P		NM_006134.6	NP_006125.2	P56557	TM50B_HUMAN	transmembrane protein 50B	113						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|ovary(1)|skin(1)	4						ATCCACATGGAAGCAATAAGT	0.343																																																	0			21											80.0	73.0	75.0					21																	34832756		2203	4300	6503	33754626	SO:0001583	missense	757			AF045606	CCDS13625.1	21q22.1	2008-07-29	2005-06-02	2005-06-02	ENSG00000142188	ENSG00000142188			1280	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 4"""	C21orf4			Standard	NR_040016		Approved		uc002yrs.2	P56557	OTTHUMG00000065286	ENST00000542230.2:c.337T>C	21.37:g.34832756A>G	ENSP00000439768:p.Ser113Pro		33754626	B2R4L4|D3DSF1|O60537|Q5PY47	Missense_Mutation	SNP	ENST00000542230.2	37	CCDS13625.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.795918	0.90453	.	.	ENSG00000142188	ENST00000542230;ENST00000440644	T	0.39592	1.07	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.67599	0.2910	M	0.84846	2.72	0.80722	D	1	D	0.61080	0.989	D	0.71656	0.974	T	0.73455	-0.3977	10	0.72032	D	0.01	-32.5255	14.8382	0.70201	1.0:0.0:0.0:0.0	.	113	P56557	TM50B_HUMAN	P	113	ENSP00000439768:S113P	ENSP00000371390:S113P	S	-	1	0	TMEM50B	33754626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.529000	0.90602	2.197000	0.70478	0.528000	0.53228	TCC		0.343	TMEM50B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140080.5		
MORC3	23515	hgsc.bcm.edu	37	21	37734524	37734524	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr21:37734524C>T	ENST00000400485.1	+	13	1526	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	MORC3_ENST00000487909.1_3'UTR|AP000692.9_ENST00000397184.2_RNA	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	484					cell aging (GO:0007569)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of fibroblast proliferation (GO:0048147)|peptidyl-serine phosphorylation (GO:0018105)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)	PML body (GO:0016605)	zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AATGATCCCTCGGGTAATTAA	0.393																																																	0			21											49.0	48.0	49.0					21																	37734524		1800	4056	5856	36656394	SO:0001583	missense	23515			AK025327	CCDS42924.1	21q22.13	2005-06-15	2005-06-15	2005-06-15	ENSG00000159256	ENSG00000159256			23572	protein-coding gene	gene with protein product		610078	"""zinc finger, CW-type with coiled-coil domain 3"", ""zinc finger, CW type with coiled-coil domain 3"""	ZCWCC3		14607086	Standard	NM_015358		Approved	ZCW5, NXP2, KIAA0136	uc002yvi.3	Q14149	OTTHUMG00000086620	ENST00000400485.1:c.1450C>T	21.37:g.37734524C>T	ENSP00000383333:p.Arg484Trp		36656394	A8KA92|Q9UEZ2	Missense_Mutation	SNP	ENST00000400485.1	37	CCDS42924.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.558398	0.65538	.	.	ENSG00000159256	ENST00000400485	T	0.15372	2.43	5.23	5.23	0.72850	.	1.692110	0.02406	N	0.081176	T	0.22589	0.0545	L	0.51422	1.61	0.29135	N	0.879388	D	0.56968	0.978	B	0.40410	0.328	T	0.33266	-0.9875	10	0.72032	D	0.01	-0.0279	11.721	0.51683	0.1764:0.8236:0.0:0.0	.	484	Q14149	MORC3_HUMAN	W	484	ENSP00000383333:R484W	ENSP00000383333:R484W	R	+	1	2	MORC3	36656394	0.794000	0.28838	0.994000	0.49952	0.809000	0.45718	3.336000	0.52113	2.613000	0.88420	0.563000	0.77884	CGG		0.393	MORC3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000194640.1	NM_015358	
MPG	4350	hgsc.bcm.edu	37	16	138772	138772	+	IGR	SNP	A	A	G	rs57321480|rs397815833		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr16:138772A>G	ENST00000219431.4	+	0	1193				NPRL3_ENST00000405960.3_5'UTR|Z69720.2_ENST00000601483.1_RNA|NPRL3_ENST00000399953.3_Splice_Site|NPRL3_ENST00000399951.3_Missense_Mutation_p.L310P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase						base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)	alkylbase DNA N-glycosylase activity (GO:0003905)|damaged DNA binding (GO:0003684)|DNA-3-methyladenine glycosylase activity (GO:0008725)|DNA-3-methylguanine glycosylase activity (GO:0052822)|DNA-7-methyladenine glycosylase activity (GO:0052821)|DNA-7-methylguanine glycosylase activity (GO:0043916)			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ATGCTCCGACAGCTGGCCAGC	0.627								Base excision repair (BER), DNA glycosylases																																									0			16											45.0	57.0	53.0					16																	138772		2182	4277	6459	78772	SO:0001628	intergenic_variant	0				CCDS32345.1, CCDS32346.1, CCDS42087.1	16p13.3	2008-07-29			ENSG00000103152	ENSG00000103152	3.2.2.21		7211	protein-coding gene	gene with protein product	"""alkyladenine DNA glycosylase"""	156565				1874728	Standard	NM_002434		Approved	MDG	uc002cfo.4	P29372	OTTHUMG00000047887		16.37:g.138772A>G			78772	G5E9E2|Q13770|Q15275|Q15961|Q5J9I4|Q96BZ6|Q96S33|Q9NNX5	Missense_Mutation	SNP	ENST00000219431.4	37	CCDS32346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.5|23.5	4.421760|4.421760	0.83559|0.83559	.|.	.|.	ENSG00000103148|ENSG00000103148	ENST00000399953;ENST00000399953;ENST00000262313;ENST00000262313|ENST00000399951	.|.	.|.	.|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76926	.|0.4056	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.65815	.|0.995	.|D	.|0.75484	.|0.986	.|T	.|0.75596	.|-0.3263	.|7	.|0.32370	.|T	.|0.25	.|-15.9647	14.7919|14.7919	0.69848|0.69848	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|490	.|Q12980	.|NPRL3_HUMAN	.|P	-1|310	.|.	.|ENSP00000382832:L310P	.|L	-|-	.|2	.|0	NPRL3|NPRL3	78772|78772	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.958000|0.958000	0.62258|0.62258	9.026000|9.026000	0.93700|0.93700	2.094000|2.094000	0.63399|0.63399	0.459000|0.459000	0.35465|0.35465	.|CTG		0.627	MPG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109121.4		
C16orf71	146562	hgsc.bcm.edu	37	16	4797375	4797375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr16:4797375C>T	ENST00000299320.5	+	9	1790	c.1312C>T	c.(1312-1314)Cag>Tag	p.Q438*	C16orf71_ENST00000590191.1_Nonsense_Mutation_p.Q455*|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	438										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						GCTTCTCCAGCAGCTCAGGGC	0.637																																																	0			16											49.0	57.0	54.0					16																	4797375		2189	4286	6475	4737376	SO:0001587	stop_gained	146562			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.1312C>T	16.37:g.4797375C>T	ENSP00000299320:p.Gln438*		4737376	Q8NCV0	Nonsense_Mutation	SNP	ENST00000299320.5	37	CCDS10521.1	.	.	.	.	.	.	.	.	.	.	C	39	7.342272	0.98224	.	.	ENSG00000166246	ENST00000299320;ENST00000411541	.	.	.	4.56	4.56	0.56223	.	0.348811	0.22057	N	0.065232	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-17.8458	13.0108	0.58729	0.0:1.0:0.0:0.0	.	.	.	.	X	438;193	.	ENSP00000299320:Q438X	Q	+	1	0	C16orf71	4737376	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	1.816000	0.38992	2.521000	0.84997	0.462000	0.41574	CAG		0.637	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251644.1	NM_139170	
ABCC1	4363	hgsc.bcm.edu	37	16	16232299	16232299	+	Silent	SNP	G	G	A	rs202222707		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr16:16232299G>A	ENST00000399410.3	+	30	4546	c.4371G>A	c.(4369-4371)acG>acA	p.T1457T	ABCC1_ENST00000349029.5_Silent_p.T1342T|ABCC1_ENST00000346370.5_Silent_p.T1401T|ABCC1_ENST00000351154.5_Silent_p.T1398T|ABCC1_ENST00000399408.2_Silent_p.T1467T|ABCC1_ENST00000345148.5_Intron	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1457	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	ATGAGGCCACGGCAGCCGTGG	0.607													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15304	0.0		0.0	False		,,,				2504	0.0																0			16											46.0	51.0	49.0					16																	16232299		2078	4212	6290	16139800	SO:0001819	synonymous_variant	4363			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.4371G>A	16.37:g.16232299G>A			16139800	A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	CCDS42122.1																																																																																				0.607	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
CES5A	221223	hgsc.bcm.edu	37	16	55880487	55880487	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr16:55880487C>T	ENST00000290567.9	-	13	1725	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q	CES5A_ENST00000521992.1_Missense_Mutation_p.R564Q|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000319165.9_Missense_Mutation_p.R485Q|CES5A_ENST00000518005.1_Missense_Mutation_p.R429Q|CES5A_ENST00000520435.1_Missense_Mutation_p.R505Q	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	535						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAAATCCACCCGCGGTTCTTT	0.532																																																	0			16											212.0	208.0	210.0					16																	55880487		2198	4300	6498	54437988	SO:0001583	missense	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1604G>A	16.37:g.55880487C>T	ENSP00000290567:p.Arg535Gln		54437988	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	.	.	.	.	.	.	.	.	.	.	.	13.07	2.127442	0.37533	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21;-0.21	5.61	-0.403	0.12400	Carboxylesterase, type B (1);	1.250620	0.05566	N	0.570143	T	0.40886	0.1135	N	0.16790	0.44	0.09310	N	1	P;B	0.39404	0.672;0.007	B;B	0.31686	0.134;0.005	T	0.17776	-1.0358	10	0.11485	T	0.65	.	5.0479	0.14494	0.0:0.4453:0.1445:0.4102	.	535;485	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	Q	564;485;429;535;505;315	ENSP00000428864:R564Q;ENSP00000324271:R485Q;ENSP00000428571:R429Q;ENSP00000290567:R535Q;ENSP00000428887:R505Q	ENSP00000290567:R535Q	R	-	2	0	CES5A	54437988	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.075000	0.14686	-0.195000	0.10382	-0.119000	0.15052	CGG		0.532	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	
NIP7	51388	hgsc.bcm.edu	37	16	69375484	69375484	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr16:69375484C>T	ENST00000254940.5	+	5	872	c.472C>T	c.(472-474)Ccc>Tcc	p.P158S	RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron|NIP7_ENST00000254941.6_Missense_Mutation_p.P111S|COG8_ENST00000306875.4_5'Flank|COG8_ENST00000562081.1_5'Flank	NM_016101.4	NP_057185.1	Q9Y221	NIP7_HUMAN	NIP7, nucleolar pre-rRNA processing protein	158	C-terminal domain.|PUA. {ECO:0000255|PROSITE- ProRule:PRU00161}.				ribosome assembly (GO:0042255)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Ovarian(137;0.101)				AAAAGTAGACCCCATGGCGAT	0.463																																																	0			16											121.0	120.0	120.0					16																	69375484		2198	4300	6498	67932985	SO:0001583	missense	51388			AB112439	CCDS10877.1, CCDS56003.1	16q22.1	2013-03-04	2013-03-04		ENSG00000132603	ENSG00000132603			24328	protein-coding gene	gene with protein product			"""nuclear import 7 homolog (S. cerevisiae)"""			14660641, 22195017	Standard	NM_016101		Approved	CGI-37, FLJ10296, HSPC031, KD93	uc002exa.3	Q9Y221	OTTHUMG00000137568	ENST00000254940.5:c.472C>T	16.37:g.69375484C>T	ENSP00000254940:p.Pro158Ser		67932985	B2RD04|Q9NZZ0	Missense_Mutation	SNP	ENST00000254940.5	37	CCDS10877.1	.	.	.	.	.	.	.	.	.	.	C	32	5.127556	0.94473	.	.	ENSG00000132603	ENST00000254940;ENST00000254941	.	.	.	5.44	5.44	0.79542	Pseudouridine synthase/archaeosine transglycosylase (2);PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.82986	0.5156	M	0.90542	3.125	0.80722	D	1	D;P	0.53619	0.961;0.622	P;P	0.55391	0.775;0.498	D	0.86117	0.1566	9	0.66056	D	0.02	-17.3855	19.6311	0.95701	0.0:1.0:0.0:0.0	.	111;158	Q9Y221-2;Q9Y221	.;NIP7_HUMAN	S	158;111	.	ENSP00000254940:P158S	P	+	1	0	NIP7	67932985	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.487000	0.81328	2.710000	0.92621	0.561000	0.74099	CCC		0.463	NIP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268947.2	NM_016101	
HYDIN	54768	hgsc.bcm.edu	37	16	70913324	70913324	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr16:70913324G>A	ENST00000393567.2	-	62	10583	c.10433C>T	c.(10432-10434)aCg>aTg	p.T3478M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3478					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.T3429M(1)|p.T3477M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CCGCACAACCGTCACTCGAGG	0.547																																																	2	Substitution - Missense(2)	large_intestine(2)	16											21.0	23.0	22.0					16																	70913324		1838	4084	5922	69470825	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10433C>T	16.37:g.70913324G>A	ENSP00000377197:p.Thr3478Met		69470825	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450914	0.43531	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01068	5.38	5.19	0.992	0.19819	.	0.000000	0.33792	U	0.004556	T	0.02767	0.0083	M	0.71581	2.175	0.47994	D	0.999567	D	0.60575	0.988	P	0.52424	0.698	T	0.54801	-0.8239	10	0.59425	D	0.04	.	7.517	0.27606	0.1654:0.2242:0.6104:0.0	.	3477	F8WD23	.	M	3478;3477	ENSP00000377197:T3478M	ENSP00000313052:T3477M	T	-	2	0	HYDIN	69470825	0.123000	0.22298	0.751000	0.31187	0.173000	0.22820	0.291000	0.18994	1.081000	0.41110	0.511000	0.50034	ACG		0.547	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
HYDIN	54768	hgsc.bcm.edu	37	16	71094505	71094505	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr16:71094505G>T	ENST00000393567.2	-	18	2581	c.2431C>A	c.(2431-2433)Caa>Aaa	p.Q811K	HYDIN_ENST00000321489.5_Missense_Mutation_p.Q811K|HYDIN_ENST00000448089.2_Missense_Mutation_p.Q811K|HYDIN_ENST00000541601.1_Missense_Mutation_p.Q828K|HYDIN_ENST00000448691.1_Missense_Mutation_p.Q811K|HYDIN_ENST00000538248.1_Missense_Mutation_p.Q838K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	811					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAGTCCACTTGATTGGGATGG	0.483																																																	0			16											2.0	2.0	2.0					16																	71094505		1641	3438	5079	69652006	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2431C>A	16.37:g.71094505G>T	ENSP00000377197:p.Gln811Lys		69652006	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.748482	0.00669	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601	T;T;T;T;T;T	0.03860	5.65;3.79;3.79;3.79;3.78;3.78	4.69	1.17	0.20885	.	0.263582	0.19123	U	0.122132	T	0.02494	0.0076	N	0.20483	0.58	0.09310	N	1	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.002;0.002;0.002;0.001	T	0.48080	-0.9066	10	0.02654	T	1	.	7.3861	0.26882	0.0:0.2091:0.4695:0.3213	.	838;828;811;811	B4DRN4;F5H6V3;Q4G0P3-5;F8WD23	.;.;.;.	K	811;811;811;811;811;838;828	ENSP00000377197:Q811K;ENSP00000398544:Q811K;ENSP00000394826:Q811K;ENSP00000314736:Q811K;ENSP00000444970:Q838K;ENSP00000437341:Q828K	ENSP00000313052:Q811K	Q	-	1	0	HYDIN	69652006	0.000000	0.05858	0.059000	0.19551	0.012000	0.07955	-1.162000	0.03141	0.327000	0.23409	-0.248000	0.11899	CAA		0.483	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
BCAR1	9564	hgsc.bcm.edu	37	16	75276775	75276775	+	Missense_Mutation	SNP	G	G	A	rs1035539	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr16:75276775G>A	ENST00000162330.5	-	2	352	c.226C>T	c.(226-228)Ccc>Tcc	p.P76S	BCAR1_ENST00000546196.1_Missense_Mutation_p.P47S|BCAR1_ENST00000542031.2_Missense_Mutation_p.P74S|BCAR1_ENST00000418647.3_Missense_Mutation_p.P122S|BCAR1_ENST00000420641.3_Missense_Mutation_p.P94S|BCAR1_ENST00000393422.2_Missense_Mutation_p.P94S|BCAR1_ENST00000538440.2_Missense_Mutation_p.P76S|BCAR1_ENST00000393420.6_Missense_Mutation_p.P76S|BCAR1_ENST00000535626.2_Intron	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	76	Pro-rich.		P -> S (in dbSNP:rs1035539). {ECO:0000269|PubMed:10639512, ECO:0000269|PubMed:14702039, ECO:0000269|Ref.2, ECO:0000269|Ref.3}.		actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGAGGGCCGGGGCCAGGCCCT	0.692													G|||	2974	0.59385	0.3427	0.7622	5008	,	,		14078	0.629		0.6769	False		,,,				2504	0.6922																0			16						G	SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,SER/PRO,,SER/PRO	1768,2620		372,1024,798	19.0	22.0	21.0		364,280,280,226,226,220,,226	4.0	0.1	16	dbSNP_86	21	5721,2867		1915,1891,488	no	missense,missense,missense,missense,missense,missense,intron,missense	BCAR1	NM_001170714.1,NM_001170715.1,NM_001170716.1,NM_001170717.1,NM_001170718.1,NM_001170719.1,NM_001170720.1,NM_014567.3	74,74,74,74,74,74,,74	2287,2915,1286	AA,AG,GG		33.3838,40.2917,42.2858	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,,probably-damaging	122/917,94/889,94/889,76/889,76/871,74/869,,76/871	75276775	7489,5487	2194	4294	6488	73834276	SO:0001583	missense	9564			AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.226C>T	16.37:g.75276775G>A	ENSP00000162330:p.Pro76Ser		73834276	B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Missense_Mutation	SNP	ENST00000162330.5	37	CCDS10915.1	1313	0.6011904761904762	190	0.3861788617886179	265	0.7320441988950276	345	0.6031468531468531	513	0.6767810026385225	G	4.260	0.047302	0.08243	0.402917	0.666162	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000393420;ENST00000542031;ENST00000546196	T;T;T;T;T;T;T;T	0.55588	0.51;0.51;0.51;0.51;0.51;0.51;0.51;0.51	4.97	3.99	0.46301	Src homology-3 domain (1);	1.655160	0.04132	N	0.318187	T	0.00012	0.0000	L	0.36672	1.1	0.58432	P	1.999999999946489E-6	B;B;B;B;B;B;B	0.13594	0.0;0.008;0.003;0.001;0.0;0.003;0.0	B;B;B;B;B;B;B	0.12156	0.002;0.003;0.004;0.006;0.001;0.007;0.001	T	0.42682	-0.9437	9	0.17369	T	0.5	-8.8335	9.9141	0.41423	0.1013:0.0:0.8987:0.0	rs1035539;rs17855754;rs61029671	94;122;74;76;94;76;76	B4DIW5;E9PCL5;F5GXA2;F8WA69;E9PCV2;F5H7Z0;P56945	.;.;.;.;.;.;BCAR1_HUMAN	S	76;94;94;76;122;76;74;47	ENSP00000162330:P76S;ENSP00000377074:P94S;ENSP00000392708:P94S;ENSP00000443841:P76S;ENSP00000391669:P122S;ENSP00000377072:P76S;ENSP00000440415:P74S;ENSP00000442161:P47S	ENSP00000162330:P76S	P	-	1	0	BCAR1	73834276	0.726000	0.28059	0.109000	0.21407	0.115000	0.19883	3.618000	0.54188	1.200000	0.43188	0.655000	0.94253	CCC		0.692	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567	
MON1B	22879	hgsc.bcm.edu	37	16	77225404	77225404	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr16:77225404G>A	ENST00000248248.3	+	2	372	c.22G>A	c.(22-24)Gct>Act	p.A8T	MON1B_ENST00000439557.2_Missense_Mutation_p.A8T|MON1B_ENST00000320859.6_Missense_Mutation_p.A8T|MON1B_ENST00000545553.1_Intron	NM_014940.2	NP_055755.1	Q7L1V2	MON1B_HUMAN	MON1 secretory trafficking family member B	8										breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						AGGAGACACTGCTgccccggc	0.627																																																	0			16											20.0	21.0	21.0					16																	77225404		2197	4299	6496	75782905	SO:0001583	missense	22879			BC024277	CCDS10925.1, CCDS67082.1, CCDS67083.1	16q23.1	2013-08-21	2013-08-21		ENSG00000103111	ENSG00000103111			25020	protein-coding gene	gene with protein product		608954	"""MON1 homolog B (yeast)"""			10048485	Standard	NM_014940		Approved	SAND2, HSRG1, KIAA0872	uc002fez.3	Q7L1V2	OTTHUMG00000137618	ENST00000248248.3:c.22G>A	16.37:g.77225404G>A	ENSP00000248248:p.Ala8Thr		75782905	B4DDZ0|O94949	Missense_Mutation	SNP	ENST00000248248.3	37	CCDS10925.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248675	0.80024	.	.	ENSG00000103111	ENST00000248248;ENST00000320859;ENST00000439557	.	.	.	4.23	2.1	0.27182	.	0.788326	0.11011	N	0.609464	T	0.18130	0.0435	N	0.19112	0.55	0.27316	N	0.957162	B;B	0.29862	0.056;0.259	B;B	0.19666	0.01;0.026	T	0.15521	-1.0434	9	0.21540	T	0.41	-4.2425	4.7909	0.13248	0.1114:0.0:0.6778:0.2107	.	8;8	E7EW32;Q7L1V2	.;MON1B_HUMAN	T	8	.	ENSP00000248248:A8T	A	+	1	0	MON1B	75782905	0.101000	0.21875	1.000000	0.80357	0.963000	0.63663	0.408000	0.21065	1.117000	0.41842	0.448000	0.29417	GCT		0.627	MON1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269036.2	NM_014940	
VAT1L	57687	hgsc.bcm.edu	37	16	78011577	78011577	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr16:78011577G>T	ENST00000302536.2	+	9	1398	c.1245G>T	c.(1243-1245)atG>atT	p.M415I		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	415							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGGAGCGGATGCCCTTTATCC	0.527																																																	0			16											154.0	118.0	130.0					16																	78011577		2198	4300	6498	76569078	SO:0001583	missense	57687			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.1245G>T	16.37:g.78011577G>T	ENSP00000303129:p.Met415Ile		76569078	Q8IYW8	Missense_Mutation	SNP	ENST00000302536.2	37	CCDS32492.1	.	.	.	.	.	.	.	.	.	.	G	9.930	1.214679	0.22289	.	.	ENSG00000171724	ENST00000302536	T	0.07216	3.21	4.97	4.0	0.46444	.	0.084915	0.85682	D	0.000000	T	0.05090	0.0136	N	0.08118	0	0.54753	D	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.38001	-0.9681	10	0.37606	T	0.19	-10.1573	13.3107	0.60378	0.0784:0.0:0.9216:0.0	.	415	Q9HCJ6	VAT1L_HUMAN	I	415	ENSP00000303129:M415I	ENSP00000303129:M415I	M	+	3	0	VAT1L	76569078	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	4.480000	0.60243	1.089000	0.41292	0.561000	0.74099	ATG		0.527	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434010.1	NM_020927	
CPLX4	339302	hgsc.bcm.edu	37	18	56964100	56964100	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr18:56964100C>T	ENST00000299721.3	-	3	499	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CPLX4_ENST00000587244.1_Intron	NM_181654.3	NP_857637.1	Q7Z7G2	CPLX4_HUMAN	complexin 4	105					exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter secretion (GO:0046928)	cell junction (GO:0030054)|membrane (GO:0016020)|synapse (GO:0045202)				autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	16		Colorectal(73;0.175)				TTCCGGAGATCTTCAGGTAAA	0.358																																																	0			18											94.0	85.0	88.0					18																	56964100		2203	4300	6503	55115080	SO:0001583	missense	339302			AY286502	CCDS11973.1	18q21.32	2005-08-02			ENSG00000166569	ENSG00000166569			24330	protein-coding gene	gene with protein product		609586				15911881	Standard	NM_181654		Approved	CPX-IV	uc002lhy.3	Q7Z7G2	OTTHUMG00000132756	ENST00000299721.3:c.313G>A	18.37:g.56964100C>T	ENSP00000299721:p.Asp105Asn		55115080	F1T0L6	Missense_Mutation	SNP	ENST00000299721.3	37	CCDS11973.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083582	0.94050	.	.	ENSG00000166569	ENST00000299721	.	.	.	5.66	5.66	0.87406	.	0.043821	0.85682	D	0.000000	T	0.70474	0.3228	L	0.47716	1.5	0.80722	D	1	P	0.45348	0.856	P	0.53313	0.723	T	0.71899	-0.4453	9	0.72032	D	0.01	-17.5543	19.3422	0.94347	0.0:1.0:0.0:0.0	.	105	Q7Z7G2	CPLX4_HUMAN	N	105	.	ENSP00000299721:D105N	D	-	1	0	CPLX4	55115080	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.425000	0.80255	2.653000	0.90120	0.561000	0.74099	GAT		0.358	CPLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256127.1	NM_181654	
PDCD6IP	10015	hgsc.bcm.edu	37	3	33866733	33866733	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr3:33866733C>T	ENST00000307296.3	+	5	894	c.517C>T	c.(517-519)Cga>Tga	p.R173*	PDCD6IP_ENST00000457054.2_Nonsense_Mutation_p.R173*			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	173	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TGCCTTAAGTCGAGAGCCGAC	0.413																																																	0			3											122.0	131.0	128.0					3																	33866733		2203	4300	6503	33841737	SO:0001587	stop_gained	10015			BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.517C>T	3.37:g.33866733C>T	ENSP00000307387:p.Arg173*		33841737	C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Nonsense_Mutation	SNP	ENST00000307296.3	37	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829656	0.91036	.	.	ENSG00000170248	ENST00000307296;ENST00000457054;ENST00000413073	.	.	.	5.6	3.76	0.43208	.	0.114916	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-8.0075	14.8691	0.70441	0.2753:0.7247:0.0:0.0	.	.	.	.	X	173;173;123	.	ENSP00000307387:R173X	R	+	1	2	PDCD6IP	33841737	1.000000	0.71417	0.911000	0.35937	0.562000	0.35680	2.168000	0.42424	0.679000	0.31345	-0.182000	0.12963	CGA		0.413	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2		
SLC22A14	9389	hgsc.bcm.edu	37	3	38348005	38348005	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr3:38348005A>G	ENST00000273173.4	+	1	579	c.488A>G	c.(487-489)gAc>gGc	p.D163G	RNU6-235P_ENST00000362644.1_RNA|SLC22A14_ENST00000448498.1_Missense_Mutation_p.D163G	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	163					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		ATCTATCCTGACGCTAAGAAG	0.488																																																	0			3											122.0	111.0	115.0					3																	38348005		2203	4300	6503	38323009	SO:0001583	missense	9389			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.488A>G	3.37:g.38348005A>G	ENSP00000273173:p.Asp163Gly		38323009	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	A	11.13	1.547736	0.27652	.	.	ENSG00000144671	ENST00000466887;ENST00000448498;ENST00000423219;ENST00000273173	T;T;T	0.66995	-0.24;-0.06;-0.06	5.06	0.934	0.19477	Major facilitator superfamily domain (1);	1.381930	0.04819	N	0.436565	T	0.50120	0.1597	N	0.19112	0.55	0.09310	N	1	B	0.22800	0.075	B	0.29524	0.103	T	0.41448	-0.9508	10	0.39692	T	0.17	.	2.0825	0.03638	0.4728:0.2968:0.0935:0.1369	.	163	Q9Y267	S22AE_HUMAN	G	31;163;163;163	ENSP00000442528:D31G;ENSP00000396283:D163G;ENSP00000273173:D163G	ENSP00000273173:D163G	D	+	2	0	SLC22A14	38323009	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	1.085000	0.30840	0.422000	0.26005	-0.290000	0.09829	GAC		0.488	SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803	
SCN10A	6336	hgsc.bcm.edu	37	3	38750990	38750990	+	Silent	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr3:38750990G>A	ENST00000449082.2	-	24	4259	c.4260C>T	c.(4258-4260)aaC>aaT	p.N1420N		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1420					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	GTTGATTGAAGTTGTCAATTA	0.418																																																	0			3											116.0	111.0	113.0					3																	38750990		2203	4300	6503	38725994	SO:0001819	synonymous_variant	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4260C>T	3.37:g.38750990G>A			38725994	A6NDQ1	Silent	SNP	ENST00000449082.2	37	CCDS33736.1																																																																																				0.418	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514	
CACNA1D	776	hgsc.bcm.edu	37	3	53756425	53756425	+	Silent	SNP	C	C	T	rs200605154		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr3:53756425C>T	ENST00000350061.5	+	12	2101	c.1590C>T	c.(1588-1590)atC>atT	p.I530I	CACNA1D_ENST00000288139.4_Silent_p.I550I|CACNA1D_ENST00000422281.2_Silent_p.I530I	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	530					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCTGGTTATCGTCCTGGTGT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		18163	0.0		0.001	False		,,,				2504	0.0																0			3											173.0	138.0	150.0					3																	53756425		2203	4300	6503	53731465	SO:0001819	synonymous_variant	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1590C>T	3.37:g.53756425C>T			53731465	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Silent	SNP	ENST00000350061.5	37	CCDS46848.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	10.07	1.249214	0.22880	.	.	ENSG00000157388	ENST00000481085	.	.	.	5.88	-6.2	0.02072	.	.	.	.	.	T	0.51856	0.1699	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55792	-0.8085	4	.	.	.	.	10.6351	0.45560	0.0859:0.4281:0.0:0.486	.	.	.	.	L	244	.	.	S	+	2	0	CACNA1D	53731465	0.720000	0.27996	0.904000	0.35570	0.984000	0.73092	-0.124000	0.10595	-1.064000	0.03172	-1.099000	0.02127	TCG		0.488	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720	
C3orf36	80111	hgsc.bcm.edu	37	3	133647493	133647493	+	Missense_Mutation	SNP	G	G	A	rs76311816	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr3:133647493G>A	ENST00000408895.2	-	1	1163	c.155C>T	c.(154-156)aCg>aTg	p.T52M		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	52										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						CTTCCTGAGCGTGGTTGGTGG	0.637																																																	0			3											40.0	42.0	41.0					3																	133647493		2203	4300	6503	135130183	SO:0001583	missense	80111			AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.155C>T	3.37:g.133647493G>A	ENSP00000386219:p.Thr52Met		135130183	Q3SXR3|Q9H6K8	Missense_Mutation	SNP	ENST00000408895.2	37	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.658510	0.29515	.	.	ENSG00000221972	ENST00000408895	.	.	.	2.11	-0.464	0.12160	.	.	.	.	.	T	0.15219	0.0367	N	0.08118	0	0.09310	N	1	B	0.27625	0.183	B	0.14578	0.011	T	0.14952	-1.0454	8	0.87932	D	0	.	3.705	0.08397	0.0:0.499:0.2387:0.2622	.	52	Q3SXR2	CC036_HUMAN	M	52	.	ENSP00000386219:T52M	T	-	2	0	C3orf36	135130183	0.000000	0.05858	0.001000	0.08648	0.132000	0.20833	-0.105000	0.10907	-0.497000	0.06641	-0.647000	0.03941	ACG		0.637	C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041	
KRAS	3845	hgsc.bcm.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000556131.1_Missense_Mutation_p.G13D|KRAS_ENST00000311936.3_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)	12											88.0	78.0	82.0					12																	25398281		2203	4300	6503	25289548	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp		25289548	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC		0.338	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
KRT73	319101	hgsc.bcm.edu	37	12	53005112	53005112	+	Splice_Site	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr12:53005112A>G	ENST00000305748.3	-	6	1020	c.986T>C	c.(985-987)tTc>tCc	p.F329S	RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	329	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCTCCTGGAACTAGAGGAA	0.562																																																	0			12											84.0	77.0	79.0					12																	53005112		2203	4300	6503	51291379	SO:0001630	splice_region_variant	319101			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.985-1T>C	12.37:g.53005112A>G			51291379	Q32MB2	Missense_Mutation	SNP	ENST00000305748.3	37	CCDS8834.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463856	0.63513	.	.	ENSG00000186049	ENST00000305748;ENST00000552855	D;T	0.88431	-2.38;-1.07	5.61	5.61	0.85477	Filament (1);	0.000000	0.56097	D	0.000036	D	0.92361	0.7576	M	0.66939	2.045	0.36753	D	0.882864	D	0.57257	0.979	P	0.62740	0.906	D	0.94415	0.7635	10	0.72032	D	0.01	.	11.2268	0.48888	0.8633:0.0:0.0:0.1367	.	329	Q86Y46	K2C73_HUMAN	S	329;74	ENSP00000307014:F329S;ENSP00000449081:F74S	ENSP00000307014:F329S	F	-	2	0	KRT73	51291379	0.985000	0.35326	1.000000	0.80357	0.626000	0.37791	0.784000	0.26816	2.276000	0.75962	0.454000	0.30748	TTC		0.562	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068	Missense_Mutation
SP7	121340	hgsc.bcm.edu	37	12	53722892	53722892	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr12:53722892C>T	ENST00000536324.2	-	3	617	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	SP7_ENST00000537210.2_Missense_Mutation_p.V94M|SP7_ENST00000303846.3_Missense_Mutation_p.V112M	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	112					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						CCCTTGGGCACTAGTAGCCCA	0.587																																																	0			12											98.0	100.0	100.0					12																	53722892		1936	4147	6083	52009159	SO:0001583	missense	121340			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.334G>A	12.37:g.53722892C>T	ENSP00000443827:p.Val112Met		52009159	B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	ENST00000536324.2	37	CCDS44897.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368998	0.42003	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.49720	3.26;3.26;3.26;0.77	3.69	2.8	0.32819	.	0.269330	0.30193	N	0.010193	T	0.48314	0.1493	L	0.34521	1.04	0.31444	N	0.671607	D	0.58268	0.982	P	0.56434	0.798	T	0.55166	-0.8183	10	0.49607	T	0.09	.	10.8907	0.46994	0.0:0.9019:0.0:0.0981	.	112	Q8TDD2	SP7_HUMAN	M	112;112;94;94	ENSP00000443827:V112M;ENSP00000302812:V112M;ENSP00000441367:V94M;ENSP00000449355:V94M	ENSP00000302812:V112M	V	-	1	0	SP7	52009159	0.167000	0.22975	0.995000	0.50966	0.423000	0.31445	1.739000	0.38217	1.140000	0.42260	0.313000	0.20887	GTG		0.587	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406917.1		
COPZ1	22818	hgsc.bcm.edu	37	12	54737081	54737081	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr12:54737081G>A	ENST00000262061.2	+	4	279	c.242G>A	c.(241-243)gGc>gAc	p.G81D	COPZ1_ENST00000548753.1_5'UTR|COPZ1_ENST00000553231.1_Missense_Mutation_p.G58D|COPZ1_ENST00000552362.1_Missense_Mutation_p.G81D|RN7SL744P_ENST00000577604.1_RNA|COPZ1_ENST00000552218.1_Missense_Mutation_p.G81D|COPZ1_ENST00000551779.1_Missense_Mutation_p.G81D|COPZ1_ENST00000548281.1_Intron|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000455864.2_Missense_Mutation_p.G58D|COPZ1_ENST00000549116.1_Intron|COPZ1_ENST00000549043.1_Missense_Mutation_p.G89D|COPZ1_ENST00000416254.2_Intron	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	81					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)				kidney(1)|lung(4)	5						TATGTGATTGGCAGCTCCTAT	0.443																																																	0			12											160.0	160.0	160.0					12																	54737081		2203	4300	6503	53023348	SO:0001583	missense	22818			AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"""coatomer protein complex, subunit zeta"""	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.242G>A	12.37:g.54737081G>A	ENSP00000262061:p.Gly81Asp		53023348	B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	Missense_Mutation	SNP	ENST00000262061.2	37	CCDS8877.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884857	0.91814	.	.	ENSG00000111481	ENST00000552848;ENST00000262061;ENST00000549043;ENST00000552218;ENST00000553231;ENST00000552362;ENST00000455864;ENST00000551779;ENST00000550713	.	.	.	5.34	5.34	0.76211	Longin-like (1);AP complex, mu/sigma subunit (1);	0.000000	0.85682	D	0.000000	D	0.87704	0.6244	H	0.96489	3.83	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91268	0.5042	9	0.87932	D	0	-12.5301	16.9051	0.86124	0.0:0.0:1.0:0.0	.	58;89;81	B4DDX8;F8VWL5;P61923	.;.;COPZ1_HUMAN	D	81;81;89;81;58;81;58;81;89	.	ENSP00000262061:G81D	G	+	2	0	COPZ1	53023348	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.820000	0.92003	2.668000	0.90789	0.655000	0.94253	GGC		0.443	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405753.1	NM_016057	
ARHGEF25	115557	hgsc.bcm.edu	37	12	58007244	58007244	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr12:58007244T>C	ENST00000286494.4	+	4	890	c.430T>C	c.(430-432)Tcc>Ccc	p.S144P	AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000610219.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.S183P	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	144						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAGACTTTGTCCCAAGCCCC	0.532																																																	0			12											98.0	101.0	100.0					12																	58007244		2203	4300	6503	56293511	SO:0001583	missense	0				CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.430T>C	12.37:g.58007244T>C	ENSP00000286494:p.Ser144Pro		56293511	A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	t	16.35	3.098801	0.56183	.	.	ENSG00000240771	ENST00000333972;ENST00000300189;ENST00000286494	T;T	0.26373	1.74;1.74	3.89	1.4	0.22301	Dbl homology (DH) domain (1);	0.000000	0.37437	N	0.002083	T	0.32255	0.0823	L	0.43152	1.355	0.33573	D	0.598887	D;D;B	0.76494	0.999;0.997;0.027	D;P;B	0.74674	0.984;0.795;0.022	T	0.38112	-0.9676	10	0.37606	T	0.19	.	3.8732	0.09045	0.1898:0.1138:0.0:0.6964	.	183;144;18	F8W7Z4;Q86VW2;Q96M35	.;ARHGP_HUMAN;.	P	183;18;144	ENSP00000335560:S183P;ENSP00000286494:S144P	ENSP00000286494:S144P	S	+	1	0	ARHGEF25	56293511	0.880000	0.30214	0.894000	0.35097	0.970000	0.65996	0.794000	0.26958	1.556000	0.49512	0.374000	0.22700	TCC		0.532	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483	
AVPR1A	552	hgsc.bcm.edu	37	12	63544209	63544209	+	Silent	SNP	A	A	G	rs1042615	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr12:63544209A>G	ENST00000299178.2	-	1	513	c.408T>C	c.(406-408)ttT>ttC	p.F136F		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	136					activation of phospholipase C activity (GO:0007202)|blood circulation (GO:0008015)|calcium-mediated signaling (GO:0019722)|cellular response to water deprivation (GO:0042631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|grooming behavior (GO:0007625)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|myotube differentiation (GO:0014902)|negative regulation of female receptivity (GO:0007621)|negative regulation of transmission of nerve impulse (GO:0051970)|penile erection (GO:0043084)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular pH reduction (GO:0032849)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of glutamate secretion (GO:0014049)|positive regulation of heart rate (GO:0010460)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of systemic arterial blood pressure (GO:0003084)|positive regulation of vasoconstriction (GO:0045907)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to corticosterone (GO:0051412)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|telencephalon development (GO:0021537)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	peptide hormone binding (GO:0017046)|protein kinase C binding (GO:0005080)|vasopressin receptor activity (GO:0005000)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	AGGCCGACGCAAACATGCCGA	0.652													G|||	3259	0.650759	0.8525	0.6441	5008	,	,		18342	0.4583		0.5368	False		,,,				2504	0.6984																0			12						G		3636,770		1504,628,71	26.0	32.0	30.0		408	4.9	1.0	12	dbSNP_86	30	4976,3620		1454,2068,776	no	coding-synonymous	AVPR1A	NM_000706.3		2958,2696,847	GG,GA,AA		42.1126,17.4762,33.764		136/419	63544209	8612,4390	2203	4298	6501	61830476	SO:0001819	synonymous_variant	552			L25615	CCDS8965.1	12q14-q15	2012-08-08				ENSG00000166148		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	895	protein-coding gene	gene with protein product		600821		AVPR1		8106369	Standard	NM_000706		Approved		uc001sro.2	P37288		ENST00000299178.2:c.408T>C	12.37:g.63544209A>G			61830476		Silent	SNP	ENST00000299178.2	37	CCDS8965.1																																																																																				0.652	AVPR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406734.1		
NOS1	4842	hgsc.bcm.edu	37	12	117724058	117724058	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr12:117724058C>T	ENST00000338101.4	-	5	1145	c.1141G>A	c.(1141-1143)Gcc>Acc	p.A381T	NOS1_ENST00000317775.6_Missense_Mutation_p.A381T|NOS1_ENST00000344089.3_Silent_p.K399K			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TCCATGTGGGCTTTGGAGCCA	0.517																																					Esophageal Squamous(162;1748 2599 51982 52956)												0			12											137.0	132.0	134.0					12																	117724058		2059	4213	6272	116208441	SO:0001583	missense	340719				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1141G>A	12.37:g.117724058C>T	ENSP00000337459:p.Ala381Thr		116208441		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.714793	0.68730	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.26223	1.75;1.75	5.14	4.25	0.50352	Nitric oxide synthase, oxygenase domain (3);	0.049306	0.85682	N	0.000000	T	0.31451	0.0797	M	0.71920	2.185	0.80722	D	1	B	0.15719	0.014	B	0.21708	0.036	T	0.17440	-1.0369	10	0.66056	D	0.02	-24.8012	13.3991	0.60872	0.0:0.9251:0.0:0.0749	.	381	P29475	NOS1_HUMAN	T	381	ENSP00000320758:A381T;ENSP00000337459:A381T	ENSP00000320758:A381T	A	-	1	0	NOS1	116208441	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.769000	0.62300	1.397000	0.46682	0.591000	0.81541	GCC		0.517	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
WSB2	55884	hgsc.bcm.edu	37	12	118490150	118490150	+	Silent	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr12:118490150G>A	ENST00000315436.3	-	2	288	c.147C>T	c.(145-147)atC>atT	p.I49I	WSB2_ENST00000535496.1_Silent_p.I51I|WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000544233.1_5'UTR|WSB2_ENST00000441406.2_Silent_p.I66I	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	49					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAGTTTGACGATGCAGTGTC	0.557																																																	0			12											78.0	76.0	77.0					12																	118490150		2203	4300	6503	116974533	SO:0001819	synonymous_variant	55884			AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.147C>T	12.37:g.118490150G>A			116974533	B4DIE6|B4DPV6|Q9NRX9	Silent	SNP	ENST00000315436.3	37	CCDS9186.1																																																																																				0.557	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639	
WDR66	144406	hgsc.bcm.edu	37	12	122386916	122386916	+	Missense_Mutation	SNP	T	T	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr12:122386916T>A	ENST00000288912.4	+	8	2072	c.1218T>A	c.(1216-1218)aaT>aaA	p.N406K	WDR66_ENST00000397454.2_Missense_Mutation_p.N406K	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	406							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ACCCAACAAATAATAAAGAAT	0.269																																					Esophageal Squamous(85;849 1794 49757 52143)												0			12											70.0	68.0	69.0					12																	122386916		1786	4041	5827	120871299	SO:0001583	missense	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.1218T>A	12.37:g.122386916T>A	ENSP00000288912:p.Asn406Lys		120871299	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	ENST00000288912.4	37	CCDS41853.1	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430396	0.62844	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.63913	1.01;-0.07	5.69	0.748	0.18376	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.098691	0.64402	D	0.000002	T	0.56455	0.1986	M	0.66939	2.045	0.33095	D	0.538462	B	0.25521	0.128	B	0.26094	0.066	T	0.59915	-0.7364	10	0.66056	D	0.02	.	9.096	0.36640	0.0:0.2895:0.0:0.7105	.	406	Q8TBY9	WDR66_HUMAN	K	406	ENSP00000288912:N406K;ENSP00000380595:N406K	ENSP00000288912:N406K	N	+	3	2	WDR66	120871299	0.992000	0.36948	0.959000	0.39883	0.843000	0.47879	1.213000	0.32407	-0.099000	0.12263	-0.280000	0.10049	AAT		0.269	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401700.1	NM_144668	
NCOR2	9612	hgsc.bcm.edu	37	12	124838658	124838658	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr12:124838658T>C	ENST00000405201.1	-	27	3674	c.3674A>G	c.(3673-3675)tAc>tGc	p.Y1225C	NCOR2_ENST00000356219.3_Missense_Mutation_p.Y1232C|NCOR2_ENST00000397355.1_Missense_Mutation_p.Y1216C|NCOR2_ENST00000404621.1_Missense_Mutation_p.Y1215C|NCOR2_ENST00000429285.2_Missense_Mutation_p.Y1215C|NCOR2_ENST00000404121.2_Missense_Mutation_p.Y786C			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1233					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGAGCCGCGGTATGTGATGGC	0.617																																																	0			12											43.0	50.0	48.0					12																	124838658		2145	4238	6383	123404611	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3674A>G	12.37:g.124838658T>C	ENSP00000384018:p.Tyr1225Cys		123404611	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	T	14.15	2.450482	0.43531	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.36520	2.0;2.28;2.01;2.28;2.01;2.28;1.25	4.94	4.94	0.65067	.	0.066854	0.64402	D	0.000008	T	0.55321	0.1913	L	0.60455	1.87	0.49483	D	0.999793	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70935	0.971;0.953;0.971	T	0.58831	-0.7567	10	0.66056	D	0.02	-24.1613	14.6022	0.68447	0.0:0.0:0.0:1.0	.	1215;1216;1225	C9J0Q5;C9J239;C9JFD3	.;.;.	C	1225;1215;1232;1216;1224;786;1215;1233	ENSP00000384018:Y1225C;ENSP00000384202:Y1215C;ENSP00000348551:Y1232C;ENSP00000380513:Y1216C;ENSP00000385618:Y786C;ENSP00000400281:Y1215C;ENSP00000402808:Y1233C	ENSP00000348551:Y1232C	Y	-	2	0	NCOR2	123404611	1.000000	0.71417	0.957000	0.39632	0.464000	0.32679	4.176000	0.58269	1.852000	0.53769	0.459000	0.35465	TAC		0.617	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
TMEM132B	114795	hgsc.bcm.edu	37	12	126137055	126137055	+	Silent	SNP	C	C	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr12:126137055C>A	ENST00000299308.3	+	8	1976	c.1968C>A	c.(1966-1968)acC>acA	p.T656T	TMEM132B_ENST00000535886.1_Silent_p.T168T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	656						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCGAGTCACCATCGCGGAGC	0.592																																																	0			12											45.0	48.0	47.0					12																	126137055		2100	4239	6339	124703008	SO:0001819	synonymous_variant	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1968C>A	12.37:g.126137055C>A			124703008	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																				0.592	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
HERC2	8924	hgsc.bcm.edu	37	15	28459027	28459027	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr15:28459027C>T	ENST00000261609.7	-	42	6755	c.6647G>A	c.(6646-6648)cGc>cAc	p.R2216H		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2									p.R2216H(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGGCGCAGGCGACCATCGAT	0.577																																																	1	Substitution - Missense(1)	ovary(1)	15											79.0	70.0	73.0					15																	28459027		2203	4300	6503	26132622	SO:0001583	missense	8924			AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6647G>A	15.37:g.28459027C>T	ENSP00000261609:p.Arg2216His		26132622		Missense_Mutation	SNP	ENST00000261609.7	37	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566452	0.86439	.	.	ENSG00000128731	ENST00000261609	T	0.62105	0.05	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.80358	0.4608	M	0.79258	2.445	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.81972	-0.0688	10	0.72032	D	0.01	.	19.1711	0.93578	0.0:1.0:0.0:0.0	.	2216	O95714	HERC2_HUMAN	H	2216	ENSP00000261609:R2216H	ENSP00000261609:R2216H	R	-	2	0	HERC2	26132622	1.000000	0.71417	0.933000	0.37362	0.314000	0.28054	7.312000	0.78968	2.774000	0.95407	0.484000	0.47621	CGC		0.577	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
PLCB2	5330	hgsc.bcm.edu	37	15	40582857	40582857	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr15:40582857T>C	ENST00000260402.3	-	29	3379	c.3130A>G	c.(3130-3132)Aag>Gag	p.K1044E	PLCB2_ENST00000456256.2_Missense_Mutation_p.K1029E|PLCB2_ENST00000557821.1_Missense_Mutation_p.K1040E	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	1044					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGCTTTTTCTTCATCTCTTTG	0.587																																																	0			15											198.0	201.0	200.0					15																	40582857		2020	4198	6218	38370149	SO:0001583	missense	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.3130A>G	15.37:g.40582857T>C	ENSP00000260402:p.Lys1044Glu		38370149	A8K6J2|B9EGH5	Missense_Mutation	SNP	ENST00000260402.3	37	CCDS42020.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.934465	0.73442	.	.	ENSG00000137841	ENST00000260402;ENST00000456256	T;T	0.54479	0.57;0.57	4.3	4.3	0.51218	PLC-beta, C-terminal (1);	0.400928	0.24309	N	0.039649	T	0.66247	0.2770	L	0.54323	1.7	0.80722	D	1	D;P;D	0.76494	0.999;0.58;0.984	D;B;P	0.80764	0.994;0.39;0.803	T	0.68368	-0.5427	10	0.59425	D	0.04	.	12.7806	0.57474	0.0:0.0:0.0:1.0	.	1029;1040;1044	B9EGH5;Q00722-2;Q00722	.;.;PLCB2_HUMAN	E	1044;1029	ENSP00000260402:K1044E;ENSP00000411991:K1029E	ENSP00000260402:K1044E	K	-	1	0	PLCB2	38370149	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.685000	0.54678	1.777000	0.52277	0.459000	0.35465	AAG		0.587	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418430.1		
TMEM87A	25963	hgsc.bcm.edu	37	15	42529716	42529716	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr15:42529716C>A	ENST00000389834.4	-	9	1046	c.782G>T	c.(781-783)tGg>tTg	p.W261L	TMEM87A_ENST00000448392.1_Missense_Mutation_p.W200L	NM_015497.3	NP_056312.2	Q8NBN3	TM87A_HUMAN	transmembrane protein 87A	261						integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24		all_cancers(109;4.28e-16)|all_epithelial(112;1.04e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;1.03e-06)		AGCACCAATCCAAAACTGAAT	0.433																																																	0			15											98.0	89.0	92.0					15																	42529716		2203	4299	6502	40317008	SO:0001583	missense	25963			AF132733	CCDS32205.1, CCDS45243.1, CCDS66742.1	15q15.1	2005-10-30				ENSG00000103978			24522	protein-coding gene	gene with protein product						12477932	Standard	XM_005254287		Approved	DKFZP564G2022	uc021sjr.1	Q8NBN3		ENST00000389834.4:c.782G>T	15.37:g.42529716C>A	ENSP00000374484:p.Trp261Leu		40317008	Q6NT77|Q8NCA4|Q9BS46|Q9P103|Q9Y3Y7	Missense_Mutation	SNP	ENST00000389834.4	37	CCDS32205.1	.	.	.	.	.	.	.	.	.	.	C	34	5.342950	0.95783	.	.	ENSG00000103978	ENST00000389834;ENST00000448392;ENST00000535305	.	.	.	5.8	5.8	0.92144	.	0.062566	0.64402	D	0.000002	D	0.83732	0.5318	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.81665	-0.0830	9	0.34782	T	0.22	-6.4506	20.0566	0.97653	0.0:1.0:0.0:0.0	.	261;200	Q8NBN3;Q8NBN3-3	TM87A_HUMAN;.	L	261;200;237	.	ENSP00000374484:W261L	W	-	2	0	TMEM87A	40317008	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.802000	0.85969	2.750000	0.94351	0.467000	0.42956	TGG		0.433	TMEM87A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420482.2	NM_015497	
CEP152	22995	hgsc.bcm.edu	37	15	49031107	49031107	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr15:49031107G>A	ENST00000380950.2	-	27	4659	c.4472C>T	c.(4471-4473)cCg>cTg	p.P1491L	CEP152_ENST00000399334.3_Missense_Mutation_p.P1435L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1491					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGCTGAATGCGGAAGTGATTC	0.438																																																	0			15											125.0	121.0	122.0					15																	49031107		1896	4129	6025	46818399	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4472C>T	15.37:g.49031107G>A	ENSP00000370337:p.Pro1491Leu		46818399	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	0.246	-1.010368	0.02095	.	.	ENSG00000103995	ENST00000399334	T	0.48201	0.82	5.2	-6.83	0.01693	.	1.577130	0.04039	N	0.302827	T	0.15089	0.0364	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32134	-0.9918	10	0.02654	T	1	0.8222	6.1866	0.20500	0.3104:0.0:0.4548:0.2349	.	1435	O94986	CE152_HUMAN	L	1435	ENSP00000382271:P1435L	ENSP00000382271:P1435L	P	-	2	0	CEP152	46818399	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.766000	0.01797	-1.189000	0.02702	-2.041000	0.00417	CCG		0.438	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985	
FAM214A	56204	hgsc.bcm.edu	37	15	52885908	52885908	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr15:52885908T>C	ENST00000261844.7	-	10	2827	c.2675A>G	c.(2674-2676)gAt>gGt	p.D892G	FAM214A_ENST00000546305.2_Missense_Mutation_p.D899G|RP11-23N2.4_ENST00000562062.1_RNA	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	892																	GCCGAGAGGATCGAAACGATA	0.363																																																	0			15											35.0	30.0	31.0					15																	52885908		1828	4052	5880	50673200	SO:0001583	missense	56204			AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2675A>G	15.37:g.52885908T>C	ENSP00000261844:p.Asp892Gly		50673200	A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.329264	0.81690	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T;T	0.39056	1.47;1.1;1.47	6.06	6.06	0.98353	.	0.046933	0.85682	D	0.000000	T	0.44891	0.1315	L	0.43152	1.355	0.58432	D	0.999998	B;B	0.29955	0.222;0.263	B;B	0.37989	0.171;0.262	T	0.41520	-0.9504	10	0.66056	D	0.02	.	16.6245	0.84952	0.0:0.0:0.0:1.0	.	899;892	F5H8G0;Q32MH5	.;K1370_HUMAN	G	892;892;891;899	ENSP00000261844:D892G;ENSP00000382153:D892G;ENSP00000443598:D899G	ENSP00000261844:D892G	D	-	2	0	KIAA1370	50673200	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.323000	0.78572	0.528000	0.53228	GAT		0.363	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600	
POLG	5428	hgsc.bcm.edu	37	15	89870445	89870445	+	Silent	SNP	C	C	G	rs62640034	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr15:89870445C>G	ENST00000268124.5	-	7	1719	c.1386G>C	c.(1384-1386)tcG>tcC	p.S462S	POLG_ENST00000442287.2_Silent_p.S462S	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	462					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GATCCATCAACGACTTCTTCA	0.602								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												0			15											95.0	90.0	92.0					15																	89870445		2200	4299	6499	87671449	SO:0001819	synonymous_variant	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.1386G>C	15.37:g.89870445C>G			87671449	Q8NFM2|Q92515	Silent	SNP	ENST00000268124.5	37	CCDS10350.1																																																																																				0.602	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693	
FAM9A	171482	hgsc.bcm.edu	37	X	8766199	8766199	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:8766199T>C	ENST00000543214.1	-	5	500	c.365A>G	c.(364-366)cAt>cGt	p.H122R	FAM9A_ENST00000381003.3_Missense_Mutation_p.H122R	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	122						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				ACCTGCAATATGTTCTAGCTT	0.318																																																	0			X											78.0	63.0	68.0					X																	8766199		2199	4299	6498	8726199	SO:0001583	missense	171482				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.365A>G	X.37:g.8766199T>C	ENSP00000440163:p.His122Arg		8726199	B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	t	0.360	-0.940099	0.02322	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.874	-0.771	0.11002	.	.	.	.	.	T	0.12008	0.0292	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29427	-1.0012	7	0.20046	T	0.44	.	.	.	.	.	122	Q8IZU1	FAM9A_HUMAN	R	122	.	ENSP00000370391:H122R	H	-	2	0	FAM9A	8726199	0.074000	0.21230	0.000000	0.03702	0.002000	0.02628	0.305000	0.19254	-0.282000	0.09128	0.433000	0.28618	CAT		0.318	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951	
POLA1	5422	hgsc.bcm.edu	37	X	24766440	24766440	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:24766440G>C	ENST00000379059.3	+	25	2701	c.2686G>C	c.(2686-2688)Gaa>Caa	p.E896Q	POLA1_ENST00000379068.3_Missense_Mutation_p.E902Q	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	896					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGGAGAACAAGAACAGATCCC	0.388																																																	0			X											88.0	75.0	79.0					X																	24766440		2203	4300	6503	24676361	SO:0001583	missense	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2686G>C	X.37:g.24766440G>C	ENSP00000368349:p.Glu896Gln		24676361	Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008181	0.75046	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.19105	2.17;2.17	4.96	4.96	0.65561	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.051777	0.85682	D	0.000000	T	0.42449	0.1203	M	0.71296	2.17	0.80722	D	1	D	0.64830	0.994	D	0.67231	0.95	T	0.21861	-1.0233	10	0.12766	T	0.61	-16.6655	17.2332	0.86990	0.0:0.0:1.0:0.0	.	896	P09884	DPOLA_HUMAN	Q	902;896	ENSP00000368358:E902Q;ENSP00000368349:E896Q	ENSP00000368349:E896Q	E	+	1	0	POLA1	24676361	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.081000	0.76844	2.438000	0.82558	0.600000	0.82982	GAA		0.388	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937	
DCAF8L2	347442	hgsc.bcm.edu	37	X	27765438	27765438	+	Silent	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:27765438G>A	ENST00000451261.2	+	5	825	c.426G>A	c.(424-426)gaG>gaA	p.E142E		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	142	Glu-rich.									central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						aggaggaggaggaggaggaag	0.592																																																	0			X											16.0	15.0	15.0					X																	27765438		692	1590	2282	27675359	SO:0001819	synonymous_variant	0				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.426G>A	X.37:g.27765438G>A			27675359	B2RXH9|J3KT06	Silent	SNP	ENST00000451261.2	37	CCDS59162.1																																																																																				0.592	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056143.4	XM_293354	
FAM47A	158724	hgsc.bcm.edu	37	X	34148722	34148722	+	Silent	SNP	C	C	T	rs372486528		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:34148722C>T	ENST00000346193.3	-	1	1725	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	558										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTCCGGGTGGAGAC	0.577																																																	0			X						C		2,3785		0,2,1606,571	61.0	59.0	60.0		1674	-0.6	0.0	X		60	1,6696		0,1,2421,1853	no	coding-synonymous	FAM47A	NM_203408.3		0,3,4027,2424	TT,TC,CC,C		0.0149,0.0528,0.0286		558/792	34148722	3,10481	2179	4275	6454	34058643	SO:0001819	synonymous_variant	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1674G>A	X.37:g.34148722C>T			34058643	A8K8I9|Q8TAA0	Silent	SNP	ENST00000346193.3	37	CCDS43926.1																																																																																				0.577	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408	
CXorf22	170063	hgsc.bcm.edu	37	X	35993862	35993862	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:35993862C>T	ENST00000297866.5	+	15	2611	c.2545C>T	c.(2545-2547)Ctt>Ttt	p.L849F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	849										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GCCAGTAACACTTGAGCTATC	0.423																																																	0			X											141.0	121.0	128.0					X																	35993862		2202	4300	6502	35903783	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.2545C>T	X.37:g.35993862C>T	ENSP00000297866:p.Leu849Phe		35903783	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	C	15.06	2.720162	0.48728	.	.	ENSG00000165164	ENST00000297866	T	0.37584	1.19	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.60881	0.2303	M	0.79475	2.455	0.36351	D	0.860078	D	0.89917	1.0	D	0.97110	1.0	T	0.69837	-0.5037	10	0.45353	T	0.12	-26.3368	14.9502	0.71067	0.0:1.0:0.0:0.0	.	849	Q6ZTR5	CX022_HUMAN	F	849	ENSP00000297866:L849F	ENSP00000297866:L849F	L	+	1	0	CXorf22	35903783	0.992000	0.36948	0.402000	0.26371	0.220000	0.24768	3.236000	0.51336	2.117000	0.64856	0.600000	0.82982	CTT		0.423	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
ASB12	142689	hgsc.bcm.edu	37	X	63444779	63444779	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:63444779T>C	ENST00000396130.2	-	1	724	c.725A>G	c.(724-726)tAc>tGc	p.Y242C	ASB12_ENST00000362002.2_Missense_Mutation_p.Y251C|MTMR8_ENST00000453546.1_Missense_Mutation_p.Y626C			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	242					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						AGATGGAAGGTAGATATTAGC	0.502																																																	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)	X											82.0	67.0	72.0					X																	63444779		2203	4300	6503	63361504	SO:0001583	missense	142689			AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.725A>G	X.37:g.63444779T>C	ENSP00000379435:p.Tyr242Cys		63361504	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	37		.	.	.	.	.	.	.	.	.	.	T	16.64	3.179658	0.57800	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.53206	0.63;0.63;0.63	4.06	4.06	0.47325	Ankyrin repeat-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.55497	0.1924	L	0.32530	0.975	0.31596	N	0.653333	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.62310	-0.6881	10	0.66056	D	0.02	-18.1767	11.3454	0.49556	0.0:0.0:0.0:1.0	.	626;242	B4DQL0;Q8WXK4	.;ASB12_HUMAN	C	251;242;219;626	ENSP00000355195:Y251C;ENSP00000379435:Y242C;ENSP00000394003:Y626C	ENSP00000354626:Y219C	Y	-	2	0	ASB12;MTMR8	63361504	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	5.526000	0.67116	1.619000	0.50296	0.381000	0.24937	TAC		0.502	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
MTMR8	55613	hgsc.bcm.edu	37	X	63569894	63569894	+	Silent	SNP	C	C	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:63569894C>G	ENST00000374852.3	-	5	592	c.525G>C	c.(523-525)acG>acC	p.T175T	MTMR8_ENST00000453546.1_Silent_p.T175T	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	175	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						TTCCAACCACCGTTCCCAAGG	0.353																																																	1	Whole gene deletion(1)	ovary(1)	X											128.0	106.0	114.0					X																	63569894		2203	4300	6503	63486619	SO:0001819	synonymous_variant	66036			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.525G>C	X.37:g.63569894C>G			63486619	Q5JT99|Q9NXP6	Silent	SNP	ENST00000374852.3	37	CCDS14379.1																																																																																				0.353	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2	NM_017677	
IGBP1	3476	hgsc.bcm.edu	37	X	69385814	69385814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:69385814C>T	ENST00000342206.6	+	6	1502	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	IGBP1_ENST00000356413.4_Nonsense_Mutation_p.R335*|IGBP1-AS1_ENST00000366397.3_RNA			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	335					B cell activation (GO:0042113)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein dephosphorylation (GO:0035308)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dephosphorylation (GO:0035306)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of microtubule-based movement (GO:0060632)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	protein phosphatase type 2A regulator activity (GO:0008601)			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CTATGGGAACCGACAGAACAT	0.552																																					NSCLC(167;1189 1558 6576 8216 30387 37980 41450)												0			X											99.0	76.0	84.0					X																	69385814		2203	4300	6503	69302539	SO:0001587	stop_gained	3476			Y08915	CCDS14396.1	Xq13.1-q13.3	2008-02-05			ENSG00000089289	ENSG00000089289			5461	protein-coding gene	gene with protein product	"""alpha 4"""	300139		IBP1		9441740	Standard	NM_001551		Approved		uc004dxw.3	P78318	OTTHUMG00000021767	ENST00000342206.6:c.1003C>T	X.37:g.69385814C>T	ENSP00000363661:p.Arg335*		69302539	Q8TAB2	Nonsense_Mutation	SNP	ENST00000342206.6	37	CCDS14396.1	.	.	.	.	.	.	.	.	.	.	.	42	9.254074	0.99115	.	.	ENSG00000089289	ENST00000342206;ENST00000356413	.	.	.	5.5	3.67	0.42095	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.48040	D	0.999576	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.8349	0.40963	0.4146:0.5854:0.0:0.0	.	.	.	.	X	335	.	ENSP00000363661:R335X	R	+	1	2	IGBP1	69302539	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	3.218000	0.51192	0.617000	0.30160	-0.224000	0.12420	CGA		0.552	IGBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057052.1		
DRP2	1821	hgsc.bcm.edu	37	X	100515081	100515081	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:100515081T>C	ENST00000395209.3	+	23	3199	c.2672T>C	c.(2671-2673)cTa>cCa	p.L891P	DRP2_ENST00000538510.1_Missense_Mutation_p.L891P|DRP2_ENST00000541709.1_Missense_Mutation_p.L813P|DRP2_ENST00000402866.1_Missense_Mutation_p.L891P	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	891					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGCTCGTCCCTAGCTTCCTCT	0.567																																																	0			X											137.0	109.0	119.0					X																	100515081		2203	4300	6503	100401737	SO:0001583	missense	1821			U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2672T>C	X.37:g.100515081T>C	ENSP00000378635:p.Leu891Pro		100401737	A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Missense_Mutation	SNP	ENST00000395209.3	37	CCDS14480.2	.	.	.	.	.	.	.	.	.	.	T	15.39	2.819744	0.50633	.	.	ENSG00000102385	ENST00000402866;ENST00000395209;ENST00000541709;ENST00000538510	T;T;T;T	0.05513	3.54;3.54;3.43;3.54	5.21	5.21	0.72293	.	0.074145	0.56097	D	0.000031	T	0.03564	0.0102	N	0.12746	0.255	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45571	-0.9252	10	0.12766	T	0.61	-1.4605	8.8963	0.35467	0.0:0.0847:0.0:0.9153	.	891	Q13474	DRP2_HUMAN	P	891;891;813;891	ENSP00000385038:L891P;ENSP00000378635:L891P;ENSP00000444752:L813P;ENSP00000441051:L891P	ENSP00000378635:L891P	L	+	2	0	DRP2	100401737	1.000000	0.71417	0.913000	0.36048	0.996000	0.88848	4.277000	0.58939	1.735000	0.51646	0.430000	0.28490	CTA		0.567	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939	
TCEAL6	158931	hgsc.bcm.edu	37	X	101395951	101395951	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:101395951G>A	ENST00000372774.3	-	3	602	c.353C>T	c.(352-354)aCg>aTg	p.T118M	TCEAL6_ENST00000372773.1_Missense_Mutation_p.T118M	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	118					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GGAATCGTCCGTCCCCCTGTC	0.582																																																	0			X											108.0	100.0	103.0					X																	101395951		2203	4300	6503	101282607	SO:0001583	missense	158931			BC071675	CCDS43978.1	Xq22.1	2014-03-21			ENSG00000204071	ENSG00000204071			24553	protein-coding gene	gene with protein product						16221301	Standard	NM_001006938		Approved	WEX2	uc004eiq.3	Q6IPX3	OTTHUMG00000022050	ENST00000372774.3:c.353C>T	X.37:g.101395951G>A	ENSP00000361860:p.Thr118Met		101282607	Q5H9J8	Missense_Mutation	SNP	ENST00000372774.3	37	CCDS43978.1	.	.	.	.	.	.	.	.	.	.	A	8.200	0.797928	0.16327	.	.	ENSG00000204071	ENST00000372774;ENST00000372773;ENST00000536102	T;T	0.10192	2.9;2.9	2.75	0.957	0.19613	.	0.189930	0.26023	N	0.026805	T	0.25901	0.0631	M	0.79258	2.445	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.04165	-1.0972	10	0.52906	T	0.07	.	4.6463	0.12574	0.326:0.0:0.674:0.0	.	118	Q6IPX3-2	.	M	118	ENSP00000361860:T118M;ENSP00000361859:T118M	ENSP00000361859:T118M	T	-	2	0	TCEAL6	101282607	0.000000	0.05858	0.002000	0.10522	0.235000	0.25334	-0.086000	0.11233	0.131000	0.18576	0.468000	0.43344	ACG		0.582	TCEAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057609.1	NM_001006938	
RNF128	79589	hgsc.bcm.edu	37	X	105970343	105970343	+	Missense_Mutation	SNP	A	A	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:105970343A>T	ENST00000255499.2	+	1	450	c.200A>T	c.(199-201)gAg>gTg	p.E67V	RNF128_ENST00000324342.3_Intron	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	67					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GAGCTGAGCGAGGAGGGCGTG	0.701																																																	0			X											19.0	14.0	15.0					X																	105970343		2196	4276	6472	105856999	SO:0001583	missense	79589			AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000255499.2:c.200A>T	X.37:g.105970343A>T	ENSP00000255499:p.Glu67Val		105856999	A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Missense_Mutation	SNP	ENST00000255499.2	37	CCDS14521.1	.	.	.	.	.	.	.	.	.	.	a	22.5	4.292017	0.80914	.	.	ENSG00000133135	ENST00000255499	T	0.16073	2.37	4.7	4.7	0.59300	.	0.132798	0.56097	D	0.000040	T	0.20170	0.0485	M	0.65677	2.01	0.49483	D	0.999799	P	0.39480	0.675	B	0.39379	0.298	T	0.02484	-1.1152	10	0.30078	T	0.28	.	10.9672	0.47418	1.0:0.0:0.0:0.0	.	67	Q8TEB7	RN128_HUMAN	V	67	ENSP00000255499:E67V	ENSP00000255499:E67V	E	+	2	0	RNF128	105856999	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.585000	0.53943	1.671000	0.50874	0.414000	0.27820	GAG		0.701	RNF128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057804.1	NM_024539	
KLHL13	90293	hgsc.bcm.edu	37	X	117043745	117043745	+	Silent	SNP	G	G	A	rs150238128		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:117043745G>A	ENST00000262820.3	-	5	1794	c.885C>T	c.(883-885)taC>taT	p.Y295Y	KLHL13_ENST00000371876.1_Silent_p.Y244Y|KLHL13_ENST00000371882.1_Silent_p.Y244Y|KLHL13_ENST00000545703.1_Silent_p.Y253Y|KLHL13_ENST00000469946.1_Silent_p.Y244Y|KLHL13_ENST00000540167.1_Silent_p.Y279Y|KLHL13_ENST00000371878.1_Silent_p.Y244Y|KLHL13_ENST00000541812.1_Silent_p.Y279Y|KLHL13_ENST00000539496.1_Silent_p.Y298Y	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	295	BACK.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCGTTTGCACGTAATTAATGA	0.433													G|||	1	0.000264901	0.0008	0.0	3775	,	,		17857	0.0		0.0	False		,,,				2504	0.0																0			X											117.0	96.0	103.0					X																	117043745		2203	4300	6503	116927773	SO:0001819	synonymous_variant	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.885C>T	X.37:g.117043745G>A			116927773	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	ENST00000262820.3	37	CCDS14571.1																																																																																				0.433	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
SMARCA1	6594	hgsc.bcm.edu	37	X	128615123	128615123	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:128615123G>A	ENST00000371122.4	-	18	2386	c.2257C>T	c.(2257-2259)Cgc>Tgc	p.R753C	SMARCA1_ENST00000371121.3_Missense_Mutation_p.R741C|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R741C	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	753					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TTTGCTTTGCGTTCTCGTTTA	0.418																																																	0			X											184.0	122.0	143.0					X																	128615123		2203	4300	6503	128442804	SO:0001583	missense	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2257C>T	X.37:g.128615123G>A	ENSP00000360163:p.Arg753Cys		128442804	Q5JV41|Q5JV42	Missense_Mutation	SNP	ENST00000371122.4	37	CCDS14612.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113797	0.77210	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	D;D;D;D	0.94758	-3.51;-3.51;-3.5;-3.46	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000010	D	0.98267	0.9426	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.991;0.991;0.996;0.991	D	0.99289	1.0898	10	0.87932	D	0	-3.9813	18.9713	0.92716	0.0:0.0:1.0:0.0	.	732;753;741;753	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	C	741;741;753;732	ENSP00000360162:R741C;ENSP00000360164:R741C;ENSP00000360163:R753C;ENSP00000404275:R732C	ENSP00000360162:R741C	R	-	1	0	SMARCA1	128442804	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.962000	0.63687	2.428000	0.82296	0.600000	0.82982	CGC		0.418	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058206.1	NM_003069	
MAGEC1	9947	hgsc.bcm.edu	37	X	140995660	140995660	+	Missense_Mutation	SNP	A	A	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:140995660A>T	ENST00000285879.4	+	4	2756	c.2470A>T	c.(2470-2472)Agt>Tgt	p.S824C	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	824										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CACTTCATCGAGTCTTTCCCA	0.562										HNSCC(15;0.026)																																							0			X											138.0	143.0	141.0					X																	140995660		2203	4300	6503	140823326	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2470A>T	X.37:g.140995660A>T	ENSP00000285879:p.Ser824Cys		140823326	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	13.51	2.259573	0.39995	.	.	ENSG00000155495	ENST00000285879	T	0.02656	4.21	1.81	-3.61	0.04556	.	.	.	.	.	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	B	0.21225	0.053	B	0.17722	0.019	T	0.45644	-0.9247	9	0.72032	D	0.01	.	2.8074	0.05431	0.2269:0.1662:0.0:0.6069	.	824	O60732	MAGC1_HUMAN	C	824	ENSP00000285879:S824C	ENSP00000285879:S824C	S	+	1	0	MAGEC1	140823326	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.145000	0.16157	-0.968000	0.03578	0.231000	0.17811	AGT		0.562	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
FLNA	2316	hgsc.bcm.edu	37	X	153599408	153599408	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:153599408G>A	ENST00000369850.3	-	2	442	c.206C>T	c.(205-207)aCg>aTg	p.T69M	FLNA_ENST00000360319.4_Missense_Mutation_p.T69M|FLNA_ENST00000422373.1_Missense_Mutation_p.T69M|FLNA_ENST00000344736.4_Missense_Mutation_p.T69M	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	69	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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)					GCTCAGGTCCGTCTGCAGGTT	0.617																																																	0			X											56.0	49.0	52.0					X																	153599408		2202	4296	6498	153252602	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.206C>T	X.37:g.153599408G>A	ENSP00000358866:p.Thr69Met		153252602	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	G	12.71	2.020393	0.35606	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67	4.88	4.88	0.63580	Calponin homology domain (5);	0.136701	0.47852	D	0.000203	D	0.94039	0.8090	M	0.84948	2.725	0.80722	D	1	P;P	0.50369	0.844;0.934	B;B	0.44315	0.426;0.446	D	0.93527	0.6866	10	0.59425	D	0.04	.	6.9874	0.24735	0.0929:0.0:0.7334:0.1738	.	69;69	P21333-2;P21333	.;FLNA_HUMAN	M	69;42;69;69;69	ENSP00000353467:T69M;ENSP00000416926:T69M;ENSP00000358866:T69M;ENSP00000358863:T69M	ENSP00000358863:T69M	T	-	2	0	FLNA	153252602	0.173000	0.23056	1.000000	0.80357	0.993000	0.82548	0.518000	0.22847	2.014000	0.59158	0.479000	0.44913	ACG		0.617	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
F8	2157	hgsc.bcm.edu	37	X	154157962	154157962	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:154157962G>T	ENST00000360256.4	-	14	4303	c.4103C>A	c.(4102-4104)cCg>cAg	p.P1368Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1368	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.P1368Q(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GAGGGTGCTCGGGGTCAAATG	0.438																																																	2	Substitution - Missense(2)	lung(2)	X	GRCh37	CD034857	F8	D							235.0	202.0	213.0					X																	154157962		2203	4300	6503	153811156	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4103C>A	X.37:g.154157962G>T	ENSP00000353393:p.Pro1368Gln		153811156	Q14286|Q5HY69	Missense_Mutation	SNP	ENST00000360256.4	37	CCDS35457.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.155946	0.00028	.	.	ENSG00000185010	ENST00000360256	D	0.98400	-4.91	4.64	0.607	0.17564	.	0.997596	0.08116	N	0.995440	D	0.89294	0.6674	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	D	0.83818	0.0245	10	0.11182	T	0.66	-1.3057	4.214	0.10526	0.3471:0.0:0.1915:0.4614	.	1368	P00451	FA8_HUMAN	Q	1368	ENSP00000353393:P1368Q	ENSP00000353393:P1368Q	P	-	2	0	F8	153811156	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.172000	0.09868	-0.260000	0.09418	-0.321000	0.08615	CCG		0.438	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
SEL1L3	23231	hgsc.bcm.edu	37	4	25821535	25821535	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr4:25821535G>A	ENST00000399878.3	-	8	1440	c.1318C>T	c.(1318-1320)Ctt>Ttt	p.L440F	SEL1L3_ENST00000264868.5_Missense_Mutation_p.L405F|SEL1L3_ENST00000502949.1_Missense_Mutation_p.L287F	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	440						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGTTCAGCAAGTTGCTTCTCA	0.403																																																	0			4											65.0	60.0	62.0					4																	25821535		1895	4117	6012	25430633	SO:0001583	missense	0			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.1318C>T	4.37:g.25821535G>A	ENSP00000382767:p.Leu440Phe		25430633	A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	G	11.47	1.649742	0.29336	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949	T;T;T	0.15487	2.63;2.63;2.42	5.95	5.95	0.96441	.	0.324362	0.30311	N	0.009904	T	0.19927	0.0479	L	0.60455	1.87	0.41146	D	0.985991	B	0.23540	0.087	B	0.15870	0.014	T	0.01570	-1.1322	10	0.31617	T	0.26	-18.8247	15.8933	0.79318	0.0:0.0:1.0:0.0	.	440	Q68CR1	SE1L3_HUMAN	F	440;405;287	ENSP00000382767:L440F;ENSP00000264868:L405F;ENSP00000425438:L287F	ENSP00000264868:L405F	L	-	1	0	SEL1L3	25430633	1.000000	0.71417	0.962000	0.40283	0.078000	0.17371	3.566000	0.53805	2.824000	0.97209	0.655000	0.94253	CTT		0.403	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187	
SPATA18	132671	hgsc.bcm.edu	37	4	52938103	52938103	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr4:52938103A>G	ENST00000295213.4	+	6	913	c.539A>G	c.(538-540)cAg>cGg	p.Q180R	SPATA18_ENST00000506829.1_3'UTR|SPATA18_ENST00000419395.2_Missense_Mutation_p.Q148R	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	180					cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CTTCAAGCTCAGGAGGATGCC	0.537																																																	0			4											46.0	47.0	46.0					4																	52938103		2203	4300	6503	52632860	SO:0001583	missense	132671			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.539A>G	4.37:g.52938103A>G	ENSP00000295213:p.Gln180Arg		52632860	B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.350798	0.24512	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;D	0.86432	0.42;-2.12	5.12	5.12	0.69794	.	0.128971	0.64402	D	0.000020	D	0.91720	0.7382	M	0.70595	2.14	0.30220	N	0.796922	D;D;D	0.67145	0.969;0.969;0.996	P;P;D	0.75484	0.766;0.703;0.986	D	0.88649	0.3181	10	0.42905	T	0.14	-20.8417	11.2319	0.48918	1.0:0.0:0.0:0.0	.	148;180;180	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	R	180;148	ENSP00000295213:Q180R;ENSP00000415309:Q148R	ENSP00000295213:Q180R	Q	+	2	0	SPATA18	52632860	1.000000	0.71417	1.000000	0.80357	0.019000	0.09904	3.823000	0.55715	2.139000	0.66308	0.528000	0.53228	CAG		0.537	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263	
KDR	3791	hgsc.bcm.edu	37	4	55958864	55958864	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr4:55958864T>C	ENST00000263923.4	-	22	3284	c.2989A>G	c.(2989-2991)Aag>Gag	p.K997E	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	997	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGAAGTCCTTATACAGATCT	0.443			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											98.0	86.0	90.0					4																	55958864		2203	4300	6503	55653621	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2989A>G	4.37:g.55958864T>C	ENSP00000263923:p.Lys997Glu		55653621	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.116751	0.37339	.	.	ENSG00000128052	ENST00000263923	D	0.82711	-1.64	5.95	5.95	0.96441	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.69895	0.3162	N	0.17379	0.485	0.41100	D	0.985662	P	0.34724	0.465	B	0.35039	0.194	T	0.69591	-0.5104	10	0.06099	T	0.92	.	16.4092	0.83701	0.0:0.0:0.0:1.0	.	997	P35968	VGFR2_HUMAN	E	997	ENSP00000263923:K997E	ENSP00000263923:K997E	K	-	1	0	KDR	55653621	1.000000	0.71417	0.994000	0.49952	0.462000	0.32619	4.861000	0.62969	2.276000	0.75962	0.460000	0.39030	AAG		0.443	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
ANKRD17	26057	hgsc.bcm.edu	37	4	73986678	73986678	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr4:73986678T>C	ENST00000358602.4	-	20	3885	c.3769A>G	c.(3769-3771)Act>Gct	p.T1257A	ANKRD17_ENST00000330838.6_Missense_Mutation_p.T1006A|ANKRD17_ENST00000509867.2_Missense_Mutation_p.T1144A|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1257					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAGGCTAAAGTAAGGGCAGTG	0.423																																																	0			4											156.0	147.0	150.0					4																	73986678		2203	4300	6503	74205542	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3769A>G	4.37:g.73986678T>C	ENSP00000351416:p.Thr1257Ala		74205542	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668529	0.88348	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.63580	-0.05;-0.05;-0.05	5.88	5.88	0.94601	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000002	T	0.63105	0.2483	N	0.12502	0.225	0.53005	D	0.999961	D;D;D;D;D	0.76494	0.999;0.996;0.996;0.997;0.997	D;D;D;D;D	0.83275	0.996;0.987;0.987;0.992;0.992	T	0.61312	-0.7088	10	0.16896	T	0.51	.	16.2881	0.82732	0.0:0.0:0.0:1.0	.	778;1256;1006;1257;1144	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	A	1257;1006;1144	ENSP00000351416:T1257A;ENSP00000332265:T1006A;ENSP00000427151:T1144A	ENSP00000332265:T1006A	T	-	1	0	ANKRD17	74205542	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.036000	0.88901	2.227000	0.72691	0.528000	0.53228	ACT		0.423	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217	
TACR3	6870	hgsc.bcm.edu	37	4	104510879	104510879	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr4:104510879A>G	ENST00000304883.2	-	5	1498	c.1358T>C	c.(1357-1359)tTc>tCc	p.F453S	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	453					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TGAGCTTATGAAACTTGAAGT	0.473																																																	0			4											123.0	122.0	122.0					4																	104510879		2203	4300	6503	104730328	SO:0001583	missense	6870			M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.1358T>C	4.37:g.104510879A>G	ENSP00000303325:p.Phe453Ser		104730328	Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386595	0.82902	.	.	ENSG00000169836	ENST00000304883	T	0.68331	-0.32	5.63	5.63	0.86233	.	0.000000	0.64402	D	0.000001	T	0.69708	0.3141	M	0.80847	2.515	0.44843	D	0.997859	B	0.18013	0.025	B	0.12837	0.008	T	0.69764	-0.5057	10	0.87932	D	0	.	15.0511	0.71872	1.0:0.0:0.0:0.0	.	453	P29371	NK3R_HUMAN	S	453	ENSP00000303325:F453S	ENSP00000303325:F453S	F	-	2	0	TACR3	104730328	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	4.786000	0.62425	2.145000	0.66743	0.533000	0.62120	TTC		0.473	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059	
RRH	10692	hgsc.bcm.edu	37	4	110757206	110757206	+	Silent	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr4:110757206A>G	ENST00000317735.4	+	4	475	c.441A>G	c.(439-441)ggA>ggG	p.G147G		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	147					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TGATTCTGGGAGCCTGGATCA	0.453																																																	0			4											204.0	186.0	192.0					4																	110757206		2203	4300	6503	110976655	SO:0001819	synonymous_variant	10692			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.441A>G	4.37:g.110757206A>G			110976655	A1A4V2|Q7RTS4	Silent	SNP	ENST00000317735.4	37	CCDS3687.1																																																																																				0.453	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255066.1	NM_006583	
FBXW7	55294	hgsc.bcm.edu	37	4	153251901	153251901	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr4:153251901C>A	ENST00000281708.4	-	7	2334	c.1105G>T	c.(1105-1107)Gaa>Taa	p.E369*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.E369*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.E251*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.E369*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.E289*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.E193*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	369					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GATTTGAGTTCTCCTCGCCTC	0.383			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											334.0	286.0	302.0					4																	153251901		2203	4300	6503	153471351	SO:0001587	stop_gained	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1105G>T	4.37:g.153251901C>A	ENSP00000281708:p.Glu369*		153471351	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	38	7.067783	0.98040	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	6.07	6.07	0.98685	.	0.042035	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-27.1765	20.6439	0.99570	0.0:1.0:0.0:0.0	.	.	.	.	X	369;251;289;193	.	ENSP00000263981:E289X	E	-	1	0	FBXW7	153471351	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	GAA		0.383	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FBXW7	55294	hgsc.bcm.edu	37	4	153271206	153271206	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr4:153271206G>C	ENST00000281708.4	-	3	1801	c.572C>G	c.(571-573)tCa>tGa	p.S191*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.S191*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.S73*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.S191*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.S111*|FBXW7_ENST00000393956.3_5'Flank	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	191					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTATATTCTGAGACTTTGCA	0.294			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	0			4											23.0	24.0	23.0					4																	153271206		2190	4281	6471	153490656	SO:0001587	stop_gained	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.572C>G	4.37:g.153271206G>C	ENSP00000281708:p.Ser191*		153490656	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	39	7.784023	0.98486	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981	.	.	.	6.17	6.17	0.99709	.	0.260649	0.39985	N	0.001211	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-13.3727	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	191;73;111	.	ENSP00000263981:S111X	S	-	2	0	FBXW7	153490656	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.835000	0.92100	2.941000	0.99782	0.655000	0.94253	TCA		0.294	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
SNX25	83891	hgsc.bcm.edu	37	4	186267728	186267728	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr4:186267728T>C	ENST00000504273.1	+	13	2027	c.1733T>C	c.(1732-1734)cTt>cCt	p.L578P	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.L578P			Q9H3E2	SNX25_HUMAN	sorting nexin 25	578	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TTGCCTTCTCTTAGCAAGCTG	0.308																																																	0			4											61.0	64.0	63.0					4																	186267728		2203	4298	6501	186504722	SO:0001583	missense	83891			AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.1733T>C	4.37:g.186267728T>C	ENSP00000426255:p.Leu578Pro		186504722	Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.851787	0.71719	.	.	ENSG00000109762	ENST00000504273;ENST00000264694;ENST00000264693	T;T	0.38240	1.15;1.15	5.43	5.43	0.79202	Phox homologous domain (5);	0.000000	0.85682	D	0.000000	T	0.50922	0.1644	L	0.39245	1.2	0.80722	D	1	D;B;D	0.89917	1.0;0.45;1.0	D;B;D	0.97110	0.993;0.325;1.0	T	0.42548	-0.9445	10	0.33940	T	0.23	-14.4644	15.7735	0.78190	0.0:0.0:0.0:1.0	.	349;111;578	Q8N6K3;Q9H5Q8;Q9H3E2	.;.;SNX25_HUMAN	P	578;578;111	ENSP00000426255:L578P;ENSP00000264694:L578P	ENSP00000264693:L111P	L	+	2	0	SNX25	186504722	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.379000	0.79691	2.190000	0.69967	0.533000	0.62120	CTT		0.308	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953	
APOB	338	hgsc.bcm.edu	37	2	21227488	21227488	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:21227488C>A	ENST00000233242.1	-	27	11975	c.11848G>T	c.(11848-11850)Gca>Tca	p.A3950S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3950					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)					TCACGGTGTGCAAATGTTCCT	0.348																																																	0			2											167.0	159.0	162.0					2																	21227488		2203	4300	6503	21080993	SO:0001583	missense	338			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.11848G>T	2.37:g.21227488C>A	ENSP00000233242:p.Ala3950Ser		21080993	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	10.20	1.283560	0.23392	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.19394	2.15	5.99	2.9	0.33743	.	0.882419	0.09750	N	0.760771	T	0.18964	0.0455	L	0.55103	1.725	0.18873	N	0.999987	B	0.14438	0.01	B	0.12156	0.007	T	0.37197	-0.9716	10	0.20046	T	0.44	.	6.1696	0.20410	0.2183:0.6065:0.0913:0.0839	.	3950	P04114	APOB_HUMAN	S	3950	ENSP00000233242:A3950S	ENSP00000233242:A3950S	A	-	1	0	APOB	21080993	0.978000	0.34361	0.156000	0.22583	0.610000	0.37248	0.251000	0.18257	0.357000	0.24183	0.655000	0.94253	GCA		0.348	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
PAPOLG	64895	hgsc.bcm.edu	37	2	61021301	61021301	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:61021301C>T	ENST00000238714.3	+	19	2213	c.1964C>T	c.(1963-1965)cCt>cTt	p.P655L		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	655					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			GATGGGACTCCTAAGAGGTTG	0.368																																					GBM(183;1497 2932 21839 46797)												0			2											63.0	61.0	61.0					2																	61021301		2203	4300	6503	60874805	SO:0001583	missense	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1964C>T	2.37:g.61021301C>T	ENSP00000238714:p.Pro655Leu		60874805	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496375	0.64186	.	.	ENSG00000115421	ENST00000238714;ENST00000378104;ENST00000412217	.	.	.	6.03	6.03	0.97812	.	0.269734	0.42294	D	0.000729	T	0.60843	0.2300	L	0.48642	1.525	0.44092	D	0.996859	B;B;B	0.24317	0.061;0.101;0.001	B;B;B	0.29077	0.045;0.098;0.008	T	0.52924	-0.8510	9	0.28530	T	0.3	-16.3894	20.1519	0.98089	0.0:1.0:0.0:0.0	.	344;189;655	E9PEP5;Q53T81;Q9BWT3	.;.;PAPOG_HUMAN	L	655;344;323	.	ENSP00000238714:P655L	P	+	2	0	PAPOLG	60874805	0.395000	0.25254	0.577000	0.28562	0.927000	0.56198	4.504000	0.60414	2.861000	0.98227	0.655000	0.94253	CCT		0.368	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894	
TET3	200424	hgsc.bcm.edu	37	2	74329089	74329089	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:74329089A>G	ENST00000409262.3	+	9	4769	c.4769A>G	c.(4768-4770)gAg>gGg	p.E1590G		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1590					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCACGGCAGGAGGAGGCTGCC	0.657																																																	0			2											13.0	16.0	15.0					2																	74329089		2005	4140	6145	74182597	SO:0001583	missense	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.4769A>G	2.37:g.74329089A>G	ENSP00000386869:p.Glu1590Gly		74182597	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	A	15.25	2.776968	0.49786	.	.	ENSG00000187605	ENST00000409262;ENST00000233310	T	0.14640	2.49	5.18	5.18	0.71444	.	0.061993	0.64402	D	0.000004	T	0.26484	0.0647	M	0.67397	2.05	0.46044	D	0.998831	D	0.57257	0.979	P	0.51777	0.679	T	0.01541	-1.1329	10	0.62326	D	0.03	.	14.1531	0.65401	1.0:0.0:0.0:0.0	.	1590	O43151	TET3_HUMAN	G	1590;1474	ENSP00000386869:E1590G	ENSP00000233310:E1474G	E	+	2	0	TET3	74182597	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	6.964000	0.76061	2.186000	0.69663	0.533000	0.62120	GAG		0.657	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
TRIM43	129868	hgsc.bcm.edu	37	2	96260179	96260179	+	Missense_Mutation	SNP	C	C	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:96260179C>G	ENST00000272395.2	+	2	544	c.408C>G	c.(406-408)caC>caG	p.H136Q		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	136						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CTGAGGAACACCGGGTAAGAG	0.488																																																	0			2											41.0	42.0	42.0					2																	96260179		2201	4296	6497	95623906	SO:0001583	missense	129868			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.408C>G	2.37:g.96260179C>G	ENSP00000272395:p.His136Gln		95623906	Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	4.671	0.124789	0.08931	.	.	ENSG00000144015	ENST00000272395	T	0.56103	0.48	1.22	1.22	0.21188	.	.	.	.	.	T	0.33381	0.0861	N	0.21282	0.65	0.09310	N	1	B	0.14805	0.011	B	0.19148	0.024	T	0.21177	-1.0253	9	0.45353	T	0.12	-0.0892	3.6351	0.08146	0.0:0.7443:0.0:0.2557	.	136	Q96BQ3	TRI43_HUMAN	Q	136	ENSP00000272395:H136Q	ENSP00000272395:H136Q	H	+	3	2	TRIM43	95623906	0.082000	0.21442	0.028000	0.17463	0.140000	0.21249	0.155000	0.16362	0.998000	0.38996	0.375000	0.23000	CAC		0.488	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800	
GCC2	9648	hgsc.bcm.edu	37	2	109086275	109086275	+	Silent	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:109086275T>C	ENST00000309863.6	+	6	1204	c.490T>C	c.(490-492)Tta>Cta	p.L164L	GCC2_ENST00000485546.1_3'UTR	NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	164					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAATACGCAATTAGAACTTTC	0.338																																																	0			2											86.0	91.0	89.0					2																	109086275		2203	4300	6503	108452707	SO:0001819	synonymous_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.490T>C	2.37:g.109086275T>C			108452707	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Silent	SNP	ENST00000309863.6	37	CCDS33268.1																																																																																				0.338	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
BIN1	274	hgsc.bcm.edu	37	2	127811527	127811527	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:127811527A>G	ENST00000316724.5	-	13	1604	c.1193T>C	c.(1192-1194)cTc>cCc	p.L398P	BIN1_ENST00000409400.1_Intron|BIN1_ENST00000351659.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000357970.3_Missense_Mutation_p.L355P	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	398	Clathrin-binding.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CACGGGCGGGAGGGGGTCAAA	0.657																																																	0			2											23.0	24.0	23.0					2																	127811527		2126	4152	6278	127527997	SO:0001583	missense	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1193T>C	2.37:g.127811527A>G	ENSP00000316779:p.Leu398Pro		127527997	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Missense_Mutation	SNP	ENST00000316724.5	37	CCDS2138.1	.	.	.	.	.	.	.	.	.	.	A	19.89	3.911607	0.72983	.	.	ENSG00000136717	ENST00000357970;ENST00000316724	T;T	0.66638	-0.22;0.89	5.35	4.16	0.48862	.	0.467416	0.23427	N	0.048281	T	0.61135	0.2323	L	0.38175	1.15	0.80722	D	1	P;P	0.52692	0.955;0.877	B;P	0.48524	0.44;0.58	T	0.57201	-0.7852	10	0.35671	T	0.21	-7.2432	10.5812	0.45257	0.8552:0.0:0.0:0.1448	.	355;398	O00499-5;O00499	.;BIN1_HUMAN	P	355;398	ENSP00000350654:L355P;ENSP00000316779:L398P	ENSP00000316779:L398P	L	-	2	0	BIN1	127527997	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	4.564000	0.60830	0.845000	0.35118	0.369000	0.22263	CTC		0.657	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343	
WDR33	55339	hgsc.bcm.edu	37	2	128463917	128463917	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:128463917C>T	ENST00000322313.4	-	22	4149	c.3991G>A	c.(3991-3993)Ggt>Agt	p.G1331S		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1331					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTTCCACCACCCCGTGAAGCT	0.577																																																	0			2											98.0	106.0	103.0					2																	128463917		2203	4300	6503	128180387	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.3991G>A	2.37:g.128463917C>T	ENSP00000325377:p.Gly1331Ser		128180387	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859715	0.51376	.	.	ENSG00000136709	ENST00000322313	D	0.96334	-3.98	5.47	5.47	0.80525	.	0.069516	0.56097	D	0.000021	D	0.96197	0.8760	N	0.14661	0.345	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97540	1.0085	10	0.87932	D	0	-8.0291	19.6923	0.96007	0.0:1.0:0.0:0.0	.	1331	Q9C0J8	WDR33_HUMAN	S	1331	ENSP00000325377:G1331S	ENSP00000325377:G1331S	G	-	1	0	WDR33	128180387	1.000000	0.71417	0.702000	0.30337	0.070000	0.16714	6.039000	0.70972	2.712000	0.92718	0.650000	0.86243	GGT		0.577	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
ZEB2	9839	hgsc.bcm.edu	37	2	145162505	145162505	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:145162505C>T	ENST00000558170.2	-	5	1674	c.490G>A	c.(490-492)Gag>Aag	p.E164K	ZEB2_ENST00000539609.3_Missense_Mutation_p.E140K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E164K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E164K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	164					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AGGTACTCCTCGATGCTGACT	0.473																																					Melanoma(33;1235 1264 5755 16332)												0			2											99.0	83.0	88.0					2																	145162505		2203	4300	6503	144878975	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.490G>A	2.37:g.145162505C>T	ENSP00000454157:p.Glu164Lys		144878975	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.540109	0.65085	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	5.62	5.62	0.85841	.	0.048286	0.85682	D	0.000000	T	0.77691	0.4168	L	0.49126	1.545	0.47123	D	0.999324	P;B;B;B	0.43519	0.809;0.167;0.052;0.052	B;B;B;B	0.37047	0.24;0.01;0.016;0.016	T	0.80730	-0.1252	10	0.66056	D	0.02	-11.8692	20.0114	0.97452	0.0:1.0:0.0:0.0	.	140;29;163;164	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	K	159;140;164;164;164;164	ENSP00000443792:E140K;ENSP00000302501:E164K;ENSP00000386854:E164K;ENSP00000395496:E164K;ENSP00000376601:E164K	ENSP00000302501:E164K	E	-	1	0	ZEB2	144878975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.795000	0.96236	0.655000	0.94253	GAG		0.473	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
TTN	7273	hgsc.bcm.edu	37	2	179431541	179431541	+	Missense_Mutation	SNP	G	G	A	rs55861600	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:179431541G>A	ENST00000591111.1	-	276	74619	c.74395C>T	c.(74395-74397)Cgc>Tgc	p.R24799C	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R26440C|TTN_ENST00000359218.5_Missense_Mutation_p.R17500C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17567C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23872C|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R17375C|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24799	Fibronectin type-III 80. {ECO:0000255|PROSITE-ProRule:PRU00316}.		R -> H. {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGTAATGCGGCGTTTATTA	0.418													G|||	33	0.00658946	0.0219	0.0043	5008	,	,		16799	0.001		0.0	False		,,,				2504	0.0																0			2						G	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	99,3633		2,95,1769	66.0	66.0	66.0		52123,71614,52498,52699	4.9	1.0	2	dbSNP_129	66	1,8213		0,1,4106	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	180,180,180,180	2,96,5875	AA,AG,GG		0.0122,2.6527,0.8371	probably-damaging,probably-damaging,probably-damaging,probably-damaging	17375/26927,23872/33424,17500/27052,17567/27119	179431541	100,11846	1866	4107	5973	179139787	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.74395C>T	2.37:g.179431541G>A	ENSP00000465570:p.Arg24799Cys		179139787	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37		16	0.007326007326007326	14	0.028455284552845527	2	0.0055248618784530384	0	0.0	0	0.0	G	11.27	1.589985	0.28357	0.026527	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59906	0.23;0.23;0.23;0.23	5.75	4.87	0.63330	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44435	0.1293	L	0.60012	1.86	0.53005	D	0.999962	D;D;D;D	0.69078	0.997;0.997;0.997;0.997	P;P;P;P	0.60345	0.873;0.873;0.873;0.873	T	0.63107	-0.6711	9	0.87932	D	0	.	11.8922	0.52635	0.0:0.1318:0.7311:0.1371	rs55861600	17375;17500;17567;24799	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	23872;17375;17567;17500;17373	ENSP00000343764:R23872C;ENSP00000434586:R17375C;ENSP00000340554:R17567C;ENSP00000352154:R17500C	ENSP00000340554:R17567C	R	-	1	0	TTN	179139787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.401000	0.52601	1.400000	0.46741	0.561000	0.74099	CGC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179436094	179436094	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:179436094C>T	ENST00000591111.1	-	276	70066	c.69842G>A	c.(69841-69843)aGg>aAg	p.R23281K	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R24922K|TTN_ENST00000359218.5_Missense_Mutation_p.R15982K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16049K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22354K|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15857K|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23281	Fibronectin type-III 69. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGCTGTCCCTGGAGGACAG	0.473																																																	0			2											116.0	110.0	112.0					2																	179436094		1935	4166	6101	179144340	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.69842G>A	2.37:g.179436094C>T	ENSP00000465570:p.Arg23281Lys		179144340	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	7.898	0.733740	0.15574	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	5.39	0.177	0.15054	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19644	0.0472	N	0.00611	-1.325	0.23712	N	0.997049	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.22906	-1.0203	9	0.87932	D	0	.	6.3835	0.21548	0.0:0.3952:0.138:0.4668	.	15857;15982;16049;23281	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	22354;15857;16049;15982;15855	ENSP00000343764:R22354K;ENSP00000434586:R15857K;ENSP00000340554:R16049K;ENSP00000352154:R15982K	ENSP00000340554:R16049K	R	-	2	0	TTN	179144340	1.000000	0.71417	0.232000	0.24009	0.479000	0.33129	2.271000	0.43364	-0.130000	0.11599	-0.312000	0.09012	AGG		0.473	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179596497	179596497	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:179596497G>T	ENST00000591111.1	-	56	16378	c.16154C>A	c.(16153-16155)gCa>gAa	p.A5385E	TTN_ENST00000589042.1_Missense_Mutation_p.A5702E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.A4458E|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12204	Ig-like 34.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAGCATCTGCAGCTACAAA	0.483																																																	0			2											109.0	110.0	110.0					2																	179596497		1953	4149	6102	179304742	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.16154C>A	2.37:g.179596497G>T	ENSP00000465570:p.Ala5385Glu		179304742	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	8.246	0.807952	0.16467	.	.	ENSG00000155657	ENST00000342992	T	0.37411	1.2	5.93	5.05	0.67936	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.28665	0.0710	N	0.16037	0.36	0.22266	N	0.999241	B	0.18610	0.029	B	0.27608	0.081	T	0.34775	-0.9815	9	0.87932	D	0	.	15.416	0.74970	0.067:0.0:0.933:0.0	.	5385	Q8WZ42	TITIN_HUMAN	E	4458	ENSP00000343764:A4458E	ENSP00000343764:A4458E	A	-	2	0	TTN	179304742	0.527000	0.26306	0.945000	0.38365	0.993000	0.82548	3.662000	0.54510	1.504000	0.48704	0.655000	0.94253	GCA		0.483	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CRYGB	1419	hgsc.bcm.edu	37	2	209010729	209010729	+	Silent	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:209010729G>A	ENST00000260988.4	-	2	68	c.21C>T	c.(19-21)taC>taT	p.Y7Y		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	7	Beta/gamma crystallin 'Greek key' 1. {ECO:0000255|PROSITE-ProRule:PRU00028}.				lens fiber cell morphogenesis (GO:0070309)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCCTGTCCTCGTAGAAGGTGA	0.582																																																	0			2											91.0	83.0	86.0					2																	209010729		2203	4300	6503	208718974	SO:0001819	synonymous_variant	1419				CCDS2380.1	2q34	2013-02-14			ENSG00000182187	ENSG00000182187			2409	protein-coding gene	gene with protein product		123670	"""crystallin, gamma 1-2"""	CRYG2			Standard	NM_005210		Approved		uc002vcp.4	P07316	OTTHUMG00000132941	ENST00000260988.4:c.21C>T	2.37:g.209010729G>A			208718974	Q17RB5|Q53ST2	Silent	SNP	ENST00000260988.4	37	CCDS2380.1																																																																																				0.582	CRYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256473.2	NM_005210	
WNT10A	80326	hgsc.bcm.edu	37	2	219746977	219746977	+	Missense_Mutation	SNP	C	C	T	rs146460077	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:219746977C>T	ENST00000258411.3	+	2	841	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	70					cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|epidermis morphogenesis (GO:0048730)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|neural crest cell differentiation (GO:0014033)|neuron differentiation (GO:0030182)|odontogenesis (GO:0042476)|positive regulation of gene expression (GO:0010628)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sebaceous gland development (GO:0048733)|skin development (GO:0043588)|tongue development (GO:0043586)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGAGCCGGCGGCAGATGGA	0.607													C|||	14	0.00279553	0.0	0.0014	5008	,	,		17871	0.0		0.0	False		,,,				2504	0.0133																0			2						C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	86.0	88.0		208	0.7	1.0	2	dbSNP_134	88	17,8583	12.6+/-44.7	0,17,4283	yes	missense	WNT10A	NM_025216.2	101	0,18,6485	TT,TC,CC		0.1977,0.0227,0.1384	probably-damaging	70/418	219746977	18,12988	2203	4300	6503	219455221	SO:0001583	missense	80326			AB059569	CCDS2426.1	2q35	2008-05-23			ENSG00000135925	ENSG00000135925		"""Wingless-type MMTV integration sites"""	13829	protein-coding gene	gene with protein product		606268				11350055, 17847007	Standard	NM_025216		Approved		uc002vjd.1	Q9GZT5	OTTHUMG00000133085	ENST00000258411.3:c.208C>T	2.37:g.219746977C>T	ENSP00000258411:p.Arg70Trp		219455221	Q53S44|Q96TA7|Q9H7S8	Missense_Mutation	SNP	ENST00000258411.3	37	CCDS2426.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	C|C	18.64|18.64	3.667560|3.667560	0.67814|0.67814	2.27E-4|2.27E-4	0.001977|0.001977	ENSG00000135925|ENSG00000135925	ENST00000458582|ENST00000258411	.|T	.|0.77229	.|-1.08	4.82|4.82	0.679|0.679	0.17975|0.17975	.|.	.|0.068078	.|0.56097	.|D	.|0.000023	D|D	0.88206|0.88206	0.6374|0.6374	M|M	0.90705|0.90705	3.14|3.14	0.53688|0.53688	D|D	0.999973|0.999973	.|D	.|0.76494	.|0.999	.|D	.|0.67725	.|0.953	D|D	0.88678|0.88678	0.3200|0.3200	5|10	.|0.87932	.|D	.|0	.|.	13.6227|13.6227	0.62146|0.62146	0.5329:0.4671:0.0:0.0|0.5329:0.4671:0.0:0.0	.|.	.|70	.|Q9GZT5	.|WN10A_HUMAN	V|W	32|70	.|ENSP00000258411:R70W	.|ENSP00000258411:R70W	A|R	+|+	2|1	0|2	WNT10A|WNT10A	219455221|219455221	0.994000|0.994000	0.37717|0.37717	0.966000|0.966000	0.40874|0.40874	0.837000|0.837000	0.47467|0.47467	0.471000|0.471000	0.22100|0.22100	-0.183000|-0.183000	0.10585|0.10585	-0.475000|-0.475000	0.04921|0.04921	GCG|CGG		0.607	WNT10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256730.2	NM_025216	
COL6A3	1293	hgsc.bcm.edu	37	2	238275460	238275460	+	Silent	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:238275460C>T	ENST00000295550.4	-	11	5822	c.5370G>A	c.(5368-5370)gcG>gcA	p.A1790A	COL6A3_ENST00000409809.1_Silent_p.A1584A|COL6A3_ENST00000472056.1_Silent_p.A1183A|COL6A3_ENST00000353578.4_Silent_p.A1584A|COL6A3_ENST00000346358.4_Silent_p.A1590A|COL6A3_ENST00000347401.3_Silent_p.A1589A	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1790	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CGCTGTTGGACGCTATCTTTC	0.552																																																	0			2											94.0	88.0	90.0					2																	238275460		2203	4300	6503	237940199	SO:0001819	synonymous_variant	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5370G>A	2.37:g.238275460C>T			237940199	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																				0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
GLIS3	169792	hgsc.bcm.edu	37	9	4117899	4117899	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr9:4117899C>T	ENST00000324333.10	-	3	1307	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N	GLIS3_ENST00000381971.3_Missense_Mutation_p.D527N	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	372					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTGCGCTGGTCGATGTGGACC	0.602																																																	0			9											126.0	111.0	116.0					9																	4117899		2203	4300	6503	4107899	SO:0001583	missense	169792			BC033899	CCDS6451.1, CCDS43784.1	9p24.2	2008-05-02	2004-07-16	2004-07-16	ENSG00000107249	ENSG00000107249		"""Zinc fingers, C2H2-type"""	28510	protein-coding gene	gene with protein product		610192	"""zinc finger protein 515"""	ZNF515		14500813	Standard	NM_152629		Approved	MGC33662	uc003zhx.1	Q8NEA6	OTTHUMG00000019463	ENST00000324333.10:c.1114G>A	9.37:g.4117899C>T	ENSP00000325494:p.Asp372Asn		4107899	B1AL19|Q1PHK5	Missense_Mutation	SNP	ENST00000324333.10	37	CCDS6451.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114507	0.94339	.	.	ENSG00000107249	ENST00000324333;ENST00000381971	D;D	0.88664	-2.41;-2.08	5.51	5.51	0.81932	Zinc finger, C2H2 (1);	0.000000	0.53938	D	0.000049	D	0.90160	0.6925	N	0.13098	0.295	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;1.0;0.999;1.0	P;D;D;D;D	0.83275	0.881;0.973;0.981;0.981;0.996	D	0.91787	0.5440	10	0.59425	D	0.04	.	19.4269	0.94746	0.0:1.0:0.0:0.0	.	35;40;40;527;372	Q1PHK4;Q1PHK2;Q1PHK3;Q8NEA6-2;Q8NEA6	.;.;.;.;GLIS3_HUMAN	N	372;527	ENSP00000325494:D372N;ENSP00000371398:D527N	ENSP00000325494:D372N	D	-	1	0	GLIS3	4107899	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	7.792000	0.85828	2.595000	0.87683	0.655000	0.94253	GAC		0.602	GLIS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051559.1	NM_152629	
SNAPC3	6619	hgsc.bcm.edu	37	9	15433600	15433600	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr9:15433600G>A	ENST00000380821.3	+	3	619	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	SNAPC3_ENST00000461041.1_3'UTR|RNU6-319P_ENST00000516025.1_RNA	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	148					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		ACAATAGATCGAGCCTGCAGA	0.348																																																	0			9											146.0	145.0	145.0					9																	15433600		2203	4300	6503	15423600	SO:0001583	missense	6619			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.443G>A	9.37:g.15433600G>A	ENSP00000370200:p.Arg148Gln		15423600	D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	ENST00000380821.3	37	CCDS6478.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426737	0.83667	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.50548	0.74	5.39	5.39	0.77823	.	0.201144	0.46758	D	0.000264	T	0.66426	0.2788	M	0.67953	2.075	0.80722	D	1	D;P	0.76494	0.999;0.756	D;B	0.77557	0.99;0.106	T	0.68663	-0.5349	10	0.66056	D	0.02	-13.5248	14.6437	0.68745	0.0:0.0:1.0:0.0	.	119;148	B4DDR9;Q92966	.;SNPC3_HUMAN	Q	148;148;119;148	ENSP00000370200:R148Q	ENSP00000370185:R148Q	R	+	2	0	SNAPC3	15423600	1.000000	0.71417	0.952000	0.39060	0.973000	0.67179	5.246000	0.65411	2.520000	0.84964	0.655000	0.94253	CGA		0.348	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051763.2	NM_001039697	
MELK	9833	hgsc.bcm.edu	37	9	36651833	36651833	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr9:36651833T>C	ENST00000298048.2	+	12	1196	c.1012T>C	c.(1012-1014)Tcc>Ccc	p.S338P	MELK_ENST00000536329.1_Missense_Mutation_p.S267P|MELK_ENST00000536860.1_Missense_Mutation_p.S290P|MELK_ENST00000543751.1_Missense_Mutation_p.S306P|MELK_ENST00000545008.1_Missense_Mutation_p.S267P|MELK_ENST00000536987.1_Missense_Mutation_p.S207P|MELK_ENST00000538311.1_Missense_Mutation_p.S144P|MELK_ENST00000541717.1_Missense_Mutation_p.S338P	NM_014791.3	NP_055606.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	338	Autoinhibitory region.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neural precursor cell proliferation (GO:0061351)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)	cell cortex (GO:0005938)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TTCTTCTTTCTCCTGTGGACA	0.488																																					Ovarian(82;980 1317 7225 14391 18624)												0			9											211.0	196.0	201.0					9																	36651833		2203	4300	6503	36641833	SO:0001583	missense	9833			D79997	CCDS6606.1, CCDS59123.1, CCDS59124.1, CCDS59125.1, CCDS59126.1, CCDS59127.1, CCDS59128.1	9p13.1	2008-02-05			ENSG00000165304	ENSG00000165304			16870	protein-coding gene	gene with protein product		607025				8724849, 9136115	Standard	NM_001256689		Approved	KIAA0175	uc003zzn.4	Q14680	OTTHUMG00000019906	ENST00000298048.2:c.1012T>C	9.37:g.36651833T>C	ENSP00000298048:p.Ser338Pro		36641833	A6P3A7|A6P3A8|B1AMQ6|B7Z1E6|B7Z5M5|B7Z6Q7|B7Z6R8|B7Z6Y0|B7Z7Q1|D3DRP8|F5H0Y0|F5H2R4|F5H689|Q7L3C3	Missense_Mutation	SNP	ENST00000298048.2	37	CCDS6606.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.390663	0.62066	.	.	ENSG00000165304	ENST00000298048;ENST00000538311;ENST00000536987;ENST00000545008;ENST00000536860;ENST00000536329;ENST00000541717;ENST00000543751	T;T;T;T;T;T;T;T	0.71934	-0.43;0.56;0.35;0.88;0.26;-0.61;-0.39;-0.43	5.63	3.18	0.36537	.	0.411874	0.28459	N	0.015274	T	0.62171	0.2406	N	0.25647	0.755	0.09310	N	1	P;P;B;B;P;P;B	0.52842	0.59;0.956;0.009;0.004;0.902;0.835;0.01	B;P;B;B;P;P;B	0.52554	0.391;0.702;0.028;0.011;0.548;0.514;0.013	T	0.51655	-0.8678	10	0.34782	T	0.22	-8.0493	6.7365	0.23413	0.1486:0.0:0.1536:0.6978	.	258;267;290;338;267;306;338	B7Z1G6;F5H2R4;F5H0Y0;F5H689;A6P3A8;A6P3A7;Q14680	.;.;.;.;.;.;MELK_HUMAN	P	338;144;207;267;290;267;338;306	ENSP00000298048:S338P;ENSP00000438226:S144P;ENSP00000439184:S207P;ENSP00000445452:S267P;ENSP00000439792:S290P;ENSP00000443550:S267P;ENSP00000437804:S338P;ENSP00000441596:S306P	ENSP00000298048:S338P	S	+	1	0	MELK	36641833	0.094000	0.21725	0.902000	0.35471	0.951000	0.60555	0.793000	0.26944	2.145000	0.66743	0.533000	0.62120	TCC		0.488	MELK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052428.3	NM_014791	
SPATA31D1	389763	hgsc.bcm.edu	37	9	84603895	84603895	+	Silent	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr9:84603895C>T	ENST00000344803.2	+	1	209	c.162C>T	c.(160-162)acC>acT	p.T54T		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	54					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CGTCACCCACCGAAAAAAATA	0.423																																																	0			9											193.0	161.0	171.0					9																	84603895		1881	4103	5984	83793715	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.162C>T	9.37:g.84603895C>T			83793715		Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																				0.423	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
SPATA31D1	389763	hgsc.bcm.edu	37	9	84606600	84606600	+	Silent	SNP	A	A	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr9:84606600A>T	ENST00000344803.2	+	4	1262	c.1215A>T	c.(1213-1215)tcA>tcT	p.S405S		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	405					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TTAACATCTCATTTCTCAGCC	0.458																																																	0			9											95.0	82.0	86.0					9																	84606600		1852	4102	5954	83796420	SO:0001819	synonymous_variant	0				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1215A>T	9.37:g.84606600A>T			83796420		Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																				0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
ZNF189	7743	hgsc.bcm.edu	37	9	104171602	104171602	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr9:104171602G>A	ENST00000339664.2	+	3	1681	c.1552G>A	c.(1552-1554)Gga>Aga	p.G518R	ZNF189_ENST00000374861.3_Missense_Mutation_p.G504R|ZNF189_ENST00000259395.4_Missense_Mutation_p.G476R	NM_001278240.1	NP_001265169.1	O75820	ZN189_HUMAN	zinc finger protein 189	518					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CAGACAGTGTGGAAAAAGCTT	0.433																																																	0			9											95.0	95.0	95.0					9																	104171602		2203	4300	6503	103211423	SO:0001583	missense	7743			AF025770	CCDS6754.1, CCDS6755.1, CCDS65096.1, CCDS75867.1	9q22-q31	2013-01-08			ENSG00000136870	ENSG00000136870		"""Zinc fingers, C2H2-type"", ""-"""	12980	protein-coding gene	gene with protein product		603132				9653648	Standard	NM_003452		Approved		uc004bbh.2	O75820	OTTHUMG00000020383	ENST00000339664.2:c.1552G>A	9.37:g.104171602G>A	ENSP00000342019:p.Gly518Arg		103211423	O75802|Q5T7D7|Q5T7D8|Q5T7D9|Q9UBL4|Q9UPE9|Q9UPF0|Q9UPF1	Missense_Mutation	SNP	ENST00000339664.2	37	CCDS6754.1	.	.	.	.	.	.	.	.	.	.	G	14.99	2.701670	0.48307	.	.	ENSG00000136870	ENST00000374861;ENST00000339664;ENST00000259395	T;T;T	0.21361	2.01;2.01;2.01	4.23	4.23	0.50019	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.46145	D	0.000306	T	0.47563	0.1452	M	0.81802	2.56	0.43930	D	0.996587	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.985;0.985;0.948	T	0.50833	-0.8781	10	0.59425	D	0.04	.	14.9244	0.70866	0.0:0.0:1.0:0.0	.	503;504;518	B7ZLK9;Q5T7D8;O75820	.;.;ZN189_HUMAN	R	504;518;476	ENSP00000363995:G504R;ENSP00000342019:G518R;ENSP00000259395:G476R	ENSP00000259395:G476R	G	+	1	0	ZNF189	103211423	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.694000	0.61760	2.635000	0.89317	0.563000	0.77884	GGA		0.433	ZNF189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053447.1	NM_003452	
ZMYM2	7750	hgsc.bcm.edu	37	13	20632767	20632767	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr13:20632767C>T	ENST00000382874.2	+	16	2736	c.2546C>T	c.(2545-2547)gCa>gTa	p.A849V	ZMYM2_ENST00000382883.3_Missense_Mutation_p.A331V|ZMYM2_ENST00000382871.2_Missense_Mutation_p.A849V|ZMYM2_ENST00000382869.3_Missense_Mutation_p.A849V	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	849					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AAGAACAAAGCAGTTCTTTGC	0.373																																																	0			13											143.0	135.0	137.0					13																	20632767		1877	4112	5989	19530767	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.2546C>T	13.37:g.20632767C>T	ENSP00000372327:p.Ala849Val		19530767	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	ENST00000382874.2	37	CCDS45016.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122516	0.94429	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382883;ENST00000382870	T;T	0.57107	1.98;0.42	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.73133	0.3548	M	0.74467	2.265	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.77156	-0.2691	10	0.72032	D	0.01	-0.7548	18.2277	0.89923	0.0:1.0:0.0:0.0	.	849	Q9UBW7	ZMYM2_HUMAN	V	849;849;847;847;331;227	ENSP00000372322:A849V;ENSP00000372336:A331V	ENSP00000372322:A849V	A	+	2	0	ZMYM2	19530767	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.445000	0.80570	2.378000	0.81104	0.585000	0.79938	GCA		0.373	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453	
FLT1	2321	hgsc.bcm.edu	37	13	29001900	29001900	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr13:29001900A>G	ENST00000282397.4	-	9	1516	c.1265T>C	c.(1264-1266)cTa>cCa	p.L422P	FLT1_ENST00000539099.1_Missense_Mutation_p.L422P|FLT1_ENST00000541932.1_Missense_Mutation_p.L422P	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	422			L -> I (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTGACAATTAGAGTGGCAGT	0.353																																																	0			13											140.0	127.0	131.0					13																	29001900		2203	4300	6503	27899900	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1265T>C	13.37:g.29001900A>G	ENSP00000282397:p.Leu422Pro		27899900	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740481	0.69304	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	D;D;D	0.87571	-2.27;-2.27;-2.27	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.96178	0.8754	H	0.97852	4.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97789	1.0237	10	0.87932	D	0	.	16.026	0.80545	1.0:0.0:0.0:0.0	.	422;422;422;422	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	P	422	ENSP00000282397:L422P;ENSP00000437631:L422P;ENSP00000442630:L422P	ENSP00000282397:L422P	L	-	2	0	FLT1	27899900	1.000000	0.71417	0.794000	0.32065	0.746000	0.42486	8.219000	0.89770	2.189000	0.69895	0.528000	0.53228	CTA		0.353	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
BRCA2	675	hgsc.bcm.edu	37	13	32907503	32907503	+	Missense_Mutation	SNP	A	A	G	rs80359315		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr13:32907503A>G	ENST00000380152.3	+	10	2121	c.1888A>G	c.(1888-1890)Aca>Gca	p.T630A	BRCA2_ENST00000544455.1_Missense_Mutation_p.T630A			P51587	BRCA2_HUMAN	breast cancer 2, early onset	630			T -> I (in ovarian cancer).		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGCACCACTTACATTTGCAAA	0.313			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0			13											36.0	37.0	37.0					13																	32907503		2181	4221	6402	31805503	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.1888A>G	13.37:g.32907503A>G	ENSP00000369497:p.Thr630Ala		31805503	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	12.46	1.946032	0.34377	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00745	5.75;5.75	5.5	-1.97	0.07503	.	0.892392	0.09623	N	0.777347	T	0.00875	0.0029	M	0.70595	2.14	0.09310	N	1	B;P	0.39782	0.028;0.688	B;B	0.31946	0.006;0.138	T	0.41592	-0.9500	10	0.51188	T	0.08	.	1.409	0.02287	0.2725:0.1754:0.3809:0.1712	.	630;630	P51587;A1YBP1	BRCA2_HUMAN;.	A	630	ENSP00000369497:T630A;ENSP00000439902:T630A	ENSP00000369497:T630A	T	+	1	0	BRCA2	31805503	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.103000	0.15292	-0.138000	0.11434	-0.344000	0.07964	ACA		0.313	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
ATP7B	540	hgsc.bcm.edu	37	13	52515241	52515241	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr13:52515241T>C	ENST00000242839.4	-	16	3688	c.3532A>G	c.(3532-3534)Aca>Gca	p.T1178A	ATP7B_ENST00000344297.5_Missense_Mutation_p.T971A|ATP7B_ENST00000417240.2_Missense_Mutation_p.T389A|ATP7B_ENST00000400370.3_Missense_Mutation_p.T748A|ATP7B_ENST00000418097.2_Missense_Mutation_p.T1113A|ATP7B_ENST00000400366.3_Missense_Mutation_p.T1067A|ATP7B_ENST00000448424.2_Missense_Mutation_p.T1100A|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1178					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	AGGATGGCTGTCTGTCCTTTC	0.498									Wilson disease																																								0			13	GRCh37	CM061649	ATP7B	M							167.0	162.0	163.0					13																	52515241		2043	4184	6227	51413242	SO:0001583	missense	540	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3532A>G	13.37:g.52515241T>C	ENSP00000242839:p.Thr1178Ala		51413242	Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	T	19.25	3.790957	0.70452	.	.	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.96554	-4.05;-4.05;-4.05;-4.05;-4.05;-4.05;-4.05	5.0	5.0	0.66597	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.97676	0.9238	M	0.72353	2.195	0.80722	D	1	P;B;D;B;D;P;D;P	0.60575	0.859;0.134;0.988;0.383;0.988;0.885;0.988;0.908	D;B;D;B;D;P;D;D	0.75484	0.93;0.376;0.986;0.437;0.986;0.905;0.986;0.917	D	0.98487	1.0608	10	0.87932	D	0	-17.8217	15.1541	0.72726	0.0:0.0:0.0:1.0	.	1100;1130;1113;389;748;1067;971;1178	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	A	1178;1067;971;389;1100;748;1113	ENSP00000242839:T1178A;ENSP00000383217:T1067A;ENSP00000342559:T971A;ENSP00000390360:T389A;ENSP00000416738:T1100A;ENSP00000383221:T748A;ENSP00000393343:T1113A	ENSP00000242839:T1178A	T	-	1	0	ATP7B	51413242	1.000000	0.71417	0.997000	0.53966	0.971000	0.66376	7.776000	0.85560	2.225000	0.72522	0.533000	0.62120	ACA		0.498	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053	
ARMC4	55130	hgsc.bcm.edu	37	10	28260161	28260161	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr10:28260161G>A	ENST00000305242.5	-	8	1110	c.1018C>T	c.(1018-1020)Cgc>Tgc	p.R340C	ARMC4_ENST00000239715.3_Missense_Mutation_p.R197C|ARMC4_ENST00000537576.1_Missense_Mutation_p.R32C|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000480504.1_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	340					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.R340C(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATGTCTTTGCGGAGGGCAGCT	0.418																																																	1	Substitution - Missense(1)	prostate(1)	10											80.0	77.0	78.0					10																	28260161		2203	4300	6503	28300167	SO:0001583	missense	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.1018C>T	10.37:g.28260161G>A	ENSP00000306410:p.Arg340Cys		28300167	A8K906|B7Z7I1|Q9H0C0	Missense_Mutation	SNP	ENST00000305242.5	37	CCDS7157.1	.	.	.	.	.	.	.	.	.	.	g	8.100	0.776434	0.16051	.	.	ENSG00000169126	ENST00000537576;ENST00000305242;ENST00000537573;ENST00000434029;ENST00000239715	T;T;T;T	0.22743	1.95;1.94;1.94;1.94	3.76	-2.77	0.05877	.	5.610880	0.00166	N	0.000010	T	0.14917	0.0360	L	0.36672	1.1	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24440	-1.0160	10	0.52906	T	0.07	-7.2146	0.53	0.00626	0.2141:0.1514:0.2409:0.3937	.	340	Q5T2S8	ARMC4_HUMAN	C	32;340;32;234;197	ENSP00000443208:R32C;ENSP00000306410:R340C;ENSP00000398155:R234C;ENSP00000239715:R197C	ENSP00000239715:R197C	R	-	1	0	ARMC4	28300167	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.841000	0.04359	-0.397000	0.07691	-0.848000	0.03037	CGC		0.418	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1	NM_018076	
ANKRD30A	91074	hgsc.bcm.edu	37	10	37431115	37431115	+	Silent	SNP	C	C	T	rs369621160		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr10:37431115C>T	ENST00000602533.1	+	7	1221	c.1122C>T	c.(1120-1122)tgC>tgT	p.C374C	ANKRD30A_ENST00000374660.1_Silent_p.C374C|ANKRD30A_ENST00000361713.1_Silent_p.C374C			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	430					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C374C(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGACTGGATGCGTGGCAAGAG	0.393																																																	1	Substitution - coding silent(1)	endometrium(1)	10						C		3,3727		0,3,1862	76.0	75.0	76.0		1122	0.1	0.0	10		76	0,8226		0,0,4113	no	coding-synonymous	ANKRD30A	NM_052997.2		0,3,5975	TT,TC,CC		0.0,0.0804,0.0251		374/1342	37431115	3,11953	1865	4113	5978	37471121	SO:0001819	synonymous_variant	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1122C>T	10.37:g.37431115C>T			37471121	Q5W025	Silent	SNP	ENST00000602533.1	37																																																																																					0.393	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
WDFY4	57705	hgsc.bcm.edu	37	10	50034812	50034812	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr10:50034812C>A	ENST00000325239.5	+	35	6106	c.6079C>A	c.(6079-6081)Cag>Aag	p.Q2027K	WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2027						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CAAGCCCCAGCAGTCCCTCTC	0.488																																																	0			10											103.0	87.0	92.0					10																	50034812		692	1591	2283	49704818	SO:0001583	missense	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.6079C>A	10.37:g.50034812C>A	ENSP00000320563:p.Gln2027Lys		49704818	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	ENST00000325239.5	37	CCDS44385.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	12.16|12.16|12.16	1.855834|1.855834|1.855834	0.32791|0.32791|0.32791	.|.|.	.|.|.	ENSG00000128815|ENSG00000128815|ENSG00000128815	ENST00000312002|ENST00000426033;ENST00000325239|ENST00000265453	.|T|.	.|0.53640|.	.|0.61|.	5.62|5.62|5.62	5.62|5.62|5.62	0.85841|0.85841|0.85841	.|.|.	.|0.171433|.	.|0.41823|.	.|D|.	.|0.000808|.	T|T|T	0.57154|0.57154|0.57154	0.2034|0.2034|0.2034	L|L|L	0.37630|0.37630|0.37630	1.12|1.12|1.12	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P|.	.|0.48764|.	.|0.915|.	.|P|.	.|0.44860|.	.|0.462|.	T|T|T	0.52419|0.52419|0.52419	-0.8578|-0.8578|-0.8578	5|9|5	.|.|.	.|.|.	.|.|.	.|.|.	13.5949|13.5949|13.5949	0.61984|0.61984|0.61984	0.155:0.845:0.0:0.0|0.155:0.845:0.0:0.0|0.155:0.845:0.0:0.0	.|.|.	.|2027|.	.|Q6ZS81|.	.|WDFY4_HUMAN|.	E|K|R	1117|2027|113	.|ENSP00000320563:Q2027K|.	.|.|.	A|Q|S	+|+|+	2|1|3	0|0|2	WDFY4|WDFY4|WDFY4	49704818|49704818|49704818	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	3.847000|3.847000|3.847000	0.55895|0.55895|0.55895	2.646000|2.646000|2.646000	0.89796|0.89796|0.89796	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|CAG|AGC		0.488	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_033379	
ANK3	288	hgsc.bcm.edu	37	10	61829033	61829033	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr10:61829033G>A	ENST00000280772.2	-	37	11797	c.11606C>T	c.(11605-11607)gCc>gTc	p.A3869V	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3869					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGTGAAGTGGCCTTTATGGG	0.398																																																	0			10											301.0	296.0	298.0					10																	61829033		2203	4300	6503	61499039	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11606C>T	10.37:g.61829033G>A	ENSP00000280772:p.Ala3869Val		61499039	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	G	13.58	2.278236	0.40294	.	.	ENSG00000151150	ENST00000280772	T	0.18016	2.24	5.07	5.07	0.68467	.	0.000000	0.41938	D	0.000796	T	0.27629	0.0679	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.06338	-1.0832	10	0.23302	T	0.38	.	18.8003	0.92013	0.0:0.0:1.0:0.0	.	3869	Q12955	ANK3_HUMAN	V	3869	ENSP00000280772:A3869V	ENSP00000280772:A3869V	A	-	2	0	ANK3	61499039	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.020000	0.76419	2.511000	0.84671	0.650000	0.86243	GCC		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
TET1	80312	hgsc.bcm.edu	37	10	70426935	70426935	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr10:70426935G>A	ENST00000373644.4	+	7	4804	c.4595G>A	c.(4594-4596)cGg>cAg	p.R1532Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1532					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATGGCCGACCGGCTATACACA	0.488																																																	0			10											96.0	79.0	85.0					10																	70426935		2203	4300	6503	70096941	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4595G>A	10.37:g.70426935G>A	ENSP00000362748:p.Arg1532Gln		70096941	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319987	0.23994	.	.	ENSG00000138336	ENST00000373644;ENST00000545846	T	0.22743	1.94	5.21	-1.09	0.09904	TET cysteine-rich domain (1);	0.875458	0.09976	N	0.731632	T	0.16938	0.0407	L	0.57536	1.79	0.09310	N	1	B	0.33413	0.411	B	0.24394	0.053	T	0.16630	-1.0396	10	0.48119	T	0.1	.	7.1581	0.25649	0.3526:0.1771:0.4703:0.0	.	1532	Q8NFU7	TET1_HUMAN	Q	1532;4	ENSP00000362748:R1532Q	ENSP00000362748:R1532Q	R	+	2	0	TET1	70096941	0.000000	0.05858	0.001000	0.08648	0.027000	0.11550	0.202000	0.17295	-0.004000	0.14419	0.585000	0.79938	CGG		0.488	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625	
C10orf105	414152	hgsc.bcm.edu	37	10	73491853	73491853	+	Intron	SNP	C	C	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr10:73491853C>G	ENST00000398786.2	-	1	97				CDH23_ENST00000224721.6_Silent_p.T1280T	NM_001168390.1	NP_001161862.1	Q8TEF2	CJ105_HUMAN	chromosome 10 open reading frame 105							integral component of membrane (GO:0016021)											ACTACGAGACCAAGACCAGCT	0.567																																																	0			10											84.0	90.0	88.0					10																	73491853		2142	4239	6381	73161859	SO:0001627	intron_variant	64072			AK074172	CCDS44430.1	10q22.1	2012-06-01			ENSG00000214688	ENSG00000214688			20304	protein-coding gene	gene with protein product							Standard	NM_001164375		Approved	FLJ00245	uc001jsa.2	Q8TEF2	OTTHUMG00000018427	ENST00000398786.2:c.4+5631G>C	10.37:g.73491853C>G			73161859		Silent	SNP	ENST00000398786.2	37	CCDS44430.1																																																																																				0.567	C10orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048551.2	NM_001164375	
PTEN	5728	hgsc.bcm.edu	37	10	89693001	89693001	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr10:89693001A>G	ENST00000371953.3	+	5	1842	c.485A>G	c.(484-486)gAc>gGc	p.D162G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	162	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D162G(1)|p.F56fs*2(1)|p.D162fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCAGAGACAAAAAGGTA	0.358		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	52	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Substitution - Missense(1)|Insertion - Frameshift(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|thyroid(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	10											50.0	51.0	51.0					10																	89693001		2203	4300	6503	89682981	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.485A>G	10.37:g.89693001A>G	ENSP00000361021:p.Asp162Gly		89682981	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	24.6	4.546607	0.86022	.	.	ENSG00000171862	ENST00000371953	D	0.98512	-4.97	5.09	5.09	0.68999	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.98400	0.9468	M	0.71920	2.185	0.80722	D	1	D	0.61080	0.989	P	0.60117	0.869	D	0.98667	1.0686	9	.	.	.	-8.2651	14.8682	0.70434	1.0:0.0:0.0:0.0	.	162	P60484	PTEN_HUMAN	G	162	ENSP00000361021:D162G	.	D	+	2	0	PTEN	89682981	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.918000	0.92759	1.898000	0.54952	0.460000	0.39030	GAC		0.358	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CFAP58	159686	hgsc.bcm.edu	37	10	106160468	106160468	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr10:106160468C>A	ENST00000369704.3	+	13	1980	c.1846C>A	c.(1846-1848)Cag>Aag	p.Q616K	snoU13_ENST00000458914.1_RNA	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		616						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CCTGGGGTCTCAGCTTGTTCG	0.498																																																	0			10											158.0	131.0	140.0					10																	106160468		2203	4300	6503	106150458	SO:0001583	missense	159686																														ENST00000369704.3:c.1846C>A	10.37:g.106160468C>A	ENSP00000358718:p.Gln616Lys		106150458	D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	C	33	5.271062	0.95429	.	.	ENSG00000120051	ENST00000369704	T	0.46819	0.86	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	M	0.89840	3.065	0.80722	D	1	D	0.69078	0.997	P	0.61201	0.885	T	0.75022	-0.3464	10	0.37606	T	0.19	-23.587	19.645	0.95773	0.0:1.0:0.0:0.0	.	616	Q5T655	CC147_HUMAN	K	616	ENSP00000358718:Q616K	ENSP00000358718:Q616K	Q	+	1	0	CCDC147	106150458	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.647000	0.89833	0.655000	0.94253	CAG		0.498	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1		
RANBP3L	202151	hgsc.bcm.edu	37	5	36265126	36265126	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr5:36265126C>T	ENST00000296604.3	-	6	900	c.415G>A	c.(415-417)Gta>Ata	p.V139I	RANBP3L_ENST00000515759.1_Missense_Mutation_p.V139I|RANBP3L_ENST00000502994.1_Missense_Mutation_p.V164I	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	139					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GTTTTTCTTACTTTTGCACAA	0.358																																																	0			5											147.0	151.0	149.0					5																	36265126		2203	4300	6503	36300883	SO:0001583	missense	202151			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.415G>A	5.37:g.36265126C>T	ENSP00000296604:p.Val139Ile		36300883	B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	ENST00000296604.3	37	CCDS3918.1	.	.	.	.	.	.	.	.	.	.	C	7.083	0.570688	0.13560	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759	T;T;T	0.23950	1.88;1.91;1.9	5.26	0.258	0.15578	.	1.075670	0.07187	N	0.854992	T	0.20618	0.0496	L	0.54323	1.7	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33292	-0.9874	10	0.22706	T	0.39	0.4999	3.0973	0.06314	0.3244:0.4117:0.0:0.2639	.	164;139	E9PGP9;Q86VV4	.;RNB3L_HUMAN	I	139;164;139	ENSP00000296604:V139I;ENSP00000421853:V164I;ENSP00000421149:V139I	ENSP00000296604:V139I	V	-	1	0	RANBP3L	36300883	0.002000	0.14202	0.003000	0.11579	0.508000	0.34012	-0.521000	0.06245	0.104000	0.17725	-0.188000	0.12872	GTA		0.358	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253773.2	NM_145000	
RNF180	285671	hgsc.bcm.edu	37	5	63510221	63510221	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr5:63510221C>A	ENST00000389100.4	+	4	1140	c.1068C>A	c.(1066-1068)gaC>gaA	p.D356E	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Missense_Mutation_p.D356E	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	356	Interaction with ZIC2. {ECO:0000250}.				adult behavior (GO:0030534)|norepinephrine metabolic process (GO:0042415)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|regulation of catalytic activity (GO:0050790)|serotonin metabolic process (GO:0042428)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		CCCCTCTGGACTTCCTGCACT	0.483																																																	0			5											66.0	69.0	68.0					5																	63510221		2203	4300	6503	63545977	SO:0001583	missense	285671			AK090756	CCDS34169.1, CCDS47219.1	5q12.3	2013-01-09			ENSG00000164197	ENSG00000164197		"""RING-type (C3HC4) zinc fingers"""	27752	protein-coding gene	gene with protein product							Standard	NM_178532		Approved		uc003jti.3	Q86T96	OTTHUMG00000162278	ENST00000389100.4:c.1068C>A	5.37:g.63510221C>A	ENSP00000373752:p.Asp356Glu		63545977	Q0JSU3|Q495A8|Q8NBD1	Missense_Mutation	SNP	ENST00000389100.4	37	CCDS47219.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.080981	0.36758	.	.	ENSG00000164197	ENST00000296615;ENST00000389100	T	0.46063	0.88	5.85	3.83	0.44106	.	0.575312	0.19383	N	0.115619	T	0.30135	0.0755	L	0.56769	1.78	0.80722	D	1	B;P	0.38504	0.361;0.634	B;B	0.31101	0.115;0.124	T	0.26815	-1.0092	10	0.49607	T	0.09	-6.2583	2.5139	0.04663	0.2346:0.4876:0.0:0.2778	.	356;356	Q86T96;Q86T96-2	RN180_HUMAN;.	E	356	ENSP00000373752:D356E	ENSP00000296615:D356E	D	+	3	2	RNF180	63545977	0.995000	0.38212	1.000000	0.80357	0.948000	0.59901	0.598000	0.24074	1.472000	0.48140	0.650000	0.86243	GAC		0.483	RNF180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368394.1	NM_178532	
APC	324	hgsc.bcm.edu	37	5	112175480	112175480	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr5:112175480G>T	ENST00000457016.1	+	16	4569	c.4189G>T	c.(4189-4191)Gag>Tag	p.E1397*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.E1397*|APC_ENST00000508376.2_Nonsense_Mutation_p.E1397*			P25054	APC_HUMAN	adenomatous polyposis coli	1397	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1399fs*9(18)|p.E1397*(8)|p.Y1376fs*41(1)|p.?(1)|p.K1192fs*3(1)|p.E1397fs*19(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGATAGTTTTGAGAGTCGTTC	0.473		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	30	Deletion - Frameshift(20)|Substitution - Nonsense(8)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(28)|soft_tissue(1)|skin(1)	5	GRCh37	CM992136	APC	M							104.0	98.0	100.0					5																	112175480		2202	4300	6502	112203379	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4189G>T	5.37:g.112175480G>T	ENSP00000413133:p.Glu1397*		112203379	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	41	8.742411	0.98937	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.17	6.17	0.99709	.	0.111909	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-17.9405	20.4898	0.99202	0.0:0.0:1.0:0.0	.	.	.	.	X	1397	.	.	E	+	1	0	APC	112203379	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.281000	0.78621	2.941000	0.99782	0.655000	0.94253	GAG		0.473	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175483	112175483	+	Missense_Mutation	SNP	A	A	T			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr5:112175483A>T	ENST00000457016.1	+	16	4572	c.4192A>T	c.(4192-4194)Agt>Tgt	p.S1398C	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S1398C|APC_ENST00000508376.2_Missense_Mutation_p.S1398C			P25054	APC_HUMAN	adenomatous polyposis coli	1398	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1399fs*9(10)|p.Y1376fs*41(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAGTTTTGAGAGTCGTTCGAT	0.473		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	13	Deletion - Frameshift(12)|Unknown(1)	large_intestine(11)|soft_tissue(1)|skin(1)	5	GRCh37	CD054298	APC	D							108.0	101.0	103.0					5																	112175483		2202	4300	6502	112203382	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4192A>T	5.37:g.112175483A>T	ENSP00000413133:p.Ser1398Cys		112203382	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	18.20	3.571877	0.65765	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.90385	-2.66;-2.66;-2.66	6.17	6.17	0.99709	.	0.083847	0.85682	D	0.000000	D	0.93400	0.7895	L	0.55990	1.75	0.49915	D	0.999837	D;D	0.76494	0.999;0.999	D;D	0.64042	0.921;0.921	D	0.92710	0.6182	9	.	.	.	-20.8522	16.4957	0.84242	1.0:0.0:0.0:0.0	.	1400;1398	Q4LE70;P25054	.;APC_HUMAN	C	1398	ENSP00000413133:S1398C;ENSP00000257430:S1398C;ENSP00000427089:S1398C	.	S	+	1	0	APC	112203382	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.853000	0.69496	2.371000	0.80710	0.533000	0.62120	AGT		0.473	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHA12	56137	hgsc.bcm.edu	37	5	140257074	140257074	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr5:140257074G>A	ENST00000398631.2	+	1	2017	c.2017G>A	c.(2017-2019)Ggc>Agc	p.G673S	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	673	Cadherin 6. {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(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGAACGGCCAGGCCCC	0.672																																					Pancreas(113;759 1672 13322 24104 50104)												0			5											46.0	50.0	49.0					5																	140257074		2203	4298	6501	140237258	SO:0001583	missense	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2017G>A	5.37:g.140257074G>A	ENSP00000381628:p.Gly673Ser		140237258	O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.003103	0.35320	.	.	ENSG00000251664	ENST00000398631	T	0.48522	0.81	4.94	0.6	0.17524	Cadherin (3);	.	.	.	.	T	0.25717	0.0626	N	0.21240	0.645	0.09310	N	1	B;B	0.32302	0.363;0.106	B;B	0.18561	0.022;0.01	T	0.12915	-1.0529	9	0.17369	T	0.5	.	8.2282	0.31582	0.3619:0.0:0.6381:0.0	.	673;673	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	S	673	ENSP00000381628:G673S	ENSP00000381628:G673S	G	+	1	0	PCDHA12	140237258	0.008000	0.16893	0.001000	0.08648	0.037000	0.13140	0.923000	0.28757	-0.211000	0.10124	0.655000	0.94253	GGC		0.672	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
PDZD8	118987	hgsc.bcm.edu	37	10	119100490	119100490	+	Splice_Site	SNP	C	C	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr10:119100490C>G	ENST00000334464.5	-	2	1235		c.e2+1			NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8						cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		AAAGAACATACCTGCTACATT	0.348																																																	0			10											159.0	133.0	142.0					10																	119100490		2203	4300	6503	119090480	SO:0001630	splice_region_variant	118987			AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.995+1G>C	10.37:g.119100490C>G			119090480	Q86WE0|Q86WE5|Q9UFF1	Splice_Site	SNP	ENST00000334464.5	37	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507835	0.64410	.	.	ENSG00000165650	ENST00000334464	.	.	.	5.19	5.19	0.71726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6278	0.68635	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PDZD8	119090480	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.089000	0.57685	2.608000	0.88229	0.585000	0.79938	.		0.348	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1	NM_173791	Intron
C2orf71	388939	hgsc.bcm.edu	37	2	29287926	29287927	+	In_Frame_Ins	INS	-	-	GCT	rs139768554|rs72122505|rs201781577|rs35753661	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:29287926_29287927insGCT	ENST00000331664.5	-	2	3674_3675	c.3675_3676insAGC	c.(3673-3678)agcgag>agcAGCgag	p.1225_1226insS	C2orf71_ENST00000602958.1_5'Flank	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1225			S -> SS. {ECO:0000269|PubMed:21412943}.		response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.S1225_E1226insS(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGCTCTCCTCGCTGCTGCTGC	0.624														1871	0.373602	0.5257	0.2637	5008	,	,		17644	0.4931		0.2545	False		,,,				2504	0.2454																2	Insertion - In frame(2)	ovary(1)|breast(1)	2								1580,1994		462,656,669						5.2	1.0		dbSNP_130	16	1923,5511		406,1111,2200	no	coding	C2orf71	NM_001029883.1		868,1767,2869	A1A1,A1R,RR		25.8676,44.2082,31.8223				3503,7505				29141431	SO:0001652	inframe_insertion	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3673_3675dupAGC	2.37:g.29287933_29287935dupGCT	ENSP00000332809:p.Ser1225_Ser1225dup		29141430		In_Frame_Ins	INS	ENST00000331664.5	37	CCDS42669.1																																																																																				0.624	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883	
ZFP36L2	678	hgsc.bcm.edu	37	2	43452464	43452465	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:43452464_43452465insG	ENST00000282388.3	-	2	771_772	c.478_479insC	c.(478-480)cggfs	p.R160fs	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	160					cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				CTCGAAGGGCCGGCACAGCTCG	0.649																																																	0			2																																								43305969	SO:0001589	frameshift_variant	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.479dupC	2.37:g.43452466_43452466dupG	ENSP00000282388:p.Arg160fs		43305968	Q53TB4|Q9BSJ3	Frame_Shift_Ins	INS	ENST00000282388.3	37	CCDS1811.1																																																																																				0.649	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250513.2	NM_006887	
MYL1	4632	hgsc.bcm.edu	37	2	211179766	211179766	+	Start_Codon_Del	DEL	T	T	-			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr2:211179766delT	ENST00000352451.3	-	0	148					NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast						cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TTTGGTGCCATTTTTTTTTTT	0.527																																																	0			2								406,181,73,3588		24,5,3,350,0,0,176,1,68,1497	86.0	117.0	107.0			5.4	1.0	2	dbSNP_130	111	68,327,4,7851		0,1,0,67,0,0,326,0,4,3727	no	codingComplex	MYL1	NM_079420.2		24,6,3,417,0,0,502,1,72,5224	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8364,15.5367,8.4734			211179766	474,508,77,11439	2199	4299	6498	210888011	SO:0001582	initiator_codon_variant	4632				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992		2.37:g.211179766delT			210888011	B2R4N6|B2R4T6|P06741|Q6IBD5	Frame_Shift_Del	DEL	ENST00000352451.3	37	CCDS2390.1																																																																																				0.527	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420	
APC	324	hgsc.bcm.edu	37	5	112175480	112175481	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	GA	GA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr5:112175480_112175481delGA	ENST00000457016.1	+	16	4569_4570	c.4189_4190delGA	c.(4189-4191)gagfs	p.E1397fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.E1397fs|APC_ENST00000508376.2_Frame_Shift_Del_p.E1397fs			P25054	APC_HUMAN	adenomatous polyposis coli	1397	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1399fs*9(19)|p.E1397*(8)|p.Y1376fs*41(1)|p.?(1)|p.K1192fs*3(1)|p.E1397fs*19(1)|p.E1397fs*18(1)|p.E1397fs*12(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TGATAGTTTTGAGAGTCGTTCG	0.475		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	33	Deletion - Frameshift(22)|Substitution - Nonsense(8)|Insertion - Frameshift(2)|Unknown(1)	large_intestine(31)|soft_tissue(1)|skin(1)	5	GRCh37	CM992136	APC	M																																				112203380	SO:0001589	frameshift_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4189_4190delGA	5.37:g.112175482_112175483delGA	ENSP00000413133:p.Glu1397fs		112203379	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.475	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
CYP21A2	1589	hgsc.bcm.edu	37	6	32006215	32006217	+	In_Frame_Del	DEL	CTG	CTG	-	rs61338903|rs138498156	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	CTG	CTG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:32006215_32006217delCTG	ENST00000418967.2	+	1	174_176	c.16_18delCTG	c.(16-18)ctgdel	p.L10del	CYP21A2_ENST00000435122.2_In_Frame_Del_p.L10del|C4B-AS1_ENST00000415626.1_RNA	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	0					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	gctcctgggcctgctgctgctgc	0.67														1086	0.216853	0.0356	0.3703	5008	,	,		14879	0.2123		0.336	False		,,,				2504	0.2352				Melanoma(174;1669 1998 3915 34700 46447)												0			6							,	328,3316		88,152,1582					,	1.1	0.8		dbSNP_134	4	2077,4999		596,885,2057	no	coding,coding	CYP21A2	NM_001128590.3,NM_000500.7	,	684,1037,3639	A1A1,A1R,RR		29.3527,9.0011,22.4347	,	,		2405,8315				32114196	SO:0001651	inframe_deletion	1589			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.16_18delCTG	6.37:g.32006224_32006226delCTG	ENSP00000408860:p.Leu10del		32114194	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	In_Frame_Del	DEL	ENST00000418967.2	37	CCDS4735.1																																																																																				0.670	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268768.2	NM_000500	
HLA-DQA1	3117	hgsc.bcm.edu	37	6	32609239	32609241	+	In_Frame_Del	DEL	GGT	GGT	-	rs12722072|rs41556812|rs12722074|rs534654325	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	GGT	GGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr6:32609239_32609241delGGT	ENST00000343139.5	+	2	337_339	c.235_237delGGT	c.(235-237)ggtdel	p.G79del	HLA-DQA1_ENST00000395363.1_In_Frame_Del_p.G79del|HLA-DQA1_ENST00000374949.2_In_Frame_Del_p.G79del	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAATTTGGAGGTTTTGACCCGC	0.502														1751	0.349641	0.3646	0.4236	5008	,	,		12241	0.2669		0.4046	False		,,,				2504	0.3057																0			6																																								32717219	SO:0001651	inframe_deletion	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.235_237delGGT	6.37:g.32609239_32609241delGGT	ENSP00000339398:p.Gly79del		32717217	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	In_Frame_Del	DEL	ENST00000343139.5	37	CCDS4752.1																																																																																				0.502	HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	INS	-	-	C			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	-	-					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrUnknown:0_0insC								None (None upstream) : None (None downstream)																								0.0																																																	0			7																																								6160040	SO:0001628	intergenic_variant	84132																															Unknown.37:g.0_0insC			6160039		Frame_Shift_Ins	INS		37																																																																																				0	0								
FOXD4L2	100036519	hgsc.bcm.edu	37	9	42719309	42719311	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	GCT	GCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr9:42719309_42719311delGCT	ENST00000377590.1	+	1	2076_2078	c.1244_1246delGCT	c.(1243-1248)cgctgc>cgc	p.C416del		NM_001099279.1	NP_001092749.1	Q6VB85	FX4L2_HUMAN	forkhead box D4-like 2	416					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CCTCGTCGGCGCTGCTGAGGTAT	0.64																																																	0			9																																								42709307	SO:0001651	inframe_deletion	100036519					9p12	2008-07-21			ENSG00000204828				24813	protein-coding gene	gene with protein product						12421752	Standard			Approved	OTTHUMG00000066752	uc004acn.3	Q6VB85	OTTHUMG00000066752	ENST00000377590.1:c.1244_1246delGCT	9.37:g.42719312_42719314delGCT	ENSP00000366814:p.Cys416del		42709305		In_Frame_Del	DEL	ENST00000377590.1	37	CCDS43817.1																																																																																				0.640	FOXD4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143077.1	NM_001099279	
NDUFS8	4728	hgsc.bcm.edu	37	11	67795378	67795379	+	5'Flank	INS	-	-	C	rs11436139|rs397801590|rs58238184		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr11:67795378_67795379insC	ENST00000313468.5	+	0	0				ALDH3B1_ENST00000007633.8_Splice_Site|ALDH3B1_ENST00000539229.1_Splice_Site|RP5-901A4.1_ENST00000532296.1_RNA|NDUFS8_ENST00000528492.1_5'Flank|ALDH3B1_ENST00000342456.6_Splice_Site|ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|lung(5)|skin(1)	8						GGCCATGGAGGCCAAGGCTGCA	0.703													CCC|CC|CCC|deletion	5007	0.9998	0.9992	1.0	5008	,	,		16547	1.0		1.0	False		,,,				2504	1.0				Colon(116;1205 2770 20054)												0			11							,,	4124,30		2052,20,5					,,	-1.9	0.2		dbSNP_120	21	8086,22		4038,10,6	no	frameshift,frameshift,frameshift	ALDH3B1	NM_001161473.1,NM_001030010.1,NM_000694.2	,,	6090,30,11	A1A1,A1R,RR		0.2713,0.7222,0.4241	,,	,,		12210,52				67551955	SO:0001631	upstream_gene_variant	221			U65579	CCDS8176.1	11q13.2	2011-07-04	2002-08-29		ENSG00000110717	ENSG00000110717	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7715	protein-coding gene	gene with protein product	"""complex I 23kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 8, mitochondrial"""	602141	"""NADH dehydrogenase (ubiquinone) Fe-S protein 8 (23kD) (NADH-coenzyme Q reductase)"""			9666055, 9116042	Standard	NM_002496		Approved	TYKY, CI-23k	uc001onc.3	O00217	OTTHUMG00000167331		11.37:g.67795380_67795380dupC	Exception_encountered		67551954	B2RB86|Q0VDA8	Frame_Shift_Ins	INS	ENST00000313468.5	37	CCDS8176.1																																																																																				0.703	NDUFS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394193.1	NM_002496	
GOLGA6L6	727832	hgsc.bcm.edu	37	15	20739844	20739885	+	In_Frame_Del	DEL	GTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCT	GTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCT	-	rs201730658|rs59357493|rs573292352|rs57050697	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	GTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCT	GTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr15:20739844_20739885delGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCT	ENST00000427390.2	-	8	1955_1996	c.1865_1906delAGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATAC	c.(1864-1908)caggagcaggaggagaagatacgggagcaggaggagaagatacga>cga	p.QEQEEKIREQEEKI622del		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	622	Gln-rich.|Glu-rich.							p.Q631H(1)		NS(3)|endometrium(4)|kidney(1)|skin(3)	11						tcctgctctcgtatcttctcctcctgctcccgtatcttctcctcctgctcctgtatcttctc	0.541																																																	1	Substitution - Missense(1)	NS(1)	15								209,1379		83,43,668							0.0			3	905,2113		338,229,942	no	coding	GOLGA6L6	NM_001145004.1		421,272,1610	A1A1,A1R,RR		29.9867,13.1612,24.1858				1114,3492				18999899	SO:0001651	inframe_deletion	0			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1865_1906delAGGAGCAGGAGGAGAAGATACGGGAGCAGGAGGAGAAGATAC	15.37:g.20739844_20739885delGTATCTTCTCCTCCTGCTCCCGTATCTTCTCCTCCTGCTCCT	ENSP00000398615:p.Gln622_Ile635del		18999858	D3YTC0	In_Frame_Del	DEL	ENST00000427390.2	37	CCDS45184.1																																																																																				0.541	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004	
HAP1	9001	hgsc.bcm.edu	37	17	39888590	39888591	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr17:39888590_39888591insCT	ENST00000310778.5	-	3	614_615	c.605_606insAG	c.(604-606)aggfs	p.R202fs	RN7SL399P_ENST00000471648.2_RNA|JUP_ENST00000540235.1_Intron|HAP1_ENST00000393939.2_Frame_Shift_Ins_p.R202fs|HAP1_ENST00000347901.4_Frame_Shift_Ins_p.R202fs|HAP1_ENST00000341193.5_Frame_Shift_Ins_p.R210fs			P54257	HAP1_HUMAN	huntingtin-associated protein 1	202	HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGTTCAGGTCCCTCTCTCTCTG	0.589																																																	0			17																																								37142117	SO:0001589	frameshift_variant	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.604_605dupAG	17.37:g.39888599_39888600dupCT	ENSP00000309392:p.Arg202fs		37142116	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Frame_Shift_Ins	INS	ENST00000310778.5	37																																																																																					0.589	HAP1-006	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389619.1	NM_003949	
POLI	11201	hgsc.bcm.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	CGA	CGA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000579434.1_5'UTR|POLI_ENST00000217800.5_5'Flank|POLI_ENST00000406285.3_In_Frame_Del_p.D17del	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914																1	Deletion - In frame(1)	large_intestine(1)	18								3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				50049958	SO:0001651	inframe_deletion	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del		50049956	Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	CCDS11954.2																																																																																				0.729	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
FAM9A	171482	hgsc.bcm.edu	37	X	8766191	8766199	+	Splice_Site	DEL	CTGCAATAT	CTGCAATAT	-			TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	CTGCAATAT	CTGCAATAT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:8766191_8766199delCTGCAATAT	ENST00000543214.1	-	5	500_508	c.365_373delATATTGCAG	c.(364-375)catattgcagct>cct	p.122_125HIAA>P	FAM9A_ENST00000381003.3_Splice_Site_p.122_125HIAA>P	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	122						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TAAAACATACCTGCAATATGTTCTAGCTT	0.321																																																	0			X																																								8726199	SO:0001630	splice_region_variant	171482				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.373+1ATATTGCAG>-	X.37:g.8766191_8766199delCTGCAATAT			8726191	B7ZLH5|Q2M2D1	Frame_Shift_Del	DEL	ENST00000543214.1	37	CCDS14131.1																																																																																				0.321	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951	In_Frame_Del
SHROOM4	57477	hgsc.bcm.edu	37	X	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT	rs201922875|rs553160982		TCGA-AF-5654-01A-01D-1657-10	TCGA-AF-5654-10A-01D-1657-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	be6903cf-cfdc-4923-8991-da2544dce86c	d9a42723-5926-49f6-85ef-c25824c3d39c	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ|SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0			X								12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0.0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				50367499	SO:0001652	inframe_insertion	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup		50367498	A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	ENST00000289292.7	37	CCDS35277.1																																																																																				0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717	
