#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAR	103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154574192	154574192	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr1:154574192T>A	ENST00000368474.4	-	2	1125	c.926A>T	c.(925-927)aAt>aTt	p.N309I	ADAR_ENST00000292205.5_Missense_Mutation_p.N352I|ADAR_ENST00000368471.3_Missense_Mutation_p.N14I|ADAR_ENST00000471068.1_5'Flank	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	309					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.N309I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTCAGACACATTGAAGAGATA	0.453																																																	1	Substitution - Missense(1)	kidney(1)											92.0	94.0	93.0					1																	154574192		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.926A>T	1.37:g.154574192T>A	ENSP00000357459:p.Asn309Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.247677	0.59103	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.45	2.04	0.26737	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (3);	0.655353	0.16143	N	0.227655	T	0.44829	0.1312	L	0.50333	1.59	0.09310	N	0.999999	P;P;D	0.58970	0.896;0.896;0.984	P;P;P	0.57846	0.653;0.653;0.828	T	0.33085	-0.9882	10	0.87932	D	0	-4.948	4.2115	0.10514	0.0:0.2296:0.1765:0.5939	.	309;309;309	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	I	352;309;14;304	ENSP00000292205:N352I;ENSP00000357459:N309I;ENSP00000357456:N14I;ENSP00000431794:N304I	ENSP00000292205:N352I	N	-	2	0	ADAR	152840816	0.000000	0.05858	0.024000	0.17045	0.944000	0.59088	0.748000	0.26305	0.303000	0.22785	0.402000	0.26972	AAT		0.453	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2		NM_001111	
ADORA2B	136	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15848766	15848766	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr17:15848766C>T	ENST00000304222.2	+	1	536	c.204C>T	c.(202-204)agC>agT	p.S68S		NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	68					activation of adenylate cyclase activity (GO:0007190)|activation of MAPK activity (GO:0000187)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cellular defense response (GO:0006968)|cellular response to extracellular stimulus (GO:0031668)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)|JNK cascade (GO:0007254)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to non-antigenic stimulus (GO:0002882)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation vascular endothelial growth factor production (GO:0010575)|relaxation of vascular smooth muscle (GO:0060087)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.S68S(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Adenosine(DB00640)|Defibrotide(DB04932)|Enprofylline(DB00824)|Theophylline(DB00277)	TCACCATCAGCCTGGGCTTCT	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	40.0	45.0					17																	15848766		2203	4300	6503	SO:0001819	synonymous_variant	136			M97759	CCDS11173.1	17p12	2012-08-08			ENSG00000170425	ENSG00000170425		"""GPCR / Class A : Adenosine receptors"""	264	protein-coding gene	gene with protein product		600446				7558011	Standard	NM_000676		Approved		uc002gpd.1	P29275	OTTHUMG00000059140	ENST00000304222.2:c.204C>T	17.37:g.15848766C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000304222.2	37	CCDS11173.1																																																																																				0.632	ADORA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131032.1			
GPR75-ASB3	100302652	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	53955964	53955964	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr2:53955964T>G	ENST00000263634.3	-	5	623	c.489A>C	c.(487-489)aaA>aaC	p.K163N	ASB3_ENST00000406625.2_Missense_Mutation_p.K198N|GPR75-ASB3_ENST00000352846.3_Missense_Mutation_p.K201N|GPR75-ASB3_ENST00000482829.1_5'UTR|ASB3_ENST00000498475.2_5'UTR|GPR75-ASB3_ENST00000394717.2_Missense_Mutation_p.K90N|GPR75-ASB3_ENST00000406687.1_Missense_Mutation_p.K90N	NM_016115.4	NP_057199.1			GPR75-ASB3 readthrough									p.K163N(1)									TAAGAAGCAATTTTATGATCT	0.338																																																	1	Substitution - Missense(1)	kidney(1)											110.0	106.0	107.0					2																	53955964		2202	4300	6502	SO:0001583	missense	51130				CCDS54361.1	2p16	2013-01-23			ENSG00000115239	ENSG00000115239			40043	other	readthrough							Standard	NM_001164165		Approved				OTTHUMG00000129279	ENST00000263634.3:c.489A>C	2.37:g.53955964T>G	ENSP00000263634:p.Lys163Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000263634.3	37	CCDS1846.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.77|15.77	2.932753|2.932753	0.52866|0.52866	.|.	.|.	ENSG00000115239|ENSG00000115239	ENST00000406053|ENST00000263634;ENST00000406625;ENST00000406687;ENST00000394717;ENST00000352846	.|T;T;T;T;T	.|0.69306	.|-0.39;-0.39;-0.39;-0.39;-0.39	5.46|5.46	3.1|3.1	0.35709|0.35709	.|Ankyrin repeat-containing domain (4);	.|0.403382	.|0.29900	.|N	.|0.010902	T|T	0.66973|0.66973	0.2844|0.2844	L|L	0.40543|0.40543	1.245|1.245	.|0.29825	.|N	.|0.830488	.|D;P	.|0.56287	.|0.975;0.87	.|P;P	.|0.58077	.|0.832;0.724	T|T	0.72043|0.72043	-0.4409|-0.4409	4|9	.|0.45353	.|T	.|0.12	.|.	7.9645|7.9645	0.30091|0.30091	0.0:0.2268:0.0:0.7732|0.0:0.2268:0.0:0.7732	.|.	.|198;163	.|Q2TAI4;Q9Y575	.|.;ASB3_HUMAN	L|N	156|163;198;90;90;201	.|ENSP00000263634:K163N;ENSP00000385085:K198N;ENSP00000384728:K90N;ENSP00000378206:K90N;ENSP00000313756:K201N	.|ENSP00000263634:K163N	I|K	-|-	1|3	0|2	ASB3|ASB3	53809468|53809468	0.938000|0.938000	0.31826|0.31826	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	0.671000|0.671000	0.25172|0.25172	0.466000|0.466000	0.27193|0.27193	0.533000|0.533000	0.62120|0.62120	ATT|AAA		0.338	GPR75-ASB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251402.3			
ATF2	1386	broad.mit.edu;hgsc.bcm.edu	37	2	175957974	175957974	+	Missense_Mutation	SNP	G	G	C	rs372839325		TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr2:175957974G>C	ENST00000264110.2	-	12	1298	c.1000C>G	c.(1000-1002)Cca>Gca	p.P334A	ATF2_ENST00000409635.1_Missense_Mutation_p.P276A|ATF2_ENST00000538946.1_Missense_Mutation_p.P316A|ATF2_ENST00000426833.3_Missense_Mutation_p.P316A|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000392544.1_Missense_Mutation_p.P334A|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Missense_Mutation_p.P218A|ATF2_ENST00000345739.5_Missense_Mutation_p.P276A|ATF2_ENST00000487334.2_3'UTR	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	334					adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.P334A(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	TGGGTCTGTGGAGTTGTGTGA	0.418																																					Pancreas(17;87 705 4534 15538 30988)												1	Substitution - Missense(1)	kidney(1)						G	ALA/PRO	0,4406		0,0,2203	54.0	50.0	51.0		1000	5.7	1.0	2		51	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATF2	NM_001880.2	27	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	334/506	175957974	1,13005	2203	4300	6503	SO:0001583	missense	1386			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1000C>G	2.37:g.175957974G>C	ENSP00000264110:p.Pro334Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	ENST00000264110.2	37	CCDS2262.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155203	0.57259	0.0	1.16E-4	ENSG00000115966	ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	T;T;T;T;T;T;T	0.80033	-1.31;0.25;-0.75;0.25;-1.31;-1.33;-0.77	5.67	5.67	0.87782	.	0.113246	0.64402	D	0.000012	T	0.79209	0.4407	L	0.59436	1.845	0.54753	D	0.999981	B;B;B;B	0.23591	0.088;0.055;0.031;0.02	B;B;B;B	0.21708	0.023;0.036;0.021;0.014	T	0.73350	-0.4010	10	0.26408	T	0.33	-42.1371	19.7806	0.96414	0.0:0.0:1.0:0.0	.	316;311;276;334	A4D7U4;B3KY57;Q3B7B7;P15336	.;.;.;ATF2_HUMAN	A	334;276;311;218;276;334;316;316	ENSP00000264110:P334A;ENSP00000340576:P276A;ENSP00000386326:P218A;ENSP00000387093:P276A;ENSP00000376327:P334A;ENSP00000407911:P316A;ENSP00000437952:P316A	ENSP00000264110:P334A	P	-	1	0	ATF2	175666220	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.414000	0.97362	2.669000	0.90835	0.650000	0.86243	CCA		0.418	ATF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255562.1		NM_001880	
ATG2A	23130	broad.mit.edu;hgsc.bcm.edu	37	11	64681821	64681821	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr11:64681821C>T	ENST00000377264.3	-	2	435	c.323G>A	c.(322-324)cGc>cAc	p.R108H	ATG2A_ENST00000421419.2_Missense_Mutation_p.R108H	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	108					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)		p.R108H(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGACCCCGGCGGGGCTGCAA	0.716																																																	1	Substitution - Missense(1)	kidney(1)											14.0	16.0	15.0					11																	64681821		2196	4290	6486	SO:0001583	missense	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.323G>A	11.37:g.64681821C>T	ENSP00000366475:p.Arg108His	Somatic		WXS	Illumina HiSeq	Phase_I	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	c	18.10	3.549000	0.65311	.	.	ENSG00000110046	ENST00000421419;ENST00000377264;ENST00000227459	T;T	0.55760	0.5;0.5	4.07	3.16	0.36331	.	0.087495	0.44285	D	0.000468	T	0.58694	0.2140	L	0.59436	1.845	0.28411	N	0.918177	D	0.64830	0.994	P	0.58454	0.839	T	0.54139	-0.8338	10	0.72032	D	0.01	.	6.3586	0.21414	0.0:0.778:0.0:0.222	.	108	Q2TAZ0	ATG2A_HUMAN	H	108	ENSP00000410522:R108H;ENSP00000366475:R108H	ENSP00000227459:R108H	R	-	2	0	ATG2A	64438397	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	1.300000	0.33436	1.089000	0.41292	0.457000	0.33378	CGC		0.716	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000143224.1		NM_015104	
BCAR3	8412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94032907	94032907	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr1:94032907T>C	ENST00000370244.1	-	13	2516	c.2228A>G	c.(2227-2229)cAt>cGt	p.H743R	BCAR3_ENST00000370247.3_Missense_Mutation_p.H652R|BCAR3_ENST00000260502.6_Missense_Mutation_p.H743R|BCAR3_ENST00000539242.1_Missense_Mutation_p.H419R|BCAR3_ENST00000370243.1_Missense_Mutation_p.H743R	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	743	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)	p.H743R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TGTTGCCAAATGGTTCAGCAT	0.512																																																	1	Substitution - Missense(1)	kidney(1)											170.0	143.0	152.0					1																	94032907		2203	4300	6503	SO:0001583	missense	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2228A>G	1.37:g.94032907T>C	ENSP00000359264:p.His743Arg	Somatic		WXS	Illumina HiSeq	Phase_I	D3DT43|Q5TEW3|Q6UW40|Q9BR50	Missense_Mutation	SNP	ENST00000370244.1	37	CCDS745.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.498135	0.85069	.	.	ENSG00000137936	ENST00000370247;ENST00000260502;ENST00000370244;ENST00000370243;ENST00000539242	T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61	5.85	5.85	0.93711	Guanine-nucleotide dissociation stimulator CDC25 (2);Ras guanine nucleotide exchange factor, domain (1);	0.047473	0.85682	D	0.000000	T	0.51770	0.1694	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.59268	-0.7486	10	0.87932	D	0	-19.5773	16.2303	0.82332	0.0:0.0:0.0:1.0	.	743;652	O75815;Q5TEW3	BCAR3_HUMAN;.	R	652;743;743;743;419	ENSP00000359267:H652R;ENSP00000260502:H743R;ENSP00000359264:H743R;ENSP00000359263:H743R;ENSP00000441343:H419R	ENSP00000260502:H743R	H	-	2	0	BCAR3	93805495	1.000000	0.71417	0.941000	0.38009	0.797000	0.45037	7.671000	0.83941	2.233000	0.73108	0.533000	0.62120	CAT		0.512	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028420.1			
HECTD4	283450	broad.mit.edu	37	12	112605691	112605691	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr12:112605691A>C	ENST00000430131.2	-	70	12118	c.10973T>G	c.(10972-10974)gTg>gGg	p.V3658G	HECTD4_ENST00000550722.1_Missense_Mutation_p.V3934G|HECTD4_ENST00000377560.5_Missense_Mutation_p.V3908G			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3658	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.V3658G(1)|p.V3908G(1)									CTCCTTACACACCTGCCACAG	0.632																																																	2	Substitution - Missense(2)	kidney(2)											37.0	46.0	43.0					12																	112605691		2024	4189	6213	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.10973T>G	12.37:g.112605691A>C	ENSP00000404379:p.Val3658Gly	Somatic		WXS	Illumina GAIIx	Phase_I	L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.	.	.	.	.	.	.	.	.	.	A	18.07	3.542341	0.65198	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722;ENST00000547085	T;T;T	0.51817	0.69;0.69;0.69	5.46	5.46	0.80206	HECT (4);	.	.	.	.	T	0.62684	0.2448	L	0.48642	1.525	0.80722	D	1	D	0.59357	0.985	D	0.73708	0.981	T	0.65619	-0.6124	9	0.87932	D	0	.	15.5183	0.75842	1.0:0.0:0.0:0.0	.	3658	Q9Y4D8	K0614_HUMAN	G	3908;3658;3934;123	ENSP00000366783:V3908G;ENSP00000404379:V3658G;ENSP00000449784:V3934G	ENSP00000366783:V3908G	V	-	2	0	C12orf51	111090074	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.960000	0.76036	2.090000	0.63153	0.402000	0.26972	GTG		0.632	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813	
NOL4L	140688	broad.mit.edu;hgsc.bcm.edu	37	20	31035602	31035602	+	Missense_Mutation	SNP	T	T	C	rs377542764		TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr20:31035602T>C	ENST00000359676.5	-	8	1250	c.1108A>G	c.(1108-1110)Atg>Gtg	p.M370V	RP5-1184F4.5_ENST00000442179.1_RNA	NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	NOL4L_HUMAN		370						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M370V(1)		endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						CCGCCTTTCATGCTGAGGTCC	0.662																																																	1	Substitution - Missense(1)	kidney(1)											36.0	40.0	38.0					20																	31035602		2202	4296	6498	SO:0001583	missense	140688																														ENST00000359676.5:c.1108A>G	20.37:g.31035602T>C	ENSP00000352704:p.Met370Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JYB7|Q6P0Y4|Q9BR34|Q9NQF6	Missense_Mutation	SNP	ENST00000359676.5	37	CCDS13202.1	.	.	.	.	.	.	.	.	.	.	T	14.15	2.449665	0.43531	.	.	ENSG00000197183	ENST00000359676;ENST00000397984	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	M	0.64997	1.995	0.80722	D	1	P	0.43578	0.811	P	0.60789	0.879	T	0.77485	-0.2570	9	0.66056	D	0.02	-9.57	14.9144	0.70785	0.0:0.0:0.0:1.0	.	370	Q96MY1	CT112_HUMAN	V	370	.	ENSP00000352704:M370V	M	-	1	0	C20orf112	30499263	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.804000	0.85993	2.164000	0.68074	0.459000	0.35465	ATG		0.662	C20orf112-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078628.2			
CCDC54	84692	hgsc.bcm.edu;ucsc.edu	37	3	107096611	107096612	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr3:107096611_107096612insTA	ENST00000261058.1	+	1	424_425	c.177_178insTA	c.(178-180)tatfs	p.Y60fs		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	60										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATGATGATAGTTATGACGGAAA	0.361																																																	0																																										SO:0001589	frameshift_variant	84692			AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.178_179dupTA	3.37:g.107096612_107096613dupTA	ENSP00000261058:p.Tyr60fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q96A43	Frame_Shift_Ins	INS	ENST00000261058.1	37	CCDS2949.1																																																																																				0.361	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1		NM_032600	
CD33	945	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51728801	51728801	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr19:51728801G>T	ENST00000262262.4	+	2	386	c.365G>T	c.(364-366)aGa>aTa	p.R122I	CD33_ENST00000391796.3_Missense_Mutation_p.R122I|CD33_ENST00000421133.2_Intron|CD33_ENST00000436584.2_Intron	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	122	Ig-like V-type.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.R122I(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CGGATGGAGAGAGGAAGTACC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											50.0	52.0	51.0					19																	51728801		2203	4299	6502	SO:0001583	missense	945			M23197	CCDS33084.1, CCDS46157.1, CCDS54299.1	19q13.3	2013-01-29	2006-03-28		ENSG00000105383	ENSG00000105383		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1659	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 3"""	159590	"""CD33 antigen (gp67)"""			3139766, 9465907	Standard	NM_001772		Approved	SIGLEC3, SIGLEC-3, p67, FLJ00391	uc002pwa.2	P20138		ENST00000262262.4:c.365G>T	19.37:g.51728801G>T	ENSP00000262262:p.Arg122Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4E3P8|C9JEN7|F8WAL2|Q8TD24	Missense_Mutation	SNP	ENST00000262262.4	37	CCDS33084.1	.	.	.	.	.	.	.	.	.	.	.	10.02	1.237071	0.22711	.	.	ENSG00000105383	ENST00000262262;ENST00000391796	T;T	0.46063	0.88;0.88	3.34	-6.69	0.01772	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.562160	0.04939	U	0.458304	T	0.49012	0.1532	M	0.71296	2.17	0.09310	N	1	P;P	0.45348	0.856;0.543	P;B	0.54026	0.74;0.381	T	0.57985	-0.7716	10	0.72032	D	0.01	.	2.6836	0.05101	0.4101:0.2868:0.2071:0.0959	.	122;122	F8WAL2;P20138	.;CD33_HUMAN	I	122	ENSP00000262262:R122I;ENSP00000375673:R122I	ENSP00000262262:R122I	R	+	2	0	CD33	56420613	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.760000	0.04756	-3.394000	0.00172	-2.852000	0.00102	AGA		0.522	CD33-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464199.2		NM_001772	
CEP164	22897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	117263006	117263006	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr11:117263006C>T	ENST00000278935.3	+	18	2495	c.2348C>T	c.(2347-2349)gCc>gTc	p.A783V	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	783	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.A783V(1)		breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TCATTGGAGGCCAAGCACCGG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											47.0	45.0	46.0					11																	117263006		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2348C>T	11.37:g.117263006C>T	ENSP00000278935:p.Ala783Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	C	10.12	1.263752	0.23136	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.43294	0.95	4.66	3.6	0.41247	.	0.298004	0.24960	N	0.034227	T	0.44623	0.1302	L	0.27053	0.805	0.21290	N	0.999734	P;D;P;B	0.67145	0.58;0.996;0.573;0.386	B;D;B;B	0.77557	0.196;0.99;0.272;0.178	T	0.14337	-1.0476	10	0.39692	T	0.17	-6.5848	6.7507	0.23485	0.3653:0.4958:0.1388:0.0	.	757;557;783;786	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	V	783;757;664	ENSP00000278935:A783V	ENSP00000278935:A783V	A	+	2	0	CEP164	116768216	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	1.682000	0.37628	2.298000	0.77334	0.561000	0.74099	GCC		0.607	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1		NM_014956	
CHD9	80205	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53358659	53358659	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr16:53358659T>C	ENST00000398510.3	+	38	8633	c.8546T>C	c.(8545-8547)aTt>aCt	p.I2849T	CHD9_ENST00000564845.1_Missense_Mutation_p.I2833T|CHD9_ENST00000566029.1_Missense_Mutation_p.I2833T|CHD9_ENST00000447540.1_Missense_Mutation_p.I2834T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2849					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.I2850T(1)|p.I2850S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATTCCAGAATTAAAGATCAG	0.393																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											50.0	45.0	46.0					16																	53358659		1843	4086	5929	SO:0001583	missense	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8546T>C	16.37:g.53358659T>C	ENSP00000381522:p.Ile2849Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37		.	.	.	.	.	.	.	.	.	.	T	2.403	-0.337230	0.05278	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.85013	-1.93	5.16	-1.88	0.07713	.	0.803304	0.10604	N	0.655262	T	0.68072	0.2961	N	0.08118	0	0.21697	N	0.999583	P;B;P;B	0.49447	0.495;0.0;0.924;0.0	B;B;B;B	0.43809	0.09;0.0;0.432;0.0	T	0.61739	-0.7001	10	0.20519	T	0.43	0.2066	7.9714	0.30130	0.0:0.1292:0.4786:0.3922	.	915;2834;2849;2833	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	T	2834;2833;915	ENSP00000396345:I2834T	ENSP00000381522:I2833T	I	+	2	0	CHD9	51916160	0.987000	0.35691	0.914000	0.36105	0.945000	0.59286	0.277000	0.18734	-0.593000	0.05844	-0.256000	0.11100	ATT		0.393	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1		NM_025134	
CNKSR2	22866	broad.mit.edu	37	X	21450761	21450761	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chrX:21450761C>A	ENST00000379510.3	+	3	296	c.260C>A	c.(259-261)aCc>aAc	p.T87N	CNKSR2_ENST00000543067.1_Missense_Mutation_p.T87N|CNKSR2_ENST00000279451.4_Missense_Mutation_p.T87N|CNKSR2_ENST00000425654.2_Missense_Mutation_p.T87N	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	87	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.T87N(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATCTAAAAACCCTTTCTCAC	0.328																																																	2	Substitution - Missense(2)	prostate(1)|kidney(1)											62.0	69.0	67.0					X																	21450761		2203	4300	6503	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.260C>A	X.37:g.21450761C>A	ENSP00000368824:p.Thr87Asn	Somatic		WXS	Illumina GAIIx	Phase_I	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242689	0.39598	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.19250	2.43;2.17;2.16;2.43	4.76	4.76	0.60689	CRIC domain (1);CRIC domain, Chordata (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	N	0.11927	0.2	0.58432	D	0.999999	D;B;B	0.89917	1.0;0.333;0.236	D;B;B	0.83275	0.996;0.326;0.173	T	0.19451	-1.0305	10	0.25751	T	0.34	-0.0541	17.1028	0.86654	0.0:1.0:0.0:0.0	.	87;87;87	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	N	87	ENSP00000397906:T87N;ENSP00000444633:T87N;ENSP00000279451:T87N;ENSP00000368824:T87N	ENSP00000279451:T87N	T	+	2	0	CNKSR2	21360682	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.344000	0.79328	1.958000	0.56883	0.363000	0.22086	ACC		0.328	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1		NM_014927	
CNNM3	26505	hgsc.bcm.edu;ucsc.edu	37	2	97492576	97492576	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr2:97492576delC	ENST00000305510.3	+	3	1404	c.1376delC	c.(1375-1377)accfs	p.T459fs	CNNM3_ENST00000377060.3_Frame_Shift_Del_p.T411fs|ANKRD23_ENST00000476975.1_Intron	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	459					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TTAGGAGACACCGTGGTGAAG	0.532																																																	0													163.0	153.0	156.0					2																	97492576		2203	4300	6503	SO:0001589	frameshift_variant	26505			AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1376delC	2.37:g.97492576delC	ENSP00000305449:p.Thr459fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Frame_Shift_Del	DEL	ENST00000305510.3	37	CCDS2025.1																																																																																				0.532	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2		NM_017623	
COL6A6	131873	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130293121	130293121	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr3:130293121C>G	ENST00000358511.6	+	7	3330	c.3299C>G	c.(3298-3300)aCa>aGa	p.T1100R	COL6A6_ENST00000453409.2_Missense_Mutation_p.T1100R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1100	Nonhelical region.|VWFA 6. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.T1100R(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGGATAAATACAGGTACCCCA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											88.0	93.0	91.0					3																	130293121		2029	4193	6222	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3299C>G	3.37:g.130293121C>G	ENSP00000351310:p.Thr1100Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	C	1.107	-0.659482	0.03454	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.76968	-1.06;-1.06	5.28	4.39	0.52855	von Willebrand factor, type A (3);	0.554976	0.16847	N	0.197096	T	0.49915	0.1585	N	0.04260	-0.245	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.33854	-0.9852	10	0.12103	T	0.63	.	4.5227	0.11966	0.2376:0.5537:0.1279:0.0808	.	1100	A6NMZ7	CO6A6_HUMAN	R	1100	ENSP00000351310:T1100R;ENSP00000399236:T1100R	ENSP00000351310:T1100R	T	+	2	0	COL6A6	131775811	0.000000	0.05858	0.006000	0.13384	0.021000	0.10359	-0.101000	0.10973	2.630000	0.89119	0.655000	0.94253	ACA		0.537	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608	
EXOSC9	5393	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	122722621	122722621	+	Silent	SNP	A	A	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr4:122722621A>G	ENST00000243498.5	+	1	150	c.42A>G	c.(40-42)ctA>ctG	p.L14L	EXOSC9_ENST00000512454.1_5'Flank|EXOSC9_ENST00000379663.3_Silent_p.L14L|EXOSC9_ENST00000509980.1_3'UTR	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	14	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.L14L(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GCCGCTTCCTACTCCGTGCCA	0.602																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	77.0	78.0					4																	122722621		2203	4300	6503	SO:0001819	synonymous_variant	5393			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.42A>G	4.37:g.122722621A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q12883|Q4W5P5|Q86Y41|Q86Y48	Silent	SNP	ENST00000243498.5	37	CCDS3722.2																																																																																				0.602	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2		NM_005033	
FBXO4	26272	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	41934379	41934379	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr5:41934379C>T	ENST00000281623.3	+	5	923	c.867C>T	c.(865-867)ttC>ttT	p.F289F	FBXO4_ENST00000296812.2_Silent_p.F289F|FBXO4_ENST00000509134.1_Silent_p.F289F	NM_012176.2	NP_036308.1	Q9UKT5	FBX4_HUMAN	F-box protein 4	289					positive regulation of protein ubiquitination (GO:0031398)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|telomere maintenance (GO:0000723)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)	p.F289F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2)	27		Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604)				TAGATGGGTTCATCTATGTTG	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											136.0	133.0	134.0					5																	41934379		2203	4300	6503	SO:0001819	synonymous_variant	26272			AF129534	CCDS3938.1, CCDS3939.1, CCDS75238.1	5p12	2008-02-05	2004-06-15		ENSG00000151876	ENSG00000151876		"""F-boxes /  ""other"""""	13583	protein-coding gene	gene with protein product		609090	"""F-box only protein 4"""			10531035, 10531037	Standard	NM_033484		Approved	FBX4	uc003jmq.3	Q9UKT5	OTTHUMG00000094799	ENST00000281623.3:c.867C>T	5.37:g.41934379C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q68CU8|Q86VT8|Q9UK98	Silent	SNP	ENST00000281623.3	37	CCDS3938.1																																																																																				0.358	FBXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211614.1			
FFAR2	2867	broad.mit.edu;ucsc.edu	37	19	35941423	35941423	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr19:35941423C>T	ENST00000599180.2	+	2	887	c.807C>T	c.(805-807)gaC>gaT	p.D269D	FFAR2_ENST00000246549.2_Silent_p.D269D|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	269					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)	p.D269D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCAGTCTGGACCCCCTGCTCT	0.582																																					GBM(40;139 809 9833 23358 48736)												1	Substitution - coding silent(1)	kidney(1)											96.0	92.0	94.0					19																	35941423		2203	4300	6503	SO:0001819	synonymous_variant	2867			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.807C>T	19.37:g.35941423C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Silent	SNP	ENST00000599180.2	37	CCDS12461.1																																																																																				0.582	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466120.3		NM_005306	
IZUMO1	284359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49246716	49246716	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr19:49246716G>T	ENST00000332955.2	-	6	1032	c.485C>A	c.(484-486)tCc>tAc	p.S162Y	RASIP1_ENST00000222145.4_5'Flank	NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	162					cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	acrosomal membrane (GO:0002080)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.S162Y(1)		endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GCAATCGTAGGACTTTCGACA	0.562																																																	1	Substitution - Missense(1)	kidney(1)											118.0	87.0	98.0					19																	49246716		2203	4300	6503	SO:0001583	missense	284359			BC034769	CCDS12732.1	19q13.33	2014-07-23			ENSG00000182264	ENSG00000182264		"""-"""	28539	protein-coding gene	gene with protein product	"""oocyte binding/fusion factor"""	609278				15759005, 18952059, 19658160, 22957301	Standard	NM_182575		Approved	IZUMO, MGC34799, OBF	uc002pkj.3	Q8IYV9	OTTHUMG00000183324	ENST00000332955.2:c.485C>A	19.37:g.49246716G>T	ENSP00000327786:p.Ser162Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6Q8P6|Q6Q8P7	Missense_Mutation	SNP	ENST00000332955.2	37	CCDS12732.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735939	0.49045	.	.	ENSG00000182264	ENST00000332955	T	0.24350	1.86	4.92	2.73	0.32206	.	0.603781	0.16107	N	0.229287	T	0.43831	0.1265	L	0.58101	1.795	0.21325	N	0.999727	D	0.89917	1.0	D	0.74023	0.982	T	0.17077	-1.0381	10	0.87932	D	0	-14.7749	10.4247	0.44371	0.0:0.0:0.6453:0.3547	.	162	Q8IYV9	IZUM1_HUMAN	Y	162	ENSP00000327786:S162Y	ENSP00000327786:S162Y	S	-	2	0	IZUMO1	53938528	0.337000	0.24766	0.158000	0.22627	0.040000	0.13550	0.482000	0.22276	0.763000	0.33175	0.561000	0.74099	TCC		0.562	IZUMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466189.1		NM_182575	
KIAA0754	643314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39877862	39877862	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr1:39877862A>C	ENST00000530275.1	+	1	1712	c.1517A>C	c.(1516-1518)aAt>aCt	p.N506T	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	506										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACTGAGGGGAATGGTGAGGAG	0.438																																																	0													207.0	199.0	201.0					1																	39877862		1914	4142	6056	SO:0001583	missense	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1517A>C	1.37:g.39877862A>C	ENSP00000431179:p.Asn506Thr	Somatic		WXS	Illumina HiSeq	Phase_I	E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37		.	.	.	.	.	.	.	.	.	.	A	12.31	1.899278	0.33535	.	.	ENSG00000255103	ENST00000530275	D	0.86230	-2.09	5.41	1.89	0.25635	.	.	.	.	.	D	0.84424	0.5469	N	0.24115	0.695	0.09310	N	1	D	0.54964	0.969	P	0.57468	0.821	T	0.73550	-0.3947	9	0.87932	D	0	.	6.3669	0.21459	0.7148:0.0:0.2852:0.0	.	506	O94854	K0754_HUMAN	T	506	ENSP00000431179:N506T	ENSP00000431179:N506T	N	+	2	0	RP4-562N20.1	39650449	0.641000	0.27251	0.872000	0.34217	0.925000	0.55904	2.712000	0.47186	0.373000	0.24621	0.533000	0.62120	AAT		0.438	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1		NM_015038	
KIAA1244	57221	broad.mit.edu	37	6	138628466	138628466	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr6:138628466C>T	ENST00000251691.4	+	23	4071	c.3905C>T	c.(3904-3906)gCc>gTc	p.A1302V		NM_020340.4	NP_065073.3			KIAA1244									p.A1231V(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTGTTCAGTGCCCTGGAAACA	0.502																																																	1	Substitution - Missense(1)	kidney(1)											222.0	213.0	216.0					6																	138628466		2203	4300	6503	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3905C>T	6.37:g.138628466C>T	ENSP00000251691:p.Ala1302Val	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	33	5.290843	0.95546	.	.	ENSG00000112379	ENST00000251691	T	0.04551	3.6	6.17	6.17	0.99709	Domain of unknown function DUF1981, SEC7 associated (1);	0.067323	0.64402	D	0.000016	T	0.05273	0.0140	N	0.16066	0.365	0.80722	D	1	D	0.56746	0.977	P	0.59703	0.862	T	0.60110	-0.7327	10	0.25106	T	0.35	-24.8163	20.8794	0.99867	0.0:1.0:0.0:0.0	.	1302	Q5TH69	BIG3_HUMAN	V	1302	ENSP00000251691:A1302V	ENSP00000251691:A1302V	A	+	2	0	KIAA1244	138670159	1.000000	0.71417	0.999000	0.59377	0.622000	0.37654	7.538000	0.82048	2.941000	0.99782	0.655000	0.94253	GCC		0.502	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4		NM_020340	
KLHL2	11275	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	166239048	166239048	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr4:166239048delA	ENST00000226725.6	+	14	1939	c.1680delA	c.(1678-1680)gtafs	p.V560fs	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Frame_Shift_Del_p.V463fs|KLHL2_ENST00000514860.1_Frame_Shift_Del_p.V564fs|KLHL2_ENST00000506761.1_Frame_Shift_Del_p.V394fs|KLHL2_ENST00000538127.1_Frame_Shift_Del_p.V472fs	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	560					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TGGCGTCAGTAGAATATTATA	0.378																																																	0													168.0	164.0	165.0					4																	166239048		2203	4300	6503	SO:0001589	frameshift_variant	11275			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1680delA	4.37:g.166239048delA	ENSP00000226725:p.Val560fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Frame_Shift_Del	DEL	ENST00000226725.6	37	CCDS34094.1																																																																																				0.378	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			
MAST4	375449	broad.mit.edu	37	5	66438350	66438350	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr5:66438350A>T	ENST00000403625.2	+	21	3014	c.2719A>T	c.(2719-2721)Agg>Tgg	p.R907W	MAST4_ENST00000403666.1_Missense_Mutation_p.R718W|MAST4_ENST00000405643.1_Missense_Mutation_p.R728W|MAST4_ENST00000404260.3_Missense_Mutation_p.R910W|MAST4_ENST00000261569.7_Missense_Mutation_p.R713W	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	910	AGC-kinase C-terminal.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.R910W(1)		breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATGTTCACACAGGTTTTCAAA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											61.0	60.0	61.0					5																	66438350		1899	4119	6018	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2719A>T	5.37:g.66438350A>T	ENSP00000385727:p.Arg907Trp	Somatic		WXS	Illumina GAIIx	Phase_I	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.04|12.04	1.818318|1.818318	0.32145|0.32145	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000443808|ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399	.|T;T;T;T;T	.|0.71222	.|-0.52;-0.53;-0.55;-0.55;-0.53	5.78|5.78	0.304|0.304	0.15796|0.15796	.|AGC-kinase, C-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.84488|0.84488	0.5483|0.5483	M|M	0.91354|0.91354	3.2|3.2	0.33616|0.33616	D|D	0.604249|0.604249	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	D|D	0.86770|0.86770	0.1972|0.1972	5|10	.|0.87932	.|D	.|0	-27.2622|-27.2622	10.3663|10.3663	0.44026|0.44026	0.4354:0.4543:0.0:0.1103|0.4354:0.4543:0.0:0.1103	.|.	.|728;910;713;718	.|E7EWQ5;O15021;O15021-2;O15021-3	.|.;MAST4_HUMAN;.;.	L|W	30|910;907;718;728;728;713;713	.|ENSP00000385048:R910W;ENSP00000385727:R907W;ENSP00000384313:R718W;ENSP00000384099:R728W;ENSP00000261569:R713W	.|ENSP00000261569:R713W	Q|R	+|+	2|1	0|2	MAST4|MAST4	66474106|66474106	0.328000|0.328000	0.24687|0.24687	0.447000|0.447000	0.26932|0.26932	0.003000|0.003000	0.03518|0.03518	0.930000|0.930000	0.28858|0.28858	-0.153000|-0.153000	0.11137|0.11137	-0.336000|-0.336000	0.08194|0.08194	CAG|AGG		0.428	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2			
MTMR8	55613	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	63488824	63488824	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chrX:63488824G>A	ENST00000374852.3	-	14	1775	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F	MTMR8_ENST00000453546.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	570						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(2)|p.L570F(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ATAAAGCCAAGAGGATTGGTC	0.468																																																	3	Whole gene deletion(2)|Substitution - Missense(1)	ovary(1)|large_intestine(1)|kidney(1)											71.0	61.0	64.0					X																	63488824		2203	4300	6503	SO:0001583	missense	55613			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.1708C>T	X.37:g.63488824G>A	ENSP00000363985:p.Leu570Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JT99|Q9NXP6	Missense_Mutation	SNP	ENST00000374852.3	37	CCDS14379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.991|9.991	1.230854|1.230854	0.22542|0.22542	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000374852;ENST00000247400|ENST00000442913	D|.	0.95103|.	-3.61|.	2.39|2.39	1.5|1.5	0.22942|0.22942	.|.	0.903441|.	0.08976|.	U|.	0.866571|.	T|T	0.20129|0.20129	0.0484|0.0484	N|N	0.14661|0.14661	0.345|0.345	0.27591|0.27591	N|N	0.949264|0.949264	P|.	0.50617|.	0.937|.	B|.	0.37198|.	0.243|.	T|T	0.26087|0.26087	-1.0113|-1.0113	10|5	0.59425|.	D|.	0.04|.	.|.	6.4072|6.4072	0.21670|0.21670	0.0:0.3027:0.6973:0.0|0.0:0.3027:0.6973:0.0	.|.	570|.	Q96EF0|.	MTMR8_HUMAN|.	F|F	570;456|373	ENSP00000363985:L570F|.	ENSP00000247400:L456F|.	L|S	-|-	1|2	0|0	MTMR8|MTMR8	63405549|63405549	0.980000|0.980000	0.34600|0.34600	0.508000|0.508000	0.27688|0.27688	0.980000|0.980000	0.70556|0.70556	1.017000|1.017000	0.29989|0.29989	0.437000|0.437000	0.26423|0.26423	0.529000|0.529000	0.55759|0.55759	CTT|TCT		0.468	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056949.2		NM_017677	
NCAPG	64151	broad.mit.edu;hgsc.bcm.edu	37	4	17819616	17819616	+	Silent	SNP	C	C	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr4:17819616C>G	ENST00000251496.2	+	7	1199	c.1023C>G	c.(1021-1023)gcC>gcG	p.A341A		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	341					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A341A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATTGGTGTGCCCTTTGTGAAT	0.338																																																	1	Substitution - coding silent(1)	kidney(1)											113.0	117.0	115.0					4																	17819616		2203	4300	6503	SO:0001819	synonymous_variant	64151			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1023C>G	4.37:g.17819616C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	ENST00000251496.2	37	CCDS3424.1																																																																																				0.338	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1		NM_022346	
NOM1	64434	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	156752728	156752728	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr7:156752728G>T	ENST00000275820.3	+	4	1507	c.1492G>T	c.(1492-1494)Gat>Tat	p.D498Y	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	498	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.D498Y(1)		endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CACCGAAAAAGATATTGAACT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											103.0	98.0	100.0					7																	156752728		2203	4300	6503	SO:0001583	missense	64434			AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1492G>T	7.37:g.156752728G>T	ENSP00000275820:p.Asp498Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.430003	0.83776	.	.	ENSG00000146909	ENST00000275820	T	0.23552	1.9	4.93	4.93	0.64822	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.59662	0.2210	M	0.89601	3.045	0.80722	D	1	D	0.63880	0.993	D	0.70487	0.969	T	0.70073	-0.4972	10	0.72032	D	0.01	-34.6046	18.1947	0.89817	0.0:0.0:1.0:0.0	.	498	Q5C9Z4	NOM1_HUMAN	Y	498	ENSP00000275820:D498Y	ENSP00000275820:D498Y	D	+	1	0	NOM1	156445489	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	8.866000	0.92307	2.283000	0.76528	0.585000	0.79938	GAT		0.388	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1		NM_138400	
OR1I1	126370	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15198107	15198107	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr19:15198107C>T	ENST00000209540.2	+	1	317	c.231C>T	c.(229-231)acC>acT	p.T77T		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	77						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T77T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCTCCACCACCGTCCCCAAGA	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											233.0	156.0	182.0					19																	15198107		2203	4300	6503	SO:0001819	synonymous_variant	126370			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.231C>T	19.37:g.15198107C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q96R92	Silent	SNP	ENST00000209540.2	37	CCDS32937.1																																																																																				0.542	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			
NR2F6	2063	broad.mit.edu;hgsc.bcm.edu	37	19	17346354	17346354	+	Silent	SNP	G	G	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr19:17346354G>A	ENST00000291442.3	-	3	1613	c.894C>T	c.(892-894)gaC>gaT	p.D298D		NM_005234.3	NP_005225.2	P10588	NR2F6_HUMAN	nuclear receptor subfamily 2, group F, member 6	298	Ligand-binding. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|entrainment of circadian clock by photoperiod (GO:0043153)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone receptor activity (GO:0004887)|zinc ion binding (GO:0008270)	p.D298D(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						ACTCGGCCGAGTCGACCTGCA	0.701																																																	1	Substitution - coding silent(1)	kidney(1)											8.0	8.0	8.0					19																	17346354		2063	4060	6123	SO:0001819	synonymous_variant	2063			X12794	CCDS12352.1	19p13.11	2013-09-20			ENSG00000160113	ENSG00000160113		"""Nuclear hormone receptors"""	7977	protein-coding gene	gene with protein product		132880		ERBAL2		2905047	Standard	NM_005234		Approved	EAR-2	uc002nfq.3	P10588	OTTHUMG00000182728	ENST00000291442.3:c.894C>T	19.37:g.17346354G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RC68|Q5XGA0|Q6P586|Q9BUE8	Silent	SNP	ENST00000291442.3	37	CCDS12352.1																																																																																				0.701	NR2F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463325.1			
OR2AG2	338755	hgsc.bcm.edu;ucsc.edu	37	11	6789789	6789789	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr11:6789789delT	ENST00000338569.2	-	1	497	c.400delA	c.(400-402)accfs	p.T134fs		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	134						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTCATGAGGGTCATGTATTTC	0.522																																																	0													100.0	83.0	89.0					11																	6789789		2201	4296	6497	SO:0001589	frameshift_variant	338755			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.400delA	11.37:g.6789789delT	ENSP00000342697:p.Thr134fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000338569.2	37	CCDS31413.1																																																																																				0.522	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1		NM_001004490	
OR2G2	81470	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247752396	247752396	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr1:247752396C>T	ENST00000320065.1	+	1	735	c.735C>T	c.(733-735)ttC>ttT	p.F245F	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F245F(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GGACCTGCTTCTCCCACCTGa	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											144.0	128.0	134.0					1																	247752396		2203	4300	6503	SO:0001819	synonymous_variant	81470			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.735C>T	1.37:g.247752396C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	CCDS31092.1																																																																																				0.507	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			
OR52J3	119679	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5068193	5068193	+	Silent	SNP	T	T	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr11:5068193T>C	ENST00000380370.1	+	1	438	c.438T>C	c.(436-438)atT>atC	p.I146I		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I146I(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGTGGGCATTAGCATGTGCA	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											191.0	123.0	146.0					11																	5068193		2201	4298	6499	SO:0001819	synonymous_variant	119679			AB065530	CCDS31370.1	11p15.4	2012-08-09			ENSG00000205495	ENSG00000205495		"""GPCR / Class A : Olfactory receptors"""	14799	protein-coding gene	gene with protein product							Standard	NM_001001916		Approved		uc010qyv.2	Q8NH60	OTTHUMG00000066600	ENST00000380370.1:c.438T>C	11.37:g.5068193T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFE4	Silent	SNP	ENST00000380370.1	37	CCDS31370.1																																																																																				0.473	OR52J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142807.1		NM_001001916	
OR6N1	128372	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	158735823	158735823	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr1:158735823G>A	ENST00000335094.2	-	1	669	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S217F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					CTGCACATAGGAGCAGAGGAT	0.493																																																	1	Substitution - Missense(1)	kidney(1)											121.0	122.0	122.0					1																	158735823		2203	4300	6503	SO:0001583	missense	128372			BK004199	CCDS30905.1	1q23.1	2012-08-09			ENSG00000197403	ENSG00000197403		"""GPCR / Class A : Olfactory receptors"""	15034	protein-coding gene	gene with protein product							Standard	NM_001005185		Approved		uc010piq.2	Q8NGY5	OTTHUMG00000022774	ENST00000335094.2:c.650C>T	1.37:g.158735823G>A	ENSP00000335535:p.Ser217Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUU8|Q96R35	Missense_Mutation	SNP	ENST00000335094.2	37	CCDS30905.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.159541	0.57368	.	.	ENSG00000197403	ENST00000335094	T	0.42513	0.97	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45867	D	0.000326	T	0.67683	0.2919	M	0.91768	3.24	0.49582	D	0.999807	D	0.89917	1.0	D	0.91635	0.999	T	0.76132	-0.3071	10	0.87932	D	0	-25.1408	16.9793	0.86323	0.0:0.0:1.0:0.0	.	217	Q8NGY5	OR6N1_HUMAN	F	217	ENSP00000335535:S217F	ENSP00000335535:S217F	S	-	2	0	OR6N1	157002447	1.000000	0.71417	1.000000	0.80357	0.323000	0.28346	6.441000	0.73439	2.513000	0.84729	0.655000	0.94253	TCC		0.493	OR6N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059067.1		NM_001005185	
PCSK5	5125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	78774010	78774010	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr9:78774010C>T	ENST00000545128.1	+	12	2080	c.1542C>T	c.(1540-1542)atC>atT	p.I514I	PCSK5_ENST00000376752.4_Silent_p.I514I|PCSK5_ENST00000376767.3_Silent_p.I514I	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	514					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)	p.I514I(3)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATCACCATCACCCACCCCA	0.577																																																	3	Substitution - coding silent(3)	kidney(3)											170.0	137.0	148.0					9																	78774010		2203	4300	6503	SO:0001819	synonymous_variant	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1542C>T	9.37:g.78774010C>T		Somatic		WXS	Illumina HiSeq	Phase_I	F5H2G7|Q13527|Q96EP4	Silent	SNP	ENST00000545128.1	37	CCDS55320.1																																																																																				0.577	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
PI4KAP2	375133	broad.mit.edu	37	22	21838301	21838301	+	RNA	SNP	C	C	T	rs199663506	byFrequency	TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr22:21838301C>T	ENST00000450651.1	-	0	1026							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.V214I(1)		endometrium(3)|urinary_tract(1)	4						TACTTGATGACAGCCGACACG	0.493													.|||	3031	0.605232	0.4592	0.6585	5008	,	,		6307	0.5942		0.9195	False		,,,				2504	0.453																1	Substitution - Missense(1)	kidney(1)											8.0	2.0	4.0					22																	21838301		597	959	1556			375133					22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21838301C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q6ICJ0|Q6ZT68|Q8WUK7	Missense_Mutation	SNP	ENST00000450651.1	37																																																																																					0.493	PI4KAP2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334908.1			
POLR2B	5431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	57860916	57860916	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr4:57860916A>G	ENST00000381227.1	+	6	873	c.460A>G	c.(460-462)Att>Gtt	p.I154V	POLR2B_ENST00000314595.5_Missense_Mutation_p.I154V|POLR2B_ENST00000441246.2_Missense_Mutation_p.I147V|snoU13_ENST00000459266.1_RNA|POLR2B_ENST00000431623.2_Missense_Mutation_p.I79V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	154					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.I154V(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAAAATTCCAATTATGTTGCG	0.363																																																	1	Substitution - Missense(1)	kidney(1)											68.0	72.0	71.0					4																	57860916		2203	4300	6503	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.460A>G	4.37:g.57860916A>G	ENSP00000370625:p.Ile154Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.012620	0.54468	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.77	5.77	0.91146	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.52224	0.1721	N	0.25890	0.77	0.80722	D	1	B;B	0.14438	0.01;0.01	B;B	0.22880	0.042;0.042	T	0.45963	-0.9225	10	0.37606	T	0.19	.	16.0891	0.81080	1.0:0.0:0.0:0.0	.	79;154	C9J4M6;P30876	.;RPB2_HUMAN	V	154;79;147;154	ENSP00000370625:I154V;ENSP00000391096:I79V;ENSP00000391452:I147V;ENSP00000312735:I154V	ENSP00000312735:I154V	I	+	1	0	POLR2B	57555673	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.411000	0.80078	2.208000	0.71279	0.455000	0.32223	ATT		0.363	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1		NM_000938	
PON3	5446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	95019500	95019500	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr7:95019500T>A	ENST00000265627.5	-	3	177	c.167A>T	c.(166-168)gAt>gTt	p.D56V	PON3_ENST00000475439.1_5'UTR|PON3_ENST00000427422.1_Missense_Mutation_p.D56V|PON1_ENST00000542556.1_Intron|PON3_ENST00000451904.1_Missense_Mutation_p.D56V	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	56					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)	p.D56V(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	AGGAAGTATATCAATATCTTC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											202.0	212.0	209.0					7																	95019500		2203	4300	6503	SO:0001583	missense	5446			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.167A>T	7.37:g.95019500T>A	ENSP00000265627:p.Asp56Val	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	ENST00000265627.5	37	CCDS5639.1	.	.	.	.	.	.	.	.	.	.	T	9.330	1.060209	0.19987	.	.	ENSG00000105852	ENST00000265627;ENST00000427422	T;T	0.16743	2.32;2.32	4.93	4.93	0.64822	Six-bladed beta-propeller, TolB-like (1);	0.159870	0.56097	D	0.000040	T	0.33059	0.0850	L	0.48174	1.505	0.80722	D	1	D;B	0.89917	1.0;0.129	D;B	0.85130	0.997;0.068	T	0.03103	-1.1072	10	0.72032	D	0.01	-16.6422	11.1608	0.48514	0.0:0.0:0.0:1.0	.	56;56	B4E2I0;Q15166	.;PON3_HUMAN	V	56	ENSP00000265627:D56V;ENSP00000413276:D56V	ENSP00000265627:D56V	D	-	2	0	PON3	94857436	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	3.603000	0.54074	2.215000	0.71742	0.460000	0.39030	GAT		0.373	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333007.1		NM_000940	
PPP1R3A	5506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	113558913	113558913	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr7:113558913C>A	ENST00000284601.3	-	1	207	c.139G>T	c.(139-141)Gat>Tat	p.D47Y		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	47					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.D47Y(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCAGAAGAATCAGAACCTCGT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											83.0	81.0	82.0					7																	113558913		2203	4300	6503	SO:0001583	missense	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.139G>T	7.37:g.113558913C>A	ENSP00000284601:p.Asp47Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.186447	0.57909	.	.	ENSG00000154415	ENST00000284601	T	0.17370	2.28	6.17	6.17	0.99709	.	0.607817	0.17550	N	0.170216	T	0.28366	0.0701	L	0.50333	1.59	0.27436	N	0.953879	D	0.57899	0.981	P	0.50231	0.635	T	0.05599	-1.0875	10	0.56958	D	0.05	-0.1211	17.0623	0.86550	0.1275:0.8725:0.0:0.0	.	47	Q16821	PPR3A_HUMAN	Y	47	ENSP00000284601:D47Y	ENSP00000284601:D47Y	D	-	1	0	PPP1R3A	113346149	0.532000	0.26346	1.000000	0.80357	0.998000	0.95712	2.154000	0.42291	2.941000	0.99782	0.655000	0.94253	GAT		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1		NM_002711	
HELZ2	85441	broad.mit.edu;hgsc.bcm.edu	37	20	62193088	62193088	+	Silent	SNP	C	C	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr20:62193088C>G	ENST00000467148.1	-	12	6771	c.6702G>C	c.(6700-6702)ctG>ctC	p.L2234L	HELZ2_ENST00000427522.2_Silent_p.L1665L	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2234	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L2234L(1)									CCATCCTTCTCAGGAGCAGTC	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											28.0	27.0	28.0					20																	62193088		2195	4295	6490	SO:0001819	synonymous_variant	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.6702G>C	20.37:g.62193088C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	ENST00000467148.1	37	CCDS33508.1																																																																																				0.667	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1		NM_001037335	
PTPN21	11099	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	88983493	88983493	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr14:88983493T>C	ENST00000556564.1	-	3	577	c.293A>G	c.(292-294)tAt>tGt	p.Y98C	RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000328736.3_Missense_Mutation_p.Y98C|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	98	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)	p.Y98C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CACTCCAAAATAGACGGTAGG	0.428																																																	1	Substitution - Missense(1)	kidney(1)											121.0	111.0	114.0					14																	88983493		2203	4300	6503	SO:0001583	missense	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.293A>G	14.37:g.88983493T>C	ENSP00000452414:p.Tyr98Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	T	13.39	2.223834	0.39300	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.77229	-1.08;-1.08;-1.08	5.77	3.38	0.38709	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);FERM conserved site (1);	0.077223	0.53938	D	0.000047	T	0.77638	0.4160	L	0.41573	1.285	0.38202	D	0.940215	P;D	0.55800	0.932;0.973	P;P	0.61800	0.729;0.894	T	0.76854	-0.2805	10	0.72032	D	0.01	.	4.412	0.11438	0.1226:0.0667:0.1282:0.6826	.	98;98	G3V3S6;Q16825	.;PTN21_HUMAN	C	98	ENSP00000330276:Y98C;ENSP00000452414:Y98C;ENSP00000451401:Y98C	ENSP00000330276:Y98C	Y	-	2	0	PTPN21	88053246	1.000000	0.71417	0.086000	0.20670	0.057000	0.15508	4.196000	0.58407	0.436000	0.26393	-0.379000	0.06801	TAT		0.428	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			
RBMX	27316	hgsc.bcm.edu	37	X	135956571	135956572	+	Frame_Shift_Ins	INS	-	-	GG	rs369155856		TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chrX:135956571_135956572insGG	ENST00000320676.7	-	9	1059_1060	c.905_906insCC	c.(904-906)ccafs	p.P302fs	RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000565438.1_Frame_Shift_Ins_p.P174fs|RBMX_ENST00000570135.1_Frame_Shift_Ins_p.P167fs|RBMX_ENST00000431446.3_Intron|RBMX_ENST00000496459.2_5'Flank	NM_002139.3	NP_002130.2	P38159	RBMX_HUMAN	RNA binding motif protein, X-linked	302					cellular response to interleukin-1 (GO:0071347)|gene expression (GO:0010467)|membrane protein ectodomain proteolysis (GO:0006509)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|osteoblast differentiation (GO:0001649)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homooligomerization (GO:0051260)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|supraspliceosomal complex (GO:0044530)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACCATAAGATGGCGGGGGCCC	0.465																																																	0																																										SO:0001589	frameshift_variant	27316				CCDS14661.1, CCDS55510.1	Xq26	2013-05-23	2003-09-12		ENSG00000147274	ENSG00000147274		"""RNA binding motif (RRM) containing"""	9910	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein G"""	300199	"""RNA binding motif protein, X chromosome"""			10391206, 10391207	Standard	NM_002139		Approved	RNMX, hnRNP-G, HNRNPG	uc004fae.2	P38159	OTTHUMG00000022517	ENST00000320676.7:c.904_905dupCC	X.37:g.135956572_135956573dupGG	ENSP00000359645:p.Pro302fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4E3U4|D3DWH0|E9PG86|Q5JQ67|Q8N8Y7|Q969R3	Frame_Shift_Ins	INS	ENST00000320676.7	37	CCDS14661.1																																																																																				0.465	RBMX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058507.1		NM_002139	
SEMA6C	10500	broad.mit.edu;hgsc.bcm.edu	37	1	151105698	151105698	+	Silent	SNP	C	C	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr1:151105698C>T	ENST00000341697.3	-	19	3746	c.2055G>A	c.(2053-2055)ccG>ccA	p.P685P	RP11-68I18.10_ENST00000563624.1_RNA|SEMA6C_ENST00000479820.1_5'Flank			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	685					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P685P(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCCGGAGGCGGCAGGAAGG	0.771																																																	1	Substitution - coding silent(1)	kidney(1)											5.0	8.0	7.0					1																	151105698		1996	3892	5888	SO:0001819	synonymous_variant	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.2055G>A	1.37:g.151105698C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Silent	SNP	ENST00000341697.3	37	CCDS984.1																																																																																				0.771	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000034074.1		NM_030913	
SLC26A5	375611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	103048401	103048401	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr7:103048401A>G	ENST00000306312.3	-	8	1046	c.785T>C	c.(784-786)cTa>cCa	p.L262P	SLC26A5_ENST00000432958.2_Missense_Mutation_p.L262P|SLC26A5_ENST00000339444.6_Missense_Mutation_p.L262P|SLC26A5_ENST00000393735.2_Missense_Mutation_p.L262P|SLC26A5_ENST00000393727.1_Missense_Mutation_p.L262P|SLC26A5_ENST00000356767.4_Missense_Mutation_p.L262P|SLC26A5_ENST00000354356.4_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.L262P|SLC26A5_ENST00000393730.1_Missense_Mutation_p.L262P|SLC26A5_ENST00000393729.1_Missense_Mutation_p.L225P	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	262					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)	p.L262P(3)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCCGACGCCTAGGGAACACAC	0.443																																																	3	Substitution - Missense(3)	kidney(3)											112.0	99.0	103.0					7																	103048401		2203	4300	6503	SO:0001583	missense	375611			AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.785T>C	7.37:g.103048401A>G	ENSP00000304783:p.Leu262Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.421486	0.83559	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.36	5.36	0.76844	Sulphate transporter (1);	0.150461	0.44483	D	0.000446	D	0.97324	0.9125	M	0.91354	3.2	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.993;0.996;0.991;0.988	D	0.98292	1.0514	10	0.87932	D	0	.	15.6584	0.77162	1.0:0.0:0.0:0.0	.	262;262;262;262;262	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	P	262;262;262;262;262;262;225;262;262	ENSP00000342396:L262P;ENSP00000349210:L262P;ENSP00000377336:L262P;ENSP00000304783:L262P;ENSP00000377331:L262P;ENSP00000389733:L262P;ENSP00000377330:L225P;ENSP00000377328:L262P;ENSP00000377324:L262P	ENSP00000304783:L262P	L	-	2	0	SLC26A5	102835637	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.033000	0.88852	2.160000	0.67779	0.528000	0.53228	CTA		0.443	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1		NM_198999	
SLITRK5	26050	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	88329824	88329824	+	Silent	SNP	A	A	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr13:88329824A>G	ENST00000325089.6	+	2	2400	c.2181A>G	c.(2179-2181)ccA>ccG	p.P727P	SLITRK5_ENST00000400028.3_Silent_p.P486P	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	727					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)		p.P727P(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCGGCCACCCACACGCGCACG	0.662																																																	1	Substitution - coding silent(1)	kidney(1)											41.0	47.0	45.0					13																	88329824		2197	4291	6488	SO:0001819	synonymous_variant	26050			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.2181A>G	13.37:g.88329824A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KNB8|B4DSH5|Q5VT81	Silent	SNP	ENST00000325089.6	37	CCDS9465.1																																																																																				0.662	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045416.3			
SMTNL2	342527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	4500589	4500589	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr17:4500589G>C	ENST00000389313.4	+	7	1297	c.1230G>C	c.(1228-1230)aaG>aaC	p.K410N	SMTNL2_ENST00000338859.4_Missense_Mutation_p.K266N	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	410	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.							p.K266N(1)|p.K410N(1)		breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGAGGCAGAAGAACTTCGAGC	0.622																																																	2	Substitution - Missense(2)	kidney(2)											116.0	99.0	105.0					17																	4500589		2203	4300	6503	SO:0001583	missense	342527			AK124452	CCDS11048.1, CCDS45583.1	17p13.2	2006-04-26			ENSG00000188176	ENSG00000188176			24764	protein-coding gene	gene with protein product							Standard	NM_001114974		Approved	FLJ42461	uc002fyf.1	Q2TAL5	OTTHUMG00000132938	ENST00000389313.4:c.1230G>C	17.37:g.4500589G>C	ENSP00000373964:p.Lys410Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZVK6	Missense_Mutation	SNP	ENST00000389313.4	37	CCDS45583.1	.	.	.	.	.	.	.	.	.	.	G	16.78	3.216830	0.58452	.	.	ENSG00000188176	ENST00000338859;ENST00000389313	D;D	0.95069	-3.6;-3.6	5.24	5.24	0.73138	Calponin homology domain (5);	.	.	.	.	D	0.91054	0.7185	L	0.41710	1.295	0.39491	D	0.968045	P	0.37781	0.608	B	0.37731	0.257	D	0.91168	0.4966	9	0.52906	T	0.07	-38.3045	11.747	0.51825	0.0:0.0:0.8238:0.1762	.	410	Q2TAL5	SMTL2_HUMAN	N	266;410	ENSP00000345143:K266N;ENSP00000373964:K410N	ENSP00000345143:K266N	K	+	3	2	SMTNL2	4447338	0.719000	0.27986	1.000000	0.80357	0.904000	0.53231	-0.094000	0.11094	2.613000	0.88420	0.462000	0.41574	AAG		0.622	SMTNL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439129.1		NM_198501	
SON	6651	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	34924766	34924766	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr21:34924766C>A	ENST00000356577.4	+	3	3704	c.3229C>A	c.(3229-3231)Cca>Aca	p.P1077T	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.P1077T|SON_ENST00000300278.4_Missense_Mutation_p.P1077T|SON_ENST00000381679.4_Missense_Mutation_p.P1077T	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1077	14 X 6 AA repeats of [ED]-R-S-M-M-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P1077T(2)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CATGATGTCCCCAATGGCTGA	0.512																																																	2	Substitution - Missense(2)	kidney(2)											148.0	133.0	138.0					21																	34924766		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3229C>A	21.37:g.34924766C>A	ENSP00000348984:p.Pro1077Thr	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.527540	0.44969	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.27890	1.64;1.64;1.64;1.64	5.92	5.92	0.95590	.	0.000000	0.51477	D	0.000083	T	0.53094	0.1775	L	0.54323	1.7	0.36843	D	0.887515	D;D;P;D;D	0.89917	1.0;1.0;0.946;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.998;0.636;0.999;0.999	T	0.57118	-0.7866	10	0.66056	D	0.02	.	17.8019	0.88590	0.0:1.0:0.0:0.0	.	1077;1077;758;1077;1077	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	T	1077	ENSP00000348984:P1077T;ENSP00000290239:P1077T;ENSP00000300278:P1077T;ENSP00000371095:P1077T	ENSP00000290239:P1077T	P	+	1	0	SON	33846636	0.999000	0.42202	0.998000	0.56505	0.998000	0.95712	2.481000	0.45215	2.795000	0.96236	0.655000	0.94253	CCA		0.512	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2		NM_138927	
SPTBN1	6711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	54870209	54870209	+	Silent	SNP	T	T	C			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr2:54870209T>C	ENST00000356805.4	+	19	4229	c.3948T>C	c.(3946-3948)caT>caC	p.H1316H	SPTBN1_ENST00000333896.5_Silent_p.H1303H	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1316					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.H1316H(1)|p.H1303H(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGTTGAAGCATCAAGCATTTA	0.418																																																	2	Substitution - coding silent(2)	kidney(2)											105.0	105.0	105.0					2																	54870209		2203	4300	6503	SO:0001819	synonymous_variant	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.3948T>C	2.37:g.54870209T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Silent	SNP	ENST00000356805.4	37	CCDS33198.1																																																																																				0.418	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			
SULT1C3	442038	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	108872055	108872055	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr2:108872055G>A	ENST00000329106.2	+	4	427	c.427G>A	c.(427-429)Gat>Aat	p.D143N	SULT1C3_ENST00000376700.1_Missense_Mutation_p.D143N	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	143					sulfur compound metabolic process (GO:0006790)	cytoplasm (GO:0005737)	alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062)	p.D143N(1)		breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AAATCCCAAGGATTGCCTGGT	0.428																																																	1	Substitution - Missense(1)	kidney(1)											125.0	122.0	123.0					2																	108872055		2203	4300	6503	SO:0001583	missense	442038			BC146362	CCDS33267.1	2q12.3	2007-07-26			ENSG00000196228	ENSG00000196228		"""Sulfotransferases, cytosolic"""	33543	protein-coding gene	gene with protein product						14676822, 17425406	Standard	NM_001008743		Approved		uc010ywo.2	Q6IMI6	OTTHUMG00000153227	ENST00000329106.2:c.427G>A	2.37:g.108872055G>A	ENSP00000333310:p.Asp143Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IMI5	Missense_Mutation	SNP	ENST00000329106.2	37	CCDS33267.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454580	0.63290	.	.	ENSG00000196228	ENST00000329106;ENST00000376700	T;T	0.03889	3.77;3.77	3.58	3.58	0.41010	Sulfotransferase domain (1);	0.000000	0.64402	D	0.000014	T	0.38134	0.1029	H	0.99261	4.49	0.58432	D	0.999992	D	0.89917	1.0	D	0.91635	0.999	T	0.65841	-0.6070	10	0.87932	D	0	.	14.7244	0.69332	0.0:0.0:1.0:0.0	.	143	Q6IMI6	ST1C3_HUMAN	N	143	ENSP00000333310:D143N;ENSP00000365890:D143N	ENSP00000333310:D143N	D	+	1	0	SULT1C3	108238487	1.000000	0.71417	0.791000	0.31998	0.222000	0.24845	8.109000	0.89561	1.989000	0.58080	0.650000	0.86243	GAT		0.428	SULT1C3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330255.1		NM_001008743	
SUSD2	56241	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	24579610	24579610	+	Silent	SNP	G	G	T			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr22:24579610G>T	ENST00000358321.3	+	3	696	c.435G>T	c.(433-435)ctG>ctT	p.L145L		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	145					immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.L145L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCACCTGGCTGGCTGGTGAGC	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	62.0	65.0					22																	24579610		2203	4300	6503	SO:0001819	synonymous_variant	56241			AK026431	CCDS13824.1	22q11-q12	2005-08-16			ENSG00000099994	ENSG00000099994			30667	protein-coding gene	gene with protein product		615825				12477932	Standard	NM_019601		Approved	BK65A6.2, FLJ22778	uc002zzn.1	Q9UGT4	OTTHUMG00000150792	ENST00000358321.3:c.435G>T	22.37:g.24579610G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H5Y6	Silent	SNP	ENST00000358321.3	37	CCDS13824.1																																																																																				0.642	SUSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320088.1		NM_019601	
TBP	6908	hgsc.bcm.edu	37	6	170871085	170871085	+	Silent	SNP	G	G	A	rs566225355	byFrequency	TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr6:170871085G>A	ENST00000392092.2	+	3	540	c.261G>A	c.(259-261)caG>caA	p.Q87Q	TBP_ENST00000230354.6_Silent_p.Q87Q|TBP_ENST00000540980.1_Silent_p.Q67Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	87	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.617													G|||	12	0.00239617	0.0015	0.0029	5008	,	,		13588	0.005		0.002	False		,,,				2504	0.001																0																																										SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.261G>A	6.37:g.170871085G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	CCDS5315.1																																																																																				0.617	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2		NM_003194	
TEX15	56154	broad.mit.edu;ucsc.edu	37	8	30700538	30700538	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr8:30700538G>A	ENST00000256246.2	-	1	6070	c.5996C>T	c.(5995-5997)gCa>gTa	p.A1999V		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1999					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.A1999V(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTAAGGTCTGCAAATTCAGC	0.303																																																	1	Substitution - Missense(1)	kidney(1)											35.0	37.0	36.0					8																	30700538		2201	4291	6492	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5996C>T	8.37:g.30700538G>A	ENSP00000256246:p.Ala1999Val	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893726	0.72639	.	.	ENSG00000133863	ENST00000256246	T	0.22336	1.96	5.73	5.73	0.89815	.	0.226724	0.30593	N	0.009299	T	0.45316	0.1336	L	0.59436	1.845	0.38610	D	0.950885	D	0.89917	1.0	D	0.74674	0.984	T	0.40757	-0.9546	10	0.87932	D	0	.	18.6784	0.91537	0.0:0.0:1.0:0.0	.	1999	Q9BXT5	TEX15_HUMAN	V	1999	ENSP00000256246:A1999V	ENSP00000256246:A1999V	A	-	2	0	TEX15	30820080	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	4.553000	0.60753	2.718000	0.92993	0.585000	0.79938	GCA		0.303	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179433486	179433486	+	Silent	SNP	G	G	A			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr2:179433486G>A	ENST00000591111.1	-	276	72674	c.72450C>T	c.(72448-72450)gcC>gcT	p.A24150A	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Silent_p.A16851A|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.A23223A|TTN_ENST00000460472.2_Silent_p.A16726A|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.A25791A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.A16918A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24150	Fibronectin type-III 75. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.A16918A(1)|p.A23221A(1)|p.A16851A(1)|p.A16726A(1)|p.A23223A(1)		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)			CCAGATCTTTGGCAACTATTG	0.413																																																	5	Substitution - coding silent(5)	kidney(5)											78.0	74.0	75.0					2																	179433486		1886	4104	5990	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72450C>T	2.37:g.179433486G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
ZNFX1	57169	broad.mit.edu;hgsc.bcm.edu	37	20	47874193	47874193	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5988-01A-11D-1669-08	TCGA-CZ-5988-11A-01D-1669-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	668172b3-1e6f-4362-8432-3651925b86a6	6cd200bc-7468-4a2f-aab4-51e803c2418b	g.chr20:47874193C>G	ENST00000396105.1	-	8	2671	c.2425G>C	c.(2425-2427)Gaa>Caa	p.E809Q	ZNFX1_ENST00000371754.4_Missense_Mutation_p.E809Q|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E809Q	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	809							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E809Q(2)|p.E613Q(1)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			tcatccccttctgcctGGGCT	0.488																																																	3	Substitution - Missense(3)	kidney(3)											62.0	53.0	56.0					20																	47874193		2203	4300	6503	SO:0001583	missense	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2425G>C	20.37:g.47874193C>G	ENSP00000379412:p.Glu809Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382231	0.42207	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.86865	-1.92;-2.18;-2.18;-0.85;-1.58	5.87	4.92	0.64577	.	0.352371	0.32533	N	0.005962	D	0.87888	0.6291	L	0.37630	1.12	0.45216	D	0.99822	D	0.67145	0.996	P	0.62089	0.898	D	0.84807	0.0788	10	0.18710	T	0.47	-15.3712	13.6102	0.62074	0.0:0.925:0.0:0.075	.	809	Q9P2E3	ZNFX1_HUMAN	Q	809;809;809;809;809;613	ENSP00000360819:E809Q;ENSP00000360817:E809Q;ENSP00000379412:E809Q;ENSP00000360809:E809Q;ENSP00000413800:E613Q	ENSP00000360809:E809Q	E	-	1	0	ZNFX1	47307600	0.836000	0.29430	1.000000	0.80357	0.967000	0.64934	1.330000	0.33781	1.482000	0.48325	0.655000	0.94253	GAA		0.488	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2		NM_021035	
