#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	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_dbSNPPopFreq	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
TAS1R3	83756	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	1269265	1269265	+	Silent	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:1269265G>A	ENST00000339381.5	+	6	2012	c.1980G>A	c.(1978-1980)gtG>gtA	p.V660V		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	660					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		AGATCTTCGTGGAGTCAGAAC	0.697																																					p.V660V													.	TAS1R3-22	0			c.G1980A						.						27.0	30.0	29.0					1																	1269265		2198	4296	6494	SO:0001819	synonymous_variant	83756	exon6			CTTCGTGGAGTCA	AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.1980G>A	1.37:g.1269265G>A		Somatic	43	0		WXS	Illumina HiSeq	Phase_I	32	9	NM_152228	0	0	0	0	0	Q5TA49|Q8NGW9	Silent	SNP	ENST00000339381.5	37	CCDS30556.1																																																																																			.		0.697	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008493.1		
EPHA8	2046	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	22902942	22902942	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:22902942G>A	ENST00000166244.3	+	3	464	c.392G>A	c.(391-393)cGc>cAc	p.R131H	EPHA8_ENST00000374644.4_Missense_Mutation_p.R131H|EPHA8_ENST00000538803.1_Missense_Mutation_p.R131H	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	131	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGTCGGACCGCGACCTGGGG	0.587																																					p.R131H													.	EPHA8-1380	0			c.G392A						.						66.0	61.0	63.0					1																	22902942		2203	4300	6503	SO:0001583	missense	2046	exon3			CGGACCGCGACCT	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.392G>A	1.37:g.22902942G>A	ENSP00000166244:p.Arg131His	Somatic	104	0		WXS	Illumina HiSeq	Phase_I	49	22	NM_020526	0	0	0	0	0	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	CCDS225.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.331358	0.41297	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;T;T	0.03580	3.88;3.88;3.88	4.29	4.29	0.51040	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.64402	D	0.000001	T	0.07052	0.0179	N	0.24115	0.695	0.48341	D	0.999635	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.966	T	0.52830	-0.8523	10	0.15952	T	0.53	.	9.2953	0.37811	0.1004:0.0:0.8996:0.0	.	131;131	P29322;P29322-2	EPHA8_HUMAN;.	H	131	ENSP00000166244:R131H;ENSP00000363775:R131H;ENSP00000440274:R131H	ENSP00000166244:R131H	R	+	2	0	EPHA8	22775529	0.994000	0.37717	0.994000	0.49952	0.981000	0.71138	2.605000	0.46283	2.212000	0.71576	0.442000	0.29010	CGC	.		0.587	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526	
KDM4A	9682	broad.mit.edu	37	1	44169937	44169937	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:44169937A>G	ENST00000372396.3	+	22	3225	c.3091A>G	c.(3091-3093)Aca>Gca	p.T1031A	KDM4A-AS1_ENST00000418149.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA|KDM4A-AS1_ENST00000434346.1_RNA	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	1031					cardiac muscle hypertrophy in response to stress (GO:0014898)|histone demethylation (GO:0016577)|histone H3-K36 demethylation (GO:0070544)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|methylated histone binding (GO:0035064)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						TGAGATTTTCACAGAGAAAGA	0.438																																					p.T1031A													.	KDM4A-227	0			c.A3091G						.						135.0	142.0	139.0					1																	44169937		2203	4300	6503	SO:0001583	missense	9682	exon22			ATTTTCACAGAGA	AB014577	CCDS491.1	1p34.1	2013-01-23	2009-04-06	2009-04-06	ENSG00000066135	ENSG00000066135		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	22978	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 3A"", ""tudor domain containing 14A"""	609764	"""jumonji domain containing 2"", ""jumonji domain containing 2A"""	JMJD2, JMJD2A		9734811, 15138608	Standard	XM_005271354		Approved	KIAA0677, JHDM3A, TDRD14A	uc001cjx.3	O75164	OTTHUMG00000007560	ENST00000372396.3:c.3091A>G	1.37:g.44169937A>G	ENSP00000361473:p.Thr1031Ala	Somatic	241	0		WXS	Illumina HiSeq	Phase_I	182	4	NM_014663	0	0	103	103	0	Q5VVB1	Missense_Mutation	SNP	ENST00000372396.3	37	CCDS491.1	.	.	.	.	.	.	.	.	.	.	A	9.454	1.091429	0.20471	.	.	ENSG00000066135	ENST00000372396	T	0.70749	-0.51	5.86	5.86	0.93980	.	0.200756	0.53938	D	0.000060	T	0.56232	0.1971	L	0.29908	0.895	0.35890	D	0.82957	B	0.09022	0.002	B	0.08055	0.003	T	0.58482	-0.7629	10	0.18710	T	0.47	-14.4805	10.8641	0.46844	0.9212:0.0:0.0788:0.0	.	1031	O75164	KDM4A_HUMAN	A	1031	ENSP00000361473:T1031A	ENSP00000361473:T1031A	T	+	1	0	KDM4A	43942524	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.878000	0.56130	2.232000	0.73038	0.533000	0.62120	ACA	.		0.438	KDM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019960.1	NM_014663	
SLC6A9	6536	broad.mit.edu	37	1	44467233	44467233	+	Silent	SNP	G	G	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:44467233G>C	ENST00000360584.2	-	9	1439	c.1248C>G	c.(1246-1248)tcC>tcG	p.S416S	SLC6A9_ENST00000537678.1_Silent_p.S278S|SLC6A9_ENST00000372310.3_Silent_p.S343S|SLC6A9_ENST00000475075.2_Silent_p.S232S|SLC6A9_ENST00000372307.3_Silent_p.S278S|SLC6A9_ENST00000357730.2_Silent_p.S362S|SLC6A9_ENST00000372306.3_Silent_p.S343S	NM_201649.3	NP_964012.2	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	416					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGCCGAGGATGGAGAAGATGA	0.597																																					p.S416S													.	SLC6A9-90	0			c.C1248G						.						169.0	160.0	163.0					1																	44467233		2203	4300	6503	SO:0001819	synonymous_variant	6536	exon9			GAGGATGGAGAAG	S70609	CCDS30695.1, CCDS41316.1, CCDS41317.1	1p33	2013-05-22			ENSG00000196517	ENSG00000196517		"""Solute carriers"""	11056	protein-coding gene	gene with protein product		601019				8183239, 7587377	Standard	NM_006934		Approved	GLYT1	uc001cll.4	P48067	OTTHUMG00000008294	ENST00000360584.2:c.1248C>G	1.37:g.44467233G>C		Somatic	218	0		WXS	Illumina HiSeq	Phase_I	115	4	NM_201649	0	0	7	7	0	A6NDH1|A6NII2|A6NNZ8|Q5TAB8|Q5TAB9|Q5TAC0	Silent	SNP	ENST00000360584.2	37	CCDS41317.1																																																																																			.		0.597	SLC6A9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000022825.2	NM_201649	
FGGY	55277	broad.mit.edu	37	1	59812021	59812021	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:59812021G>C	ENST00000303721.7	+	4	590	c.416G>C	c.(415-417)gGg>gCg	p.G139A	FGGY_ENST00000371218.4_Missense_Mutation_p.G139A|FGGY_ENST00000474476.1_3'UTR|FGGY_ENST00000371212.1_Intron	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	139					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TACGTCGGGGGGGTGATGTCT	0.502																																					p.G139A													.	FGGY-69	0			c.G416C						.						138.0	106.0	116.0					1																	59812021		2203	4300	6503	SO:0001583	missense	55277	exon4			TCGGGGGGGTGAT		CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.416G>C	1.37:g.59812021G>C	ENSP00000305922:p.Gly139Ala	Somatic	56	0		WXS	Illumina HiSeq	Phase_I	50	4	NM_001113411	0	0	53	53	0	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	CCDS611.2	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458181	0.63401	.	.	ENSG00000172456	ENST00000413489;ENST00000371218;ENST00000303721	T;T;T	0.58797	0.31;0.31;0.31	5.49	5.49	0.81192	Carbohydrate kinase, FGGY, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83519	0.5272	H	0.94658	3.565	0.80722	D	1	D;D;D	0.89917	1.0;0.993;0.997	D;D;D	0.97110	1.0;0.932;0.986	D	0.87429	0.2387	9	.	.	.	-16.3207	19.1799	0.93619	0.0:0.0:1.0:0.0	.	139;139;139	Q96C11-3;F2Z2V1;Q96C11	.;.;FGGY_HUMAN	A	139	ENSP00000406607:G139A;ENSP00000360262:G139A;ENSP00000305922:G139A	.	G	+	2	0	FGGY	59584609	1.000000	0.71417	0.591000	0.28745	0.122000	0.20287	8.580000	0.90784	2.857000	0.98124	0.650000	0.86243	GGG	.		0.502	FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411	
VANGL1	81839	ucsc.edu	37	1	116226588	116226588	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:116226588C>T	ENST00000355485.2	+	6	1241	c.970C>T	c.(970-972)Cag>Tag	p.Q324*	VANGL1_ENST00000310260.3_Nonsense_Mutation_p.Q324*|VANGL1_ENST00000369510.4_Nonsense_Mutation_p.Q322*|VANGL1_ENST00000474344.1_3'UTR|VANGL1_ENST00000369509.1_Nonsense_Mutation_p.Q324*	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	324					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)		TGCCACTGGCCAGTCCCGGGC	0.522																																					p.Q324X													.	VANGL1-226	0			c.C970T						.						59.0	60.0	60.0					1																	116226588		2203	4300	6503	SO:0001587	stop_gained	81839	exon6			ACTGGCCAGTCCC	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.970C>T	1.37:g.116226588C>T	ENSP00000347672:p.Gln324*	Somatic	129	0		WXS	Illumina HiSeq		53	5	NM_001172412	1	0	23	24	0	Q5T1D3|Q5T1D4|Q86WG8|Q8N559	Nonsense_Mutation	SNP	ENST00000355485.2	37	CCDS883.1	.	.	.	.	.	.	.	.	.	.	C	38	6.881575	0.97908	.	.	ENSG00000173218	ENST00000355485;ENST00000369510;ENST00000310260;ENST00000369509	.	.	.	4.76	4.76	0.60689	.	0.122019	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-2.7749	17.9983	0.89191	0.0:1.0:0.0:0.0	.	.	.	.	X	324;322;324;324	.	ENSP00000310800:Q324X	Q	+	1	0	VANGL1	116028111	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	7.313000	0.78978	2.474000	0.83562	0.551000	0.68910	CAG	.		0.522	VANGL1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033096.1		
PSMB4	5692	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	151372078	151372078	+	Silent	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:151372078G>A	ENST00000290541.6	+	1	69	c.15G>A	c.(13-15)ttG>ttA	p.L5L		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	5					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)|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 inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			AAGCGTTTTTGGGGTCGCGGT	0.542																																					p.L5L		.											.	PSMB4-92	0			c.G15A						.						56.0	61.0	59.0					1																	151372078		2202	4297	6499	SO:0001819	synonymous_variant	5692	exon1			GTTTTTGGGGTCG	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.15G>A	1.37:g.151372078G>A		Somatic	274	1		WXS	Illumina HiSeq	Phase_I	135	55	NM_002796	0	0	45	87	42	B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Silent	SNP	ENST00000290541.6	37	CCDS996.1																																																																																			.		0.542	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796	
RRNAD1	51093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	156705540	156705540	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:156705540G>A	ENST00000368216.4	+	7	1775	c.1145G>A	c.(1144-1146)cGa>cAa	p.R382Q	MRPL24_ENST00000478899.1_5'Flank|RRNAD1_ENST00000368218.4_Silent_p.A220A|RRNAD1_ENST00000476229.1_Silent_p.A97A	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	382						integral component of membrane (GO:0016021)	rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						GGGCTACAGCGAGTGGGGCTA	0.547																																					p.R382Q		.											.	RRNAD1-90	0			c.G1145A						.						78.0	71.0	74.0					1																	156705540		2203	4300	6503	SO:0001583	missense	51093	exon7			TACAGCGAGTGGG	BC011382	CCDS1154.1, CCDS44246.1	1q23.1	2011-01-28	2011-01-28	2011-01-28	ENSG00000143303	ENSG00000143303			24273	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 66"""	C1orf66		10810093, 310876	Standard	NM_015997		Approved	CGI-41	uc001fpu.3	Q96FB5	OTTHUMG00000041302	ENST00000368216.4:c.1145G>A	1.37:g.156705540G>A	ENSP00000357199:p.Arg382Gln	Somatic	145	2		WXS	Illumina HiSeq	Phase_I	76	37	NM_015997	0	0	19	25	6	D3DVC7|Q4VX71|Q5SZ03|Q9Y358	Missense_Mutation	SNP	ENST00000368216.4	37	CCDS1154.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.21|15.21	2.764513|2.764513	0.49574|0.49574	.|.	.|.	ENSG00000143303|ENSG00000143303	ENST00000522237|ENST00000368216	.|T	.|0.47177	.|0.85	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	.|0.069785	.|0.64402	.|D	.|0.000017	T|T	0.51381|0.51381	0.1671|0.1671	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|P	.|0.56865	.|0.808	T|T	0.55366|0.55366	-0.8152|-0.8152	4|9	.|0.59425	.|D	.|0.04	-14.6586|-14.6586	12.7396|12.7396	0.57243|0.57243	0.0:0.0:0.8351:0.1649|0.0:0.0:0.8351:0.1649	.|.	.|382	.|Q96FB5	.|RRNAD_HUMAN	K|Q	122|382	.|ENSP00000357199:R382Q	.|ENSP00000357199:R382Q	E|R	+|+	1|2	0|0	RRNAD1|RRNAD1	154972164|154972164	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.925000|0.925000	0.55904|0.55904	5.776000|5.776000	0.68924|0.68924	2.555000|2.555000	0.86185|0.86185	0.655000|0.655000	0.94253|0.94253	GAG|CGA	.		0.547	RRNAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098973.1	NM_015997	
INSRR	3645	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	156823725	156823725	+	Silent	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:156823725G>A	ENST00000368195.3	-	2	852	c.456C>T	c.(454-456)acC>acT	p.T152T	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	152					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCCAGTCAATGGTGGAGAGGT	0.642																																					p.T152T													.	INSRR-1403	0			c.C456T						.						62.0	55.0	57.0					1																	156823725		2203	4300	6503	SO:0001819	synonymous_variant	3645	exon2			GTCAATGGTGGAG	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.456C>T	1.37:g.156823725G>A		Somatic	42	0		WXS	Illumina HiSeq	Phase_I	17	5	NM_014215	0	0	0	0	0	O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	CCDS1160.1																																																																																			.		0.642	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
PLEKHA6	22874	broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	204226699	204226699	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:204226699C>T	ENST00000272203.3	-	9	1622	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.E456K	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	436										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCATCCAGCTCATCATAATAG	0.687																																					p.E436K													.	PLEKHA6-654	0			c.G1306A						.						13.0	15.0	14.0					1																	204226699		2193	4292	6485	SO:0001583	missense	22874	exon9			CCAGCTCATCATA	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.1306G>A	1.37:g.204226699C>T	ENSP00000272203:p.Glu436Lys	Somatic	25	0		WXS	Illumina HiSeq	Phase_I	20	12	NM_014935	0	0	15	26	11	A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142058	0.77775	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.10288	2.89;3.35	5.67	5.67	0.87782	.	0.095403	0.45606	D	0.000345	T	0.29850	0.0746	L	0.54323	1.7	0.80722	D	1	D;D	0.71674	0.998;0.982	D;D	0.76071	0.987;0.952	T	0.00156	-1.1978	10	0.27785	T	0.31	-32.9148	19.7263	0.96165	0.0:1.0:0.0:0.0	.	456;436	Q5VTI5;Q9Y2H5	.;PKHA6_HUMAN	K	436;456	ENSP00000272203:E436K;ENSP00000402046:E456K	ENSP00000272203:E436K	E	-	1	0	PLEKHA6	202493322	0.998000	0.40836	0.987000	0.45799	0.762000	0.43233	3.804000	0.55568	2.837000	0.97791	0.655000	0.94253	GAG	.		0.687	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935	
KCNH1	3756	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	211192165	211192165	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:211192165G>A	ENST00000271751.4	-	6	1019	c.992C>T	c.(991-993)gCt>gTt	p.A331V	KCNH1_ENST00000367007.4_Intron			O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	331					myoblast fusion (GO:0007520)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|phosphorelay sensor kinase activity (GO:0000155)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AATCTGATCAGCAAAACCAAT	0.448																																					p.A331V		.											.	KCNH1-94	0			c.C992T						.						184.0	165.0	171.0					1																	211192165		2203	4300	6503	SO:0001583	missense	3756	exon6			TGATCAGCAAAAC	AJ001366	CCDS1496.1, CCDS31015.1	1q32.2	2012-07-05			ENSG00000143473	ENSG00000143473		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6250	protein-coding gene	gene with protein product		603305				9738473, 16382104	Standard	NM_172362		Approved	Kv10.1, eag, h-eag, eag1	uc001hib.2	O95259	OTTHUMG00000036309	ENST00000271751.4:c.992C>T	1.37:g.211192165G>A	ENSP00000271751:p.Ala331Val	Somatic	229	1		WXS	Illumina HiSeq	Phase_I	171	59	NM_172362	0	0	0	0	0	B1AQ26|O76035|Q14CL3	Missense_Mutation	SNP	ENST00000271751.4	37	CCDS1496.1	.	.	.	.	.	.	.	.	.	.	g	9.957	1.221740	0.22457	.	.	ENSG00000143473	ENST00000271751	D	0.98835	-5.17	4.23	4.23	0.50019	Ion transport (1);	0.648179	0.14275	N	0.329938	D	0.93367	0.7885	N	0.03115	-0.41	0.80722	D	1	B	0.11235	0.004	B	0.14578	0.011	D	0.89761	0.3947	10	0.29301	T	0.29	.	8.1471	0.31119	0.1091:0.0:0.8908:0.0	.	331	O95259	KCNH1_HUMAN	V	331	ENSP00000271751:A331V	ENSP00000271751:A331V	A	-	2	0	KCNH1	209258788	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.765000	0.38481	2.349000	0.79799	0.558000	0.71614	GCT	.		0.448	KCNH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088332.1	NM_002238	
SPATA17	128153	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	217975148	217975148	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:217975148G>T	ENST00000366933.4	+	9	1016	c.961G>T	c.(961-963)Gaa>Taa	p.E321*	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	321						cytoplasm (GO:0005737)		p.E321Q(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TTCTTACAAAGAACAATTCCG	0.294																																					p.E321X		.											.	SPATA17-69	1	Substitution - Missense(1)	urinary_tract(1)	c.G961T						.						50.0	51.0	51.0					1																	217975148		2200	4289	6489	SO:0001587	stop_gained	128153	exon9			TACAAAGAACAAT	AK098591	CCDS1519.1	1q41	2008-02-05			ENSG00000162814	ENSG00000162814			25184	protein-coding gene	gene with protein product	"""IQ motif containing H"""	611032				16395525	Standard	NM_138796		Approved	IQCH	uc001hlh.1	Q96L03	OTTHUMG00000037875	ENST00000366933.4:c.961G>T	1.37:g.217975148G>T	ENSP00000355900:p.Glu321*	Somatic	48	0		WXS	Illumina HiSeq	Phase_I	62	28	NM_138796	0	0	2	5	3	A5D6N2	Nonsense_Mutation	SNP	ENST00000366933.4	37	CCDS1519.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596073	0.46318	.	.	ENSG00000162814	ENST00000366933	.	.	.	4.9	-9.8	0.00490	.	0.673920	0.13287	N	0.399280	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	5.0379	3.3861	0.07272	0.4661:0.3189:0.0955:0.1195	.	.	.	.	X	321	.	ENSP00000355900:E321X	E	+	1	0	SPATA17	216041771	0.011000	0.17503	0.000000	0.03702	0.106000	0.19336	0.664000	0.25068	-2.528000	0.00493	-0.253000	0.11424	GAA	.		0.294	SPATA17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092433.2	NM_138796	
OBSCN	84033	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	228494234	228494234	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:228494234G>A	ENST00000422127.1	+	44	11865	c.11821G>A	c.(11821-11823)Ggc>Agc	p.G3941S	OBSCN_ENST00000366709.4_Missense_Mutation_p.G1060S|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3941S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G1575S|OBSCN_ENST00000570156.2_Missense_Mutation_p.G4898S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3941	Ig-like 40.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGGCTTCAGGGCTGCACCGC	0.632																																					p.G4898S		.											.	OBSCN-403	0			c.G14692A						.						31.0	35.0	34.0					1																	228494234		1988	4166	6154	SO:0001583	missense	84033	exon55			CTTCAGGGCTGCA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11821G>A	1.37:g.228494234G>A	ENSP00000409493:p.Gly3941Ser	Somatic	99	0		WXS	Illumina HiSeq	Phase_I	61	30	NM_001271223	0	0	0	5	5	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	18.45	3.626354	0.66901	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.28	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.071555	0.53938	D	0.000043	D	0.85452	0.5700	M	0.89968	3.075	0.32886	D	0.511166	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.89300	0.3625	10	0.48119	T	0.1	.	18.9154	0.92503	0.0:0.0:1.0:0.0	.	3941;3941	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	3941;3941;1575;1060	ENSP00000284548:G3941S;ENSP00000409493:G3941S;ENSP00000355668:G1575S;ENSP00000355670:G1060S	ENSP00000284548:G3941S	G	+	1	0	OBSCN	226560857	1.000000	0.71417	0.595000	0.28798	0.119000	0.20118	7.341000	0.79300	2.488000	0.83962	0.462000	0.41574	GGC	.		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
ADAMTS14	140766	broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	72503320	72503320	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr10:72503320G>T	ENST00000373207.1	+	13	1941	c.1941G>T	c.(1939-1941)gaG>gaT	p.E647D	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.E650D	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	647	Cys-rich.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGAAGTGTGAGCTGATCTGCC	0.597																																					p.E650D													.	ADAMTS14-232	0			c.G1950T						.						81.0	70.0	74.0					10																	72503320		2203	4300	6503	SO:0001583	missense	140766	exon13			GTGTGAGCTGATC	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1941G>T	10.37:g.72503320G>T	ENSP00000362303:p.Glu647Asp	Somatic	93	0		WXS	Illumina HiSeq	Phase_I	47	15	NM_139155	0	0	0	2	2	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.318605	0.60524	.	.	ENSG00000138316	ENST00000373208;ENST00000373207	T;T	0.69685	-0.42;-0.42	5.2	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	L	0.52905	1.665	0.35321	D	0.784791	P;P;P	0.51449	0.936;0.885;0.945	P;P;P	0.49752	0.511;0.621;0.546	T	0.72478	-0.4281	10	0.39692	T	0.17	.	9.2922	0.37793	0.2257:0.0:0.7743:0.0	.	580;647;650	Q8WXS8-2;Q8WXS8;Q5T4G1	.;ATS14_HUMAN;.	D	650;647	ENSP00000362304:E650D;ENSP00000362303:E647D	ENSP00000362303:E647D	E	+	3	2	ADAMTS14	72173326	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.838000	0.55828	1.421000	0.47157	0.655000	0.94253	GAG	.		0.597	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
CPEB3	22849	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	93812079	93812079	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr10:93812079A>G	ENST00000265997.4	-	10	2159	c.1987T>C	c.(1987-1989)Tgt>Cgt	p.C663R	CPEB3_ENST00000412050.4_Missense_Mutation_p.C649R	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	663					3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				CAGTATTCACAGTAATACTGC	0.592																																					p.C663R		.											.	CPEB3-90	0			c.T1987C						.						101.0	86.0	91.0					10																	93812079		2203	4300	6503	SO:0001583	missense	22849	exon10			ATTCACAGTAATA	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1987T>C	10.37:g.93812079A>G	ENSP00000265997:p.Cys663Arg	Somatic	86	0		WXS	Illumina HiSeq	Phase_I	45	19	NM_014912	0	0	10	20	10	Q5T389|Q9NQJ7|Q9Y2E9	Missense_Mutation	SNP	ENST00000265997.4	37	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	A	16.70	3.195744	0.58126	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	T;T	0.25414	1.8;1.8	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.89214	3.015	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.997	D;D;D	0.91635	0.999;0.986;0.994	T	0.67469	-0.5663	10	0.87932	D	0	-10.7449	15.5925	0.76543	1.0:0.0:0.0:0.0	.	663;649;649	Q8NE35;Q5QP71;Q8NE35-2	CPEB3_HUMAN;.;.	R	649;649;663	ENSP00000398310:C649R;ENSP00000265997:C663R	ENSP00000265997:C663R	C	-	1	0	CPEB3	93802059	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.339000	0.96797	2.094000	0.63399	0.482000	0.46254	TGT	.		0.592	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912	
KNDC1	85442	broad.mit.edu	37	10	135012252	135012252	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr10:135012252G>C	ENST00000304613.3	+	14	2261	c.2240G>C	c.(2239-2241)gGg>gCg	p.G747A	KNDC1_ENST00000368572.2_Missense_Mutation_p.G747A|KNDC1_ENST00000368571.2_Missense_Mutation_p.G682A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	747	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAGCCTCTTGGGGCGTCAGTG	0.726																																					p.G747A													.	KNDC1-229	0			c.G2240C						.						6.0	9.0	8.0					10																	135012252		2105	4171	6276	SO:0001583	missense	85442	exon14			CTCTTGGGGCGTC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2240G>C	10.37:g.135012252G>C	ENSP00000304437:p.Gly747Ala	Somatic	13	0		WXS	Illumina HiSeq	Phase_I	5	3	NM_152643	0	0	2	8	6	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	8.015	0.758350	0.15846	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.18174	2.75;2.75;2.23	3.6	0.496	0.16896	.	2.237860	0.02114	U	0.055037	T	0.15305	0.0369	L	0.46157	1.445	0.09310	N	1	P;B;B	0.41450	0.75;0.206;0.131	B;B;B	0.39562	0.303;0.086;0.026	T	0.18209	-1.0344	10	0.15952	T	0.53	-0.5875	4.1268	0.10131	0.2365:0.1947:0.5687:0.0	.	747;682;747	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	A	747;747;682	ENSP00000304437:G747A;ENSP00000357561:G747A;ENSP00000357560:G682A	ENSP00000304437:G747A	G	+	2	0	KNDC1	134862242	0.002000	0.14202	0.000000	0.03702	0.016000	0.09150	0.679000	0.25291	-0.015000	0.14150	0.306000	0.20318	GGG	.		0.726	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
SMPD1	6609	hgsc.bcm.edu	37	11	6411953	6411953	+	Missense_Mutation	SNP	C	C	G	rs550067660|rs200577287	byFrequency	TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr11:6411953C>G	ENST00000342245.4	+	1	293	c.125C>G	c.(124-126)gCg>gGg	p.A42G	SMPD1_ENST00000533196.1_3'UTR|SMPD1_ENST00000527275.1_Missense_Mutation_p.A42G|SMPD1_ENST00000299397.3_Missense_Mutation_p.A42G|SMPD1_ENST00000356761.2_Missense_Mutation_p.A42G	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	42					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	ctggcgctggcgctggcgctg	0.701																																					p.A42G		.											.	SMPD1-90	0			c.C125G						.						15.0	20.0	18.0					11																	6411953		2196	4291	6487	SO:0001583	missense	6609	exon1			CGCTGGCGCTGGC	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.125C>G	11.37:g.6411953C>G	ENSP00000340409:p.Ala42Gly	Somatic	31	2		WXS	Illumina HiSeq	Phase_I	27	2	NM_000543	0	0	0	0	0	A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	c	5.495	0.276322	0.10403	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.10668	2.85;2.85;2.86;2.86	4.83	1.04	0.20106	.	.	.	.	.	T	0.04452	0.0122	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46721	-0.9171	9	0.11182	T	0.66	-29.9727	6.4547	0.21924	0.0:0.6933:0.1662:0.1405	.	42;42;40	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	G	42	ENSP00000299397:A42G;ENSP00000349203:A42G;ENSP00000340409:A42G;ENSP00000435350:A42G	ENSP00000299397:A42G	A	+	2	0	SMPD1	6368529	0.017000	0.18338	0.014000	0.15608	0.042000	0.13812	-0.478000	0.06575	0.322000	0.23283	0.563000	0.77884	GCG	.		0.701	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543	
HARBI1	283254	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	46637368	46637368	+	Silent	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr11:46637368C>A	ENST00000326737.3	-	2	667	c.420G>T	c.(418-420)ggG>ggT	p.G140G	ATG13_ENST00000359513.4_5'Flank|ATG13_ENST00000529655.1_5'Flank|ATG13_ENST00000524625.1_5'Flank|ATG13_ENST00000528494.1_5'Flank|ATG13_ENST00000312040.4_5'Flank|ATG13_ENST00000451945.1_5'Flank|ATG13_ENST00000530500.1_5'Flank|ATG13_ENST00000434074.1_5'Flank|ATG13_ENST00000526508.1_5'Flank	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	140						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCCCTGGCATCCCTGCCAACC	0.512																																					p.G140G		.											.	HARBI1-90	0			c.G420T						.						201.0	196.0	198.0					11																	46637368		2201	4299	6500	SO:0001819	synonymous_variant	283254	exon2			TGGCATCCCTGCC	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.420G>T	11.37:g.46637368C>A		Somatic	417	0		WXS	Illumina HiSeq	Phase_I	226	84	NM_173811	0	0	0	2	2	D3DQP9	Silent	SNP	ENST00000326737.3	37	CCDS7920.1																																																																																			.		0.512	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811	
PPP6R3	55291	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	68377390	68377390	+	Silent	SNP	T	T	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr11:68377390T>A	ENST00000393800.2	+	23	2723	c.2469T>A	c.(2467-2469)tcT>tcA	p.S823S	PPP6R3_ENST00000534534.1_Silent_p.S591S|PPP6R3_ENST00000265636.5_Silent_p.S743S|PPP6R3_ENST00000265637.4_Silent_p.S777S|PPP6R3_ENST00000393799.2_Silent_p.S829S|PPP6R3_ENST00000393801.3_Silent_p.S829S|PPP6R3_ENST00000527403.2_Silent_p.S788S|PPP6R3_ENST00000529710.1_Silent_p.S743S|PPP6R3_ENST00000524904.1_Silent_p.S817S|PPP6R3_ENST00000524845.1_Silent_p.S794S	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	823					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GGAAACTGTCTACCTCTCAAG	0.577																																					p.S829S		.											.	PPP6R3-91	0			c.T2487A						.						174.0	149.0	157.0					11																	68377390		2200	4294	6494	SO:0001819	synonymous_variant	55291	exon24			ACTGTCTACCTCT	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.2469T>A	11.37:g.68377390T>A		Somatic	205	0		WXS	Illumina HiSeq	Phase_I	124	54	NM_001164160	0	0	43	81	38	Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Silent	SNP	ENST00000393800.2	37	CCDS53672.1																																																																																			.		0.577	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312	
MMP3	4314	ucsc.edu;bcgsc.ca	37	11	102713447	102713447	+	Silent	SNP	G	G	T	rs41380244	byFrequency	TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr11:102713447G>T	ENST00000299855.5	-	2	562	c.306C>A	c.(304-306)acC>acA	p.T102T		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	102					cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|positive regulation of oxidative stress-induced cell death (GO:1903209)|proteolysis (GO:0006508)|regulation of cell migration (GO:0030334)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)	TGCCAGGAAAGGTTCTGAAGT	0.478																																					p.T102T													.	MMP3-226	0			c.C306A						.						72.0	66.0	68.0					11																	102713447		2203	4299	6502	SO:0001819	synonymous_variant	4314	exon2			AGGAAAGGTTCTG	X05232	CCDS8323.1	11q22.3	2012-10-02	2005-08-08		ENSG00000149968	ENSG00000149968	3.4.24.17		7173	protein-coding gene	gene with protein product		185250	"""matrix metalloproteinase 3 (stromelysin 1, progelatinase)"""	STMY1, STMY			Standard	NM_002422		Approved		uc001phj.1	P08254	OTTHUMG00000048254	ENST00000299855.5:c.306C>A	11.37:g.102713447G>T		Somatic	75	0		WXS	Illumina HiSeq		35	19	NM_002422	0	0	0	0	0	B2R8B8|Q3B7S0|Q6GRF8	Silent	SNP	ENST00000299855.5	37	CCDS8323.1																																																																																			G|0.673;C|0.327		0.478	MMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109758.2	NM_002422	
ANKK1	255239	hgsc.bcm.edu;broad.mit.edu	37	11	113270078	113270078	+	Missense_Mutation	SNP	A	A	G	rs370088482		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr11:113270078A>G	ENST00000303941.3	+	8	1481	c.1387A>G	c.(1387-1389)Acc>Gcc	p.T463A		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	463							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TGAAGGGTGGACCCCTCTTCA	0.622																																					p.T463A		.											.	ANKK1-628	0			c.A1387G						.						18.0	22.0	21.0					11																	113270078		2092	4222	6314	SO:0001583	missense	255239	exon8			GGGTGGACCCCTC	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1387A>G	11.37:g.113270078A>G	ENSP00000306678:p.Thr463Ala	Somatic	15	0		WXS	Illumina HiSeq	Phase_I	9	3	NM_178510	0	0	0	0	0		Missense_Mutation	SNP	ENST00000303941.3	37	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	A	12.33	1.906789	0.33628	.	.	ENSG00000170209	ENST00000303941	T	0.74737	-0.87	4.83	1.03	0.20045	Ankyrin repeat-containing domain (4);	0.096889	0.43579	D	0.000551	D	0.84419	0.5468	M	0.90252	3.1	0.39435	D	0.967155	D	0.76494	0.999	D	0.74348	0.983	T	0.81106	-0.1083	10	0.62326	D	0.03	-34.3557	4.9666	0.14094	0.637:0.0:0.079:0.284	.	463	Q8NFD2	ANKK1_HUMAN	A	463	ENSP00000306678:T463A	ENSP00000306678:T463A	T	+	1	0	ANKK1	112775288	1.000000	0.71417	0.917000	0.36280	0.059000	0.15707	2.408000	0.44574	0.005000	0.14708	0.455000	0.32223	ACC	.		0.622	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510	
PEX5	5830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	7343122	7343122	+	Splice_Site	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:7343122T>C	ENST00000455147.2	+	3	727		c.e3+2		PEX5_ENST00000545220.1_Intron|RP11-273B20.3_ENST00000545794.1_RNA|PEX5_ENST00000266564.3_Splice_Site|PEX5_ENST00000412720.2_Splice_Site|PEX5_ENST00000266563.5_Splice_Site|RP11-273B20.3_ENST00000543061.1_RNA|PEX5_ENST00000420616.2_Splice_Site|PEX5_ENST00000434354.2_Missense_Mutation_p.V50A	NM_001131026.1	NP_001124498.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5						cell development (GO:0048468)|cerebral cortex cell migration (GO:0021795)|cerebral cortex neuron differentiation (GO:0021895)|endoplasmic reticulum organization (GO:0007029)|fatty acid beta-oxidation (GO:0006635)|mitochondrial membrane organization (GO:0007006)|negative regulation of protein homotetramerization (GO:1901094)|neuromuscular process (GO:0050905)|neuron migration (GO:0001764)|positive regulation of multicellular organism growth (GO:0040018)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|protein import into peroxisome matrix, translocation (GO:0016561)|protein import into peroxisome membrane (GO:0045046)|protein targeting to peroxisome (GO:0006625)|protein tetramerization (GO:0051262)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|small GTPase binding (GO:0031267)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						TCTGAGGCAGTGAGTGTTCTT	0.632																																					p.V50A		.											.	PEX5-91	0			c.T149C						.						24.0	27.0	26.0					12																	7343122		2200	4294	6494	SO:0001630	splice_region_variant	5830	exon2			AGGCAGTGAGTGT	U19721	CCDS8576.1, CCDS44822.1, CCDS44823.1, CCDS44824.1, CCDS73433.1	12p	2013-01-10	2004-03-17	2004-03-19		ENSG00000139197		"""Tetratricopeptide (TTC) repeat domain containing"""	9719	protein-coding gene	gene with protein product		600414	"""peroxisome receptor 1"""	PXR1			Standard	NM_000319		Approved	PTS1R	uc010sgc.2	P50542		ENST00000455147.2:c.147+2T>C	12.37:g.7343122T>C		Somatic	22	0		WXS	Illumina HiSeq	Phase_I	21	11	NM_001131023	0	0	2	79	77	A8K891|B4DZ45|B7ZAD5|D3DUT8|Q15115|Q15266|Q96FN7	Missense_Mutation	SNP	ENST00000455147.2	37	CCDS44823.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.99|17.99	3.522704|3.522704	0.64747|0.64747	.|.	.|.	ENSG00000139197|ENSG00000139197	ENST00000542539;ENST00000455147;ENST00000540398;ENST00000266563;ENST00000544456;ENST00000545574;ENST00000420616;ENST00000412720;ENST00000536841;ENST00000537873;ENST00000266564|ENST00000434354;ENST00000396637	.|D;D	.|0.88046	.|-2.33;-2.09	3.59|3.59	3.59|3.59	0.41128|0.41128	.|.	.|.	.|.	.|.	.|.	.|D	.|0.90950	.|0.7155	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.43392	.|0.805	.|P	.|0.59424	.|0.857	.|D	.|0.89996	.|0.4111	.|7	.|.	.|.	.|.	.|.	10.9229|10.9229	0.47176|0.47176	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|50	.|B4DZ45	.|.	.|A	-1|50	.|ENSP00000407401:V50A;ENSP00000379877:V50A	.|.	.|V	+|+	.|2	.|0	PEX5|PEX5	7234389|7234389	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.526000|0.526000	0.34562|0.34562	2.840000|2.840000	0.48215|0.48215	1.654000|1.654000	0.50703|0.50703	0.342000|0.342000	0.21767|0.21767	.|GTG	.		0.632	PEX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398611.1	NM_000319	Intron
GSG1	83445	broad.mit.edu;bcgsc.ca	37	12	13243503	13243503	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:13243503G>A	ENST00000432710.2	-	2	430	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	GSG1_ENST00000537302.1_Missense_Mutation_p.R87W|GSG1_ENST00000324458.8_Missense_Mutation_p.R100W|GSG1_ENST00000351606.6_Missense_Mutation_p.R100W|GSG1_ENST00000396310.2_Missense_Mutation_p.R84W|GSG1_ENST00000337630.6_Missense_Mutation_p.R87W|GSG1_ENST00000457134.2_Missense_Mutation_p.R87W|GSG1_ENST00000396302.3_Missense_Mutation_p.R87W	NM_001206842.1	NP_001193771.1	Q2KHT4	GSG1_HUMAN	germ cell associated 1	87						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AAGGAGAACCGGTCATCCCCA	0.542																																					p.R100W													.	GSG1-90	0			c.C298T						.						108.0	98.0	101.0					12																	13243503		2203	4300	6503	SO:0001583	missense	83445	exon2			AGAACCGGTCATC	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000432710.2:c.298C>T	12.37:g.13243503G>A	ENSP00000405032:p.Arg100Trp	Somatic	208	0		WXS	Illumina HiSeq	Phase_I	147	9	NM_001080554	0	0	0	0	0	Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000432710.2	37	CCDS55808.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700492	0.68501	.	.	ENSG00000111305	ENST00000337630;ENST00000324458;ENST00000396310;ENST00000396302;ENST00000457134;ENST00000432710;ENST00000537302;ENST00000351606;ENST00000405543;ENST00000545401;ENST00000542415;ENST00000545699	T;T;T;T;T;T;T;T;T;T;T	0.38401	1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14;1.14	5.55	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	M	0.83603	2.65	0.39184	D	0.96283	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;1.0;0.999;1.0;1.0;1.0	T	0.66524	-0.5902	10	0.87932	D	0	.	9.1927	0.37209	0.0731:0.0:0.7819:0.145	.	100;100;100;87;87;87;87;87	Q2KHT4-7;Q2KHT4-6;G3XAB9;Q2KHT4;Q2KHT4-5;Q2KHT4-2;F1T0A0;F1T0A1	.;.;.;GSG1_HUMAN;.;.;.;.	W	87;100;84;87;87;100;87;100;84;100;100;87	ENSP00000336816:R87W;ENSP00000320838:R100W;ENSP00000379604:R84W;ENSP00000379596:R87W;ENSP00000398384:R87W;ENSP00000405032:R100W;ENSP00000441718:R87W;ENSP00000336857:R100W;ENSP00000445884:R100W;ENSP00000439676:R100W;ENSP00000440684:R87W	ENSP00000320838:R100W	R	-	1	2	GSG1	13134770	1.000000	0.71417	0.995000	0.50966	0.895000	0.52256	2.105000	0.41825	1.342000	0.45619	0.561000	0.74099	CGG	.		0.542	GSG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316546.1	NM_031289	
IPO8	10526	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	30790088	30790088	+	Silent	SNP	C	C	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:30790088C>G	ENST00000256079.4	-	22	2861	c.2523G>C	c.(2521-2523)ctG>ctC	p.L841L	IPO8_ENST00000544829.1_Silent_p.L636L	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	841					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAAGGATACTCAGTCCTATTA	0.393																																					p.L841L		.											.	IPO8-227	0			c.G2523C						.						133.0	120.0	124.0					12																	30790088		2203	4300	6503	SO:0001819	synonymous_variant	10526	exon22			GATACTCAGTCCT	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2523G>C	12.37:g.30790088C>G		Somatic	93	0		WXS	Illumina HiSeq	Phase_I	126	78	NM_006390	1	0	44	114	69	B7Z7M3	Silent	SNP	ENST00000256079.4	37	CCDS8719.1																																																																																			.		0.393	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390	
FAM60A	58516	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	31435663	31435663	+	Missense_Mutation	SNP	A	A	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:31435663A>C	ENST00000337682.4	-	6	1017	c.649T>G	c.(649-651)Tcc>Gcc	p.S217A	FAM60A_ENST00000539409.1_Missense_Mutation_p.S69A|FAM60A_ENST00000542983.1_Missense_Mutation_p.S69A|FAM60A_ENST00000395766.1_Missense_Mutation_p.S69A|FAM60A_ENST00000454658.2_Missense_Mutation_p.S217A	NM_001135812.1	NP_001129284.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A	217					negative regulation of cell migration (GO:0030336)	Sin3 complex (GO:0016580)				large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					TCCTGAGTGGAGATGGGCAGA	0.453																																					p.S217A		.											.	FAM60A-90	0			c.T649G						.						38.0	40.0	39.0					12																	31435663		2203	4297	6500	SO:0001583	missense	58516	exon7			GAGTGGAGATGGG	AF212220	CCDS8723.1	12p11.21	2012-11-30	2005-04-07	2005-04-07	ENSG00000139146	ENSG00000139146			30702	protein-coding gene	gene with protein product		615027	"""chromosome 12 open reading frame 14"""	C12orf14		11042152, 22984288, 22865885	Standard	NM_021238		Approved	TERA	uc001rke.3	Q9NP50	OTTHUMG00000168586	ENST00000337682.4:c.649T>G	12.37:g.31435663A>C	ENSP00000337477:p.Ser217Ala	Somatic	112	0		WXS	Illumina HiSeq	Phase_I	94	51	NM_021238	0	0	43	140	97	D3DUV8|Q9BSZ8	Missense_Mutation	SNP	ENST00000337682.4	37	CCDS8723.1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.262656	0.23051	.	.	ENSG00000139146	ENST00000539409;ENST00000337682;ENST00000454658;ENST00000398170;ENST00000395766;ENST00000542983	T;T	0.41758	0.99;0.99	4.26	0.167	0.15006	.	0.592620	0.16969	N	0.192195	T	0.17704	0.0425	N	0.08118	0	0.29822	N	0.830762	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18272	-1.0342	10	0.20519	T	0.43	-15.4818	5.7799	0.18299	0.5453:0.3628:0.0919:0.0	.	217;258	Q9NP50;B7Z287	FA60A_HUMAN;.	A	69;217;217;258;69;69	ENSP00000337477:S217A;ENSP00000393279:S217A	ENSP00000337477:S217A	S	-	1	0	FAM60A	31326930	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	0.828000	0.27435	0.078000	0.16900	0.482000	0.46254	TCC	.		0.453	FAM60A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400347.1	NM_021238	
FMNL3	91010	broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	50041978	50041978	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:50041978C>T	ENST00000293590.5	-	22	2907	c.2674G>A	c.(2674-2676)Gag>Aag	p.E892K	FMNL3_ENST00000352151.5_Missense_Mutation_p.E841K|FMNL3_ENST00000335154.5_Missense_Mutation_p.E892K|FMNL3_ENST00000550488.1_Missense_Mutation_p.E892K			Q8IVF7	FMNL3_HUMAN	formin-like 3	892	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GTGCTTGCCTCAGCCGTCTTG	0.552																																					p.E892K													.	FMNL3-228	0			c.G2674A						.						80.0	83.0	82.0					12																	50041978		2073	4196	6269	SO:0001583	missense	91010	exon22			TTGCCTCAGCCGT	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.2674G>A	12.37:g.50041978C>T	ENSP00000293590:p.Glu892Lys	Somatic	127	0		WXS	Illumina HiSeq	Phase_I	97	18	NM_175736	0	0	0	0	0	B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37		.	.	.	.	.	.	.	.	.	.	C	20.4	3.989748	0.74589	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	T;T;T;T	0.17213	2.39;2.29;2.39;2.39	4.78	3.86	0.44501	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.09905	0.0243	N	0.11364	0.135	0.53005	D	0.999965	B;B;B	0.26445	0.094;0.143;0.149	B;B;B	0.30943	0.122;0.081;0.099	T	0.15206	-1.0445	10	0.12103	T	0.63	.	14.1676	0.65488	0.0:0.8485:0.1515:0.0	.	841;892;892	Q8IVF7-2;Q8IVF7-3;Q8IVF7	.;.;FMNL3_HUMAN	K	892;892;841;892	ENSP00000335655:E892K;ENSP00000447479:E892K;ENSP00000344311:E841K;ENSP00000293590:E892K	ENSP00000293590:E892K	E	-	1	0	FMNL3	48328245	0.637000	0.27216	0.843000	0.33291	0.197000	0.23852	1.072000	0.30678	1.330000	0.45394	0.650000	0.86243	GAG	.		0.552	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736	
KRT83	3889	broad.mit.edu;ucsc.edu	37	12	52708468	52708468	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:52708468C>T	ENST00000293670.3	-	9	1491	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	AC121757.1_ENST00000594763.1_5'Flank	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	477	Tail.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCAGCTGGCCACAGGGCTTG	0.667																																					p.G477S	GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)												.	KRT83-91	0			c.G1429A						.						27.0	22.0	24.0					12																	52708468		2199	4296	6495	SO:0001583	missense	3889	exon9			GCTGGCCACAGGG	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.1429G>A	12.37:g.52708468C>T	ENSP00000293670:p.Gly477Ser	Somatic	17	0		WXS	Illumina HiSeq	Phase_I	14	5	NM_002282	0	0	0	0	0	A1A4S9|B2RC21|Q6NT21|Q9NSB3	Missense_Mutation	SNP	ENST00000293670.3	37	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	C	11.39	1.623230	0.28889	.	.	ENSG00000170523	ENST00000293670	D	0.86497	-2.13	2.96	2.02	0.26589	.	0.231155	0.21686	U	0.070656	T	0.75975	0.3923	N	0.22421	0.69	0.27127	N	0.96199	B	0.10296	0.003	B	0.10450	0.005	T	0.64550	-0.6381	10	0.45353	T	0.12	.	7.2268	0.26020	0.2659:0.7341:0.0:0.0	.	477	P78385	KRT83_HUMAN	S	477	ENSP00000293670:G477S	ENSP00000293670:G477S	G	-	1	0	KRT83	50994735	0.328000	0.24687	0.973000	0.42090	0.064000	0.16182	-0.181000	0.09740	0.319000	0.23209	0.313000	0.20887	GGC	.		0.667	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282	
HSP90B1	7184	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	104336447	104336447	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:104336447T>C	ENST00000299767.5	+	12	1699	c.1517T>C	c.(1516-1518)cTt>cCt	p.L506P		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	506					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CGAACACGTCTTGCTAAACTT	0.373																																					p.L506P		.											.	HSP90B1-93	0			c.T1517C						.						116.0	113.0	114.0					12																	104336447		2203	4300	6503	SO:0001583	missense	7184	exon12			CACGTCTTGCTAA	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.1517T>C	12.37:g.104336447T>C	ENSP00000299767:p.Leu506Pro	Somatic	115	0		WXS	Illumina HiSeq	Phase_I	159	94	NM_003299	0	0	1355	4615	3260	Q96A97	Missense_Mutation	SNP	ENST00000299767.5	37	CCDS9094.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.696033	0.88830	.	.	ENSG00000166598	ENST00000299767;ENST00000421266	T	0.18016	2.24	6.16	6.16	0.99307	Ribosomal protein S5 domain 2-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	H	0.98701	4.305	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79080	-0.1950	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	506	P14625	ENPL_HUMAN	P	506;256	ENSP00000299767:L506P	ENSP00000299767:L506P	L	+	2	0	HSP90B1	102860577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	CTT	.		0.373	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299	
MYO1H	283446	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	109834250	109834250	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:109834250C>T	ENST00000431443.2	+	3	304	c.304C>T	c.(304-306)Ctc>Ttc	p.L102F	MYO1H_ENST00000310903.5_Missense_Mutation_p.L102F	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	102	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCATTTCATCCTCATTTCTGG	0.458																																					p.L102F		.											.	.	0			c.C304T						.						68.0	68.0	68.0					12																	109834250		1957	4152	6109	SO:0001583	missense	283446	exon3			TTCATCCTCATTT		CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.304C>T	12.37:g.109834250C>T	ENSP00000444076:p.Leu102Phe	Somatic	61	0		WXS	Illumina HiSeq	Phase_I	88	46	NM_001101421	0	0	0	0	0	F5H3C6	Missense_Mutation	SNP	ENST00000431443.2	37		.	.	.	.	.	.	.	.	.	.	C	23.2	4.392377	0.83011	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.89875	-2.58;-2.58	4.8	4.8	0.61643	.	.	.	.	.	D	0.96914	0.8992	H	0.98370	4.215	0.46981	D	0.999273	D	0.89917	1.0	D	0.91635	0.999	D	0.98431	1.0582	9	0.87932	D	0	.	17.7816	0.88526	0.0:1.0:0.0:0.0	.	102	F5H3C6	.	F	102	ENSP00000439182:L102F;ENSP00000444076:L102F	ENSP00000439182:L102F	L	+	1	0	MYO1H	108318633	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.258000	0.51507	2.615000	0.88500	0.644000	0.83932	CTC	.		0.458	MYO1H-201	KNOWN	basic	protein_coding	protein_coding		NM_173597	
NCOR2	9612	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	124848291	124848291	+	Silent	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:124848291A>G	ENST00000405201.1	-	21	2862	c.2862T>C	c.(2860-2862)aaT>aaC	p.N954N	NCOR2_ENST00000404621.1_Silent_p.N936N|NCOR2_ENST00000397355.1_Silent_p.N937N|NCOR2_ENST00000429285.2_Silent_p.N936N|NCOR2_ENST00000356219.3_Silent_p.N954N|NCOR2_ENST00000404121.2_Silent_p.N507N			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	954					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)		GGGGTGAGGCATTGGCCCGGG	0.697																																					p.N954N		.											.	NCOR2-229	0			c.T2862C						.						39.0	56.0	51.0					12																	124848291		2023	4151	6174	SO:0001819	synonymous_variant	9612	exon23			TGAGGCATTGGCC	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.2862T>C	12.37:g.124848291A>G		Somatic	190	0		WXS	Illumina HiSeq	Phase_I	145	77	NM_006312	0	1	31	81	49	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	ENST00000405201.1	37	CCDS41858.2																																																																																			.		0.697	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
KBTBD6	89890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	41704906	41704906	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr13:41704906T>C	ENST00000379485.1	-	1	1976	c.1742A>G	c.(1741-1743)aAc>aGc	p.N581S	KBTBD6_ENST00000499385.2_Missense_Mutation_p.N515S	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	581										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AGTCACCCGGTTCTTTTTCCA	0.408																																					p.N581S		.											.	KBTBD6-92	0			c.A1742G						.						179.0	179.0	179.0					13																	41704906		2203	4300	6503	SO:0001583	missense	89890	exon1			ACCCGGTTCTTTT	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1742A>G	13.37:g.41704906T>C	ENSP00000368799:p.Asn581Ser	Somatic	230	0		WXS	Illumina HiSeq	Phase_I	257	154	NM_152903	0	0	5	14	9	Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	t	14.19	2.460466	0.43736	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.66995	-0.24;-0.24	3.8	2.62	0.31277	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.67804	0.2932	L	0.32530	0.975	0.31105	N	0.710602	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.994	T	0.65092	-0.6252	10	0.36615	T	0.2	.	6.7322	0.23388	0.0:0.1222:0.0:0.8778	.	515;581	F5GZN7;Q86V97	.;KBTB6_HUMAN	S	581;515	ENSP00000368799:N581S;ENSP00000444326:N515S	ENSP00000368799:N581S	N	-	2	0	KBTBD6	40602906	1.000000	0.71417	0.500000	0.27589	0.968000	0.65278	3.578000	0.53892	0.649000	0.30751	0.379000	0.24179	AAC	.		0.408	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903	
NALCN	259232	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	13	101944368	101944368	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr13:101944368G>T	ENST00000251127.6	-	9	1101	c.1020C>A	c.(1018-1020)agC>agA	p.S340R	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.S340R	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	340					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGTAGTGCTGCTTCTCGATC	0.438																																					p.S340R		.											.	NALCN-167	0			c.C1020A						.						317.0	247.0	271.0					13																	101944368		2203	4300	6503	SO:0001583	missense	259232	exon9			AGTGCTGCTTCTC	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.1020C>A	13.37:g.101944368G>T	ENSP00000251127:p.Ser340Arg	Somatic	69	0		WXS	Illumina HiSeq	Phase_I	52	33	NM_052867	0	0	0	0	0	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.936423	0.34189	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98362	-4.55;-4.89	6.16	4.42	0.53409	.	0.000000	0.85682	D	0.000000	D	0.92808	0.7713	N	0.08118	0	0.80722	D	1	B;B;B	0.22851	0.008;0.076;0.008	B;B;B	0.15870	0.006;0.014;0.006	D	0.89936	0.4069	10	0.23891	T	0.37	.	10.2255	0.43222	0.2563:0.0:0.7437:0.0	.	340;340;340	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	R	340	ENSP00000251127:S340R;ENSP00000365367:S340R	ENSP00000251127:S340R	S	-	3	2	NALCN	100742369	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	3.963000	0.56773	1.616000	0.50265	0.650000	0.86243	AGC	.		0.438	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
SIPA1L1	26037	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	72055716	72055716	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr14:72055716T>C	ENST00000555818.1	+	2	1475	c.1127T>C	c.(1126-1128)cTg>cCg	p.L376P	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.L376P|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.L376P	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	376					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCTGGACCTCTGTCTCATTCA	0.498																																					p.L376P		.											.	SIPA1L1-156	0			c.T1127C						.						59.0	61.0	60.0					14																	72055716		2203	4300	6503	SO:0001583	missense	26037	exon2			GACCTCTGTCTCA	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1127T>C	14.37:g.72055716T>C	ENSP00000450832:p.Leu376Pro	Somatic	111	0		WXS	Illumina HiSeq	Phase_I	68	25	NM_015556	0	0	44	74	30	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	T	7.254	0.603889	0.14002	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.78003	-1.14;-1.13;-1.14	6.07	4.94	0.65067	.	0.129948	0.56097	D	0.000037	T	0.55033	0.1895	N	0.03608	-0.345	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.08055	0.001;0.003;0.001	T	0.53287	-0.8460	10	0.30078	T	0.28	-17.1009	11.6847	0.51479	0.0:0.0683:0.0:0.9317	.	376;376;376	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	P	376	ENSP00000370630:L376P;ENSP00000450832:L376P;ENSP00000351352:L376P	ENSP00000351352:L376P	L	+	2	0	SIPA1L1	71125469	1.000000	0.71417	0.996000	0.52242	0.343000	0.28985	4.668000	0.61568	2.326000	0.78906	0.533000	0.62120	CTG	.		0.498	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
SIPA1L1	26037	broad.mit.edu;ucsc.edu;bcgsc.ca	37	14	72055734	72055734	+	Missense_Mutation	SNP	T	T	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr14:72055734T>A	ENST00000555818.1	+	2	1493	c.1145T>A	c.(1144-1146)tTt>tAt	p.F382Y	SIPA1L1_ENST00000381232.3_Missense_Mutation_p.F382Y|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.F382Y	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	382					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TCAGCCAGTTTTAGCTCCCCA	0.507																																					p.F382Y													.	SIPA1L1-156	0			c.T1145A						.						58.0	60.0	60.0					14																	72055734		2203	4300	6503	SO:0001583	missense	26037	exon2			CCAGTTTTAGCTC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1145T>A	14.37:g.72055734T>A	ENSP00000450832:p.Phe382Tyr	Somatic	101	0		WXS	Illumina HiSeq	Phase_I	52	18	NM_015556	0	0	39	76	37	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	37	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	T	2.443	-0.328205	0.05314	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550	T;T;T	0.76578	-1.03;-1.03;-1.03	6.07	6.07	0.98685	.	0.045544	0.85682	D	0.000000	T	0.62380	0.2423	N	0.13043	0.29	0.80722	D	1	P;B;B	0.51537	0.946;0.082;0.023	B;B;B	0.43386	0.418;0.091;0.016	T	0.65578	-0.6134	10	0.02654	T	1	-24.1026	16.6407	0.85098	0.0:0.0:0.0:1.0	.	382;382;382	A6H8W6;O43166-2;O43166	.;.;SI1L1_HUMAN	Y	382	ENSP00000370630:F382Y;ENSP00000450832:F382Y;ENSP00000351352:F382Y	ENSP00000351352:F382Y	F	+	2	0	SIPA1L1	71125487	1.000000	0.71417	0.791000	0.31998	0.902000	0.53008	3.502000	0.53332	2.326000	0.78906	0.533000	0.62120	TTT	.		0.507	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
THBS1	7057	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	39885267	39885267	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr15:39885267T>C	ENST00000260356.5	+	18	2999	c.2834T>C	c.(2833-2835)aTc>aCc	p.I945T	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	945					activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ATCGATGACATCTGTCCTGAG	0.478																																					p.I945T		.											.	THBS1-653	0			c.T2834C						.						78.0	68.0	71.0					15																	39885267		2200	4297	6497	SO:0001583	missense	7057	exon18			ATGACATCTGTCC		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.2834T>C	15.37:g.39885267T>C	ENSP00000260356:p.Ile945Thr	Somatic	104	0		WXS	Illumina HiSeq	Phase_I	73	33	NM_003246	0	0	36	95	59	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	T	19.57	3.852666	0.71719	.	.	ENSG00000137801	ENST00000260356	D	0.98164	-4.76	5.68	5.68	0.88126	.	0.000000	0.36778	N	0.002417	D	0.94598	0.8259	N	0.04880	-0.145	0.49798	D	0.999827	P;P	0.47762	0.725;0.9	B;B	0.43990	0.438;0.387	D	0.95190	0.8307	10	0.39692	T	0.17	-26.1702	15.8963	0.79336	0.0:0.0:0.0:1.0	.	860;945	B4E3J7;P07996	.;TSP1_HUMAN	T	945	ENSP00000260356:I945T	ENSP00000260356:I945T	I	+	2	0	THBS1	37672559	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.036000	0.88901	2.153000	0.67306	0.533000	0.62120	ATC	.		0.478	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	
EPB42	2038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	43508525	43508525	+	Missense_Mutation	SNP	C	C	T	rs202154600		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr15:43508525C>T	ENST00000441366.2	-	2	362	c.137G>A	c.(136-138)cGc>cAc	p.R46H	EPB42_ENST00000540029.1_Missense_Mutation_p.R46H|EPB42_ENST00000300215.3_Missense_Mutation_p.R76H	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	46					cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GACTGGAGCGCGGAAGTACAG	0.597																																					p.R76H		.											.	EPB42-92	0			c.G227A						.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	102.0	90.0	94.0		227,137	-5.0	0.0	15		94	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	EPB42	NM_000119.2,NM_001114134.1	29,29	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	76/722,46/692	43508525	1,13003	2203	4299	6502	SO:0001583	missense	2038	exon2			GGAGCGCGGAAGT	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.137G>A	15.37:g.43508525C>T	ENSP00000396616:p.Arg46His	Somatic	121	1		WXS	Illumina HiSeq	Phase_I	72	33	NM_000119	0	0	0	0	0	Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.569261	0.28003	0.0	1.16E-4	ENSG00000166947	ENST00000300215;ENST00000540029;ENST00000441366;ENST00000397027	D;D;D	0.84873	-1.91;-1.91;-1.91	5.02	-5.0	0.03001	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	1.112950	0.06532	N	0.741688	T	0.73860	0.3641	N	0.13235	0.315	0.09310	N	1	P;B;B	0.35774	0.519;0.009;0.003	B;B;B	0.40940	0.344;0.002;0.002	T	0.66040	-0.6022	10	0.46703	T	0.11	-0.001	8.754	0.34635	0.0:0.2841:0.1106:0.6053	.	46;76;46	F5H563;P16452-2;P16452	.;.;EPB42_HUMAN	H	76;46;46;46	ENSP00000300215:R76H;ENSP00000444699:R46H;ENSP00000396616:R46H	ENSP00000300215:R76H	R	-	2	0	EPB42	41295817	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.989000	0.03736	-0.915000	0.03823	-0.140000	0.14226	CGC	C|0.999;T|0.001		0.597	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119	
TLN2	83660	ucsc.edu	37	15	63047869	63047869	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr15:63047869G>A	ENST00000561311.1	+	36	4845	c.4615G>A	c.(4615-4617)Gcc>Acc	p.A1539T	TLN2_ENST00000472902.1_5'Flank|TLN2_ENST00000306829.6_Missense_Mutation_p.A1539T			Q9Y4G6	TLN2_HUMAN	talin 2	1539					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAACAGCACTGCCAACCTGGT	0.557																																					p.A1539T													.	TLN2-573	0			c.G4615A						.						99.0	80.0	86.0					15																	63047869		2203	4300	6503	SO:0001583	missense	83660	exon34			AGCACTGCCAACC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4615G>A	15.37:g.63047869G>A	ENSP00000453508:p.Ala1539Thr	Somatic	66	0		WXS	Illumina HiSeq		37	4	NM_015059	0	0	33	33	0	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	37	6.228070	0.97394	.	.	ENSG00000171914	ENST00000306829	T	0.32023	1.47	6.1	6.1	0.99115	.	0.000000	0.85682	D	0.000000	T	0.58177	0.2104	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.46162	-0.9211	10	0.29301	T	0.29	-19.2713	20.7146	0.99709	0.0:0.0:1.0:0.0	.	1539	Q9Y4G6	TLN2_HUMAN	T	1539	ENSP00000303476:A1539T	ENSP00000303476:A1539T	A	+	1	0	TLN2	60835161	1.000000	0.71417	0.979000	0.43373	0.989000	0.77384	9.646000	0.98474	2.902000	0.99343	0.650000	0.86243	GCC	.		0.557	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2		
HMG20A	10363	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	77756662	77756662	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr15:77756662A>G	ENST00000381714.3	+	4	598	c.170A>G	c.(169-171)cAa>cGa	p.Q57R	HMG20A_ENST00000336216.4_Missense_Mutation_p.Q57R	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	57					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of neuron differentiation (GO:0045665)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GATCTCTCTCAAGGTCAGTTG	0.448																																					p.Q57R		.											.	HMG20A-228	0			c.A170G						.						130.0	110.0	117.0					15																	77756662		2196	4294	6490	SO:0001583	missense	10363	exon4			TCTCTCAAGGTCA	AF146222	CCDS10295.1	15q24	2011-07-01	2011-04-05		ENSG00000140382	ENSG00000140382		"""High mobility group / Non-canonical"""	5001	protein-coding gene	gene with protein product	"""HMG box domain containing 1"""	605534	"""high-mobility group 20A"""			10773667	Standard	NM_018200		Approved	HMGX1, FLJ10739, HMGXB1	uc002bcr.3	Q9NP66	OTTHUMG00000143729	ENST00000381714.3:c.170A>G	15.37:g.77756662A>G	ENSP00000371133:p.Gln57Arg	Somatic	101	0		WXS	Illumina HiSeq	Phase_I	93	38	NM_018200	0	0	19	32	13	A6NHY3|D3DW78|Q53G31|Q9NSF6	Missense_Mutation	SNP	ENST00000381714.3	37	CCDS10295.1	.	.	.	.	.	.	.	.	.	.	A	16.35	3.099511	0.56183	.	.	ENSG00000140382	ENST00000336216;ENST00000381714	T;T	0.69926	-0.44;-0.44	5.71	4.59	0.56863	.	0.387563	0.28431	N	0.015378	T	0.67211	0.2869	L	0.27053	0.805	0.36537	D	0.871089	P;B	0.39094	0.659;0.003	P;B	0.55391	0.775;0.007	T	0.72184	-0.4367	10	0.52906	T	0.07	-14.0293	9.4942	0.38978	0.9188:0.0:0.0812:0.0	.	57;57	Q9NP66;Q9NP66-2	HM20A_HUMAN;.	R	57	ENSP00000336856:Q57R;ENSP00000371133:Q57R	ENSP00000336856:Q57R	Q	+	2	0	HMG20A	75543717	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.285000	0.51716	0.993000	0.38866	0.533000	0.62120	CAA	.		0.448	HMG20A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419512.2	NM_018200	
TSC2	7249	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	2130345	2130345	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr16:2130345G>A	ENST00000219476.3	+	30	4207	c.3577G>A	c.(3577-3579)Ggc>Agc	p.G1193S	TSC2_ENST00000439673.2_Missense_Mutation_p.G1113S|TSC2_ENST00000350773.4_Missense_Mutation_p.G1193S|TSC2_ENST00000401874.2_Missense_Mutation_p.G1149S|TSC2_ENST00000353929.4_Missense_Mutation_p.G1150S|TSC2_ENST00000568454.1_Missense_Mutation_p.G1160S|TSC2_ENST00000382538.6_Missense_Mutation_p.G1101S	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1193					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				GCTGACCCAGGGCTGGGCGGA	0.662			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.G1193S		.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	.	TSC2-1908	0			c.G3577A						.						41.0	46.0	45.0					16																	2130345		2198	4296	6494	SO:0001583	missense	7249	exon30	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	ACCCAGGGCTGGG	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.3577G>A	16.37:g.2130345G>A	ENSP00000219476:p.Gly1193Ser	Somatic	118	0		WXS	Illumina HiSeq	Phase_I	98	25	NM_001114382	0	0	55	82	27	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	34	5.377719	0.95945	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.94046	-3.28;-3.29;-3.34;-3.34;-3.24	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	D	0.96005	0.8699	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.997;0.968;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.99;0.91;1.0;0.999;0.994	D	0.95223	0.8335	10	0.34782	T	0.22	-36.9837	17.7425	0.88411	0.0:0.0:1.0:0.0	.	1101;1113;1193;1149;1149;1193	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	S	1193;1150;1150;1113;1101;1193	ENSP00000219476:G1193S;ENSP00000248099:G1150S;ENSP00000399232:G1113S;ENSP00000371978:G1101S;ENSP00000344383:G1193S	ENSP00000219476:G1193S	G	+	1	0	TSC2	2070346	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.929000	0.92859	2.196000	0.70406	0.561000	0.74099	GGC	.		0.662	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
NLRC3	197358	ucsc.edu	37	16	3613310	3613310	+	RNA	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr16:3613310C>T	ENST00000301749.7	-	0	2033				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACCTGGGTCCGGTAGGCCTG	0.677																																					p.R543Q													.	NLRC3-96	0			c.G1628A						.						8.0	10.0	10.0					16																	3613310		2069	4167	6236			197358	exon5			TGGGTCCGGTAGG	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3613310C>T		Somatic	25	0		WXS	Illumina HiSeq		24	4	NM_178844	0	0	0	0	0	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37		.	.	.	.	.	.	.	.	.	.	C	12.31	1.900126	0.33535	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76	5.2	2.21	0.28008	.	0.271357	0.35096	N	0.003452	T	0.67571	0.2907	.	.	.	0.20074	N	0.999931	B	0.28584	0.216	B	0.16722	0.016	T	0.51671	-0.8676	9	0.23891	T	0.37	.	8.8536	0.35214	0.0:0.763:0.0:0.237	.	590	C9JLH9	.	Q	543;543;543;590;525	ENSP00000301749:R543Q;ENSP00000352039:R543Q;ENSP00000414415:R590Q;ENSP00000323897:R525Q	ENSP00000301749:R543Q	R	-	2	0	NLRC3	3553311	0.997000	0.39634	0.404000	0.26397	0.633000	0.38033	3.553000	0.53713	0.220000	0.20860	0.655000	0.94253	CGG	.		0.677	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844	
LOC81691	81691	broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	20851091	20851091	+	Silent	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr16:20851091C>T	ENST00000261377.6	+	14	1607	c.1398C>T	c.(1396-1398)gcC>gcT	p.A466A	AC004381.6_ENST00000564274.1_Silent_p.A466A|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Silent_p.A466A	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					TTGAGCAGGCCAGAGTGGAAA	0.448																																					p.A466A													.	LOC81691-92	0			c.C1398T						.						288.0	274.0	279.0					16																	20851091		2201	4300	6501	SO:0001819	synonymous_variant	0	exon14			GCAGGCCAGAGTG																												ENST00000261377.6:c.1398C>T	16.37:g.20851091C>T		Somatic	479	1		WXS	Illumina HiSeq	Phase_I	470	297	NM_030941	0	0	0	1	1		Silent	SNP	ENST00000261377.6	37	CCDS10591.1																																																																																			.		0.448	AC004381.6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254418.2		
CTDNEP1	23399	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	7149598	7149598	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:7149598A>G	ENST00000573600.1	-	6	873	c.452T>C	c.(451-453)aTt>aCt	p.I151T	CTDNEP1_ENST00000318988.6_Missense_Mutation_p.I151T|CTDNEP1_ENST00000574322.1_Missense_Mutation_p.I151T|CTD-2545G14.7_ENST00000570760.2_5'Flank|CTDNEP1_ENST00000572043.1_Missense_Mutation_p.I18T			O95476	CNEP1_HUMAN	CTD nuclear envelope phosphatase 1	151	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.				gamete generation (GO:0007276)|mesoderm development (GO:0007498)|nuclear envelope organization (GO:0006998)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein dephosphorylation (GO:0006470)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCTCTTAAGAATGCTTCTGCT	0.498																																					p.I151T		.											.	CTDNEP1-91	0			c.T452C						.						117.0	108.0	111.0					17																	7149598		2203	4300	6503	SO:0001583	missense	23399	exon5			TTAAGAATGCTTC	AJ011916	CCDS11093.1	17p13	2012-11-27	2010-10-27	2010-10-27	ENSG00000175826	ENSG00000175826		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	19085	protein-coding gene	gene with protein product	"""C-terminal domain nuclear envelope phosphatase 1"""	610684	"""dullard homolog (Xenopus laevis)"""	DULLARD		12083771, 17141153	Standard	NM_015343		Approved	HSA011916, NET56	uc002gfd.2	O95476	OTTHUMG00000102180	ENST00000573600.1:c.452T>C	17.37:g.7149598A>G	ENSP00000461749:p.Ile151Thr	Somatic	155	0		WXS	Illumina HiSeq	Phase_I	154	42	NM_001143775	0	0	188	274	86	D3DTN7|Q96GQ9	Missense_Mutation	SNP	ENST00000573600.1	37	CCDS11093.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.663502	0.47572	.	.	ENSG00000175826	ENST00000318988	T	0.17691	2.26	4.92	4.92	0.64577	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.057069	0.64402	D	0.000001	T	0.27900	0.0687	M	0.78223	2.4	0.58432	D	0.999998	B	0.21309	0.054	B	0.34038	0.174	T	0.09079	-1.0691	10	0.59425	D	0.04	-8.3255	12.5573	0.56261	1.0:0.0:0.0:0.0	.	151	O95476	CNEP1_HUMAN	T	151	ENSP00000321732:I151T	ENSP00000321732:I151T	I	-	2	0	CTDNEP1	7090322	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.729000	0.84864	2.062000	0.61559	0.482000	0.46254	ATT	.		0.498	CTDNEP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440215.1	NM_015343	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C_ENST00000584811.1_5'UTR|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.	0			c.G152A						.						274.0	265.0	268.0					17																	15457087		2203	4300	6503	SO:0001583	missense	201158	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr	Somatic	376	26		WXS	Illumina HiSeq		436	39	NM_145301	0	0	9	54	45	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT	.		0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301	
NCOR1	9611	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	16089949	16089949	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:16089949G>C	ENST00000268712.3	-	3	418	c.161C>G	c.(160-162)tCa>tGa	p.S54*	NCOR1_ENST00000395851.1_Nonsense_Mutation_p.S54*|NCOR1_ENST00000395848.1_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	54	Interaction with ZBTB33 and HEXIM1.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAAAAGCTGTGATGCCTGACT	0.403																																					p.S54X		.											.	NCOR1-229	0			c.C161G						.						91.0	81.0	84.0					17																	16089949		2203	4300	6503	SO:0001587	stop_gained	9611	exon2			AGCTGTGATGCCT	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.161C>G	17.37:g.16089949G>C	ENSP00000268712:p.Ser54*	Somatic	70	0		WXS	Illumina HiSeq	Phase_I	98	29	NM_001190440	0	0	54	104	50	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Nonsense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	38	6.755855	0.97813	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000458113;ENST00000411510;ENST00000436828;ENST00000430577	.	.	.	5.78	5.78	0.91487	.	0.177313	0.39407	N	0.001372	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-9.9916	19.0021	0.92838	0.0:0.0:1.0:0.0	.	.	.	.	X	54	.	ENSP00000268712:S54X	S	-	2	0	NCOR1	16030674	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	6.537000	0.73847	2.724000	0.93272	0.563000	0.77884	TCA	.		0.403	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	NM_006311	
SRCIN1	80725	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	36708962	36708962	+	Splice_Site	SNP	C	C	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:36708962C>G	ENST00000264659.7	-	12	2555	c.2331G>C	c.(2329-2331)aaG>aaC	p.K777N	SRCIN1_ENST00000578925.1_Splice_Site_p.K811N|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	649					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CAGACCCACCCTTGAGCTCTG	0.632																																					p.K777N		.											.	.	0			c.G2331C						.						54.0	63.0	60.0					17																	36708962		2142	4265	6407	SO:0001630	splice_region_variant	80725	exon12			CCCACCCTTGAGC		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2332+1G>C	17.37:g.36708962C>G		Somatic	121	0		WXS	Illumina HiSeq	Phase_I	99	32	NM_025248	0	0	0	0	0	Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563310	0.65538	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.54071	0.59	4.73	3.75	0.43078	.	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.75085	2.285	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.999;0.999	T	0.68047	-0.5512	10	0.62326	D	0.03	-8.7012	6.4948	0.22136	0.0:0.7228:0.0:0.2772	.	83;649;649;777	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	N	777;558;631	ENSP00000264659:K777N	ENSP00000264659:K777N	K	-	3	2	SRCIN1	33962488	0.960000	0.32886	1.000000	0.80357	0.960000	0.62799	0.115000	0.15540	1.341000	0.45600	0.555000	0.69702	AAG	.		0.632	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248	Missense_Mutation
CASC3	22794	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	38319005	38319005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:38319005G>A	ENST00000264645.7	+	6	862	c.636G>A	c.(634-636)tgG>tgA	p.W212*		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	212	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GAAAGCTATGGAAGGATGAGG	0.493																																					p.W212X		.											.	CASC3-91	0			c.G636A						.						72.0	66.0	68.0					17																	38319005		2203	4300	6503	SO:0001587	stop_gained	22794	exon6			GCTATGGAAGGAT	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.636G>A	17.37:g.38319005G>A	ENSP00000264645:p.Trp212*	Somatic	67	0		WXS	Illumina HiSeq	Phase_I	59	15	NM_007359	0	0	63	66	3	A8K8R0	Nonsense_Mutation	SNP	ENST00000264645.7	37	CCDS11362.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.388249	0.82902	.	.	ENSG00000108349	ENST00000264645;ENST00000418132;ENST00000394114	.	.	.	4.63	4.63	0.57726	.	0.114993	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.2823	17.6407	0.88135	0.0:0.0:1.0:0.0	.	.	.	.	X	212	.	ENSP00000264645:W212X	W	+	3	0	CASC3	35572531	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.390000	0.97246	2.565000	0.86533	0.561000	0.74099	TGG	.		0.493	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	NM_007359	
MPO	4353	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	56348163	56348163	+	Missense_Mutation	SNP	A	A	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:56348163A>T	ENST00000225275.3	-	12	2268	c.2092T>A	c.(2092-2094)Tca>Aca	p.S698T	MPO_ENST00000340482.3_Missense_Mutation_p.S730T	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	698					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CGGGGCAATGAGATCTGGGCC	0.547																																					p.S698T		.											.	MPO-156	0			c.T2092A						.						233.0	180.0	198.0					17																	56348163		2203	4300	6503	SO:0001583	missense	4353	exon12			GCAATGAGATCTG		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2092T>A	17.37:g.56348163A>T	ENSP00000225275:p.Ser698Thr	Somatic	144	0		WXS	Illumina HiSeq	Phase_I	93	57	NM_000250	0	0	0	0	0	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973327	0.53614	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.68624	-0.34;-0.34	5.76	3.3	0.37823	.	0.161988	0.56097	N	0.000025	T	0.56601	0.1996	L	0.33792	1.035	0.80722	D	1	B	0.19817	0.039	B	0.29524	0.103	T	0.55237	-0.8172	10	0.51188	T	0.08	-34.2797	11.513	0.50504	0.7489:0.0:0.0:0.2511	.	698	P05164	PERM_HUMAN	T	730;698	ENSP00000344419:S730T;ENSP00000225275:S698T	ENSP00000225275:S698T	S	-	1	0	MPO	53703162	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	2.270000	0.43355	0.973000	0.38340	0.533000	0.62120	TCA	.		0.547	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		
INTS2	57508	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	59981846	59981846	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr17:59981846G>T	ENST00000444766.3	-	9	1381	c.1306C>A	c.(1306-1308)Cta>Ata	p.L436I	INTS2_ENST00000251334.6_Missense_Mutation_p.L428I	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	436					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						AAGGCCAGTAGCATACAAAAG	0.403																																					p.L436I		.											.	INTS2-206	0			c.C1306A						.						74.0	75.0	75.0					17																	59981846		1918	4106	6024	SO:0001583	missense	57508	exon9			CCAGTAGCATACA	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1306C>A	17.37:g.59981846G>T	ENSP00000414237:p.Leu436Ile	Somatic	37	1		WXS	Illumina HiSeq	Phase_I	28	19	NM_020748	0	0	6	9	3	Q9ULD3	Missense_Mutation	SNP	ENST00000444766.3	37	CCDS45750.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932135	0.73442	.	.	ENSG00000108506	ENST00000444766;ENST00000251334	T	0.57436	0.4	5.33	4.36	0.52297	.	0.000000	0.85682	D	0.000000	T	0.66396	0.2785	L	0.55213	1.73	0.58432	D	0.999999	D	0.67145	0.996	D	0.80764	0.994	T	0.65721	-0.6099	9	.	.	.	-7.6987	14.0683	0.64844	0.0728:0.0:0.9272:0.0	.	436	Q9H0H0	INT2_HUMAN	I	436;435	ENSP00000414237:L436I	.	L	-	1	2	INTS2	57336628	1.000000	0.71417	0.987000	0.45799	0.970000	0.65996	5.045000	0.64220	1.252000	0.44001	0.467000	0.42956	CTA	.		0.403	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	NM_020748	
PALM	5064	ucsc.edu;bcgsc.ca	37	19	731193	731193	+	Missense_Mutation	SNP	C	C	G	rs568795902		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:731193C>G	ENST00000338448.5	+	5	414	c.368C>G	c.(367-369)cCg>cGg	p.P123R	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000264560.7_Missense_Mutation_p.P123R	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	123					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		GCCCCAGCCCCGAGTCCAGCC	0.662																																					p.P123R													.	PALM-68	0			c.C368G						.						28.0	26.0	27.0					19																	731193		2190	4298	6488	SO:0001583	missense	5064	exon5			CAGCCCCGAGTCC	Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.368C>G	19.37:g.731193C>G	ENSP00000341911:p.Pro123Arg	Somatic	44	0		WXS	Illumina HiSeq		18	5	NM_002579	0	0	39	57	18	O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Missense_Mutation	SNP	ENST00000338448.5	37	CCDS32857.1	.	.	.	.	.	.	.	.	.	.	C	5.686	0.311082	0.10789	.	.	ENSG00000099864	ENST00000338448;ENST00000264560	T;T	0.30448	2.01;1.53	3.69	1.44	0.22558	.	0.868385	0.09712	U	0.765632	T	0.37892	0.1020	L	0.56769	1.78	0.09310	N	1	P;B;P	0.44946	0.782;0.451;0.846	P;B;P	0.49561	0.53;0.242;0.615	T	0.23048	-1.0199	10	0.66056	D	0.02	-1.9056	7.2275	0.26024	0.0:0.7786:0.0:0.2214	.	123;123;123	B7Z649;O75781-2;O75781	.;.;PALM_HUMAN	R	123	ENSP00000341911:P123R;ENSP00000264560:P123R	ENSP00000264560:P123R	P	+	2	0	PALM	682193	0.000000	0.05858	0.001000	0.08648	0.060000	0.15804	-0.318000	0.08050	0.064000	0.16427	0.511000	0.50034	CCG	.		0.662	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457592.1	NM_002579	
PIP5K1C	23396	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	3648675	3648675	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:3648675C>T	ENST00000335312.3	-	9	1247	c.1159G>A	c.(1159-1161)Ggg>Agg	p.G387R	PIP5K1C_ENST00000537021.1_Missense_Mutation_p.G387R|PIP5K1C_ENST00000587482.1_5'Flank|PIP5K1C_ENST00000589578.1_Missense_Mutation_p.G387R|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.G387R	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	387	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				actin cytoskeleton organization (GO:0030036)|adherens junction assembly (GO:0034333)|axon guidance (GO:0007411)|clathrin-mediated endocytosis (GO:0072583)|cytoskeletal anchoring at plasma membrane (GO:0007016)|neutrophil chemotaxis (GO:0030593)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet aggregation (GO:0070527)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle exocytosis (GO:0016079)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGCCGCTCCCCGCGGCCGTTC	0.692																																					p.G387R	Esophageal Squamous(135;99 1744 12852 27186 39851)												.	PIP5K1C-267	0			c.G1159A						.						34.0	36.0	35.0					19																	3648675		2199	4291	6490	SO:0001583	missense	23396	exon9			GCTCCCCGCGGCC	AB011161	CCDS32872.1, CCDS56074.1, CCDS74257.1	19p13.3	2012-10-02			ENSG00000186111	ENSG00000186111			8996	protein-coding gene	gene with protein product		606102				9535851	Standard	NM_001195733		Approved	PIP5Kgamma, KIAA0589, LCCS3	uc002lyj.2	O60331	OTTHUMG00000180870	ENST00000335312.3:c.1159G>A	19.37:g.3648675C>T	ENSP00000335333:p.Gly387Arg	Somatic	99	0		WXS	Illumina HiSeq	Phase_I	46	24	NM_001195733	0	0	22	41	19	B7Z9E7|C6GIJ7|C6GIJ8|Q7LE07	Missense_Mutation	SNP	ENST00000335312.3	37	CCDS32872.1	.	.	.	.	.	.	.	.	.	.	C	18.95	3.731850	0.69189	.	.	ENSG00000186111	ENST00000335312;ENST00000539785;ENST00000537021	T;T;T	0.30714	1.52;1.52;1.52	4.04	4.04	0.47022	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.56558	0.1993	M	0.85859	2.78	0.80722	D	1	D;D	0.76494	0.994;0.999	P;P	0.62491	0.674;0.903	T	0.67245	-0.5719	10	0.87932	D	0	-31.0387	15.1514	0.72703	0.0:1.0:0.0:0.0	.	387;387	O60331-3;O60331	.;PI51C_HUMAN	R	387	ENSP00000335333:G387R;ENSP00000445992:G387R;ENSP00000444779:G387R	ENSP00000335333:G387R	G	-	1	0	PIP5K1C	3599675	1.000000	0.71417	0.918000	0.36340	0.204000	0.24138	7.735000	0.84939	1.795000	0.52594	0.297000	0.19635	GGG	.		0.692	PIP5K1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453432.2	NM_012398	
APBA3	9546	bcgsc.ca	37	19	3760228	3760228	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:3760228C>T	ENST00000316757.3	-	2	235	c.35G>A	c.(34-36)gGg>gAg	p.G12E	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	12					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTGGAGGCCCCGAAGGGGA	0.622																																					p.G12E													.	APBA3-90	0			c.G35A						.						20.0	24.0	23.0					19																	3760228		2178	4268	6446	SO:0001583	missense	9546	exon2			GGAGGCCCCGAAG	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.35G>A	19.37:g.3760228C>T	ENSP00000315136:p.Gly12Glu	Somatic	68	0		WXS	Illumina HiSeq	Phase_1	22	8	NM_004886	0	0	12	23	11	O60483|Q9UPZ2	Missense_Mutation	SNP	ENST00000316757.3	37	CCDS12110.1	.	.	.	.	.	.	.	.	.	.	C	7.609	0.674440	0.14841	.	.	ENSG00000011132	ENST00000316757	T	0.47528	0.84	4.73	1.04	0.20106	.	0.940149	0.08769	N	0.896650	T	0.29491	0.0735	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21930	-1.0231	10	0.28530	T	0.3	.	3.0292	0.06101	0.0:0.4692:0.2333:0.2976	.	12	O96018	APBA3_HUMAN	E	12	ENSP00000315136:G12E	ENSP00000315136:G12E	G	-	2	0	APBA3	3711228	0.000000	0.05858	0.071000	0.20095	0.047000	0.14425	-0.370000	0.07523	0.414000	0.25790	0.561000	0.74099	GGG	.		0.622	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2		
PSMD8	5714	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	38874011	38874011	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:38874011A>G	ENST00000215071.4	+	7	1100	c.1034A>G	c.(1033-1035)cAg>cGg	p.Q345R	AC005789.9_ENST00000585411.1_RNA|PSMD8_ENST00000602911.1_Missense_Mutation_p.Q282R|GGN_ENST00000591809.1_5'Flank	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	345					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)|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)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TATGCCCGGCAGCTGGAGATG	0.557																																					p.Q345R		.											.	PSMD8-68	0			c.A1034G						.						49.0	41.0	43.0					19																	38874011		2203	4300	6503	SO:0001583	missense	5714	exon7			CCCGGCAGCTGGA	D38047	CCDS12515.2	19q13.2	2009-05-07			ENSG00000099341	ENSG00000099341		"""Proteasome (prosome, macropain) subunits"""	9566	protein-coding gene	gene with protein product						7621825	Standard	NM_002812		Approved	S14, Nin1p, p31, HIP6, HYPF, Rpn12	uc002oii.4	P48556	OTTHUMG00000150691	ENST00000215071.4:c.1034A>G	19.37:g.38874011A>G	ENSP00000215071:p.Gln345Arg	Somatic	66	0		WXS	Illumina HiSeq	Phase_I	28	9	NM_002812	0	0	73	127	54	B4DX18|Q6P1L7	Missense_Mutation	SNP	ENST00000215071.4	37	CCDS12515.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.459422	0.84317	.	.	ENSG00000099341	ENST00000215071	.	.	.	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.48660	0.1512	L	0.47190	1.495	0.80722	D	1	D	0.54207	0.965	P	0.45071	0.468	T	0.54234	-0.8324	9	0.62326	D	0.03	-19.6009	11.6721	0.51408	1.0:0.0:0.0:0.0	.	345	P48556	PSMD8_HUMAN	R	345	.	ENSP00000215071:Q345R	Q	+	2	0	PSMD8	43565851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.193000	0.89719	1.919000	0.55581	0.448000	0.29417	CAG	.		0.557	PSMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319627.1	NM_002812	
ZNF180	7733	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	44981073	44981073	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:44981073G>C	ENST00000221327.4	-	5	1906	c.1625C>G	c.(1624-1626)aCt>aGt	p.T542S	ZNF180_ENST00000391956.4_Missense_Mutation_p.T517S|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank|ZNF180_ENST00000592529.1_Missense_Mutation_p.T515S	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	542					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TCCAGTGTGAGTTCTTTGATG	0.423																																					p.T542S	Esophageal Squamous(180;1353 2003 32862 46574 49854)	.											.	ZNF180-92	0			c.C1625G						.						77.0	77.0	77.0					19																	44981073		2203	4300	6503	SO:0001583	missense	7733	exon5			GTGTGAGTTCTTT	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1625C>G	19.37:g.44981073G>C	ENSP00000221327:p.Thr542Ser	Somatic	96	0		WXS	Illumina HiSeq	Phase_I	89	33	NM_013256	0	0	2	4	2	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808114	0.50421	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.00662	5.93;5.93	5.23	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43416	D	0.000561	T	0.01029	0.0034	L	0.38692	1.165	0.80722	D	1	P;P;P	0.45428	0.828;0.858;0.858	B;P;P	0.47981	0.335;0.563;0.563	T	0.68884	-0.5291	10	0.62326	D	0.03	-11.2816	5.453	0.16574	0.1458:0.0:0.6595:0.1947	.	517;541;542	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	S	542;517	ENSP00000221327:T542S;ENSP00000375818:T517S	ENSP00000221327:T542S	T	-	2	0	ZNF180	49672913	0.000000	0.05858	1.000000	0.80357	0.982000	0.71751	0.203000	0.17315	2.437000	0.82529	0.467000	0.42956	ACT	.		0.423	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
RSPH6A	81492	broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	46317979	46317979	+	Silent	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:46317979G>A	ENST00000221538.3	-	1	598	c.456C>T	c.(454-456)taC>taT	p.Y152Y	RSPH6A_ENST00000597055.1_Silent_p.Y152Y|SYMPK_ENST00000598155.1_5'Flank	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	152						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTCTGTCTGGTAGAGGTTGA	0.602																																					p.Y152Y													.	RSPH6A-91	0			c.C456T						.						52.0	55.0	54.0					19																	46317979		2203	4300	6503	SO:0001819	synonymous_variant	81492	exon1			TGTCTGGTAGAGG	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.456C>T	19.37:g.46317979G>A		Somatic	101	0		WXS	Illumina HiSeq	Phase_I	50	12	NM_030785	0	0	0	0	0	Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	CCDS12675.1																																																																																			.		0.602	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1		
LILRA3	11026	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	54803120	54803120	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:54803120G>T	ENST00000251390.3	-	4	648	c.557C>A	c.(556-558)cCc>cAc	p.P186H	LILRA3_ENST00000391745.1_Missense_Mutation_p.P203H|LILRA3_ENST00000391744.3_Intron	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	186	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGCTCACGGGGCCCACGGA	0.587																																					p.P186H		.											.	LILRA3-91	0			c.C557A						.						134.0	113.0	120.0					19																	54803120		2195	4162	6357	SO:0001583	missense	11026	exon4			CTCACGGGGCCCA	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.557C>A	19.37:g.54803120G>T	ENSP00000251390:p.Pro186His	Somatic	215	0		WXS	Illumina HiSeq	Phase_I	98	44	NM_006865	0	0	0	0	0	J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.877305	0.33162	.	.	ENSG00000170866	ENST00000251390;ENST00000391745	T;T	0.03124	4.04;4.04	2.21	1.09	0.20402	Immunoglobulin-like fold (1);	0.593476	0.14797	N	0.297850	T	0.16214	0.0390	M	0.87269	2.87	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.03534	-1.1027	10	0.87932	D	0	.	5.2465	0.15500	0.1757:0.0:0.8243:0.0	.	186	Q8N6C8	LIRA3_HUMAN	H	186;203	ENSP00000251390:P186H;ENSP00000375625:P203H	ENSP00000251390:P186H	P	-	2	0	LILRA3	59494932	0.002000	0.14202	0.008000	0.14137	0.032000	0.12392	0.663000	0.25053	0.493000	0.27837	0.586000	0.80456	CCC	.		0.587	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1		
PPP6R1	22870	ucsc.edu	37	19	55752390	55752390	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:55752390C>G	ENST00000412770.2	-	10	1785	c.1219G>C	c.(1219-1221)Gtg>Ctg	p.V407L	PPP6R1_ENST00000587283.1_Missense_Mutation_p.V407L	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	407					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						ATGGTGCTCACGCATCCCTCT	0.567																																					p.V407L													.	PPP6R1-67	0			c.G1219C						.						53.0	57.0	55.0					19																	55752390		2067	4220	6287	SO:0001583	missense	22870	exon10			TGCTCACGCATCC	AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1219G>C	19.37:g.55752390C>G	ENSP00000414202:p.Val407Leu	Somatic	13	0		WXS	Illumina HiSeq		4	1	NM_014931	0	0	38	86	48	Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	CCDS46186.1	.	.	.	.	.	.	.	.	.	.	C	9.148	1.015480	0.19355	.	.	ENSG00000105063	ENST00000412770	T	0.55588	0.51	4.98	1.46	0.22682	.	0.132441	0.33753	N	0.004597	T	0.41190	0.1148	L	0.59436	1.845	0.24137	N	0.995745	B	0.06786	0.001	B	0.14578	0.011	T	0.21348	-1.0248	10	0.30854	T	0.27	-24.2599	4.5722	0.12216	0.0:0.4726:0.2548:0.2726	.	407	Q9UPN7	PP6R1_HUMAN	L	407	ENSP00000414202:V407L	ENSP00000414202:V407L	V	-	1	0	PPP6R1	60444202	0.003000	0.15002	0.812000	0.32479	0.168000	0.22595	0.237000	0.17985	0.631000	0.30412	0.462000	0.41574	GTG	.		0.567	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931	
ZNF324B	388569	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	19	58966903	58966903	+	Missense_Mutation	SNP	T	T	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:58966903T>A	ENST00000336614.4	+	4	699	c.592T>A	c.(592-594)Tgt>Agt	p.C198S	ZNF324B_ENST00000545523.1_Missense_Mutation_p.C198S|ZNF324B_ENST00000391696.1_Missense_Mutation_p.C188S	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GCAGAAGCCATGTGCACAGGA	0.672																																					p.C198S		.											.	ZNF324B-91	0			c.T592A						.						36.0	40.0	39.0					19																	58966903		2203	4300	6503	SO:0001583	missense	388569	exon4			AAGCCATGTGCAC	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.592T>A	19.37:g.58966903T>A	ENSP00000337473:p.Cys198Ser	Somatic	117	0		WXS	Illumina HiSeq	Phase_I	44	17	NM_207395	0	0	3	3	0	B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756192	0.31137	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.06294	3.49;3.49;3.32	2.7	-1.7	0.08159	.	3.208830	0.01016	N	0.003905	T	0.05364	0.0142	L	0.27053	0.805	0.09310	N	1	B;B	0.23185	0.081;0.003	B;B	0.16289	0.015;0.002	T	0.39078	-0.9631	10	0.62326	D	0.03	.	4.2594	0.10733	0.0:0.2411:0.2439:0.5151	.	198;188	Q6AW86;C9JTQ8	Z324B_HUMAN;.	S	198;198;188	ENSP00000337473:C198S;ENSP00000438930:C198S;ENSP00000375578:C188S	ENSP00000337473:C198S	C	+	1	0	ZNF324B	63658715	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.422000	0.02453	-0.415000	0.07484	0.402000	0.26972	TGT	.		0.672	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395	
PAPOLG	64895	broad.mit.edu	37	2	61009021	61009021	+	Splice_Site	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:61009021T>C	ENST00000238714.3	+	11	1157	c.908T>C	c.(907-909)gTa>gCa	p.V303A	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	303					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)			ATTTCACAGGTAAATCCATCA	0.358																																					p.V303A	GBM(183;1497 2932 21839 46797)												.	PAPOLG-69	0			c.T908C						.						155.0	147.0	150.0					2																	61009021		2203	4300	6503	SO:0001630	splice_region_variant	64895	exon11			CACAGGTAAATCC	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.907-1T>C	2.37:g.61009021T>C		Somatic	102	0		WXS	Illumina HiSeq	Phase_I	136	4	NM_022894	0	0	0	0	0	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Missense_Mutation	SNP	ENST00000238714.3	37	CCDS1863.1	.	.	.	.	.	.	.	.	.	.	T	17.04	3.287040	0.59867	.	.	ENSG00000115421	ENST00000238714	.	.	.	6.07	6.07	0.98685	Poly(A) polymerase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.78266	0.4256	M	0.73430	2.235	0.80722	D	1	P	0.42203	0.773	P	0.58928	0.848	T	0.79364	-0.1834	9	0.66056	D	0.02	-17.6449	16.3021	0.82825	0.0:0.0:0.0:1.0	.	303	Q9BWT3	PAPOG_HUMAN	A	303	.	ENSP00000238714:V303A	V	+	2	0	PAPOLG	60862525	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.781000	0.85668	2.326000	0.78906	0.533000	0.62120	GTA	.		0.358	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251577.3	NM_022894	Missense_Mutation
TGFA	7039	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	70742029	70742029	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:70742029G>A	ENST00000295400.6	-	2	303	c.56C>T	c.(55-57)gCg>gTg	p.A19V	TGFA_ENST00000445399.1_Missense_Mutation_p.A19V|TGFA_ENST00000418333.2_Missense_Mutation_p.A19V|TGFA_ENST00000444975.1_Missense_Mutation_p.A25V|TGFA_ENST00000450929.1_Missense_Mutation_p.A25V|TGFA_ENST00000460808.1_5'UTR	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	19					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)	p.A19V(1)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GGCCTGGCACGCAGCCAACAC	0.597																																					p.A19V													.	TGFA-683	1	Substitution - Missense(1)	lung(1)	c.C56T						.						74.0	65.0	68.0					2																	70742029		2203	4300	6503	SO:0001583	missense	7039	exon2			TGGCACGCAGCCA		CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.56C>T	2.37:g.70742029G>A	ENSP00000295400:p.Ala19Val	Somatic	70	1		WXS	Illumina HiSeq	Phase_I	49	24	NM_001099691	0	0	10	17	7	A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Missense_Mutation	SNP	ENST00000295400.6	37	CCDS1905.1	.	.	.	.	.	.	.	.	.	.	G	5.866	0.344039	0.11126	.	.	ENSG00000163235	ENST00000295400;ENST00000445399;ENST00000418333;ENST00000450929;ENST00000444975;ENST00000394241	T;T;T;T;T;T	0.17213	2.55;2.31;2.31;2.3;2.29;2.3	5.14	2.6	0.31112	.	0.377651	0.24940	N	0.034385	T	0.07098	0.0180	N	0.08118	0	0.24501	N	0.994259	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.36553	-0.9743	10	0.20519	T	0.43	.	6.2326	0.20744	0.7672:0.0:0.2328:0.0	.	25;25;19;19;19;19;19	E7EPT6;F8VNR3;P01135-5;Q9UKM3;P01135-3;P01135-2;P01135	.;.;.;.;.;.;TGFA_HUMAN	V	19;19;19;25;25;19	ENSP00000295400:A19V;ENSP00000387493:A19V;ENSP00000404099:A19V;ENSP00000414127:A25V;ENSP00000404131:A25V;ENSP00000377787:A19V	ENSP00000295400:A19V	A	-	2	0	TGFA	70595537	1.000000	0.71417	0.917000	0.36280	0.231000	0.25187	2.007000	0.40883	0.435000	0.26365	-0.345000	0.07892	GCG	.		0.597	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251870.2		
DCTN1	1639	broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	74597431	74597431	+	Missense_Mutation	SNP	T	T	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:74597431T>A	ENST00000361874.3	-	12	1486	c.1169A>T	c.(1168-1170)aAg>aTg	p.K390M	DCTN1_ENST00000409567.3_Missense_Mutation_p.K370M|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000409240.1_Missense_Mutation_p.K353M|DCTN1_ENST00000407639.2_Missense_Mutation_p.K256M|DCTN1_ENST00000409868.1_Missense_Mutation_p.K373M|DCTN1_ENST00000394003.3_Missense_Mutation_p.K383M|DCTN1_ENST00000409438.1_Missense_Mutation_p.K256M	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	390					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTTCTGGAGCTTCACATGCTC	0.547																																					p.K390M													.	DCTN1-95	0			c.A1169T						.						67.0	62.0	64.0					2																	74597431		2203	4300	6503	SO:0001583	missense	1639	exon12			TGGAGCTTCACAT		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1169A>T	2.37:g.74597431T>A	ENSP00000354791:p.Lys390Met	Somatic	79	0		WXS	Illumina HiSeq	Phase_I	69	22	NM_004082	0	0	92	138	46	A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.229932	0.79688	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-0.99;-1.04	4.86	4.86	0.63082	.	0.000000	0.45606	D	0.000354	D	0.88738	0.6518	M	0.86953	2.85	0.80722	D	1	D;D;D;D;D;D	0.76494	0.997;0.994;0.999;0.997;0.994;0.997	D;D;D;D;D;D	0.77557	0.922;0.946;0.99;0.94;0.973;0.975	D	0.90590	0.4536	10	0.72032	D	0.01	-14.2356	13.5624	0.61797	0.0:0.0:0.0:1.0	.	370;353;390;383;256;256	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	M	390;383;373;256;256;353;373;370	ENSP00000354791:K390M;ENSP00000377571:K383M;ENSP00000384844:K256M;ENSP00000387270:K256M;ENSP00000386406:K353M;ENSP00000387327:K373M;ENSP00000386843:K370M	ENSP00000354791:K390M	K	-	2	0	DCTN1	74450939	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.845000	0.86875	2.029000	0.59856	0.528000	0.53228	AAG	.		0.547	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082	
MAP4K4	9448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	102493544	102493544	+	Silent	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:102493544C>A	ENST00000347699.4	+	24	2886	c.2886C>A	c.(2884-2886)atC>atA	p.I962I	MAP4K4_ENST00000456652.1_Silent_p.I761I|MAP4K4_ENST00000302217.5_Silent_p.I765I|MAP4K4_ENST00000324219.4_Silent_p.I1043I|MAP4K4_ENST00000350878.4_Silent_p.I1002I|MAP4K4_ENST00000425019.1_Silent_p.I995I|MAP4K4_ENST00000350198.4_Silent_p.I881I|MAP4K4_ENST00000413150.2_Silent_p.I877I	NM_001242559.1|NM_145687.3	NP_001229488.1|NP_663720.1	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	962	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.|Mediates interaction with RAP2A.				intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of JNK cascade (GO:0046328)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						ATCCTCTTATCAACCGAAGAC	0.453																																					p.I996I		.											.	MAP4K4-547	0			c.C2988A						.						180.0	175.0	177.0					2																	102493544		2019	4184	6203	SO:0001819	synonymous_variant	9448	exon25			TCTTATCAACCGA	AF096300	CCDS56130.1, CCDS74546.1	2q11.2-q12	2011-06-09			ENSG00000071054	ENSG00000071054		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6866	protein-coding gene	gene with protein product	"""HPK/GCK-like kinase"", ""hepatocyte progenitor kinase-like/germinal center kinase-like kinase"""	604666				9890973, 9734811, 9135144	Standard	NM_004834		Approved	HGK, NIK, FLH21957	uc002tbf.3	O95819	OTTHUMG00000155394	ENST00000347699.4:c.2886C>A	2.37:g.102493544C>A		Somatic	54	0		WXS	Illumina HiSeq	Phase_I	94	54	NM_145686	0	0	44	99	55	O75172|Q9NST7	Silent	SNP	ENST00000347699.4	37	CCDS56130.1	.	.	.	.	.	.	.	.	.	.	C	9.992	1.230967	0.22542	.	.	ENSG00000071054	ENST00000421882	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	T	0.60314	0.2259	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57974	-0.7718	4	.	.	.	.	8.8578	0.35238	0.15:0.7754:0.0:0.0745	.	.	.	.	K	779	.	.	Q	+	1	0	MAP4K4	101859976	0.991000	0.36638	1.000000	0.80357	0.976000	0.68499	0.386000	0.20702	2.717000	0.92951	0.655000	0.94253	CAA	.		0.453	MAP4K4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339839.1	NM_004834	
UPP2	151531	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	158971732	158971732	+	Silent	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:158971732A>G	ENST00000005756.4	+	3	494	c.300A>G	c.(298-300)agA>agG	p.R100R	UPP2_ENST00000409859.4_Silent_p.R157R|UPP2_ENST00000605860.1_Silent_p.R157R|UPP2_ENST00000460456.1_Intron	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	100					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	GGACAGACAGATACTGTATGT	0.458																																					p.R157R		.											.	UPP2-90	0			c.A471G						.						105.0	104.0	104.0					2																	158971732		2203	4300	6503	SO:0001819	synonymous_variant	151531	exon5			AGACAGATACTGT	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.300A>G	2.37:g.158971732A>G		Somatic	140	0		WXS	Illumina HiSeq	Phase_I	131	39	NM_001135098	0	0	0	0	0	B3KV87	Silent	SNP	ENST00000005756.4	37	CCDS2207.1																																																																																			.		0.458	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355	
TTN	7273	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	2	179468605	179468605	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:179468605A>G	ENST00000591111.1	-	232	50110	c.49886T>C	c.(49885-49887)aTa>aCa	p.I16629T	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.I18270T|TTN_ENST00000342992.6_Missense_Mutation_p.I15702T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I9397T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I9330T|TTN_ENST00000460472.2_Missense_Mutation_p.I9205T			Q8WZ42	TITIN_HUMAN	titin	16629			I -> M. {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)			ATACTTACATATGGGATCTCC	0.398																																					p.I18270T		.											.	TTN-636	0			c.T54809C						.						65.0	62.0	63.0					2																	179468605		1886	4096	5982	SO:0001583	missense	7273	exon282			TTACATATGGGAT	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.49886T>C	2.37:g.179468605A>G	ENSP00000465570:p.Ile16629Thr	Somatic	105	0		WXS	Illumina HiSeq	Phase_I	78	28	NM_001267550	0	0	3	4	1	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		.	.	.	.	.	.	.	.	.	.	A	10.22	1.289353	0.23478	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.06	4.85	0.62838	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36276	0.0961	L	0.52759	1.655	0.33898	D	0.638219	B;B;B;B	0.32245	0.361;0.361;0.361;0.361	B;B;B;B	0.24155	0.051;0.051;0.051;0.051	T	0.55490	-0.8133	9	0.87932	D	0	.	12.2928	0.54827	0.8732:0.0:0.0:0.1268	.	9205;9330;9397;16629	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	15702;9205;9397;9330;9205	ENSP00000343764:I15702T;ENSP00000434586:I9205T;ENSP00000340554:I9397T;ENSP00000352154:I9330T	ENSP00000340554:I9397T	I	-	2	0	TTN	179176850	1.000000	0.71417	0.999000	0.59377	0.935000	0.57460	1.934000	0.40163	2.323000	0.78572	0.528000	0.53228	ATA	.		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
RPL37A	6168	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	217364692	217364692	+	Silent	SNP	T	T	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:217364692T>A	ENST00000491306.1	+	3	839	c.153T>A	c.(151-153)gcT>gcA	p.A51A	RPL37A_ENST00000456586.1_Silent_p.A27A|AC098820.3_ENST00000438978.1_RNA|AC098820.3_ENST00000453157.1_RNA|RPL37A_ENST00000427280.2_Silent_p.A27A|RPL37A_ENST00000446558.1_Silent_p.A51A|RPL37A_ENST00000600880.1_Silent_p.A51A|RPL37A_ENST00000598925.1_Silent_p.A27A|RPL37A_ENST00000441179.2_Silent_p.A27A	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN	ribosomal protein L37a	51					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGACGAGCTGTGGGGATCT	0.443																																					p.A51A		.											.	RPL37A-91	0			c.T153A						.						129.0	125.0	126.0					2																	217364692		2203	4300	6503	SO:0001819	synonymous_variant	6168	exon3			ACGAGCTGTGGGG		CCDS2404.1	2q35	2011-04-06			ENSG00000197756	ENSG00000197756		"""L ribosomal proteins"""	10348	protein-coding gene	gene with protein product		613314				1437567	Standard	NM_000998		Approved	L37A	uc002vgf.3	P61513	OTTHUMG00000133052	ENST00000491306.1:c.153T>A	2.37:g.217364692T>A		Somatic	159	0		WXS	Illumina HiSeq	Phase_I	177	92	NM_000998	0	0	1049	3198	2149	P12751|Q6FGF5	Silent	SNP	ENST00000491306.1	37	CCDS2404.1																																																																																			.		0.443	RPL37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256665.2	NM_000998	
SP110	3431	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	231077477	231077477	+	Splice_Site	SNP	T	T	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr2:231077477T>G	ENST00000358662.4	-	4	660	c.582A>C	c.(580-582)tcA>tcC	p.S194S	SP110_ENST00000392048.3_Splice_Site_p.S194S|SP110_ENST00000540870.1_Splice_Site_p.S200S|SP110_ENST00000258381.6_Splice_Site_p.S194S|SP110_ENST00000258382.5_Splice_Site_p.S194S|SP110_ENST00000486146.2_5'UTR|SP110_ENST00000338556.3_5'UTR	NM_004509.3	NP_004500	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	194					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GTTTCTCACCTGAAGTGCTTC	0.532																																					p.S200S		.											.	SP110-155	0			c.A600C						.						222.0	217.0	219.0					2																	231077477		2203	4300	6503	SO:0001630	splice_region_variant	3431	exon5			CTCACCTGAAGTG	L22343	CCDS2474.1, CCDS2475.1, CCDS2476.1, CCDS54435.1	2q37.1	2014-09-17	2001-12-19	2001-12-20	ENSG00000135899	ENSG00000135899			5401	protein-coding gene	gene with protein product		604457	"""interferon-induced protein 41, 30kD"""	IFI41, IFI75		7693701, 10388521	Standard	NM_080424		Approved		uc002vqg.3	Q9HB58	OTTHUMG00000133204	ENST00000358662.4:c.583+1A>C	2.37:g.231077477T>G		Somatic	352	2		WXS	Illumina HiSeq	Phase_I	274	147	NM_001185015	0	0	0	0	0	B4DVI4|F5H1M1|Q14976|Q14977|Q53TG2|Q8WUZ6|Q9HCT8	Silent	SNP	ENST00000358662.4	37	CCDS2474.1																																																																																			.		0.532	SP110-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000332414.1	NM_080424	Silent
MMP24	10893	broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	33851638	33851638	+	Missense_Mutation	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr20:33851638C>A	ENST00000246186.6	+	5	947	c.862C>A	c.(862-864)Ctg>Atg	p.L288M	MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	288					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GGGCCACGCGCTGGGACTGGA	0.627																																					p.L288M													.	.	0			c.C862A						.						27.0	28.0	27.0					20																	33851638		2203	4300	6503	SO:0001583	missense	10893	exon5			CACGCGCTGGGAC	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.862C>A	20.37:g.33851638C>A	ENSP00000246186:p.Leu288Met	Somatic	24	0		WXS	Illumina HiSeq	Phase_I	12	7	NM_006690	0	0	25	84	59	B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.583351	0.65992	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.55588	0.51	5.05	4.03	0.46877	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000003	T	0.79305	0.4423	H	0.97365	3.99	0.51482	D	0.999929	D	0.76494	0.999	D	0.76071	0.987	D	0.83575	0.0114	10	0.87932	D	0	.	9.0992	0.36658	0.0:0.8266:0.0:0.1734	.	288	Q9Y5R2	MMP24_HUMAN	M	288;236	ENSP00000246186:L288M	ENSP00000246186:L288M	L	+	1	2	MMP24	33315054	0.934000	0.31675	0.984000	0.44739	0.932000	0.56968	1.902000	0.39848	2.606000	0.88127	0.655000	0.94253	CTG	.		0.627	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690	
EPB41L1	2036	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	34800245	34800245	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr20:34800245A>G	ENST00000338074.2	+	16	2292	c.2131A>G	c.(2131-2133)Att>Gtt	p.I711V	EPB41L1_ENST00000373941.1_Missense_Mutation_p.I711V|EPB41L1_ENST00000479336.1_3'UTR|EPB41L1_ENST00000441639.1_Missense_Mutation_p.I637V|EPB41L1_ENST00000202028.5_Missense_Mutation_p.I637V|EPB41L1_ENST00000373946.3_Missense_Mutation_p.I531V|EPB41L1_ENST00000373950.2_Missense_Mutation_p.I602V	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	711					cortical actin cytoskeleton organization (GO:0030866)|synaptic transmission (GO:0007268)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					TAGAAAGAAGATTGAGCCGGA	0.493																																					p.I711V		.											.	EPB41L1-93	0			c.A2131G						.						88.0	79.0	82.0					20																	34800245		2203	4300	6503	SO:0001583	missense	2036	exon17			AAGAAGATTGAGC	AB002336	CCDS13271.1, CCDS13272.1, CCDS58771.1	20q11.2-q12	2003-03-17			ENSG00000088367	ENSG00000088367			3378	protein-coding gene	gene with protein product		602879				9570967, 9828140	Standard	NM_012156		Approved	KIAA0338	uc002xfb.3	Q9H4G0	OTTHUMG00000032378	ENST00000338074.2:c.2131A>G	20.37:g.34800245A>G	ENSP00000337168:p.Ile711Val	Somatic	93	0		WXS	Illumina HiSeq	Phase_I	95	33	NM_001258329	0	0	182	286	104	O15046|Q4VXM6|Q4VXM7|Q4VXM8|Q4VXN4|Q6ZT61|Q8IUU7|Q96CV5|Q96L65	Missense_Mutation	SNP	ENST00000338074.2	37	CCDS13271.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.050564	0.55218	.	.	ENSG00000088367	ENST00000202028;ENST00000373950;ENST00000397315;ENST00000373951;ENST00000441639;ENST00000373946;ENST00000338074;ENST00000373941;ENST00000454226	D;D;D;D;D;D	0.83755	-1.76;-1.59;-1.76;-1.66;-1.66;-1.62	5.78	4.61	0.57282	.	.	.	.	.	T	0.71099	0.3300	N	0.24115	0.695	0.23391	N	0.997771	B;B;B;B;B;B	0.22983	0.078;0.01;0.047;0.004;0.007;0.0	B;B;B;B;B;B	0.21917	0.018;0.004;0.037;0.004;0.002;0.001	T	0.56786	-0.7921	9	0.24483	T	0.36	.	9.5214	0.39138	0.8228:0.1772:0.0:0.0	.	711;711;531;602;602;637	B7Z653;Q9H4G0;Q9H4G0-4;Q9H4G0-3;B3KUB6;Q9H4G0-2	.;E41L1_HUMAN;.;.;.;.	V	637;602;711;602;637;531;711;711;72	ENSP00000202028:I637V;ENSP00000363061:I602V;ENSP00000399214:I637V;ENSP00000363057:I531V;ENSP00000337168:I711V;ENSP00000363052:I711V	ENSP00000202028:I637V	I	+	1	0	EPB41L1	34263659	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.624000	0.37018	2.333000	0.79357	0.533000	0.62120	ATT	.		0.493	EPB41L1-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078978.3	NM_012156	
NPEPL1	79716	hgsc.bcm.edu;broad.mit.edu	37	20	57276200	57276200	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr20:57276200A>G	ENST00000356091.6	+	6	1096	c.808A>G	c.(808-810)Agc>Ggc	p.S270G	NPEPL1_ENST00000525817.1_Missense_Mutation_p.S222G|STX16-NPEPL1_ENST00000530122.1_3'UTR|NPEPL1_ENST00000525967.1_Missense_Mutation_p.S242G	NM_024663.3	NP_078939.3	Q8NDH3	PEPL1_HUMAN	aminopeptidase-like 1	270						cytoplasm (GO:0005737)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			TGGAGGCCTCAGCATCAAAGG	0.687																																					p.S270G		.											.	.	0			c.A808G						.						24.0	24.0	24.0					20																	57276200		2040	4191	6231	SO:0001583	missense	79716	exon6			GGCCTCAGCATCA	AK021645	CCDS46621.1, CCDS56200.1, CCDS56201.1	20q13.32	2008-07-02			ENSG00000215440	ENSG00000215440			16244	protein-coding gene	gene with protein product						14702039	Standard	NM_001204872		Approved	FLJ11583, bA261P9.2	uc010zzs.1	Q8NDH3	OTTHUMG00000033060	ENST00000356091.6:c.808A>G	20.37:g.57276200A>G	ENSP00000348395:p.Ser270Gly	Somatic	19	0		WXS	Illumina HiSeq	Phase_I	9	4	NM_024663	0	0	0	0	0	A6NGZ0|B4DMW7|B7ZBN0|E9PN47|G5EA34|Q53G37|Q5W083|Q8TF28|Q8WUI2|Q9H1T6|Q9HAI5	Missense_Mutation	SNP	ENST00000356091.6	37	CCDS46621.1	.	.	.	.	.	.	.	.	.	.	A	22.1	4.241327	0.79912	.	.	ENSG00000215440	ENST00000525967;ENST00000525817;ENST00000356091	T;T;T	0.52295	0.67;0.67;0.67	5.01	5.01	0.66863	Peptidase M17, leucyl aminopeptidase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78413	0.4279	H	0.97265	3.97	0.58432	D	0.999999	D;D;D;D	0.76494	0.986;0.982;0.999;0.992	D;D;D;D	0.77557	0.951;0.918;0.99;0.966	D	0.85396	0.1128	10	0.72032	D	0.01	-41.2309	12.4648	0.55751	1.0:0.0:0.0:0.0	.	270;222;242;270	Q8NDH3;G5EA34;E9PN47;Q8NDH3-3	PEPL1_HUMAN;.;.;.	G	242;222;270	ENSP00000434810:S242G;ENSP00000437112:S222G;ENSP00000348395:S270G	ENSP00000348395:S270G	S	+	1	0	NPEPL1	56709607	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.869000	0.92326	1.875000	0.54330	0.477000	0.44152	AGC	.		0.687	NPEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080402.6	NM_024663	
SETD4	54093	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	21	37410517	37410517	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr21:37410517C>G	ENST00000399215.1	-	9	2491	c.1119G>C	c.(1117-1119)aaG>aaC	p.K373N	SETD4_ENST00000332131.4_Missense_Mutation_p.K373N|SETD4_ENST00000399212.1_Missense_Mutation_p.K349N|SETD4_ENST00000481477.1_5'UTR|AP000688.1_ENST00000600312.1_Intron			Q9NVD3	SETD4_HUMAN	SET domain containing 4	373				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898). {ECO:0000305}.			methyltransferase activity (GO:0008168)			autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CCAAACTTGTCTTCTCATTCG	0.353																																					p.K373N		.											.	SETD4-154	0			c.G1119C						.						179.0	173.0	175.0					21																	37410517		2202	4300	6502	SO:0001583	missense	54093	exon10			ACTTGTCTTCTCA	AK001660	CCDS13640.1, CCDS42923.1, CCDS74791.1, CCDS74792.1	21q22.13	2006-02-15	2006-02-15	2006-02-15	ENSG00000185917	ENSG00000185917			1258	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 27"", ""chromosome 21 open reading frame 18"""	C21orf27, C21orf18			Standard	XM_005261000		Approved		uc021wiy.1	Q9NVD3	OTTHUMG00000086483	ENST00000399215.1:c.1119G>C	21.37:g.37410517C>G	ENSP00000382163:p.Lys373Asn	Somatic	138	0		WXS	Illumina HiSeq	Phase_I	133	62	NM_017438	0	0	7	9	2	B4DT14|D3DSG2|D3DSG4|Q8NE19|Q9BU46	Missense_Mutation	SNP	ENST00000399215.1	37	CCDS13640.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278952	0.59758	.	.	ENSG00000185917	ENST00000399215;ENST00000399212;ENST00000332131	T;T;T	0.18174	2.23;2.23;2.23	5.79	3.99	0.46301	Rubisco LS methyltransferase, substrate-binding domain (1);	0.633406	0.17880	N	0.158893	T	0.19046	0.0457	L	0.57536	1.79	0.80722	D	1	P;P	0.39920	0.646;0.695	B;B	0.40134	0.214;0.32	T	0.02307	-1.1179	10	0.18276	T	0.48	-14.3562	12.2959	0.54847	0.0:0.8635:0.0:0.1365	.	349;373	Q9NVD3-3;Q9NVD3	.;SETD4_HUMAN	N	373;349;373	ENSP00000382163:K373N;ENSP00000382161:K349N;ENSP00000329189:K373N	ENSP00000329189:K373N	K	-	3	2	SETD4	36332387	0.996000	0.38824	0.885000	0.34714	0.989000	0.77384	2.608000	0.46308	0.799000	0.34018	0.561000	0.74099	AAG	.		0.353	SETD4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194456.1	NM_017438	
CERK	64781	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	47108141	47108141	+	Missense_Mutation	SNP	T	T	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr22:47108141T>G	ENST00000216264.8	-	4	541	c.429A>C	c.(427-429)aaA>aaC	p.K143N	CERK_ENST00000541677.1_5'UTR	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	143	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCCTTGTCCTTTTCCTCCAA	0.388																																					p.K143N		.											.	CERK-251	0			c.A429C						.						241.0	179.0	200.0					22																	47108141		2203	4300	6503	SO:0001583	missense	64781	exon4			TTGTCCTTTTCCT	AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.429A>C	22.37:g.47108141T>G	ENSP00000216264:p.Lys143Asn	Somatic	54	0		WXS	Illumina HiSeq	Phase_I	66	26	NM_022766	0	0	15	30	15	A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	ENST00000216264.8	37	CCDS14077.1	.	.	.	.	.	.	.	.	.	.	T	14.94	2.686429	0.47991	.	.	ENSG00000100422	ENST00000216264	T	0.15487	2.42	5.2	-1.83	0.07833	Diacylglycerol kinase, catalytic domain (3);	0.109682	0.64402	D	0.000007	T	0.43366	0.1244	M	0.89785	3.06	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.49409	-0.8943	10	0.72032	D	0.01	-14.0309	12.0935	0.53742	0.0:0.6281:0.0:0.3719	.	143	Q8TCT0	CERK1_HUMAN	N	143	ENSP00000216264:K143N	ENSP00000216264:K143N	K	-	3	2	CERK	45486805	0.957000	0.32711	0.303000	0.25071	0.328000	0.28507	1.095000	0.30964	-0.493000	0.06678	0.460000	0.39030	AAA	.		0.388	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317924.2	NM_022766	
NBEAL2	23218	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	47049869	47049869	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:47049869G>A	ENST00000450053.3	+	51	7995	c.7816G>A	c.(7816-7818)Gca>Aca	p.A2606T	NBEAL2_ENST00000383740.2_Missense_Mutation_p.A855T|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A2422T	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2606					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TTTCCACCTGGCATTGGGGTC	0.597																																					p.A2606T		.											.	NBEAL2-69	0			c.G7816A						.						49.0	48.0	48.0					3																	47049869		2037	4171	6208	SO:0001583	missense	23218	exon51			CACCTGGCATTGG	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.7816G>A	3.37:g.47049869G>A	ENSP00000415034:p.Ala2606Thr	Somatic	33	0		WXS	Illumina HiSeq	Phase_I	43	25	NM_015175	0	0	17	51	34	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.62|16.62|16.62	3.173416|3.173416|3.173416	0.57584|0.57584|0.57584	.|.|.	.|.|.	ENSG00000160796|ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000383740;ENST00000450053;ENST00000445550|ENST00000443829|ENST00000416683	T;T;T|.|.	0.20069|.|.	2.1;2.1;2.1|.|.	5.15|5.15|5.15	5.15|5.15|5.15	0.70609|0.70609|0.70609	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);|.|.	0.716976|.|.	0.13800|.|.	N|.|.	0.361890|.|.	T|T|.	0.71558|0.71558|.	0.3354|0.3354|.	M|M|M	0.61703|0.61703|0.61703	1.905|1.905|1.905	0.38807|0.38807|0.38807	D|D|D	0.955327|0.955327|0.955327	B;B|.|.	0.26845|.|.	0.161;0.007|.|.	B;B|.|.	0.23852|.|.	0.049;0.01|.|.	T|T|.	0.71686|0.71686|.	-0.4518|-0.4518|.	10|5|.	0.33141|.|.	T|.|.	0.24|.|.	.|.|.	16.1634|16.1634|16.1634	0.81734|0.81734|0.81734	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	2422;2606|.|.	Q6ZNJ1-2;Q6ZNJ1|.|.	.;NBEL2_HUMAN|.|.	T|D|X	2422;855;2606;549|944|1893	ENSP00000292309:A2422T;ENSP00000373246:A855T;ENSP00000415034:A2606T|.|.	ENSP00000292309:A2422T|.|.	A|G|W	+|+|+	1|2|3	0|0|0	NBEAL2|NBEAL2|NBEAL2	47024873|47024873|47024873	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.988000|0.988000|0.988000	0.46212|0.46212|0.46212	0.695000|0.695000|0.695000	0.40330|0.40330|0.40330	4.551000|4.551000|4.551000	0.60740|0.60740|0.60740	2.669000|2.669000|2.669000	0.90835|0.90835|0.90835	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GCA|GGC|TGG	.		0.597	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
NICN1	84276	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	49463424	49463424	+	Silent	SNP	C	C	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:49463424C>G	ENST00000273598.3	-	3	401	c.315G>C	c.(313-315)ctG>ctC	p.L105L	NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Intron|NICN1-AS1_ENST00000424915.1_RNA	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	105						microtubule (GO:0005874)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCATGTCACACAGCATCTGAC	0.567																																					p.L105L		.											.	NICN1-90	0			c.G315C						.						87.0	65.0	72.0					3																	49463424		2203	4300	6503	SO:0001819	synonymous_variant	84276	exon3			GTCACACAGCATC	AJ299740	CCDS2798.1	3p21.31	2008-07-18			ENSG00000145029	ENSG00000145029			18317	protein-coding gene	gene with protein product		611516				12392556	Standard	NM_032316		Approved	MGC12936	uc003cwz.1	Q9BSH3	OTTHUMG00000156848	ENST00000273598.3:c.315G>C	3.37:g.49463424C>G		Somatic	54	0		WXS	Illumina HiSeq	Phase_I	41	13	NM_032316	0	0	2	3	1	Q8IZQ2	Silent	SNP	ENST00000273598.3	37	CCDS2798.1																																																																																			.		0.567	NICN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346224.3	NM_032316	
SFMBT1	51460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52988412	52988412	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:52988412A>G	ENST00000394752.3	-	3	426	c.44T>C	c.(43-45)aTg>aCg	p.M15T	SFMBT1_ENST00000470575.1_5'UTR|SFMBT1_ENST00000394750.1_Missense_Mutation_p.M15T|SFMBT1_ENST00000358080.2_Missense_Mutation_p.M15T|SFMBT1_ENST00000296295.6_Missense_Mutation_p.M15T	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	15					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TACCTCTTCCATACCAGAGCC	0.333																																					p.M15T		.											.	SFMBT1-91	0			c.T44C						.						111.0	116.0	114.0					3																	52988412		2203	4300	6503	SO:0001583	missense	51460	exon3			TCTTCCATACCAG	AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.44T>C	3.37:g.52988412A>G	ENSP00000378235:p.Met15Thr	Somatic	223	0		WXS	Illumina HiSeq	Phase_I	226	135	NM_016329	0	0	8	28	20	Q402F7|Q96C73|Q9Y4Q9	Missense_Mutation	SNP	ENST00000394752.3	37	CCDS2867.1	.	.	.	.	.	.	.	.	.	.	A	11.09	1.536575	0.27475	.	.	ENSG00000163935	ENST00000394752;ENST00000358080;ENST00000296295;ENST00000394750;ENST00000482396;ENST00000483069;ENST00000497586	T;T;T;T;T;T	0.40756	2.62;2.62;2.62;2.62;2.03;1.02	5.7	5.7	0.88788	.	0.544403	0.20072	N	0.099858	T	0.31827	0.0809	N	0.24115	0.695	0.28463	N	0.915804	B	0.02656	0.0	B	0.17722	0.019	T	0.13335	-1.0513	10	0.24483	T	0.36	.	15.6127	0.76740	1.0:0.0:0.0:0.0	.	15	Q9UHJ3	SMBT1_HUMAN	T	15	ENSP00000378235:M15T;ENSP00000350789:M15T;ENSP00000296295:M15T;ENSP00000378233:M15T;ENSP00000418860:M15T;ENSP00000418950:M15T	ENSP00000296295:M15T	M	-	2	0	SFMBT1	52963452	1.000000	0.71417	0.990000	0.47175	0.489000	0.33432	5.542000	0.67218	2.164000	0.68074	0.477000	0.44152	ATG	.		0.333	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3	NM_016329	
LRIG1	26018	broad.mit.edu	37	3	66460690	66460690	+	Silent	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:66460690C>A	ENST00000273261.3	-	7	1322	c.798G>T	c.(796-798)ctG>ctT	p.L266L	LRIG1_ENST00000383703.3_Silent_p.L266L	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	266					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TGTTGTACTCCAGGTGCCTGC	0.567																																					p.L266L													.	LRIG1-230	0			c.G798T						.						146.0	136.0	139.0					3																	66460690		2203	4300	6503	SO:0001819	synonymous_variant	26018	exon7			GTACTCCAGGTGC	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.798G>T	3.37:g.66460690C>A		Somatic	250	0		WXS	Illumina HiSeq	Phase_I	275	8	NM_015541	0	0	0	0	0	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	CCDS33783.1																																																																																			.		0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
ZBTB11	27107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	101390027	101390027	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:101390027A>G	ENST00000312938.4	-	3	1305	c.725T>C	c.(724-726)cTt>cCt	p.L242P	ZBTB11_ENST00000461821.1_3'UTR	NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	242	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCAATAAAAAGATCTCGAAA	0.363																																					p.L242P		.											.	ZBTB11-91	0			c.T725C						.						73.0	73.0	73.0					3																	101390027		2203	4300	6503	SO:0001583	missense	27107	exon3			ATAAAAAGATCTC	U69274	CCDS2943.1	3q12.3	2013-01-09			ENSG00000066422	ENSG00000066422		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16740	protein-coding gene	gene with protein product							Standard	NM_014415		Approved	ZNF-U69274, ZNF913	uc003dve.4	O95625	OTTHUMG00000159133	ENST00000312938.4:c.725T>C	3.37:g.101390027A>G	ENSP00000326200:p.Leu242Pro	Somatic	82	0		WXS	Illumina HiSeq	Phase_I	101	29	NM_014415	0	0	13	19	6	Q2NKP9	Missense_Mutation	SNP	ENST00000312938.4	37	CCDS2943.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495399	0.85069	.	.	ENSG00000066422	ENST00000312938	T	0.73681	-0.77	5.48	5.48	0.80851	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.88948	0.6576	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91470	0.5196	10	0.87932	D	0	-12.2938	15.5729	0.76354	1.0:0.0:0.0:0.0	.	242	O95625	ZBT11_HUMAN	P	242	ENSP00000326200:L242P	ENSP00000326200:L242P	L	-	2	0	ZBTB11	102872717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.092000	0.63282	0.533000	0.62120	CTT	.		0.363	ZBTB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353441.2	NM_014415	
SLCO2A1	6578	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	133692538	133692538	+	Silent	SNP	G	G	C	rs150677069		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:133692538G>C	ENST00000310926.4	-	3	639	c.366C>G	c.(364-366)tcC>tcG	p.S122S	SLCO2A1_ENST00000478651.1_5'UTR|SLCO2A1_ENST00000493729.1_Silent_p.S122S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	122					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	GGTAGGGCTCGGAGAGGAAGT	0.582																																					p.S122S		.											.	SLCO2A1-90	0			c.C366G						.						87.0	73.0	78.0					3																	133692538		2203	4300	6503	SO:0001819	synonymous_variant	6578	exon3			GGGCTCGGAGAGG		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.366C>G	3.37:g.133692538G>C		Somatic	43	0		WXS	Illumina HiSeq	Phase_I	34	9	NM_005630	0	0	141	195	54	Q86V98|Q8IUN2	Silent	SNP	ENST00000310926.4	37	CCDS3084.1																																																																																			G|1.000;A|0.000		0.582	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630	
ATP13A3	79572	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	194146121	194146121	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr3:194146121G>A	ENST00000439040.1	-	30	4054	c.3263C>T	c.(3262-3264)gCa>gTa	p.A1088V	ATP13A3_ENST00000256031.4_Missense_Mutation_p.A1088V			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1088						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAAGGCAATTGCCACTATGAG	0.353																																					p.A1088V		.											.	ATP13A3-69	0			c.C3263T						.						97.0	90.0	93.0					3																	194146121		1821	4076	5897	SO:0001583	missense	79572	exon29			GCAATTGCCACTA	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3263C>T	3.37:g.194146121G>A	ENSP00000416508:p.Ala1088Val	Somatic	69	0		WXS	Illumina HiSeq	Phase_I	101	54	NM_024524	0	0	26	109	83	Q8NC11|Q96KS1	Missense_Mutation	SNP	ENST00000439040.1	37	CCDS43187.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207024	0.95033	.	.	ENSG00000133657	ENST00000439040;ENST00000256031	T;T	0.74947	-0.89;-0.89	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.82630	2.6	0.80722	D	1	D	0.65815	0.995	D	0.66847	0.947	D	0.87360	0.2343	10	0.49607	T	0.09	-22.6896	19.4395	0.94813	0.0:0.0:1.0:0.0	.	1088	Q9H7F0	AT133_HUMAN	V	1088	ENSP00000416508:A1088V;ENSP00000256031:A1088V	ENSP00000256031:A1088V	A	-	2	0	ATP13A3	195627410	1.000000	0.71417	0.989000	0.46669	0.980000	0.70556	9.476000	0.97823	2.591000	0.87537	0.591000	0.81541	GCA	.		0.353	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524	
ZBTB49	166793	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	4322599	4322599	+	Silent	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr4:4322599C>A	ENST00000337872.4	+	8	1975	c.1854C>A	c.(1852-1854)tcC>tcA	p.S618S	ZBTB49_ENST00000355834.3_Silent_p.S496S|ZBTB49_ENST00000538529.1_Silent_p.S101S|RP11-265O12.1_ENST00000509015.1_lincRNA	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	618					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACTCTTTCTCCCAAGACACGT	0.547																																					p.S618S		.											.	ZBTB49-92	0			c.C1854A						.						54.0	51.0	52.0					4																	4322599		2203	4300	6503	SO:0001819	synonymous_variant	166793	exon8			TTTCTCCCAAGAC	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1854C>A	4.37:g.4322599C>A		Somatic	62	0		WXS	Illumina HiSeq	Phase_I	39	21	NM_145291	0	0	0	2	2	Q59FJ4|Q5EBN0|Q8TB80	Silent	SNP	ENST00000337872.4	37	CCDS3375.1																																																																																			.		0.547	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291	
CCKAR	886	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	26483517	26483517	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr4:26483517C>T	ENST00000295589.3	-	5	1224	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	344					axonogenesis (GO:0007409)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|feeding behavior (GO:0007631)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cholecystokinin receptor activity (GO:0004951)			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGCGGCGCTCTGCGGAGGCG	0.592																																					p.E344K		.											.	CCKAR-523	0			c.G1030A						.						103.0	95.0	98.0					4																	26483517		2203	4300	6503	SO:0001583	missense	886	exon5			GGCGCTCTGCGGA	L19315	CCDS3438.1	4p15.2	2013-09-20			ENSG00000163394	ENSG00000163394		"""GPCR / Class A : Cholecystokinin receptors"""	1570	protein-coding gene	gene with protein product		118444					Standard	NM_000730		Approved		uc003gse.1	P32238	OTTHUMG00000128567	ENST00000295589.3:c.1030G>A	4.37:g.26483517C>T	ENSP00000295589:p.Glu344Lys	Somatic	120	0		WXS	Illumina HiSeq	Phase_I	77	34	NM_000730	0	0	1	1	0	B2R9Z5	Missense_Mutation	SNP	ENST00000295589.3	37	CCDS3438.1	.	.	.	.	.	.	.	.	.	.	C	6.038	0.375400	0.11409	.	.	ENSG00000163394	ENST00000295589	T	0.72051	-0.62	5.29	3.53	0.40419	GPCR, rhodopsin-like superfamily (1);	0.163417	0.52532	D	0.000076	T	0.49029	0.1533	N	0.11698	0.16	0.28765	N	0.900671	B	0.14012	0.009	B	0.17098	0.017	T	0.37731	-0.9693	10	0.23302	T	0.38	.	9.6172	0.39698	0.0:0.6564:0.2699:0.0737	.	344	P32238	CCKAR_HUMAN	K	344	ENSP00000295589:E344K	ENSP00000295589:E344K	E	-	1	0	CCKAR	26092615	0.886000	0.30341	0.983000	0.44433	0.058000	0.15608	1.765000	0.38481	1.205000	0.43262	0.563000	0.77884	GAG	.		0.592	CCKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250418.2		
ANXA3	306	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	79516549	79516549	+	Silent	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr4:79516549A>G	ENST00000264908.6	+	8	877	c.498A>G	c.(496-498)gaA>gaG	p.E166E	ANXA3_ENST00000512884.1_Silent_p.E127E|ANXA3_ENST00000503570.2_Silent_p.E127E	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	166					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GAAGAGATGAAAGTCTGAAAG	0.443																																					p.E166E	GBM(2;126 157 27790 28920 42492)	.											.	ANXA3-90	0			c.A498G						.						184.0	186.0	186.0					4																	79516549		2203	4300	6503	SO:0001819	synonymous_variant	306	exon8			AGATGAAAGTCTG	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.498A>G	4.37:g.79516549A>G		Somatic	265	0		WXS	Illumina HiSeq	Phase_I	259	95	NM_005139	0	0	0	0	0	B2R9W6|Q6LET2	Silent	SNP	ENST00000264908.6	37	CCDS3584.1																																																																																			.		0.443	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139	
PLRG1	5356	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	4	155470082	155470082	+	Silent	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr4:155470082T>C	ENST00000499023.2	-	2	141	c.15A>G	c.(13-15)gtA>gtG	p.V5V	PLRG1_ENST00000302078.5_Silent_p.V5V|PLRG1_ENST00000393905.2_Silent_p.V5V	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	5					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|protein localization to nucleus (GO:0034504)|regulation of RNA biosynthetic process (GO:2001141)|signal transduction (GO:0007165)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AATGTTTCTGTACCTCCTAAA	0.353																																					p.V5V		.											.	PLRG1-90	0			c.A15G						.						76.0	71.0	73.0					4																	155470082		2203	4300	6503	SO:0001819	synonymous_variant	5356	exon2			TTTCTGTACCTCC	AF044333	CCDS34083.1, CCDS56341.1	4q31.2-q32.1	2013-01-10	2011-05-19		ENSG00000171566	ENSG00000171566		"""WD repeat domain containing"""	9089	protein-coding gene	gene with protein product	"""transport and golgi organization 4 homolog (Drosophila)"""	605961	"""pleiotropic regulator 1 (PRL1, Arabidopsis homolog)"", ""pleiotropic regulator 1 (PRL1 homolog, Arabidopsis)"""				Standard	NM_002669		Approved	PRL1, Prp46, PRPF46, Cwc1, TANGO4	uc003iny.3	O43660	OTTHUMG00000161411	ENST00000499023.2:c.15A>G	4.37:g.155470082T>C		Somatic	31	0		WXS	Illumina HiSeq	Phase_I	29	11	NM_002669	0	0	0	0	0	B3KMK4|Q3KQY5|Q8WUD8	Silent	SNP	ENST00000499023.2	37	CCDS34083.1																																																																																			.		0.353	PLRG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364824.1	NM_002669	
SLC6A18	348932	broad.mit.edu	37	5	1225707	1225707	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:1225707G>C	ENST00000324642.3	+	1	238	c.115G>C	c.(115-117)Ggg>Cgg	p.G39R	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G39R	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	39					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTGGGACTGGGGAACATTTG	0.642																																					p.G39R													.	SLC6A18-91	0			c.G115C						.						115.0	103.0	107.0					5																	1225707		2203	4300	6503	SO:0001583	missense	348932	exon1			GGACTGGGGAACA	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.115G>C	5.37:g.1225707G>C	ENSP00000323549:p.Gly39Arg	Somatic	137	0		WXS	Illumina HiSeq	Phase_I	52	25	NM_182632	0	0	0	0	0		Missense_Mutation	SNP	ENST00000324642.3	37	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367247	0.61513	.	.	ENSG00000164363	ENST00000324642;ENST00000296821	D;D	0.82433	-1.61;-1.61	4.12	4.12	0.48240	.	0.000000	0.64402	D	0.000001	D	0.93452	0.7911	H	0.94734	3.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95588	0.8652	10	0.87932	D	0	.	16.7383	0.85453	0.0:0.0:1.0:0.0	.	39	Q96N87	S6A18_HUMAN	R	39	ENSP00000323549:G39R;ENSP00000296821:G39R	ENSP00000296821:G39R	G	+	1	0	SLC6A18	1278707	1.000000	0.71417	1.000000	0.80357	0.162000	0.22319	9.544000	0.98092	2.008000	0.58898	0.313000	0.20887	GGG	.		0.642	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632	
TMEM167A	153339	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	82357708	82357708	+	Missense_Mutation	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:82357708A>G	ENST00000502346.1	-	3	308	c.136T>C	c.(136-138)Tgt>Cgt	p.C46R	TMEM167A_ENST00000511450.1_5'UTR|SCARNA18_ENST00000459004.1_RNA	NM_174909.4	NP_777569.1	Q8TBQ9	KISHA_HUMAN	transmembrane protein 167A	46						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2						ATTCTGGCACACTTCCAAAAT	0.313																																					p.C46R		.											.	TMEM167A-90	0			c.T136C						.						58.0	57.0	58.0					5																	82357708		2203	4299	6502	SO:0001583	missense	153339	exon3			TGGCACACTTCCA	BC107575, AK055070	CCDS34198.1	5q14.2	2008-06-06	2008-06-06	2008-06-06	ENSG00000174695	ENSG00000174695			28330	protein-coding gene	gene with protein product			"""transmembrane protein 167"""	TMEM167		1316117	Standard	NM_174909		Approved	FLJ30508, MGC23909	uc003khx.4	Q8TBQ9	OTTHUMG00000162570	ENST00000502346.1:c.136T>C	5.37:g.82357708A>G	ENSP00000424707:p.Cys46Arg	Somatic	67	1		WXS	Illumina HiSeq	Phase_I	61	31	NM_174909	0	0	0	0	0	Q0P692	Missense_Mutation	SNP	ENST00000502346.1	37	CCDS34198.1	.	.	.	.	.	.	.	.	.	.	A	14.30	2.492910	0.44352	.	.	ENSG00000174695	ENST00000502346	.	.	.	6.06	6.06	0.98353	.	0.094778	0.64402	D	0.000001	T	0.52451	0.1735	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44997	-0.9291	8	0.25106	T	0.35	.	16.2741	0.82634	1.0:0.0:0.0:0.0	.	46	Q8TBQ9	KISHA_HUMAN	R	46	.	ENSP00000424707:C46R	C	-	1	0	TMEM167A	82393464	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.722000	0.84778	2.322000	0.78497	0.528000	0.53228	TGT	.		0.313	TMEM167A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369631.2	NM_174909	
PCSK1	5122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	95728748	95728748	+	Missense_Mutation	SNP	C	C	T	rs140941383		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:95728748C>T	ENST00000311106.3	-	14	2456	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.R693Q|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	740					cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|metabolic process (GO:0008152)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of insulin secretion (GO:0050796)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTGAAGCAGCCGGTCGTCTCT	0.398																																					p.R740Q		.											.	PCSK1-92	0			c.G2219A						.	C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	163.0	170.0	168.0		2219,2078,1289	5.1	1.0	5	dbSNP_134	168	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	PCSK1	NM_000439.4,NM_001177875.1,NM_001177876.1	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	740/754,693/707,430/444	95728748	1,13005	2203	4300	6503	SO:0001583	missense	5122	exon14			AGCAGCCGGTCGT		CCDS4081.1, CCDS54881.1	5q15-q21	2008-07-18			ENSG00000175426	ENSG00000175426			8743	protein-coding gene	gene with protein product	"""prohormone convertase 3"", ""prohormone convertase 1"", ""neuroendocrine convertase 1"", ""proprotein convertase 1"""	162150		NEC1		1765368	Standard	NM_000439		Approved	PC1, PC3, SPC3	uc003kls.2	P29120	OTTHUMG00000122089	ENST00000311106.3:c.2219G>A	5.37:g.95728748C>T	ENSP00000308024:p.Arg740Gln	Somatic	306	1		WXS	Illumina HiSeq	Phase_I	255	109	NM_000439	0	0	0	0	0	B7Z8T7|E9PHA1|P78478|Q92532	Missense_Mutation	SNP	ENST00000311106.3	37	CCDS4081.1	.	.	.	.	.	.	.	.	.	.	C	34	5.313465	0.95655	0.0	1.16E-4	ENSG00000175426	ENST00000311106;ENST00000508626	T;T	0.71341	-0.41;-0.56	6.03	5.11	0.69529	Prohormone convertase enzyme (1);	0.058685	0.64402	D	0.000001	T	0.74222	0.3688	L	0.34521	1.04	0.49130	D	0.999758	D;D	0.71674	0.997;0.998	P;P	0.59825	0.864;0.834	T	0.76364	-0.2986	10	0.72032	D	0.01	-22.6652	15.7754	0.78209	0.1369:0.8631:0.0:0.0	.	693;740	E9PHA1;P29120	.;NEC1_HUMAN	Q	740;693	ENSP00000308024:R740Q;ENSP00000421600:R693Q	ENSP00000308024:R740Q	R	-	2	0	PCSK1	95754504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.354000	0.59417	2.861000	0.98227	0.655000	0.94253	CGG	C|1.000;T|0.000		0.398	PCSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242851.1	NM_000439	
CHD1	1105	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	5	98236974	98236974	+	Missense_Mutation	SNP	T	T	C	rs370850474		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:98236974T>C	ENST00000284049.3	-	5	652	c.503A>G	c.(502-504)gAa>gGa	p.E168G		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	168					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	CTCTCTCTCTTCTTCAGATTC	0.358																																					p.E168G		.											.	CHD1-274	0			c.A503G						.	T	GLY/GLU	0,4406		0,0,2203	137.0	133.0	134.0		503	5.6	1.0	5		134	4,8596	3.7+/-12.6	0,4,4296	no	missense	CHD1	NM_001270.2	98	0,4,6499	CC,CT,TT		0.0465,0.0,0.0308	benign	168/1711	98236974	4,13002	2203	4300	6503	SO:0001583	missense	1105	exon5			CTCTCTTCTTCAG	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.503A>G	5.37:g.98236974T>C	ENSP00000284049:p.Glu168Gly	Somatic	149	0		WXS	Illumina HiSeq	Phase_I	144	63	NM_001270	0	0	8	12	4	Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	13.94	2.388330	0.42308	0.0	4.65E-4	ENSG00000153922	ENST00000284049;ENST00000540681	D	0.90385	-2.66	5.62	5.62	0.85841	.	0.000000	0.34507	U	0.003918	D	0.82986	0.5156	N	0.14661	0.345	0.51012	D	0.999905	B	0.16603	0.018	B	0.16722	0.016	T	0.78352	-0.2237	10	0.34782	T	0.22	.	14.6925	0.69096	0.0:0.0:0.0:1.0	.	168	O14646	CHD1_HUMAN	G	168	ENSP00000284049:E168G	ENSP00000284049:E168G	E	-	2	0	CHD1	98264874	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.936000	0.48971	2.254000	0.74563	0.528000	0.53228	GAA	.		0.358	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	NM_001270	
SLC25A46	91137	hgsc.bcm.edu	37	5	110075085	110075085	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:110075085G>C	ENST00000355943.3	+	1	391	c.265G>C	c.(265-267)Gtg>Ctg	p.V89L	SLC25A46_ENST00000504098.1_5'Flank|SLC25A46_ENST00000513807.1_Intron|SLC25A46_ENST00000509442.2_Intron|SLC25A46_ENST00000447245.2_Missense_Mutation_p.V89L	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	89					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CGGCGGCAGTGTGCAGGGGCA	0.701																																					p.V89L		.											.	SLC25A46-68	0			c.G265C						.						8.0	10.0	9.0					5																	110075085		2151	4219	6370	SO:0001583	missense	91137	exon1			GGCAGTGTGCAGG	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.265G>C	5.37:g.110075085G>C	ENSP00000348211:p.Val89Leu	Somatic	6	1		WXS	Illumina HiSeq	Phase_I	6	3	NM_138773	1	0	28	61	32	A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Missense_Mutation	SNP	ENST00000355943.3	37	CCDS4100.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953454	0.34471	.	.	ENSG00000164209	ENST00000355943;ENST00000447245	D;D	0.82711	-1.64;-1.64	4.89	1.97	0.26223	.	1.857370	0.02892	N	0.134256	T	0.66577	0.2803	N	0.08118	0	0.21416	N	0.999695	B	0.06786	0.001	B	0.04013	0.001	T	0.54193	-0.8330	10	0.15952	T	0.53	4.363	5.3308	0.15932	0.0812:0.147:0.6292:0.1426	.	89	Q96AG3	S2546_HUMAN	L	89	ENSP00000348211:V89L;ENSP00000399717:V89L	ENSP00000348211:V89L	V	+	1	0	SLC25A46	110102984	0.890000	0.30428	0.002000	0.10522	0.597000	0.36814	3.981000	0.56902	0.199000	0.20427	0.655000	0.94253	GTG	.		0.701	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5	NM_138773	
HDAC3	8841	ucsc.edu	37	5	141007714	141007714	+	Silent	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:141007714C>A	ENST00000305264.3	-	9	811	c.732G>T	c.(730-732)gtG>gtT	p.V244V	AC008781.7_ENST00000422040.2_RNA|HDAC3_ENST00000469207.1_5'Flank	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	244	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GGTAGAAGTCCACTACCTGGT	0.557																																					p.V244V													.	HDAC3-227	0			c.G732T						.						94.0	79.0	84.0					5																	141007714		2203	4300	6503	SO:0001819	synonymous_variant	8841	exon9			GAAGTCCACTACC	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.732G>T	5.37:g.141007714C>A		Somatic	60	0		WXS	Illumina HiSeq		43	5	NM_003883	0	0	42	42	0	D3DQE1|O43268|Q9UEI5|Q9UEV0	Silent	SNP	ENST00000305264.3	37	CCDS4264.1																																																																																			.		0.557	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883	
GTF2H4	2968	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	30877829	30877829	+	Silent	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:30877829C>T	ENST00000259895.4	+	4	586	c.363C>T	c.(361-363)gcC>gcT	p.A121A	GTF2H4_ENST00000376316.2_Silent_p.A121A|RN7SL175P_ENST00000580375.1_RNA|GTF2H4_ENST00000539324.1_Silent_p.A65A	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	121					7-methylguanosine mRNA capping (GO:0006370)|ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	core TFIIH complex (GO:0000439)|holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)	ATP-dependent DNA helicase activity (GO:0004003)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCCGCATTGCCCTTCTGGGTG	0.582								Nucleotide excision repair (NER)																													p.A121A		.											.	GTF2H4-661	0			c.C363T						.						114.0	130.0	124.0					6																	30877829		1510	2708	4218	SO:0001819	synonymous_variant	2968	exon4			CATTGCCCTTCTG	Y07595	CCDS34386.1	6p21.3	2012-11-05	2002-08-29		ENSG00000213780	ENSG00000213780		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	4658	protein-coding gene	gene with protein product		601760	"""general transcription factor IIH, polypeptide 4 (52kD subunit)"""			9118947	Standard	NM_001517		Approved	TFB2, TFIIH, P52	uc003nsa.1	Q92759	OTTHUMG00000031043	ENST00000259895.4:c.363C>T	6.37:g.30877829C>T		Somatic	243	1		WXS	Illumina HiSeq	Phase_I	133	57	NM_001517	0	0	0	0	0	B4DTJ5|Q76KU4	Silent	SNP	ENST00000259895.4	37	CCDS34386.1																																																																																			.		0.582	GTF2H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076044.3	NM_001517	
VARS2	57176	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	30883015	30883015	+	Splice_Site	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:30883015G>A	ENST00000321897.5	+	2	915		c.e2+1		VARS2_ENST00000542001.1_Splice_Site|VARS2_ENST00000541562.1_Splice_Site|VARS2_ENST00000416670.2_Splice_Site			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GAAAAGAAAGGTAAGTAGAAT	0.453																																					.		.											.	VARS2-26	0			c.283+1G>A						.						85.0	88.0	87.0					6																	30883015		2203	4300	6503	SO:0001630	splice_region_variant	57176	exon3			AGAAAGGTAAGTA	AB067472	CCDS34387.1, CCDS54980.1	6p21.33	2012-10-26	2012-10-26	2007-02-23	ENSG00000137411	ENSG00000137411	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	21642	protein-coding gene	gene with protein product	"""valine tRNA ligase 2, mitochondrial"""	612802	"""valyl-tRNA synthetase 2-like"", ""valyl-tRNA synthetase like"", ""valyl-tRNA synthetase 2, mitochondrial (putative)"""	VARS2L, VARSL		1898367, 11572484, 18400783	Standard	NM_001167734		Approved	DKFZP434L1435, KIAA1885, G7a	uc011dmz.2	Q5ST30	OTTHUMG00000031263	ENST00000321897.5:c.283+1G>A	6.37:g.30883015G>A		Somatic	164	1		WXS	Illumina HiSeq	Phase_I	97	50	NM_020442	0	0	0	0	0	A2ABL7|B4DET4|B4E3P5|F5GXJ0|F5H323|Q2M2A0|Q59FI1|Q5SQ96|Q5SS98|Q6DKJ5|Q6ZV24|Q96GN2|Q96H77|Q96Q02|Q9H6R2|Q9UFH7	Splice_Site	SNP	ENST00000321897.5	37	CCDS34387.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.467888	0.63625	.	.	ENSG00000137411	ENST00000321897;ENST00000416670;ENST00000428017;ENST00000413959;ENST00000541562;ENST00000421263	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.759	0.51892	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	VARS2	30990994	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	6.795000	0.75140	2.200000	0.70718	0.557000	0.71058	.	.		0.453	VARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076566.2	NM_020442	Intron
VARS	7407	ucsc.edu	37	6	31745374	31745374	+	Silent	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:31745374C>T	ENST00000375663.3	-	30	4232	c.3792G>A	c.(3790-3792)ctG>ctA	p.L1264L	VWA7_ENST00000467576.1_5'Flank|VWA7_ENST00000447450.1_5'Flank|VWA7_ENST00000375688.4_5'Flank|VWA7_ENST00000375686.3_5'Flank|Y_RNA_ENST00000364685.1_RNA|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1264					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TGGTGGATCACAGCATCTTCT	0.567																																					p.L1264L													.	VARS-93	0			c.G3792A						.						142.0	110.0	121.0					6																	31745374		2203	4300	6503	SO:0001819	synonymous_variant	7407	exon30			GGATCACAGCATC	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.3792G>A	6.37:g.31745374C>T		Somatic	42	0		WXS	Illumina HiSeq		37	4	NM_006295	0	0	61	61	0	B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Silent	SNP	ENST00000375663.3	37	CCDS34412.1																																																																																			.		0.567	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295	
HLA-DQA2	3118	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	32714066	32714066	+	Silent	SNP	C	C	T	rs572758897		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:32714066C>T	ENST00000374940.3	+	4	765	c.663C>T	c.(661-663)tgC>tgT	p.C221C		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	221					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)|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)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CTTTGGTCTGCGCCCTGGGGT	0.552													.|||	1	0.000199681	0.0	0.0	5008	,	,		21667	0.0		0.0	False		,,,				2504	0.001				p.C221C		.											.	HLA-DQA2-90	0			c.C663T						.						163.0	160.0	161.0					6																	32714066		1511	2709	4220	SO:0001819	synonymous_variant	3118	exon4			GGTCTGCGCCCTG		CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.663C>T	6.37:g.32714066C>T		Somatic	217	1		WXS	Illumina HiSeq	Phase_I	154	73	NM_020056	0	0	2	2	0	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	ENST00000374940.3	37	CCDS4753.1																																																																																			C|1.000;T|0.000		0.552	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076179.2	NM_020056	
SCUBE3	222663	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	35199528	35199528	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:35199528G>T	ENST00000274938.7	+	4	361	c.361G>T	c.(361-363)Ggc>Tgc	p.G121C	SCUBE3_ENST00000394681.1_Missense_Mutation_p.G121C	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CGAGGGCAACGGCGGCTGTCA	0.582																																					p.G121C													.	SCUBE3-91	0			c.G361T						.						87.0	69.0	75.0					6																	35199528		2203	4300	6503	SO:0001583	missense	222663	exon4			GGCAACGGCGGCT	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.361G>T	6.37:g.35199528G>T	ENSP00000274938:p.Gly121Cys	Somatic	105	0		WXS	Illumina HiSeq	Phase_I	39	18	NM_152753	0	0	1	1	0		Missense_Mutation	SNP	ENST00000274938.7	37	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.514824	0.85389	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	D;D	0.98437	-4.93;-4.93	4.37	4.37	0.52481	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98798	0.9595	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99853	1.1074	10	0.87932	D	0	.	17.4734	0.87653	0.0:0.0:1.0:0.0	.	121;121	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	C	121	ENSP00000378174:G121C;ENSP00000274938:G121C	ENSP00000274938:G121C	G	+	1	0	SCUBE3	35307506	1.000000	0.71417	0.161000	0.22692	0.928000	0.56348	9.601000	0.98297	2.432000	0.82394	0.655000	0.94253	GGC	.		0.582	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753	
CDC5L	988	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	44390515	44390515	+	Missense_Mutation	SNP	A	A	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:44390515A>T	ENST00000371477.3	+	10	1672	c.1373A>T	c.(1372-1374)gAc>gTc	p.D458V		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	458	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGAATGGCAGACTATAGTGAT	0.383																																					p.D458V		.											.	CDC5L-229	0			c.A1373T						.						134.0	135.0	135.0					6																	44390515		2203	4300	6503	SO:0001583	missense	988	exon10			TGGCAGACTATAG	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1373A>T	6.37:g.44390515A>T	ENSP00000360532:p.Asp458Val	Somatic	205	2		WXS	Illumina HiSeq	Phase_I	162	64	NM_001253	0	0	12	27	15	Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	A	13.78	2.340499	0.41498	.	.	ENSG00000096401	ENST00000371477	T	0.36157	1.27	5.85	4.67	0.58626	.	0.102528	0.64402	D	0.000004	T	0.09642	0.0237	N	0.12182	0.205	0.80722	D	1	B	0.32573	0.376	B	0.30029	0.11	T	0.10917	-1.0609	10	0.24483	T	0.36	-19.9685	12.1682	0.54141	0.9321:0.0:0.0679:0.0	.	458	Q99459	CDC5L_HUMAN	V	458	ENSP00000360532:D458V	ENSP00000360532:D458V	D	+	2	0	CDC5L	44498493	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.966000	0.63715	2.234000	0.73211	0.460000	0.39030	GAC	.		0.383	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1		
RCAN2	10231	hgsc.bcm.edu	37	6	46216582	46216582	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:46216582G>C	ENST00000330430.6	-	2	327	c.139C>G	c.(139-141)Cta>Gta	p.L47V	RCAN2_ENST00000371374.1_Missense_Mutation_p.L93V|RCAN2_ENST00000306764.7_Missense_Mutation_p.L93V|RCAN2_ENST00000405162.1_Missense_Mutation_p.L93V	NM_005822.3	NP_005813.2	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	47					calcineurin-NFAT signaling cascade (GO:0033173)|locomotion involved in locomotory behavior (GO:0031987)|response to oxidative stress (GO:0006979)|short-term memory (GO:0007614)		nucleotide binding (GO:0000166)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTCTTAAATAGCTGGAACGTC	0.418																																					p.L93V		.											.	RCAN2-90	0			c.C277G						.						116.0	102.0	106.0					6																	46216582		1849	4110	5959	SO:0001583	missense	10231	exon3			TAAATAGCTGGAA	D83407	CCDS43469.1, CCDS59023.1	6p12.3	2008-10-31	2007-06-26	2007-06-26	ENSG00000172348	ENSG00000172348			3041	protein-coding gene	gene with protein product		604876	"""Down syndrome critical region gene 1-like 1"""	DSCR1L1		8662924	Standard	NM_001251973		Approved	ZAKI-4	uc003oyc.2	Q14206	OTTHUMG00000014782	ENST00000330430.6:c.139C>G	6.37:g.46216582G>C	ENSP00000329454:p.Leu47Val	Somatic	46	0		WXS	Illumina HiSeq	Phase_I	47	3	NM_001251973	0	0	19	19	0	A6ND07|B3KR46|Q5VWF7|Q5VWF8|Q8N116	Missense_Mutation	SNP	ENST00000330430.6	37	CCDS43469.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207295	0.58343	.	.	ENSG00000172348	ENST00000330430;ENST00000371374;ENST00000306764;ENST00000405162	.	.	.	6.03	6.03	0.97812	Nucleotide-binding, alpha-beta plait (1);	0.085482	0.49916	D	0.000134	T	0.54334	0.1852	L	0.52364	1.645	0.47511	D	0.999447	P;P	0.50819	0.746;0.939	B;P	0.47626	0.384;0.552	T	0.59053	-0.7526	9	0.87932	D	0	-0.7537	19.545	0.95291	0.0:0.0:1.0:0.0	.	93;47	Q14206-2;Q14206	.;RCAN2_HUMAN	V	47;93;93;93	.	ENSP00000305223:L93V	L	-	1	2	RCAN2	46324541	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	1.764000	0.38471	2.861000	0.98227	0.655000	0.94253	CTA	.		0.418	RCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040782.1		
PLEKHG1	57480	broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	151151821	151151821	+	Missense_Mutation	SNP	C	C	T	rs138970683		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:151151821C>T	ENST00000358517.2	+	15	1785	c.1574C>T	c.(1573-1575)gCg>gTg	p.A525V	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.A525V			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	525							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GTGCTTCGAGCGGGTGGAGCT	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		19977	0.0		0.001	False		,,,				2504	0.0				p.A525V													.	PLEKHG1-92	0			c.C1574T						.	C	VAL/ALA	0,4406		0,0,2203	92.0	83.0	86.0		1574	3.6	0.0	6	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense	PLEKHG1	NM_001029884.1	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	525/1386	151151821	1,13005	2203	4300	6503	SO:0001583	missense	57480	exon16			TTCGAGCGGGTGG	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.1574C>T	6.37:g.151151821C>T	ENSP00000351318:p.Ala525Val	Somatic	62	0		WXS	Illumina HiSeq	Phase_I	35	11	NM_001029884	0	0	3	4	1	Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	CCDS34552.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	7.688	0.690379	0.15039	0.0	1.16E-4	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	T;T	0.59502	0.26;0.26	5.4	3.57	0.40892	.	0.325353	0.36665	N	0.002464	T	0.17152	0.0412	N	0.22421	0.69	0.09310	N	1	P;P;P	0.41188	0.542;0.741;0.741	B;B;B	0.23275	0.045;0.044;0.044	T	0.03077	-1.1075	10	0.66056	D	0.02	.	10.0015	0.41931	0.0721:0.274:0.6539:0.0	.	332;525;525	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	V	525	ENSP00000356297:A525V;ENSP00000351318:A525V	ENSP00000351318:A525V	A	+	2	0	PLEKHG1	151193514	1.000000	0.71417	0.010000	0.14722	0.002000	0.02628	4.677000	0.61634	0.616000	0.30141	-0.321000	0.08615	GCG	C|0.999;T|0.000		0.547	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		
SYNE1	23345	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	152671451	152671451	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:152671451T>C	ENST00000367255.5	-	72	12354	c.11753A>G	c.(11752-11754)gAg>gGg	p.E3918G	SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.E3918G|SYNE1_ENST00000341594.5_Missense_Mutation_p.E3842G|SYNE1_ENST00000448038.1_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3918					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GACTTTCGCCTCCAGACTGAA	0.473										HNSCC(10;0.0054)																											p.E3918G		.											.	SYNE1-607	0			c.A11753G						.						102.0	93.0	96.0					6																	152671451		2203	4300	6503	SO:0001583	missense	23345	exon72			TTCGCCTCCAGAC	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.11753A>G	6.37:g.152671451T>C	ENSP00000356224:p.Glu3918Gly	Somatic	155	0		WXS	Illumina HiSeq	Phase_I	85	23	NM_182961	0	0	8	12	4	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	14.89	2.671137	0.47781	.	.	ENSG00000131018	ENST00000367255;ENST00000265368;ENST00000341594	T;T;T	0.41400	1.0;1.0;1.0	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000009	T	0.51041	0.1651	L	0.55481	1.735	0.80722	D	1	D;D;D	0.63046	0.992;0.992;0.992	D;D;D	0.64687	0.928;0.928;0.928	T	0.54879	-0.8227	10	0.72032	D	0.01	.	16.3943	0.83563	0.0:0.0:0.0:1.0	.	3918;3918;3918	B7ZBC3;Q8NF91;E7EQI5	.;SYNE1_HUMAN;.	G	3918;3918;3842	ENSP00000356224:E3918G;ENSP00000265368:E3918G;ENSP00000341887:E3842G	ENSP00000265368:E3918G	E	-	2	0	SYNE1	152713144	0.857000	0.29778	0.800000	0.32199	0.939000	0.58152	2.153000	0.42282	2.281000	0.76405	0.533000	0.62120	GAG	.		0.473	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
ARID1B	57492	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	157527600	157527600	+	Silent	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:157527600G>A	ENST00000350026.5	+	19	5287	c.5286G>A	c.(5284-5286)aaG>aaA	p.K1762K	ARID1B_ENST00000346085.5_Silent_p.K1775K|ARID1B_ENST00000275248.4_Silent_p.K1757K|ARID1B_ENST00000367148.1_Silent_p.K1815K	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1762					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGACCCAAAGGAGAAGCCCA	0.517																																					p.K1775K		.											.	ARID1B-154	0			c.G5325A						.						60.0	61.0	61.0					6																	157527600		2203	4296	6499	SO:0001819	synonymous_variant	57492	exon20			CCCAAAGGAGAAG	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.5286G>A	6.37:g.157527600G>A		Somatic	133	0		WXS	Illumina HiSeq	Phase_I	114	43	NM_020732	0	0	44	72	28	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Silent	SNP	ENST00000350026.5	37	CCDS5251.2																																																																																			.		0.517	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
ERV3-1	2086	bcgsc.ca	37	7	64452749	64452749	+	Missense_Mutation	SNP	G	G	T	rs367626165		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr7:64452749G>T	ENST00000394323.2	-	2	1156	c.656C>A	c.(655-657)cCg>cAg	p.P219Q	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	219						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)		p.P219Q(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						tgcccctagcggtgcttttaa	0.443																																					p.P219Q													.	.	1	Substitution - Missense(1)	lung(1)	c.C656A						.						153.0	155.0	154.0					7																	64452749		2023	4218	6241	SO:0001583	missense	2086	exon2			CCTAGCGGTGCTT	AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.656C>A	7.37:g.64452749G>T	ENSP00000391594:p.Pro219Gln	Somatic	373	1		WXS	Illumina HiSeq	Phase_1	592	19	NM_001007253	0	0	25	25	0		Missense_Mutation	SNP	ENST00000394323.2	37	CCDS47595.1	.	.	.	.	.	.	.	.	.	.	.	5.118	0.207418	0.09704	.	.	ENSG00000213462	ENST00000394323	T	0.12147	2.71	0.109	0.109	0.14578	.	.	.	.	.	T	0.06188	0.0160	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.04013	0.001	T	0.35822	-0.9773	8	0.45353	T	0.12	.	.	.	.	.	219	Q14264	ENR1_HUMAN	Q	219	ENSP00000391594:P219Q	ENSP00000391594:P219Q	P	-	2	0	ERV3-1	64090184	0.467000	0.25831	0.270000	0.24601	0.274000	0.26718	0.230000	0.17852	0.181000	0.19994	0.184000	0.17185	CCG	.		0.443	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381468.1	NM_001007253	
POR	5447	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	75617587	75617587	+	IGR	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr7:75617587G>T	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	CGTTGTTGATGAGGATGCTCT	0.657																																					.													.	.	0			.						.						49.0	52.0	51.0					7																	75617587		1983	4150	6133	SO:0001628	intergenic_variant	83862	.			GTTGATGAGGATG	AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75617587G>T		Somatic	97	0		WXS	Illumina HiSeq	Phase_I	99	40	.	0	0	208	375	167	Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Silent	SNP	ENST00000461988.1	37	CCDS5579.1																																																																																			.		0.657	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941	
ZAN	7455	broad.mit.edu;ucsc.edu;bcgsc.ca	37	7	100349824	100349824	+	RNA	SNP	C	C	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr7:100349824C>A	ENST00000348028.3	+	0	2261				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCCACCATCTCCATGGAAGAG	0.512																																					.													.	ZAN-142	0			.						.						190.0	208.0	202.0					7																	100349824		1861	4094	5955			7455	.			CCATCTCCATGGA	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100349824C>A		Somatic	140	1		WXS	Illumina HiSeq	Phase_I	106	47	.	0	0	0	0	0	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37		.	.	.	.	.	.	.	.	.	.	c	9.555	1.116910	0.20795	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63744	-0.06;-0.06;-0.06	3.59	1.69	0.24217	.	.	.	.	.	T	0.37625	0.1010	N	0.08118	0	0.18873	N	0.999981	P;B	0.35628	0.513;0.379	B;B	0.33890	0.172;0.083	T	0.21965	-1.0230	9	0.59425	D	0.04	.	6.1291	0.20195	0.1862:0.7055:0.0:0.1082	.	699;699	F5H0T8;Q9Y493	.;ZAN_HUMAN	Y	699	ENSP00000445943:S699Y;ENSP00000445091:S699Y;ENSP00000444427:S699Y	ENSP00000423579:S699Y	S	+	2	0	ZAN	100187760	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.482000	0.06544	0.265000	0.21872	-0.516000	0.04426	TCC	.		0.512	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386	
EPHB6	2051	broad.mit.edu	37	7	142566068	142566068	+	Missense_Mutation	SNP	G	G	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr7:142566068G>C	ENST00000392957.2	+	14	2775	c.1988G>C	c.(1987-1989)cGg>cCg	p.R663P	EPHB6_ENST00000442129.1_Missense_Mutation_p.R663P|EPHB6_ENST00000411471.2_Missense_Mutation_p.R386P	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	663						extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)	p.R648L(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GAACTTGCCCGGGAAGTCGAT	0.577																																					p.R663P													.	EPHB6-1489	1	Substitution - Missense(1)	lung(1)	c.G1988C						.						103.0	97.0	99.0					7																	142566068		2203	4300	6503	SO:0001583	missense	2051	exon14			TTGCCCGGGAAGT	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.1988G>C	7.37:g.142566068G>C	ENSP00000376684:p.Arg663Pro	Somatic	108	0		WXS	Illumina HiSeq	Phase_I	108	3	NM_004445	0	0	16	16	0	A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Missense_Mutation	SNP	ENST00000392957.2	37	CCDS5873.2	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496909	0.44352	.	.	ENSG00000106123	ENST00000392957;ENST00000442129;ENST00000411471	T;T;T	0.14640	2.49;2.49;2.49	4.21	4.21	0.49690	Protein kinase-like domain (1);	0.000000	0.39020	N	0.001483	T	0.12347	0.0300	L	0.52206	1.635	0.53005	D	0.999968	B;B	0.21071	0.051;0.032	B;B	0.16722	0.012;0.016	T	0.08411	-1.0723	10	0.87932	D	0	.	5.7674	0.18233	0.2173:0.0:0.7827:0.0	.	663;386	O15197;O15197-2	EPHB6_HUMAN;.	P	663;663;386	ENSP00000376684:R663P;ENSP00000410789:R663P;ENSP00000409061:R386P	ENSP00000376684:R663P	R	+	2	0	EPHB6	142276190	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.245000	0.72398	2.204000	0.70986	0.561000	0.74099	CGG	.		0.577	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1		
ANGPT2	285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	6360731	6360731	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:6360731G>T	ENST00000325203.5	-	9	1856	c.1382C>A	c.(1381-1383)cCa>cAa	p.P461Q	ANGPT2_ENST00000415216.1_Missense_Mutation_p.P460Q|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Missense_Mutation_p.P409Q			O15123	ANGP2_HUMAN	angiopoietin 2	461	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CTGCCTCTGTGGATAGTACAT	0.463																																					p.P461Q		.											.	ANGPT2-91	0			c.C1382A						.						235.0	190.0	205.0					8																	6360731		2203	4300	6503	SO:0001583	missense	285	exon9			CTCTGTGGATAGT	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.1382C>A	8.37:g.6360731G>T	ENSP00000314897:p.Pro461Gln	Somatic	88	0		WXS	Illumina HiSeq	Phase_I	66	24	NM_001147	0	0	1	1	0	A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Missense_Mutation	SNP	ENST00000325203.5	37	CCDS5958.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.422644	0.43020	.	.	ENSG00000091879	ENST00000325203;ENST00000415216;ENST00000338312	T;T;T	0.75050	-0.9;-0.9;-0.9	6.17	6.17	0.99709	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.112483	0.64402	D	0.000006	T	0.57621	0.2066	N	0.10685	0.025	0.42845	D	0.994062	B;B;B	0.27229	0.069;0.069;0.172	B;B;B	0.25506	0.015;0.015;0.061	T	0.54761	-0.8245	10	0.22109	T	0.4	.	18.3732	0.90420	0.0:0.0:1.0:0.0	.	409;460;461	O15123-2;O15123-3;O15123	.;.;ANGP2_HUMAN	Q	461;460;409	ENSP00000314897:P461Q;ENSP00000400782:P460Q;ENSP00000343517:P409Q	ENSP00000314897:P461Q	P	-	2	0	ANGPT2	6348139	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.047000	0.57383	2.941000	0.99782	0.655000	0.94253	CCA	.		0.463	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147	
BIN3	55909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	22488017	22488017	+	Silent	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:22488017G>A	ENST00000276416.6	-	5	303	c.235C>T	c.(235-237)Ctg>Ttg	p.L79L	BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000519513.1_Silent_p.L25L|BIN3_ENST00000520292.1_Silent_p.L79L|BIN3_ENST00000399977.4_Silent_p.L31L	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	79	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				actin filament organization (GO:0007015)|barrier septum assembly (GO:0000917)|cytokinesis (GO:0000910)|myoblast migration involved in skeletal muscle regeneration (GO:0014839)|protein localization (GO:0008104)|regulation of lamellipodium assembly (GO:0010591)|skeletal muscle fiber development (GO:0048741)|unidimensional cell growth (GO:0009826)	actin filament (GO:0005884)|cytoplasm (GO:0005737)	cytoskeletal adaptor activity (GO:0008093)			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		ACCATGTTCAGAAGGTCCTGG	0.532																																					p.L79L		.											.	.	0			c.C235T						.						176.0	176.0	176.0					8																	22488017		2001	4169	6170	SO:0001819	synonymous_variant	55909	exon5			TGTTCAGAAGGTC		CCDS47825.1	8p21.2	2008-07-04			ENSG00000147439	ENSG00000147439			1054	protein-coding gene	gene with protein product		606396				16524918	Standard	NM_018688		Approved		uc003xcl.3	Q9NQY0	OTTHUMG00000163844	ENST00000276416.6:c.235C>T	8.37:g.22488017G>A		Somatic	289	0		WXS	Illumina HiSeq	Phase_I	165	65	NM_018688	0	0	37	59	22	Q9BVG2|Q9NVY9	Silent	SNP	ENST00000276416.6	37	CCDS47825.1																																																																																			.		0.532	BIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375895.1		
FABP12	646486	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	82441686	82441686	+	Missense_Mutation	SNP	C	C	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:82441686C>T	ENST00000360464.4	-	2	295	c.233G>A	c.(232-234)gGc>gAc	p.G78D	RP11-257P3.3_ENST00000523380.1_RNA|RP11-257P3.3_ENST00000518637.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	78							lipid binding (GO:0008289)|transporter activity (GO:0005215)			large_intestine(1)|lung(3)	4						TGTTTTGTGGCCACCTGGCGT	0.388																																					p.G78D		.											.	FABP12-46	0			c.G233A						.						160.0	154.0	156.0					8																	82441686		1870	4108	5978	SO:0001583	missense	646486	exon2			TTGTGGCCACCTG		CCDS47882.1	8q21.13	2013-03-01			ENSG00000197416	ENSG00000197416		"""Fatty acid binding protein family"""	34524	protein-coding gene	gene with protein product						18786628	Standard	NM_001105281		Approved		uc011lfp.2	A6NFH5	OTTHUMG00000164679	ENST00000360464.4:c.233G>A	8.37:g.82441686C>T	ENSP00000353650:p.Gly78Asp	Somatic	243	1		WXS	Illumina HiSeq	Phase_I	247	96	NM_001105281	0	0	0	0	0	B7SUN0	Missense_Mutation	SNP	ENST00000360464.4	37	CCDS47882.1	.	.	.	.	.	.	.	.	.	.	C	1.026	-0.683340	0.03353	.	.	ENSG00000197416	ENST00000360464	T	0.51071	0.72	4.84	0.778	0.18543	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.259107	0.39407	N	0.001371	T	0.31295	0.0792	N	0.16233	0.39	0.35132	D	0.768077	B	0.27823	0.19	B	0.42851	0.4	T	0.35226	-0.9797	10	0.02654	T	1	.	7.4582	0.27278	0.0:0.4913:0.0:0.5087	.	78	A6NFH5	FBP12_HUMAN	D	78	ENSP00000353650:G78D	ENSP00000353650:G78D	G	-	2	0	FABP12	82604241	0.916000	0.31088	0.038000	0.18304	0.032000	0.12392	1.342000	0.33919	0.261000	0.21753	-0.136000	0.14681	GGC	.		0.388	FABP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379720.1	NM_001105281	
RIPK2	8767	broad.mit.edu	37	8	90798839	90798839	+	Missense_Mutation	SNP	C	C	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:90798839C>G	ENST00000220751.4	+	9	1362	c.1048C>G	c.(1048-1050)Cag>Gag	p.Q350E	RIPK2_ENST00000540020.1_Missense_Mutation_p.Q213E	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	350					activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TGGATCCTCTCAGCTCCATGA	0.323																																					p.Q350E													.	RIPK2-523	0			c.C1048G						.						102.0	105.0	104.0					8																	90798839		2203	4300	6503	SO:0001583	missense	8767	exon9			TCCTCTCAGCTCC	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.1048C>G	8.37:g.90798839C>G	ENSP00000220751:p.Gln350Glu	Somatic	132	0		WXS	Illumina HiSeq	Phase_I	127	3	NM_003821	0	0	6	6	0	B7Z748|Q6UWF0	Missense_Mutation	SNP	ENST00000220751.4	37	CCDS6247.1	.	.	.	.	.	.	.	.	.	.	C	2.500	-0.315423	0.05422	.	.	ENSG00000104312	ENST00000220751;ENST00000540020	T;T	0.80480	-1.16;-1.38	5.51	3.64	0.41730	.	0.485483	0.14945	N	0.289268	T	0.61800	0.2376	N	0.19112	0.55	0.21020	N	0.999801	B	0.18166	0.026	B	0.15870	0.014	T	0.44937	-0.9295	10	0.02654	T	1	-1.3973	8.7026	0.34334	0.172:0.6623:0.1656:0.0	.	350	O43353	RIPK2_HUMAN	E	350;213	ENSP00000220751:Q350E;ENSP00000441623:Q213E	ENSP00000220751:Q350E	Q	+	1	0	RIPK2	90867980	0.808000	0.29022	0.817000	0.32601	0.824000	0.46624	1.183000	0.32041	0.815000	0.34398	0.557000	0.71058	CAG	.		0.323	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1		
PTPRD	5789	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	8471073	8471073	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:8471073T>C	ENST00000381196.4	-	28	3969	c.3426A>G	c.(3424-3426)atA>atG	p.I1142M	PTPRD_ENST00000397617.3_Missense_Mutation_p.I721M|PTPRD_ENST00000540109.1_Missense_Mutation_p.I1142M|PTPRD_ENST00000360074.4_Missense_Mutation_p.I1129M|PTPRD_ENST00000356435.5_Missense_Mutation_p.I1142M|PTPRD_ENST00000397611.3_Missense_Mutation_p.I728M|PTPRD_ENST00000537002.1_Missense_Mutation_p.I728M|PTPRD_ENST00000358503.5_Missense_Mutation_p.I1120M|PTPRD_ENST00000355233.5_Missense_Mutation_p.I731M|PTPRD_ENST00000397606.3_Missense_Mutation_p.I721M|PTPRD_ENST00000486161.1_Missense_Mutation_p.I731M	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1142					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GCACAATTATTATGTAGTAAC	0.393										TSP Lung(15;0.13)																											p.I1142M		.											.	PTPRD-912	0			c.A3426G						.						115.0	113.0	114.0					9																	8471073		2203	4300	6503	SO:0001583	missense	5789	exon31			AATTATTATGTAG	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3426A>G	9.37:g.8471073T>C	ENSP00000370593:p.Ile1142Met	Somatic	106	0		WXS	Illumina HiSeq	Phase_I	122	56	NM_002839	0	0	0	0	0	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	18.88	3.717523	0.68844	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17	5.72	4.56	0.56223	.	0.093861	0.64402	D	0.000001	T	0.70919	0.3279	M	0.69358	2.11	0.48762	D	0.999701	P;P;B;P;D;D;B;P;B	0.59357	0.835;0.868;0.435;0.855;0.985;0.973;0.035;0.736;0.097	P;P;B;B;D;P;B;B;B	0.77557	0.707;0.501;0.221;0.359;0.99;0.807;0.026;0.372;0.016	T	0.69924	-0.5013	9	.	.	.	.	9.7155	0.40272	0.286:0.0:0.0:0.714	.	721;726;731;731;728;728;1129;1142;1142	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	M	1142;1142;1129;1120;731;721;728;728;613;1142;731;721	ENSP00000370593:I1142M;ENSP00000348812:I1142M;ENSP00000353187:I1129M;ENSP00000351293:I1120M;ENSP00000347373:I731M;ENSP00000380741:I721M;ENSP00000380735:I728M;ENSP00000440515:I728M;ENSP00000438164:I1142M;ENSP00000417093:I731M;ENSP00000380731:I721M	.	I	-	3	3	PTPRD	8461073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.376000	0.44292	0.960000	0.38005	0.533000	0.62120	ATA	.		0.393	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
TOPORS	10210	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	32541815	32541815	+	Missense_Mutation	SNP	C	C	G	rs371709773		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:32541815C>G	ENST00000360538.2	-	3	2824	c.2708G>C	c.(2707-2709)cGt>cCt	p.R903P	TOPORS_ENST00000379858.1_Missense_Mutation_p.R838P	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	903	Interaction with UBE2I.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		AACTGGGGAACGTGAAGCATT	0.368																																					p.R903P		.											.	TOPORS-230	0			c.G2708C						.						195.0	186.0	189.0					9																	32541815		2203	4300	6503	SO:0001583	missense	10210	exon3			GGGGAACGTGAAG	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2708G>C	9.37:g.32541815C>G	ENSP00000353735:p.Arg903Pro	Somatic	240	0		WXS	Illumina HiSeq	Phase_I	184	71	NM_005802	0	0	13	25	12	O43273|Q6P987|Q9NS55|Q9UNR9	Missense_Mutation	SNP	ENST00000360538.2	37	CCDS6527.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457297	0.26161	.	.	ENSG00000197579	ENST00000360538;ENST00000379858	T;T	0.15017	2.46;2.47	5.81	0.86	0.19042	.	0.565792	0.16222	N	0.224014	T	0.07999	0.0200	N	0.14661	0.345	0.18873	N	0.999987	B	0.31730	0.337	B	0.26614	0.071	T	0.24621	-1.0155	10	0.52906	T	0.07	-1.0409	5.7492	0.18138	0.0:0.4435:0.1994:0.3571	.	903	Q9NS56	TOPRS_HUMAN	P	903;838	ENSP00000353735:R903P;ENSP00000369187:R838P	ENSP00000353735:R903P	R	-	2	0	TOPORS	32531815	0.000000	0.05858	0.985000	0.45067	0.702000	0.40608	-0.615000	0.05597	0.113000	0.18004	-0.133000	0.14855	CGT	.		0.368	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
VCP	7415	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	35061057	35061057	+	Silent	SNP	A	A	G			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:35061057A>G	ENST00000358901.6	-	11	2209	c.1314T>C	c.(1312-1314)gaT>gaC	p.D438D		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	438					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGACCTCGGCATCAATGGTCT	0.537																																					p.D438D		.											.	VCP-228	0			c.T1314C						.						229.0	212.0	218.0					9																	35061057		2203	4300	6503	SO:0001819	synonymous_variant	7415	exon11			CTCGGCATCAATG	AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.1314T>C	9.37:g.35061057A>G		Somatic	409	1		WXS	Illumina HiSeq	Phase_I	252	122	NM_007126	0	0	128	251	123	B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Silent	SNP	ENST00000358901.6	37	CCDS6573.1																																																																																			.		0.537	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052290.1	NM_007126	
TMEM2	23670	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	74313090	74313090	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:74313090G>T	ENST00000377044.4	-	20	3947	c.3408C>A	c.(3406-3408)agC>agA	p.S1136R	TMEM2_ENST00000396272.3_Missense_Mutation_p.S129R|TMEM2_ENST00000377066.5_Missense_Mutation_p.S1073R	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1136					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CATGCCTGTGGCTTTTGGCTT	0.413																																					p.S1136R		.											.	TMEM2-92	0			c.C3408A						.						155.0	125.0	135.0					9																	74313090		2203	4300	6503	SO:0001583	missense	23670	exon20			CCTGTGGCTTTTG		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.3408C>A	9.37:g.74313090G>T	ENSP00000366243:p.Ser1136Arg	Somatic	156	0		WXS	Illumina HiSeq	Phase_I	146	54	NM_013390	0	0	13	30	17	A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.118919	0.37436	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.42900	0.96;0.96;0.96	5.8	3.79	0.43588	.	0.343603	0.37053	N	0.002263	T	0.24160	0.0585	N	0.14661	0.345	0.27366	N	0.95581	B;B	0.12630	0.004;0.006	B;B	0.16722	0.007;0.016	T	0.17077	-1.0381	10	0.16420	T	0.52	.	10.9787	0.47482	0.2588:0.0:0.7412:0.0	.	1136;1073	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	R	1136;1073;129	ENSP00000366243:S1136R;ENSP00000366266:S1073R;ENSP00000379569:S129R	ENSP00000366243:S1136R	S	-	3	2	TMEM2	73502910	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	0.723000	0.25939	0.658000	0.30925	0.563000	0.77884	AGC	.		0.413	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390	
SPATA31D1	389763	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	84609482	84609482	+	Missense_Mutation	SNP	T	T	C			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:84609482T>C	ENST00000344803.2	+	4	4144	c.4097T>C	c.(4096-4098)aTa>aCa	p.I1366T		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	1366					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAACCCAGCATATCATATGAA	0.433																																					p.I1366T		.											.	.	0			c.T4097C						.						28.0	25.0	26.0					9																	84609482		1844	4078	5922	SO:0001583	missense	389763	exon4			CCAGCATATCATA		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.4097T>C	9.37:g.84609482T>C	ENSP00000341988:p.Ile1366Thr	Somatic	40	0		WXS	Illumina HiSeq	Phase_I	25	12	NM_001001670	0	0	0	0	0		Missense_Mutation	SNP	ENST00000344803.2	37	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	T	1.389	-0.581436	0.03854	.	.	ENSG00000214929	ENST00000344803	T	0.04706	3.57	3.23	-6.46	0.01908	.	.	.	.	.	T	0.01765	0.0056	N	0.12182	0.205	0.09310	N	1	B	0.20988	0.05	B	0.17722	0.019	T	0.45145	-0.9281	9	0.09084	T	0.74	5.4727	0.8658	0.01203	0.3696:0.2351:0.248:0.1473	.	1366	Q6ZQQ2	F75D1_HUMAN	T	1366	ENSP00000341988:I1366T	ENSP00000341988:I1366T	I	+	2	0	FAM75D1	83799302	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.596000	0.02091	-2.589000	0.00457	-0.313000	0.08912	ATA	.		0.433	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
PAPPA	5069	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	118949550	118949550	+	Missense_Mutation	SNP	G	G	T			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:118949550G>T	ENST00000328252.3	+	2	902	c.533G>T	c.(532-534)cGa>cTa	p.R178L	PAPPA_ENST00000534838.1_5'Flank	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	178					cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|female pregnancy (GO:0007565)|response to follicle-stimulating hormone (GO:0032354)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAGACAGACCGAGCCCGGCAA	0.532																																					p.R178L		.											.	PAPPA-77	0			c.G533T						.						84.0	79.0	81.0					9																	118949550		2203	4300	6503	SO:0001583	missense	5069	exon2			CAGACCGAGCCCG		CCDS6813.1	9q33.1	2014-03-05			ENSG00000182752	ENSG00000182752			8602	protein-coding gene	gene with protein product	"""insulin-like growth factor-dependent IGF binding protein-4 protease"", ""aspecific BCL2 ARE-binding protein 2"", ""differentially placenta 1 expressed protein"""	176385				7679961	Standard	NM_002581		Approved	PAPP-A, PAPPA1, IGFBP-4ase, PAPA, ASBABP2, DIPLA1	uc004bjn.3	Q13219	OTTHUMG00000021045	ENST00000328252.3:c.533G>T	9.37:g.118949550G>T	ENSP00000330658:p.Arg178Leu	Somatic	132	0		WXS	Illumina HiSeq	Phase_I	76	29	NM_002581	0	0	16	28	12	B1AMF9|Q08371|Q68G52|Q9UDK7	Missense_Mutation	SNP	ENST00000328252.3	37	CCDS6813.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948966	0.92660	.	.	ENSG00000182752	ENST00000328252	T	0.73681	-0.77	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);LamG-like jellyroll fold (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.88709	0.6510	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88974	0.3403	10	0.87932	D	0	-25.065	20.6439	0.99570	0.0:0.0:1.0:0.0	.	178	Q13219	PAPP1_HUMAN	L	178	ENSP00000330658:R178L	ENSP00000330658:R178L	R	+	2	0	PAPPA	117989371	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.827000	0.99397	2.884000	0.98904	0.655000	0.94253	CGA	.		0.532	PAPPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055546.1	NM_002581	
AMER1	139285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	63411696	63411696	+	Missense_Mutation	SNP	G	G	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chrX:63411696G>A	ENST00000330258.3	-	2	1743	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	AMER1_ENST00000374869.3_Missense_Mutation_p.R491C|AMER1_ENST00000403336.1_Missense_Mutation_p.R491C	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	491					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CAATCCCTGCGGACAAGCCCC	0.522																																					p.R491C		.											.	.	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.C1471T						.						61.0	50.0	54.0					X																	63411696		2203	4300	6503	SO:0001583	missense	139285	exon2			CCCTGCGGACAAG	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.1471C>T	X.37:g.63411696G>A	ENSP00000329117:p.Arg491Cys	Somatic	77	0		WXS	Illumina HiSeq	Phase_I	25	21	NM_152424	0	0	0	5	5	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	G	7.831	0.719945	0.15372	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.19532	2.14;2.14;2.14	5.21	3.3	0.37823	.	1.072280	0.07227	N	0.861857	T	0.17704	0.0425	N	0.24115	0.695	0.09310	N	1	P	0.45531	0.86	B	0.40329	0.326	T	0.25984	-1.0116	10	0.72032	D	0.01	0.0109	11.6933	0.51529	0.0:0.0:0.6193:0.3806	.	491	Q5JTC6	F123B_HUMAN	C	491	ENSP00000364003:R491C;ENSP00000329117:R491C;ENSP00000384722:R491C	ENSP00000329117:R491C	R	-	1	0	FAM123B	63328421	0.008000	0.16893	0.004000	0.12327	0.604000	0.37047	1.430000	0.34914	1.289000	0.44618	0.600000	0.82982	CGC	.		0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
OR2L8	391190	hgsc.bcm.edu	37	1	248112762	248112763	+	Frame_Shift_Del	DEL	TG	TG	-	rs34851853|rs4925790|rs4925789	byFrequency	TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:248112762_248112763delTG	ENST00000357191.3	+	1	603_604	c.603_604delTG	c.(601-606)agtgccfs	p.A202fs	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	202			A -> T (in dbSNP:rs4925790).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGTTTTTGAGTGCCACCATCTT	0.49																																					p.201_202del		.											.	OR2L8-70	0			c.603_604del						.																																			SO:0001589	frameshift_variant	391190	exon1			.	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.603_604delTG	1.37:g.248112762_248112763delTG	ENSP00000349719:p.Ala202fs	Somatic	72	0		WXS	Illumina HiSeq	Phase_I	64	10	NM_001001963	0	0	0	0	0	Q6IF03	Frame_Shift_Del	DEL	ENST00000357191.3	37	CCDS31101.1																																																																																			.		0.490	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2		
RRP12	23223	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	99120314	99120314	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr10:99120314delG	ENST00000370992.4	-	31	3740	c.3629delC	c.(3628-3630)cctfs	p.P1210fs	RRP12_ENST00000414986.1_Frame_Shift_Del_p.P1149fs|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000536831.1_Frame_Shift_Del_p.P928fs|RRP12_ENST00000315563.6_Frame_Shift_Del_p.P1110fs	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1210						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TTGGTACTGAGGGGGTATCTC	0.557																																					p.P1210fs		.											.	RRP12-92	0			c.3629delC						.						170.0	143.0	152.0					10																	99120314		2203	4300	6503	SO:0001589	frameshift_variant	23223	exon31			.		CCDS7457.1, CCDS44467.1, CCDS60605.1	10q24.2	2006-11-06	2006-11-06	2006-11-06	ENSG00000052749	ENSG00000052749			29100	protein-coding gene	gene with protein product			"""KIAA0690"""	KIAA0690		9734811	Standard	NM_015179		Approved		uc001knf.3	Q5JTH9	OTTHUMG00000018855	ENST00000370992.4:c.3629delC	10.37:g.99120314delG	ENSP00000360031:p.Pro1210fs	Somatic	133	0		WXS	Illumina HiSeq	Phase_I	81	39	NM_015179	0	0	0	0	0	B4DK00|E9PCK7|Q5JTH8|Q69YK4|Q96E87|Q9BUH3|Q9Y4C7	Frame_Shift_Del	DEL	ENST00000370992.4	37	CCDS7457.1																																																																																			.		0.557	RRP12-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049699.4	NM_015179	
SCN8A	6334	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	52145329	52145329	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:52145329delC	ENST00000354534.6	+	14	2500	c.2322delC	c.(2320-2322)cacfs	p.H775fs	SCN8A_ENST00000550891.1_Frame_Shift_Del_p.H775fs|SCN8A_ENST00000545061.1_Frame_Shift_Del_p.H775fs	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	775					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CAATGGAGCACCATCCTATGA	0.418																																					p.H774fs		.											.	SCN8A-29	0			c.2322delC						.						147.0	140.0	142.0					12																	52145329		2052	4218	6270	SO:0001589	frameshift_variant	6334	exon14			.	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2322delC	12.37:g.52145329delC	ENSP00000346534:p.His775fs	Somatic	108	0		WXS	Illumina HiSeq	Phase_I	109	36	NM_014191	0	0	0	0	0	B9VWG8|O95788|Q9NYX2|Q9UPB2	Frame_Shift_Del	DEL	ENST00000354534.6	37	CCDS44891.1																																																																																			.		0.418	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
TMPO	7112	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	12	98941479	98941479	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:98941479delA	ENST00000556029.1	+	9	1564	c.1208delA	c.(1207-1209)gaafs	p.E403fs	TMPO_ENST00000393053.2_Frame_Shift_Del_p.E294fs|TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000343315.5_Frame_Shift_Del_p.E363fs	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	403	Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTCAAGTCAGAAAAGACAAAA	0.408																																					p.E403fs		.											.	TMPO-93	0			c.1208delA						.						107.0	107.0	107.0					12																	98941479		2203	4300	6503	SO:0001589	frameshift_variant	7112	exon9			.		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.1208delA	12.37:g.98941479delA	ENSP00000450627:p.Glu403fs	Somatic	95	0		WXS	Illumina HiSeq	Phase_I	109	47	NM_001032283	0	0	0	0	0	A2T926|Q14861	Frame_Shift_Del	DEL	ENST00000556029.1	37	CCDS31879.1																																																																																			.		0.408	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
SRRM4	84530	broad.mit.edu;bcgsc.ca	37	12	119568567	119568567	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:119568567delC	ENST00000267260.4	+	8	1087	c.699delC	c.(697-699)agcfs	p.S233fs	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	233	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCAAGGACAGCCCTGAGGCCC	0.657																																					p.S233fs													.	SRRM4-2	0			c.699delC						.						25.0	30.0	29.0					12																	119568567		1929	4127	6056	SO:0001589	frameshift_variant	84530	exon8			GGACAGCCCTGAG	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.699delC	12.37:g.119568567delC	ENSP00000267260:p.Ser233fs	Somatic	56	0		WXS	Illumina HiSeq	Phase_I	41	9	NM_194286	0	0	0	0	0	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Frame_Shift_Del	DEL	ENST00000267260.4	37	CCDS44994.1																																																																																			.		0.657	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
LENG8	114823	broad.mit.edu;bcgsc.ca	37	19	54963430	54963444	+	Splice_Site	DEL	GTGGCCAGTGCACAG	GTGGCCAGTGCACAG	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	GTGGCCAGTGCACAG	GTGGCCAGTGCACAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr19:54963430_54963444delGTGGCCAGTGCACAG	ENST00000326764.5	+	3	678_692	c.199_213delGTGGCCAGTGCACAG	c.(199-213)gtggccagtgcacagdel	p.VASAQ67del	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	0										breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CAATGGGCCTGTGGCCAGTGCACAGGTGAGAAGGC	0.642																																					p.67_71del													.	LENG8-91	0			c.199_213del						.																																			SO:0001630	splice_region_variant	114823	exon3			GGGCCTGTGGCCA	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.213+1GTGGCCAGTGCACAG>-	19.37:g.54963430_54963444delGTGGCCAGTGCACAG		Somatic	49	0		WXS	Illumina HiSeq	Phase_I	27	8	NM_052925	0	0	0	0	0	B0VJY9|Q8IZ27|Q8NCX6	In_Frame_Del	DEL	ENST00000326764.5	37	CCDS12894.1																																																																																			.		0.642	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	In_Frame_Del
CDK13	8621	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	40117701	40117701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr7:40117701delT	ENST00000181839.4	+	10	3483	c.2878delT	c.(2878-2880)ttafs	p.L960fs	CDK13_ENST00000340829.5_Frame_Shift_Del_p.L960fs	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	960	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TCGTCGAAAGTTAAGAGAAGA	0.348																																					p.L960X		.											.	CDK13-548	0			c.2878delT						.						152.0	143.0	146.0					7																	40117701		2203	4300	6503	SO:0001589	frameshift_variant	8621	exon10			.	M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.2878delT	7.37:g.40117701delT	ENSP00000181839:p.Leu960fs	Somatic	78	0		WXS	Illumina HiSeq	Phase_I	139	64	NM_003718	0	0	0	0	0	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Nonsense_Mutation	DEL	ENST00000181839.4	37	CCDS5461.1																																																																																			.		0.348	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2	NM_003718	
RHPN1	114822	broad.mit.edu	37	8	144462787	144462787	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr8:144462787delG	ENST00000289013.6	+	11	1346	c.1245delG	c.(1243-1245)ctgfs	p.L415fs		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	440	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GTGCCATCCTGGGGCAGGAGG	0.697																																					p.L415fs													.	RHPN1-67	0			c.1245delG						.						11.0	14.0	13.0					8																	144462787		2086	4173	6259	SO:0001589	frameshift_variant	114822	exon11			CATCCTGGGGCAG	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.1245delG	8.37:g.144462787delG	ENSP00000289013:p.Leu415fs	Somatic	10	0		WXS	Illumina HiSeq	Phase_I	6	2	NM_052924	0	0	0	0	0	Q8TAV1|Q96PV9	Frame_Shift_Del	DEL	ENST00000289013.6	37	CCDS47927.1																																																																																			.		0.697	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1		
BMP15	9210	broad.mit.edu	37	X	50654047	50654047	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chrX:50654047delC	ENST00000252677.3	+	1	264	c.264delC	c.(262-264)cgcfs	p.R88fs		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	88					female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GAGAGAACCGCACCATTGGGG	0.592																																					p.R88fs													.	BMP15-132	0			c.264delC						.						23.0	14.0	17.0					X																	50654047		2199	4292	6491	SO:0001589	frameshift_variant	9210	exon1			GAACCGCACCATT	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.264delC	X.37:g.50654047delC	ENSP00000252677:p.Arg88fs	Somatic	31	0		WXS	Illumina HiSeq	Phase_I	6	2	NM_005448	0	0	0	0	0	Q17RM6|Q5JST1|Q9UMS1	Frame_Shift_Del	DEL	ENST00000252677.3	37	CCDS14334.1																																																																																			.		0.592	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	NM_005448	
UBR4	23352	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	19448476	19448477	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr1:19448476_19448477insA	ENST00000375254.3	-	67	9873_9874	c.9846_9847insT	c.(9844-9849)attgccfs	p.A3283fs	UBR4_ENST00000375217.2_Frame_Shift_Ins_p.A3276fs|UBR4_ENST00000375226.2_Frame_Shift_Ins_p.A3259fs|UBR4_ENST00000375267.2_Frame_Shift_Ins_p.A3283fs	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3283					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CGCTGGGCGGCAATCTCTGCAC	0.485																																					p.A3283fs		.											.	UBR4-612	0			c.9847_9848insT						.																																			SO:0001589	frameshift_variant	23352	exon67			.	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.9847dupT	1.37:g.19448478_19448478dupA	ENSP00000364403:p.Ala3283fs	Somatic	105	0		WXS	Illumina HiSeq	Phase_I	75	30	NM_020765	0	0	0	0	0	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Frame_Shift_Ins	INS	ENST00000375254.3	37	CCDS189.1																																																																																			.		0.485	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	
PRKACG	5568	broad.mit.edu	37	9	71629038	71629039	+	5'UTR	INS	-	-	GCGGCG			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr9:71629038_71629039insGCGGCG	ENST00000377276.2	-	0	0_1					NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|male gonad development (GO:0008584)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cytosol (GO:0005829)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						gcgggggtctcgcggcggcggc	0.752																																					.	Esophageal Squamous(110;2236 2623 32146)												.	PRKACG-1061	0			.						.																																			SO:0001623	5_prime_UTR_variant	5568	.			GGGTCTCGCGGCG	M34182	CCDS6625.1	9q13	2012-10-02			ENSG00000165059	ENSG00000165059	2.7.11.1		9382	protein-coding gene	gene with protein product		176893				2342480, 9598317	Standard	NM_002732		Approved	PKACg	uc004agy.3	P22612	OTTHUMG00000019974	ENST00000377276.2:c.-31->CGCCGC	9.37:g.71629039_71629044dupGCGGCG		Somatic	20	0		WXS	Illumina HiSeq	Phase_I	13	4	.	0	0	0	0	0	O60850|Q5VZ02|Q86YI1	Splice_Site	INS	ENST00000377276.2	37	CCDS6625.1																																																																																			.		0.752	PRKACG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052559.1		
EP400	57634	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	132522561	132522562	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	GC	GC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr12:132522561_132522562GC>AT	ENST00000333577.4	+	33	6344_6345	c.6235_6236GC>AT	c.(6235-6237)GCt>ATt	p.A2079I	EP400_ENST00000332482.4_Missense_Mutation_p.A2006I|EP400_ENST00000389562.2_Missense_Mutation_p.A2042I|EP400_ENST00000330386.6_Missense_Mutation_p.A1962I|EP400_ENST00000389561.2_Missense_Mutation_p.A2043I			Q96L91	EP400_HUMAN	E1A binding protein p400	2079					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCGGTCAAAGCTGAGGAGTTT	0.465																																					p.A2079I		.											.	EP400	0			c.C6128T						.																																			SO:0001583	missense	57634	exon32			TCAAAGCTGAGGA	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		Exception_encountered	12.37:g.132522561_132522562delinsAT	ENSP00000333602:p.Ala2079Ile	Somatic	231.0	0.0		WXS	Illumina HiSeq	Phase_I	229.0	60.0		0	0	0	0	0	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	DNP	ENST00000333577.4	37																																																																																				.		0.465	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
KIF20A	10112	ucsc.edu	37	5	137519414	137519415	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr5:137519414_137519415GG>TT	ENST00000394894.3	+	10	1403_1404	c.1177_1178GG>TT	c.(1177-1179)GGg>TTg	p.G393L	KIF20A_ENST00000508792.1_Missense_Mutation_p.G375L	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	393	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			ACACCTTCAGGGGGAAGGAGAT	0.426																																					p.G393L													.	KIF20A-90	0			c.G1178T						.																																			SO:0001583	missense	10112	exon10			TTCAGGGGGAAGG	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	Exception_encountered	5.37:g.137519414_137519415delinsTT	ENSP00000378356:p.Gly393Leu	Somatic	58	0		WXS	Illumina HiSeq		33	4	NM_005733	0	0	0	0	0	B4DL79|D3DQB6	Missense_Mutation	DNP	ENST00000394894.3	37	CCDS4199.1																																																																																			.		0.426	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733	
IGF2R	3482	ucsc.edu	37	6	160483635	160483636	+	Missense_Mutation	DNP	CG	CG	AA	rs375087362|rs368061810		TCGA-DZ-6133-01A-11D-1961-08	TCGA-DZ-6133-10A-01D-1962-08	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dac1245d-4f00-4d28-bbc0-cdaf6beba2d0	e6107469-78da-4831-a87a-9fc0dbccbd8e	g.chr6:160483635_160483636CG>AA	ENST00000356956.1	+	26	3802_3803	c.3654_3655CG>AA	c.(3652-3657)ccCGtt>ccAAtt	p.V1219I		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1219					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)	p.P1218P(1)		breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	AAGCCTGTCCCGTTGTCAGAGT	0.46																																					p.V1219I													.	IGF2R-118	1	Substitution - coding silent(1)	urinary_tract(1)	c.G3655A						.																																			SO:0001583	missense	3482	exon26			TGTCCCGTTGTCA	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	Exception_encountered	6.37:g.160483635_160483636delinsAA	ENSP00000349437:p.Val1219Ile	Somatic	82	0		WXS	Illumina HiSeq		52	5	NM_000876	0	0	0	0	0	Q7Z7G9|Q96PT5	Missense_Mutation	DNP	ENST00000356956.1	37	CCDS5273.1																																																																																			.		0.460	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876	
