#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
ACACB	32	broad.mit.edu;hgsc.bcm.edu	37	12	109660697	109660697	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr12:109660697T>C	ENST00000338432.7	+	26	3891	c.3772T>C	c.(3772-3774)Ttc>Ctc	p.F1258L	ACACB_ENST00000377854.5_Missense_Mutation_p.F1188L|ACACB_ENST00000377848.3_Missense_Mutation_p.F1258L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1258					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)	p.F1258L(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	CGGCCACCAGTTCTGCCCCGA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											81.0	58.0	65.0					12																	109660697		2203	4300	6503	SO:0001583	missense	32			U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.3772T>C	12.37:g.109660697T>C	ENSP00000341044:p.Phe1258Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	T	16.89	3.246325	0.59103	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.42131	0.98;0.98;0.98	5.07	5.07	0.68467	Acetyl-CoA carboxylase, central domain (1);	0.000000	0.85682	D	0.000000	T	0.59074	0.2167	M	0.75447	2.3	0.80722	D	1	D	0.65815	0.995	D	0.63957	0.92	T	0.57740	-0.7759	10	0.11794	T	0.64	.	15.1641	0.72807	0.0:0.0:0.0:1.0	.	1258	O00763	ACACB_HUMAN	L	1258;1258;1188;489	ENSP00000341044:F1258L;ENSP00000367079:F1258L;ENSP00000367085:F1188L	ENSP00000341044:F1258L	F	+	1	0	ACACB	108145080	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.232000	0.72313	2.043000	0.60533	0.528000	0.53228	TTC		0.602	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1		NM_001093	
IGHV3-16	28447	broad.mit.edu;ucsc.edu	37	14	106621957	106621958	+	RNA	DEL	GT	GT	-	rs370367321		TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	GT	GT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr14:106621957_106621958delGT	ENST00000390604.2	-	0	360_361									immunoglobulin heavy variable 3-16 (non-functional)																		GATACAGGGAGTTCCTGGAATT	0.53																																																	0																																												8755			M99655		14q32.33	2012-02-08	2008-08-22		ENSG00000211944	ENSG00000211944		"""Immunoglobulins / IGH locus"""	5583	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-16"""				Standard	NG_001019		Approved				OTTHUMG00000152273		14.37:g.106621957_106621958delGT		Somatic		WXS	Illumina GAIIx	Phase_I		Splice_Site	DEL	ENST00000390604.2	37																																																																																					0.530	IGHV3-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325661.1		NG_001019	
ADAMTS12	81792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	33751536	33751536	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:33751536delT	ENST00000504830.1	-	3	942	c.607delA	c.(607-609)accfs	p.T203fs	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.T203fs|ADAMTS12_ENST00000515401.1_Frame_Shift_Del_p.T203fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	203					cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCTCCTTGGTTTCTGGAACT	0.448										HNSCC(64;0.19)																																							0													143.0	141.0	142.0					5																	33751536		2203	4300	6503	SO:0001589	frameshift_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.607delA	5.37:g.33751536delT	ENSP00000422554:p.Thr203fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRN9|A5D6V6|Q6UWL3	Frame_Shift_Del	DEL	ENST00000504830.1	37	CCDS34140.1																																																																																				0.448	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2		NM_030955	
AK2	204	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	33487201	33487201	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:33487201G>T	ENST00000487289.1	-	3	338	c.323C>A	c.(322-324)gCa>gAa	p.A108E	AK2_ENST00000467905.1_Missense_Mutation_p.A108E|AK2_ENST00000354858.6_Missense_Mutation_p.A108E|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Missense_Mutation_p.A66E|AK2_ENST00000480134.1_Missense_Mutation_p.A108E|AK2_ENST00000373449.2_Missense_Mutation_p.A108E					adenylate kinase 2									p.A108E(2)		kidney(1)|large_intestine(2)|lung(4)|skin(1)	8		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CACCATTTCTGCCTGCCTCAC	0.418																																																	2	Substitution - Missense(2)	kidney(2)											46.0	48.0	47.0					1																	33487201		2203	4300	6503	SO:0001583	missense	204			U84371	CCDS373.1, CCDS374.1	1p35.1	2014-09-17			ENSG00000004455	ENSG00000004455	2.7.4.3	"""Adenylate kinases"""	362	protein-coding gene	gene with protein product		103020				8843353, 6961883	Standard	NM_013411		Approved		uc001bwp.2	P54819	OTTHUMG00000004131	ENST00000487289.1:c.323C>A	1.37:g.33487201G>T	ENSP00000446849:p.Ala108Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000487289.1	37		.	.	.	.	.	.	.	.	.	.	G	32	5.173039	0.94807	.	.	ENSG00000004455	ENST00000373449;ENST00000548033;ENST00000467905;ENST00000480134;ENST00000354858;ENST00000398192;ENST00000487289	D;D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51;-1.51	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	H	0.99958	5.055	0.80722	D	1	D;D;D;D	0.89917	0.999;0.987;1.0;0.999	D;P;D;D	0.77004	0.981;0.81;0.989;0.981	D	0.97478	1.0045	10	0.87932	D	0	-6.1733	20.1745	0.98175	0.0:0.0:1.0:0.0	.	108;66;108;108	P54819-5;F8VY04;P54819;P54819-2	.;.;KAD2_HUMAN;.	E	108;66;108;108;108;108;108	ENSP00000362548:A108E;ENSP00000449003:A66E;ENSP00000447082:A108E;ENSP00000450109:A108E;ENSP00000346921:A108E;ENSP00000446849:A108E	ENSP00000346921:A108E	A	-	2	0	AK2	33259788	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.366000	0.97143	2.941000	0.99782	0.655000	0.94253	GCA		0.418	AK2-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000011889.4		NM_001625	
ARHGAP31	57514	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	119099820	119099820	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:119099820C>G	ENST00000264245.4	+	4	950	c.418C>G	c.(418-420)Cca>Gca	p.P140A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	140	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)	p.P140A(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAGCTTCCTCCATCCCACTA	0.493																																					Pancreas(7;176 297 5394 51128 51241)												1	Substitution - Missense(1)	kidney(1)											88.0	90.0	89.0					3																	119099820		1999	4178	6177	SO:0001583	missense	57514				CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.418C>G	3.37:g.119099820C>G	ENSP00000264245:p.Pro140Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106853	0.37145	.	.	ENSG00000031081	ENST00000264245;ENST00000543280;ENST00000482743	T;T	0.19105	2.17;2.17	5.18	5.18	0.71444	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.173964	0.40385	N	0.001102	T	0.23171	0.0560	L	0.43701	1.375	0.38586	D	0.95029	B	0.19706	0.038	B	0.28638	0.092	T	0.04796	-1.0926	10	0.46703	T	0.11	.	16.0098	0.80391	0.0:1.0:0.0:0.0	.	140	Q2M1Z3	RHG31_HUMAN	A	140;140;111	ENSP00000264245:P140A;ENSP00000418429:P111A	ENSP00000264245:P140A	P	+	1	0	ARHGAP31	120582510	0.981000	0.34729	0.998000	0.56505	0.936000	0.57629	2.401000	0.44513	2.688000	0.91661	0.591000	0.81541	CCA		0.493	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			
ATP8B4	79895	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50336887	50336887	+	Silent	SNP	T	T	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr15:50336887T>A	ENST00000284509.6	-	5	345	c.204A>T	c.(202-204)ctA>ctT	p.L68L	ATP8B4_ENST00000559829.1_Silent_p.L68L|ATP8B4_ENST00000558959.1_5'Flank	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	68						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.L68L(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTCTGGAATTAGCTGAAACA	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											78.0	69.0	72.0					15																	50336887		2196	4295	6491	SO:0001819	synonymous_variant	79895			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.204A>T	15.37:g.50336887T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H727	Silent	SNP	ENST00000284509.6	37	CCDS32238.1																																																																																				0.358	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1		NM_024837	
BRWD1	54014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	40636400	40636400	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr21:40636400C>G	ENST00000333229.2	-	17	2198	c.1871G>C	c.(1870-1872)gGc>gCc	p.G624A	BRWD1_ENST00000342449.3_Missense_Mutation_p.G624A|BRWD1_ENST00000380800.3_Missense_Mutation_p.G624A	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	624					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.G624A(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGCCACATAGCCCAGCTGTGG	0.323																																					Melanoma(170;988 1986 4794 16843 39731)												2	Substitution - Missense(2)	kidney(2)											85.0	77.0	80.0					21																	40636400		2203	4300	6503	SO:0001583	missense	54014			AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1871G>C	21.37:g.40636400C>G	ENSP00000330753:p.Gly624Ala	Somatic		WXS	Illumina HiSeq	Phase_I	C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Missense_Mutation	SNP	ENST00000333229.2	37	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.647418	0.67358	.	.	ENSG00000185658	ENST00000333229;ENST00000342449;ENST00000380800	T;T;T	0.61392	0.11;0.17;0.24	5.32	5.32	0.75619	.	0.000000	0.64402	D	0.000002	T	0.76278	0.3965	M	0.70275	2.135	0.80722	D	1	D;D;P;D	0.89917	0.999;0.998;0.938;1.0	D;D;D;D	0.87578	0.996;0.977;0.911;0.998	T	0.76844	-0.2809	10	0.51188	T	0.08	-6.5097	19.066	0.93110	0.0:1.0:0.0:0.0	.	335;335;624;624	Q5R2U6;Q5R2U8;Q9NSI6-2;Q9NSI6	.;.;.;BRWD1_HUMAN	A	624	ENSP00000330753:G624A;ENSP00000344333:G624A;ENSP00000370178:G624A	ENSP00000330753:G624A	G	-	2	0	BRWD1	39558270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.674000	0.68117	2.522000	0.85027	0.650000	0.86243	GGC		0.323	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656	
PARPBP	55010	hgsc.bcm.edu	37	12	102559621	102559621	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr12:102559621delG	ENST00000358383.5	+	6	826	c.781delG	c.(781-783)gacfs	p.D261fs	PARPBP_ENST00000535811.1_Intron|PARPBP_ENST00000541394.1_Frame_Shift_Del_p.D338fs|PARPBP_ENST00000392911.2_Frame_Shift_Del_p.D180fs|PARPBP_ENST00000543784.1_Frame_Shift_Del_p.D147fs|PARPBP_ENST00000378128.3_Frame_Shift_Del_p.D261fs|PARPBP_ENST00000327680.2_Frame_Shift_Del_p.D180fs			Q9NWS1	PARI_HUMAN	PARP1 binding protein	261					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						TAATTTCATTGACAAATTAGA	0.303																																																	0													89.0	94.0	93.0					12																	102559621		2203	4300	6503	SO:0001589	frameshift_variant	0			AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.781delG	12.37:g.102559621delG	ENSP00000351153:p.Asp261fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Frame_Shift_Del	DEL	ENST00000358383.5	37	CCDS9090.2																																																																																				0.303	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2		NM_017915	
CTC1	80169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8141397	8141397	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:8141397G>A	ENST00000315684.8	-	4	606	c.599C>T	c.(598-600)cCt>cTt	p.P200L	CTC1_ENST00000581671.1_5'UTR	NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	200					bone marrow development (GO:0048539)|cellular response to DNA damage stimulus (GO:0006974)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organism growth (GO:0035264)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|replicative senescence (GO:0090399)|spleen development (GO:0048536)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)|thymus development (GO:0048538)	nuclear chromosome, telomeric region (GO:0000784)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)	p.P200L(1)		NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						GACAGGGATAGGCGTGACGGG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											73.0	78.0	76.0					17																	8141397		1989	4168	6157	SO:0001583	missense	0			AL831955	CCDS42259.1	17p13.1	2011-02-21	2011-02-21	2011-02-21	ENSG00000178971	ENSG00000178971			26169	protein-coding gene	gene with protein product	"""conserved telomere maintenance component 1"", ""alpha accessory factor 132"", ""conserved telomere capping protein 1"""	613129	"""tmp494178"", ""chromosome 17 open reading frame 68"""	C17orf68		19854130, 19854131	Standard	NM_025099		Approved	FLJ22170, AAF132	uc002gkq.4	Q2NKJ3		ENST00000315684.8:c.599C>T	17.37:g.8141397G>A	ENSP00000313759:p.Pro200Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KR66|C9JEX5|Q1PCD1|Q2TBE3|Q8N3S6|Q9H6L0	Missense_Mutation	SNP	ENST00000315684.8	37	CCDS42259.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184185	0.57800	.	.	ENSG00000178971	ENST00000315684;ENST00000449476	D;D	0.83163	-1.69;-1.69	5.51	5.51	0.81932	.	0.346611	0.28317	N	0.015797	D	0.89054	0.6606	M	0.68317	2.08	0.26652	N	0.972088	D	0.67145	0.996	D	0.65573	0.936	T	0.82940	-0.0208	10	0.51188	T	0.08	-18.3149	14.7928	0.69854	0.0:0.0:1.0:0.0	.	200	Q2NKJ3	CTC1_HUMAN	L	200	ENSP00000313759:P200L;ENSP00000396018:P200L	ENSP00000313759:P200L	P	-	2	0	CTC1	8082122	0.725000	0.28048	0.196000	0.23383	0.547000	0.35210	1.962000	0.40442	2.873000	0.98535	0.561000	0.74099	CCT		0.587	CTC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442012.1		NM_025099	
AXDND1	126859	hgsc.bcm.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs200097954|rs368406759|rs79330752|rs6425573	byFrequency	TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	AAGAAC	AAGAAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316																																																	1	Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(1)								750,3386		64,622,1382						-7.3	0.0		dbSNP_131	50	2737,5481		321,2095,1693	no	coding	AXDND1	NM_144696.4		385,2717,3075	A1A1,A1R,RR		33.3049,18.1335,28.2257				3487,8867				SO:0001651	inframe_deletion	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2969_2974delAAGAAC	1.37:g.179504035_179504040delAAGAAC	ENSP00000356590:p.Glu991_Gln992del	Somatic		WXS	Illumina HiSeq	Phase_I	Q6AWB2|Q96LJ3|Q96M01	In_Frame_Del	DEL	ENST00000367618.3	37	CCDS30948.1																																																																																				0.316	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1		NM_144696	
C1orf56	54964	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	151021076	151021076	+	Silent	SNP	A	A	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:151021076A>G	ENST00000368926.5	+	1	861	c.753A>G	c.(751-753)caA>caG	p.Q251Q	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	251						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.Q251Q(1)		endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|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)			GCACCTATCAACAATGTCCCT	0.617											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(146;891 3320 6873)												1	Substitution - coding silent(1)	kidney(1)											125.0	131.0	129.0					1																	151021076		2203	4300	6503	SO:0001819	synonymous_variant	54964			BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.753A>G	1.37:g.151021076A>G		Somatic	1737	WXS	Illumina HiSeq	Phase_I	B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	37	CCDS980.1																																																																																				0.617	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1		NM_017860	
C20orf141	128653	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	2795845	2795845	+	Silent	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr20:2795845C>T	ENST00000380589.4	+	1	189	c.15C>T	c.(13-15)tgC>tgT	p.C5C	TMEM239_ENST00000554164.1_Silent_p.C5C|TMEM239_ENST00000380593.4_Silent_p.C5C|C20orf141_ENST00000603872.1_Silent_p.C5C|TMEM239_ENST00000380585.1_5'Flank|TMEM239_ENST00000361033.1_5'Flank	NM_080739.2	NP_542777.1	Q9NUB4	CT141_HUMAN	chromosome 20 open reading frame 141	5						integral component of membrane (GO:0016021)		p.C5C(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	10						CCCGGCTCTGCTTACCCAGAC	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	92.0	89.0					20																	2795845		2203	4300	6503	SO:0001819	synonymous_variant	128653				CCDS13034.1	20p13	2012-10-30			ENSG00000258713	ENSG00000258713			16134	protein-coding gene	gene with protein product							Standard	NM_001256538		Approved	dJ860F19.4	uc002wgw.3	Q9NUB4	OTTHUMG00000031707	ENST00000380589.4:c.15C>T	20.37:g.2795845C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000380589.4	37	CCDS13034.1																																																																																				0.607	C20orf141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077644.2		NM_080739	
C3AR1	719	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	8212018	8212018	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr12:8212018T>A	ENST00000307637.4	-	2	967	c.764A>T	c.(763-765)tAt>tTt	p.Y255F		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	255					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.Y255F(1)		breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TACATTAGAATACAGATTTTG	0.443																																																	1	Substitution - Missense(1)	kidney(1)											65.0	67.0	66.0					12																	8212018		2203	4300	6503	SO:0001583	missense	719			U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.764A>T	12.37:g.8212018T>A	ENSP00000302079:p.Tyr255Phe	Somatic		WXS	Illumina HiSeq	Phase_I	O43771|Q92868	Missense_Mutation	SNP	ENST00000307637.4	37	CCDS8588.1	.	.	.	.	.	.	.	.	.	.	T	7.060	0.566182	0.13560	.	.	ENSG00000171860	ENST00000307637	T	0.71103	-0.54	4.37	0.455	0.16649	GPCR, rhodopsin-like superfamily (1);	1.134030	0.06866	N	0.799882	T	0.50411	0.1614	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.31530	-0.9940	10	0.06236	T	0.91	.	2.4372	0.04485	0.21:0.2334:0.0:0.5566	.	255	Q16581	C3AR_HUMAN	F	255	ENSP00000302079:Y255F	ENSP00000302079:Y255F	Y	-	2	0	C3AR1	8103285	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.063000	0.14410	0.315000	0.23110	0.533000	0.62120	TAT		0.443	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			
CCDC73	493860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	32657351	32657351	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr11:32657351T>C	ENST00000335185.5	-	14	1119	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	359								p.N359S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTAATCTTATTAATTTCTCC	0.229																																																	1	Substitution - Missense(1)	kidney(1)											32.0	30.0	31.0					11																	32657351		1760	4009	5769	SO:0001583	missense	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1076A>G	11.37:g.32657351T>C	ENSP00000335325:p.Asn359Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P5Q7|Q6ZMW0|Q86WE7	Missense_Mutation	SNP	ENST00000335185.5	37	CCDS41630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.62|10.62	1.401869|1.401869	0.25291|0.25291	.|.	.|.	ENSG00000186714|ENSG00000186714	ENST00000528333|ENST00000335185	.|.	.|.	.|.	5.32|5.32	2.99|2.99	0.34606|0.34606	.|.	.|0.282062	.|0.34067	.|N	.|0.004285	T|T	0.35248|0.35248	0.0925|0.0925	L|L	0.56769|0.56769	1.78|1.78	0.18873|0.18873	N|N	0.999988|0.999988	.|B;B	.|0.27068	.|0.167;0.161	.|B;B	.|0.31101	.|0.124;0.116	T|T	0.22765|0.22765	-1.0207|-1.0207	5|9	.|0.23302	.|T	.|0.38	.|.	6.524|6.524	0.22291|0.22291	0.0:0.0797:0.1565:0.7638|0.0:0.0797:0.1565:0.7638	.|.	.|349;359	.|Q6ZRK6-2;Q6ZRK6	.|.;CCD73_HUMAN	V|S	10|359	.|.	.|ENSP00000335325:N359S	I|N	-|-	1|2	0|0	CCDC73|CCDC73	32613927|32613927	0.023000|0.023000	0.18921|0.18921	0.555000|0.555000	0.28281|0.28281	0.585000|0.585000	0.36419|0.36419	0.486000|0.486000	0.22340|0.22340	0.413000|0.413000	0.25759|0.25759	-0.389000|-0.389000	0.06534|0.06534	ATA|AAT		0.229	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2		NM_001008391	
CCNB1IP1	57820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	20779855	20779855	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr14:20779855C>T	ENST00000398169.3	-	7	1304	c.688G>A	c.(688-690)Gat>Aat	p.D230N	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.D230N|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.D230N|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.D230N|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.D230N|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.D230N			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	230					blastocyst formation (GO:0001825)|chiasma assembly (GO:0051026)|protein ubiquitination (GO:0016567)|reciprocal meiotic recombination (GO:0007131)|spermatid development (GO:0007286)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.D230N(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		AAATCTCCATCTCCATCGCCC	0.398			T	HMGA2	leiomyoma																																			Dom	yes		14	14q11.2	57820	"""cyclin B1 interacting protein 1, E3 ubiquitin protein ligase"""		M	1	Substitution - Missense(1)	kidney(1)											96.0	98.0	97.0					14																	20779855		2203	4300	6503	SO:0001583	missense	57820			AF216381	CCDS9547.1	14q11.2	2014-02-04	2011-01-31	2004-01-14	ENSG00000100814	ENSG00000100814			19437	protein-coding gene	gene with protein product	"""human enhancer of invasion 10"""	608249	"""chromosome 14 open reading frame 18"", ""cyclin B1 interacting protein 1"""	C14orf18		12612082, 21779533	Standard	NM_021178		Approved	HEI10	uc001vwy.4	Q9NPC3	OTTHUMG00000029509	ENST00000398169.3:c.688G>A	14.37:g.20779855C>T	ENSP00000381235:p.Asp230Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000398169.3	37	CCDS9547.1	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659222	0.67586	.	.	ENSG00000100814	ENST00000398160;ENST00000398169;ENST00000358932;ENST00000353689;ENST00000437553;ENST00000398163	.	.	.	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.50633	0.1627	L	0.29908	0.895	0.45607	D	0.99854	P	0.38110	0.618	B	0.43386	0.418	T	0.39742	-0.9599	9	0.16420	T	0.52	-15.7872	15.9906	0.80202	0.0:1.0:0.0:0.0	.	230	Q9NPC3	CIP1_HUMAN	N	230	.	ENSP00000337396:D230N	D	-	1	0	CCNB1IP1	19849695	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.371000	0.59523	2.573000	0.86826	0.650000	0.86243	GAT		0.398	CCNB1IP1-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073538.3		NM_021178, NM_182849, NM_182851, NM_182852	
CEP135	9662	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	56890684	56890684	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr4:56890684A>C	ENST00000257287.4	+	25	3462	c.3338A>C	c.(3337-3339)gAg>gCg	p.E1113A		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	1113					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)	p.E1113A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GCAATCCAAGAGATGCGTCGA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											217.0	204.0	208.0					4																	56890684		2203	4300	6503	SO:0001583	missense	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.3338A>C	4.37:g.56890684A>C	ENSP00000257287:p.Glu1113Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	37	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.308644	0.81247	.	.	ENSG00000174799	ENST00000257287	T	0.15834	2.39	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.79475	2.455	0.53005	D	0.999969	D	0.89917	1.0	D	0.87578	0.998	T	0.42666	-0.9438	10	0.59425	D	0.04	.	15.851	0.78930	1.0:0.0:0.0:0.0	.	1113	Q66GS9	CP135_HUMAN	A	1113	ENSP00000257287:E1113A	ENSP00000257287:E1113A	E	+	2	0	CEP135	56585441	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.757000	0.74924	2.151000	0.67156	0.528000	0.53228	GAG		0.388	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2		NM_025009	
CLIP2	7461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	73790732	73790732	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:73790732G>T	ENST00000395060.1	+	9	2001	c.2001G>T	c.(1999-2001)ttG>ttT	p.L667F	CLIP2_ENST00000361545.5_Missense_Mutation_p.L632F|CLIP2_ENST00000223398.6_Missense_Mutation_p.L667F			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	667						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)		p.L632F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGGTAACTTGCAGGCCAAGC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											56.0	57.0	56.0					7																	73790732		2203	4300	6503	SO:0001583	missense	7461			AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2001G>T	7.37:g.73790732G>T	ENSP00000378500:p.Leu667Phe	Somatic		WXS	Illumina HiSeq	Phase_I	O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	CCDS5569.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709961	0.68730	.	.	ENSG00000106665	ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	T;T;T	0.65549	-0.16;0.04;-0.16	5.14	5.14	0.70334	.	0.000000	0.64402	D	0.000001	T	0.75803	0.3899	L	0.54323	1.7	0.49051	D	0.999747	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.984;0.999;0.997	T	0.76924	-0.2779	10	0.54805	T	0.06	-18.8022	17.2327	0.86989	0.0:0.0:1.0:0.0	.	632;632;667	A7E2F7;Q9UDT6-2;Q9UDT6	.;.;CLIP2_HUMAN	F	667;667;632;667	ENSP00000223398:L667F;ENSP00000355151:L632F;ENSP00000378500:L667F	ENSP00000223398:L667F	L	+	3	2	CLIP2	73428668	1.000000	0.71417	0.989000	0.46669	0.941000	0.58515	1.477000	0.35431	2.394000	0.81467	0.456000	0.33151	TTG		0.642	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1		NM_003388	
COL4A4	1286	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	227919340	227919340	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:227919340G>T	ENST00000396625.3	-	31	3037	c.2830C>A	c.(2830-2832)Cct>Act	p.P944T	COL4A4_ENST00000329662.7_Missense_Mutation_p.P944T	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	944	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P944T(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CGGTCTCCAGGAAGGCCAGAC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											98.0	104.0	102.0					2																	227919340		1902	4118	6020	SO:0001583	missense	1286				CCDS42828.1	2q35-q37	2014-09-17			ENSG00000081052	ENSG00000081052		"""Collagens"""	2206	protein-coding gene	gene with protein product	"""collagen of basement membrane, alpha-4 chain"""	120131				1639407	Standard	NM_000092		Approved	CA44	uc021vxs.1	P53420	OTTHUMG00000149892	ENST00000396625.3:c.2830C>A	2.37:g.227919340G>T	ENSP00000379866:p.Pro944Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8MTZ1|Q53RW9|Q53S42|Q53WR1	Missense_Mutation	SNP	ENST00000396625.3	37	CCDS42828.1	.	.	.	.	.	.	.	.	.	.	G	9.761	1.170109	0.21621	.	.	ENSG00000081052	ENST00000396625;ENST00000329662	D;D	0.96651	-4.08;-4.08	5.54	0.414	0.16406	.	.	.	.	.	D	0.92341	0.7570	L	0.52266	1.64	0.09310	N	1	B	0.20164	0.042	B	0.26202	0.067	T	0.82208	-0.0571	9	0.33141	T	0.24	.	1.8222	0.03113	0.2012:0.1129:0.4542:0.2316	.	944	P53420	CO4A4_HUMAN	T	944	ENSP00000379866:P944T;ENSP00000328553:P944T	ENSP00000328553:P944T	P	-	1	0	COL4A4	227627584	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.234000	0.17930	-0.224000	0.09928	0.650000	0.86243	CCT		0.512	COL4A4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313770.1		NM_000092	
COL6A5	256076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130162331	130162331	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:130162331C>G	ENST00000432398.2	+	36	6993	c.6499C>G	c.(6499-6501)Cag>Gag	p.Q2167E	COL6A5_ENST00000265379.6_Missense_Mutation_p.Q2167E	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2167	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.Q2167E(1)|p.Q206E(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGGATTCAATCAGTACCCACC	0.378																																																	2	Substitution - Missense(2)	kidney(2)											91.0	87.0	88.0					3																	130162331		1845	4097	5942	SO:0001583	missense	256076			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6499C>G	3.37:g.130162331C>G	ENSP00000390895:p.Gln2167Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.193|7.193	0.591915|0.591915	0.13812|0.13812	.|.	.|.	ENSG00000172752|ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482|ENST00000512836	T;T;T;T|.	0.78126|.	2.63;2.63;2.63;-1.15|.	4.67|4.67	0.0711|0.0711	0.14381|0.14381	.|.	0.870695|.	0.09683|.	N|.	0.769517|.	T|.	0.32466|.	0.0830|.	L|L	0.43152|0.43152	1.355|1.355	0.19575|0.19575	N|N	0.999967|0.999967	B;B|.	0.16396|.	0.01;0.017|.	B;B|.	0.12156|.	0.005;0.007|.	T|.	0.28235|.	-1.0050|.	10|.	0.02654|.	T|.	1|.	.|.	2.9342|2.9342	0.05809|0.05809	0.2996:0.453:0.1472:0.1002|0.2996:0.453:0.1472:0.1002	.|.	2167;2167|.	A8TX70;A8TX70-2|.	CO6A5_HUMAN;.|.	E|X	2167;2167;110;2|418	ENSP00000390895:Q2167E;ENSP00000265379:Q2167E;ENSP00000362250:Q110E;ENSP00000424968:Q2E|.	ENSP00000265379:Q2167E|.	Q|S	+|+	1|2	0|0	COL6A5|COL6A5	131645021|131645021	0.998000|0.998000	0.40836|0.40836	0.996000|0.996000	0.52242|0.52242	0.810000|0.810000	0.45777|0.45777	0.120000|0.120000	0.15647|0.15647	0.187000|0.187000	0.20147|0.20147	0.544000|0.544000	0.68410|0.68410	CAG|TCA		0.378	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_153264	
COL9A1	1297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	71004163	71004163	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr6:71004163C>T	ENST00000357250.6	-	5	561	c.403G>A	c.(403-405)Gat>Aat	p.D135N	COL9A1_ENST00000370496.3_Missense_Mutation_p.D135N	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	135	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.D135N(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGAGGAATCCTGAATCTGC	0.433																																																	1	Substitution - Missense(1)	kidney(1)											145.0	146.0	146.0					6																	71004163		2203	4300	6503	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.403G>A	6.37:g.71004163C>T	ENSP00000349790:p.Asp135Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966236	0.53507	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.02421	4.3;4.3	5.58	4.72	0.59763	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.433572	0.25132	N	0.032889	T	0.01835	0.0058	L	0.55481	1.735	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.43294	-0.9400	10	0.36615	T	0.2	.	14.5669	0.68182	0.0:0.9298:0.0:0.0702	.	135	P20849	CO9A1_HUMAN	N	135	ENSP00000349790:D135N;ENSP00000359527:D135N	ENSP00000349790:D135N	D	-	1	0	COL9A1	71060884	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.878000	0.48515	1.500000	0.48636	0.650000	0.86243	GAT		0.433	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			
COPG1	22820	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128986841	128986841	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:128986841G>C	ENST00000314797.6	+	16	1710	c.1606G>C	c.(1606-1608)Gag>Cag	p.E536Q		NM_016128.3	NP_057212.1	Q9Y678	COPG1_HUMAN	coatomer protein complex, subunit gamma 1	536					COPI coating of Golgi vesicle (GO:0048205)|establishment of Golgi localization (GO:0051683)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|organelle transport along microtubule (GO:0072384)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)	structural molecule activity (GO:0005198)	p.E536Q(1)									AAATGTCCTGGAGCAGAAGCA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											163.0	134.0	144.0					3																	128986841		2203	4300	6503	SO:0001583	missense	0			AB047846	CCDS33851.1	3q21.3	2012-02-23	2012-02-23	2012-02-23	ENSG00000181789	ENSG00000181789			2236	protein-coding gene	gene with protein product	"""coat protein gamma-cop"""	615525	"""coatomer protein complex, subunit gamma"""	COPG		11056392	Standard	NM_016128		Approved		uc003els.3	Q9Y678	OTTHUMG00000159451	ENST00000314797.6:c.1606G>C	3.37:g.128986841G>C	ENSP00000325002:p.Glu536Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6M8|B3KMF6|Q54AC4	Missense_Mutation	SNP	ENST00000314797.6	37	CCDS33851.1	.	.	.	.	.	.	.	.	.	.	G	6.810	0.518455	0.13005	.	.	ENSG00000181789	ENST00000314797	T	0.25912	1.77	6.17	2.3	0.28687	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.066625	0.64402	D	0.000009	T	0.11665	0.0284	N	0.02842	-0.48	0.37493	D	0.916457	B	0.14438	0.01	B	0.17433	0.018	T	0.10753	-1.0616	10	0.12766	T	0.61	-10.3606	17.2381	0.87005	0.0:0.4855:0.5145:0.0	.	536	Q9Y678	COPG_HUMAN	Q	536	ENSP00000325002:E536Q	ENSP00000325002:E536Q	E	+	1	0	COPG	130469531	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	5.881000	0.69706	0.148000	0.19059	-0.165000	0.13383	GAG		0.517	COPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355456.1		NM_016128	
DAPK1	1612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	90255297	90255297	+	Silent	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr9:90255297T>C	ENST00000408954.3	+	8	1049	c.714T>C	c.(712-714)gaT>gaC	p.D238D	DAPK1_ENST00000472284.1_Silent_p.D238D|DAPK1_ENST00000469640.2_Silent_p.D238D|DAPK1_ENST00000358077.5_Silent_p.D238D|DAPK1_ENST00000491893.1_Silent_p.D238D	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	238	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D238D(2)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AATTTGAGGATGAATACTTCA	0.433									Chronic Lymphocytic Leukemia, Familial Clustering of																																								2	Substitution - coding silent(2)	kidney(2)											102.0	99.0	100.0					9																	90255297		1897	4120	6017	SO:0001819	synonymous_variant	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.714T>C	9.37:g.90255297T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	CCDS43842.1																																																																																				0.433	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1		NM_004938	
DCT	1638	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	95092274	95092274	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr13:95092274G>C	ENST00000377028.5	-	8	1851	c.1438C>G	c.(1438-1440)Ctg>Gtg	p.L480V	DCT_ENST00000446125.1_Missense_Mutation_p.L513V	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	480					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)	p.L480V(1)|p.L513V(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AAAGCCACCAGTGTTCCCATG	0.418																																																	2	Substitution - Missense(2)	kidney(2)											85.0	86.0	86.0					13																	95092274		2203	4300	6503	SO:0001583	missense	1638			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.1438C>G	13.37:g.95092274G>C	ENSP00000366227:p.Leu480Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	G	9.361	1.067977	0.20067	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.99369	-5.63;-5.78	4.88	3.14	0.36123	.	0.534815	0.18117	N	0.151164	D	0.97773	0.9269	L	0.32530	0.975	0.46336	D	0.998994	D;P	0.54964	0.969;0.952	P;P	0.51101	0.659;0.452	D	0.95385	0.8476	10	0.36615	T	0.2	-11.693	7.8361	0.29371	0.2622:0.0:0.7378:0.0	.	513;480	Q09GT4;P40126	.;TYRP2_HUMAN	V	480;513	ENSP00000366227:L480V;ENSP00000392762:L513V	ENSP00000366227:L480V	L	-	1	2	DCT	93890275	0.145000	0.22656	0.018000	0.16275	0.287000	0.27160	0.581000	0.23819	0.574000	0.29417	0.563000	0.77884	CTG		0.418	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3			
DPYSL3	1809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	146792202	146792202	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:146792202A>G	ENST00000398514.3	-	6	961	c.590T>C	c.(589-591)gTt>gCt	p.V197A	DPYSL3_ENST00000343218.5_Missense_Mutation_p.V311A|DPYSL3_ENST00000534907.1_Intron	NM_001387.2	NP_001378.1	Q14195	DPYL3_HUMAN	dihydropyrimidinase-like 3	197					actin crosslink formation (GO:0051764)|actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cell migration (GO:0030336)|negative regulation of neuron projection development (GO:0010977)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron projection development (GO:0010976)|protein homooligomerization (GO:0051260)|pyrimidine nucleobase catabolic process (GO:0006208)|response to axon injury (GO:0048678)	cell body (GO:0044297)|cytosol (GO:0005829)|extracellular space (GO:0005615)|filamentous actin (GO:0031941)|growth cone (GO:0030426)|lamellipodium (GO:0030027)	chondroitin sulfate binding (GO:0035374)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)|SH3 domain binding (GO:0017124)	p.V197A(1)		breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGCATGAACTTGAGCAAT	0.493																																																	1	Substitution - Missense(1)	kidney(1)											69.0	69.0	69.0					5																	146792202		1950	4114	6064	SO:0001583	missense	1809			D78014	CCDS43381.1, CCDS56387.1	5q32	2008-02-05							3015	protein-coding gene	gene with protein product		601168				8973361, 9115293	Standard	NM_001197294		Approved	DRP-3, ULIP, CRMP4	uc003loo.3	Q14195		ENST00000398514.3:c.590T>C	5.37:g.146792202A>G	ENSP00000381526:p.Val197Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B3SXQ8|Q93012	Missense_Mutation	SNP	ENST00000398514.3	37	CCDS43381.1	.	.	.	.	.	.	.	.	.	.	A	33	5.197759	0.94997	.	.	ENSG00000113657	ENST00000398514;ENST00000343218	D;D	0.91351	-2.83;-2.83	6.02	6.02	0.97574	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.96049	0.8713	M	0.88512	2.96	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.992	D	0.96641	0.9474	10	0.87932	D	0	-0.6653	16.5446	0.84426	1.0:0.0:0.0:0.0	.	311;197	B3SXQ8;Q14195	.;DPYL3_HUMAN	A	197;311	ENSP00000381526:V197A;ENSP00000343690:V311A	ENSP00000343690:V311A	V	-	2	0	DPYSL3	146772395	1.000000	0.71417	0.949000	0.38748	0.957000	0.61999	9.288000	0.96055	2.311000	0.77944	0.533000	0.62120	GTT		0.493	DPYSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373421.2		NM_001387	
EIF4A2	1974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186505363	186505363	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:186505363C>T	ENST00000323963.5	+	9	1053	c.989C>T	c.(988-990)aCt>aTt	p.T330I	EIF4A2_ENST00000440191.2_Missense_Mutation_p.T331I|SNORA63_ENST00000363548.1_RNA|SNORA4_ENST00000584302.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.T235I|SNORA63_ENST00000363450.1_RNA|SNORA81_ENST00000408493.2_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	330	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.T330I(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		CTGATCACTACTGACTTGTTG	0.398			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	1	Substitution - Missense(1)	kidney(1)											143.0	136.0	138.0					3																	186505363		2203	4300	6503	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.989C>T	3.37:g.186505363C>T	ENSP00000326381:p.Thr330Ile	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.552823	0.86127	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.12465	2.68;2.68;2.68	5.12	5.12	0.69794	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.53883	0.1824	H	0.97682	4.055	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.91635	0.998;0.983;0.999;0.999	T	0.70245	-0.4925	10	0.87932	D	0	.	16.4407	0.83900	0.0:1.0:0.0:0.0	.	186;235;331;330	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	I	330;331;235	ENSP00000326381:T330I;ENSP00000398370:T331I;ENSP00000348925:T235I	ENSP00000326381:T330I	T	+	2	0	EIF4A2	187988057	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.219000	0.78000	2.826000	0.97356	0.563000	0.77884	ACT		0.398	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1		NM_001967	
EPHA1	2041	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	143096499	143096499	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:143096499delA	ENST00000275815.3	-	5	929	c.843delT	c.(841-843)cctfs	p.P281fs		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	281	Cys-rich.				activation of Rho GTPase activity (GO:0032862)|angiogenesis (GO:0001525)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of cell migration (GO:0030336)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|regulation of Rac GTPase activity (GO:0032314)|substrate adhesion-dependent cell spreading (GO:0034446)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGGAGCCGCTAGGGCAGGCTG	0.577																																																	0													41.0	35.0	37.0					7																	143096499		2203	4298	6501	SO:0001589	frameshift_variant	2041			M18391	CCDS5884.1	7q32-q36	2013-02-11	2004-10-28		ENSG00000146904	ENSG00000146904	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3385	protein-coding gene	gene with protein product		179610	"""EphA1"""	EPHT, EPHT1		9267020	Standard	NM_005232		Approved	EPH	uc003wcz.3	P21709	OTTHUMG00000155894	ENST00000275815.3:c.843delT	7.37:g.143096499delA	ENSP00000275815:p.Pro281fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L3V3|B5A966|B5A967|Q15405	Frame_Shift_Del	DEL	ENST00000275815.3	37	CCDS5884.1																																																																																				0.577	EPHA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342154.1			
ERCC6	2074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	50678573	50678573	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr10:50678573C>T	ENST00000355832.5	-	18	3511	c.3433G>A	c.(3433-3435)Gaa>Aaa	p.E1145K	ERCC6_ENST00000465653.1_5'Flank|ERCC6_ENST00000542458.1_Missense_Mutation_p.E515K|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1145					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)	p.E1145K(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCAATGCTTTCATCACCAGAT	0.378								Direct reversal of damage;Nucleotide excision repair (NER)																																									1	Substitution - Missense(1)	kidney(1)											102.0	94.0	97.0					10																	50678573		2203	4300	6503	SO:0001583	missense	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3433G>A	10.37:g.50678573C>T	ENSP00000348089:p.Glu1145Lys	Somatic		WXS	Illumina HiSeq	Phase_I	D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.611513	0.28712	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;T	0.83075	-1.68;-1.41	5.65	3.8	0.43715	.	.	.	.	.	T	0.71417	0.3337	L	0.38838	1.175	0.09310	N	1	B;B	0.28128	0.201;0.01	B;B	0.25140	0.058;0.006	T	0.53415	-0.8442	9	0.06625	T	0.88	-5.6877	10.5929	0.45321	0.0:0.7922:0.0:0.2078	.	1145;522	Q03468;Q59FF6	ERCC6_HUMAN;.	K	1145;522;515	ENSP00000348089:E1145K;ENSP00000445134:E515K	ENSP00000348089:E1145K	E	-	1	0	ERCC6	50348579	0.001000	0.12720	0.001000	0.08648	0.019000	0.09904	1.260000	0.32968	0.855000	0.35359	-0.140000	0.14226	GAA		0.378	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1		NM_000124	
NXPE2	120406	broad.mit.edu;ucsc.edu	37	11	114568953	114568953	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr11:114568953A>T	ENST00000389586.4	+	3	509	c.319A>T	c.(319-321)Acc>Tcc	p.T107S	NXPE2_ENST00000375475.5_Missense_Mutation_p.T107S	NM_182495.5	NP_872301.2	Q96DL1	NXPE2_HUMAN	neurexophilin and PC-esterase domain family, member 2	107						integral component of membrane (GO:0016021)		p.T107S(2)									GAATACCACCACCAGTGCCAC	0.512																																																	2	Substitution - Missense(2)	kidney(2)											164.0	134.0	143.0					11																	114568953		692	1591	2283	SO:0001583	missense	0			AK057953	CCDS44738.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000204361	ENSG00000204361			26331	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member B"""	FAM55B			Standard	NM_182495		Approved	FLJ25224	uc009yyy.2	Q96DL1	OTTHUMG00000168293	ENST00000389586.4:c.319A>T	11.37:g.114568953A>T	ENSP00000374237:p.Thr107Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q2NKI8	Missense_Mutation	SNP	ENST00000389586.4	37	CCDS44738.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.971649	0.74246	.	.	ENSG00000204361	ENST00000389586;ENST00000375475;ENST00000505358	T;T	0.38240	1.86;1.15	4.66	4.66	0.58398	Immunoglobulin E-set (1);	0.000000	0.64402	D	0.000008	T	0.60104	0.2243	M	0.82923	2.615	0.39864	D	0.973428	D	0.65815	0.995	D	0.67382	0.951	T	0.67764	-0.5586	10	0.66056	D	0.02	.	12.076	0.53644	1.0:0.0:0.0:0.0	.	107	Q96DL1	FA55B_HUMAN	S	107	ENSP00000374237:T107S;ENSP00000364624:T107S	ENSP00000364624:T107S	T	+	1	0	FAM55B	114074163	1.000000	0.71417	1.000000	0.80357	0.741000	0.42261	4.660000	0.61511	1.740000	0.51718	0.482000	0.46254	ACC		0.512	NXPE2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399181.1		NM_182495	
FBXO31	79791	broad.mit.edu;hgsc.bcm.edu	37	16	87394002	87394002	+	Intron	SNP	A	A	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr16:87394002A>T	ENST00000311635.7	-	2	353				RP11-178L8.9_ENST00000602779.1_RNA	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31						cellular response to DNA damage stimulus (GO:0006974)|cyclin catabolic process (GO:0008054)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGAAATTTAAGATCAACAAC	0.517																																																	0													64.0	59.0	60.0					16																	87394002		2198	4300	6498	SO:0001627	intron_variant	79791			BC002985	CCDS32501.1, CCDS73922.1	16q24	2008-12-18	2004-05-27			ENSG00000103264		"""F-boxes /  ""other"""""	16510	protein-coding gene	gene with protein product		609102	"""F-box only protein 31"""				Standard	NM_024735		Approved	FBX14, FBXO14, Fbx31, MGC15419	uc002fjw.3	Q5XUX0		ENST00000311635.7:c.341-30T>A	16.37:g.87394002A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5K680|Q8WYV1|Q96D73|Q9UFV4	RNA	SNP	ENST00000311635.7	37	CCDS32501.1																																																																																				0.517	FBXO31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430799.2		NM_024735	
FCHSD1	89848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141025713	141025713	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:141025713C>A	ENST00000435817.2	-	12	1140	c.1090G>T	c.(1090-1092)Gag>Tag	p.E364*	FCHSD1_ENST00000522126.1_Nonsense_Mutation_p.E288*|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Intron	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	364								p.E364*(1)	FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGGAGCCTCCCGCTCTGAA	0.587																																																	1	Substitution - Nonsense(1)	kidney(1)											51.0	48.0	49.0					5																	141025713		2036	4184	6220	SO:0001587	stop_gained	89848			AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.1090G>T	5.37:g.141025713C>A	ENSP00000399259:p.Glu364*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UX75|Q86Y77|Q9NXX8	Nonsense_Mutation	SNP	ENST00000435817.2	37	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004153	0.74932	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000518499	.	.	.	5.6	5.6	0.85130	.	0.149257	0.46442	D	0.000284	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-17.4633	12.5484	0.56214	0.0:0.9231:0.0:0.0769	.	.	.	.	X	364;288;47	.	ENSP00000399259:E364X	E	-	1	0	FCHSD1	141005897	0.988000	0.35896	1.000000	0.80357	0.182000	0.23217	3.321000	0.51999	2.637000	0.89404	0.455000	0.32223	GAG		0.587	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2		NM_033449	
FBXW11	23291	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	171299957	171299957	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:171299957A>G	ENST00000265094.5	-	9	1333	c.1196T>C	c.(1195-1197)cTc>cCc	p.L399P	FBXW11_ENST00000296933.6_Missense_Mutation_p.L386P|FBXW11_ENST00000425623.2_Missense_Mutation_p.L367P|FBXW11_ENST00000393802.2_Missense_Mutation_p.L365P	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	399					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.L399P(1)|p.L386P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTGCCCATTGAGAGTACGAAC	0.443																																																	2	Substitution - Missense(2)	kidney(2)											88.0	77.0	81.0					5																	171299957		2203	4300	6503	SO:0001583	missense	23291			AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1196T>C	5.37:g.171299957A>G	ENSP00000265094:p.Leu399Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.706350	0.89018	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.63	5.63	0.86233	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.76807	0.4039	M	0.93462	3.42	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.83569	0.0111	10	0.87932	D	0	-9.5064	15.5314	0.75964	1.0:0.0:0.0:0.0	.	367;365;399;386	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	P	386;399;365;367	ENSP00000296933:L386P;ENSP00000265094:L399P;ENSP00000377391:L365P;ENSP00000444929:L367P	ENSP00000265094:L399P	L	-	2	0	FBXW11	171232562	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	9.281000	0.95811	2.145000	0.66743	0.533000	0.62120	CTC		0.443	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1		NM_012300	
FCRL3	115352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	157650775	157650775	+	Silent	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:157650775G>A	ENST00000368184.3	-	12	2244	c.1953C>T	c.(1951-1953)agC>agT	p.S651S	FCRL3_ENST00000368186.5_Silent_p.S651S|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	651						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S651S(1)		autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTCACCATTGCTGTACATTG	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	73.0	77.0					1																	157650775		2203	4300	6503	SO:0001819	synonymous_variant	115352			AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1953C>T	1.37:g.157650775G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	CCDS1167.1																																																																																				0.557	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2		NM_052939	
FIP1L1	81608	hgsc.bcm.edu;ucsc.edu	37	4	54256754	54256755	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr4:54256754_54256755insAG	ENST00000337488.6	+	7	658_659	c.464_465insAG	c.(463-468)gtagatfs	p.D156fs	FIP1L1_ENST00000507166.1_Frame_Shift_Ins_p.D156fs|FIP1L1_ENST00000358575.5_Frame_Shift_Ins_p.D141fs|FIP1L1_ENST00000507922.1_Frame_Shift_Ins_p.D141fs|FIP1L1_ENST00000306932.6_Frame_Shift_Ins_p.D141fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	156	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTCTTAGAGGTAGATTTGGATT	0.332			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	0																																										SO:0001589	frameshift_variant	81608			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.465_466dupAG	4.37:g.54256755_54256756dupAG	ENSP00000336752:p.Asp156fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Ins	INS	ENST00000337488.6	37	CCDS3491.1																																																																																				0.332	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1		NM_030917	
FLRT2	23768	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	86088731	86088731	+	Silent	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr14:86088731G>T	ENST00000330753.4	+	2	1640	c.873G>T	c.(871-873)ctG>ctT	p.L291L	FLRT2_ENST00000554746.1_Silent_p.L291L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	291					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.L291L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TGCGGATGCTGACTCAAGGGG	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											170.0	177.0	175.0					14																	86088731		2203	4300	6503	SO:0001819	synonymous_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.873G>T	14.37:g.86088731G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0AV84|B7ZLP3	Silent	SNP	ENST00000330753.4	37	CCDS9877.1																																																																																				0.458	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1			
FOXK1	221937	broad.mit.edu;hgsc.bcm.edu	37	7	4794095	4794095	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:4794095C>T	ENST00000328914.4	+	3	752	c.752C>T	c.(751-753)cCc>cTc	p.P251L	FOXK1_ENST00000446823.1_Missense_Mutation_p.P88L	NM_001037165.1	NP_001032242.1			forkhead box K1									p.P229L(1)|p.P251L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CTCAGTGTCCCCAACTCCTGC	0.622																																																	2	Substitution - Missense(2)	kidney(2)											59.0	52.0	54.0					7																	4794095		2203	4300	6503	SO:0001583	missense	221937			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.752C>T	7.37:g.4794095C>T	ENSP00000328720:p.Pro251Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000328914.4	37	CCDS34591.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.976172	0.74360	.	.	ENSG00000164916	ENST00000446823;ENST00000450194;ENST00000328914;ENST00000545598	D;D	0.96136	-3.56;-3.92	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.95326	0.8483	L	0.44542	1.39	0.80722	D	1	D;B;B	0.56521	0.976;0.002;0.002	P;B;B	0.54815	0.761;0.009;0.009	D	0.94269	0.7509	10	0.30854	T	0.27	.	17.6246	0.88091	0.0:1.0:0.0:0.0	.	251;134;88	P85037;F5H8G8;P85037-2	FOXK1_HUMAN;.;.	L	88;15;251;134	ENSP00000394442:P88L;ENSP00000328720:P251L	ENSP00000328720:P251L	P	+	2	0	FOXK1	4760621	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.807000	0.86032	2.388000	0.81334	0.655000	0.94253	CCC		0.622	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323729.2			
FRMD3	257019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	85950490	85950490	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr9:85950490G>T	ENST00000304195.3	-	6	743	c.537C>A	c.(535-537)ttC>ttA	p.F179L	FRMD3_ENST00000376438.1_Missense_Mutation_p.F179L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	179	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.F179L(1)|p.F75L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						ACTGCTTGGGGAAAATCTCAA	0.368																																																	2	Substitution - Missense(2)	kidney(2)											116.0	102.0	107.0					9																	85950490		1837	4090	5927	SO:0001583	missense	257019			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.537C>A	9.37:g.85950490G>T	ENSP00000303508:p.Phe179Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186169	0.38609	.	.	ENSG00000172159	ENST00000376438;ENST00000304195;ENST00000376422	T;T	0.74526	-0.85;-0.85	5.44	1.54	0.23209	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.000000	0.85682	D	0.000000	T	0.54431	0.1858	N	0.13003	0.285	0.80722	D	1	B;B	0.27264	0.173;0.144	B;B	0.37091	0.241;0.091	T	0.43163	-0.9408	10	0.02654	T	1	.	9.6359	0.39806	0.3583:0.0:0.6417:0.0	.	179;179	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	L	179;179;75	ENSP00000365621:F179L;ENSP00000303508:F179L	ENSP00000303508:F179L	F	-	3	2	FRMD3	85140310	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.143000	0.31553	0.271000	0.22005	-0.373000	0.07131	TTC		0.368	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1		NM_174938	
FUT6	2528	hgsc.bcm.edu	37	19	5832160	5832161	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:5832160_5832161insT	ENST00000318336.4	-	3	1612_1613	c.418_419insA	c.(418-420)agcfs	p.S140fs	FUT6_ENST00000524754.1_Frame_Shift_Ins_p.S140fs|FUT6_ENST00000592563.1_Frame_Shift_Ins_p.S140fs|FUT6_ENST00000527106.1_Frame_Shift_Ins_p.S140fs|FUT6_ENST00000286955.5_Frame_Shift_Ins_p.S140fs	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	140					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CCAGCAGTGGCTTGGGGACTCC	0.629																																																	0																																										SO:0001589	frameshift_variant	2528				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.419dupA	19.37:g.5832162_5832162dupT	ENSP00000313398:p.Ser140fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEX0|D6W637|Q9UND8	Frame_Shift_Ins	INS	ENST00000318336.4	37	CCDS12152.1																																																																																				0.629	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2		NM_000150	
GCC2	9648	hgsc.bcm.edu;ucsc.edu	37	2	109104197	109104197	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:109104197delG	ENST00000309863.6	+	17	4687	c.3973delG	c.(3973-3975)gtcfs	p.V1325fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1325					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGCTACAAAGTCCGAGTTCA	0.353																																																	0													88.0	93.0	91.0					2																	109104197		2203	4300	6503	SO:0001589	frameshift_variant	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.3973delG	2.37:g.109104197delG	ENSP00000307939:p.Val1325fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Del	DEL	ENST00000309863.6	37	CCDS33268.1																																																																																				0.353	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635	
GCNT4	51301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	74325838	74325838	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:74325838T>G	ENST00000322348.4	-	1	886	c.25A>C	c.(25-27)Aaa>Caa	p.K9Q		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	9					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|homeostasis of number of cells (GO:0048872)|inter-male aggressive behavior (GO:0002121)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|thyroid hormone metabolic process (GO:0042403)|tissue morphogenesis (GO:0048729)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)	p.K9Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AGGGTATGTTTAAAATAACAT	0.343																																																	1	Substitution - Missense(1)	kidney(1)											90.0	107.0	101.0					5																	74325838		2164	4165	6329	SO:0001583	missense	51301			AF132035	CCDS4026.1	5q12	2013-02-25	2010-03-16		ENSG00000176928	ENSG00000176928	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	17973	protein-coding gene	gene with protein product	"""core 2 beta-1,6-N-acetylglucosaminyltransferase 3"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4"""		"""glucosaminyl (N-acetyl) transferase 4, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""			10753916	Standard	NM_016591		Approved	C2GNT3	uc003kdn.3	Q9P109	OTTHUMG00000131272	ENST00000322348.4:c.25A>C	5.37:g.74325838T>G	ENSP00000317027:p.Lys9Gln	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000322348.4	37	CCDS4026.1	.	.	.	.	.	.	.	.	.	.	T	17.94	3.510415	0.64522	.	.	ENSG00000176928	ENST00000322348	T	0.09445	2.98	5.95	5.95	0.96441	.	0.422650	0.15532	U	0.257448	T	0.14056	0.0340	L	0.50333	1.59	0.27644	N	0.947637	P	0.45902	0.868	B	0.39876	0.312	T	0.08371	-1.0725	10	0.46703	T	0.11	-4.529	16.4237	0.83790	0.0:0.0:0.0:1.0	.	9	Q9P109	GCNT4_HUMAN	Q	9	ENSP00000317027:K9Q	ENSP00000317027:K9Q	K	-	1	0	GCNT4	74361594	0.994000	0.37717	0.999000	0.59377	0.981000	0.71138	2.621000	0.46418	2.279000	0.76181	0.533000	0.62120	AAA		0.343	GCNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254040.1		NM_016591	
GGT7	2686	broad.mit.edu;hgsc.bcm.edu	37	20	33433135	33433135	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr20:33433135A>C	ENST00000336431.5	-	15	2029	c.1985T>G	c.(1984-1986)cTg>cGg	p.L662R	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	662					glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)	p.L662R(1)		NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCTGCTCTACAGGATGGTGGC	0.602																																																	1	Substitution - Missense(1)	kidney(1)											39.0	43.0	42.0					20																	33433135		1994	4158	6152	SO:0001583	missense	2686			AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.1985T>G	20.37:g.33433135A>C	ENSP00000338964:p.Leu662Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	Missense_Mutation	SNP	ENST00000336431.5	37	CCDS13242.2	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905214	0.52333	.	.	ENSG00000131067	ENST00000336431	T	0.06768	3.26	4.97	2.72	0.32119	.	0.291210	0.30859	N	0.008721	T	0.05868	0.0153	N	0.19112	0.55	0.40694	D	0.982429	B	0.29085	0.232	B	0.29524	0.103	T	0.36237	-0.9756	10	0.87932	D	0	-7.3456	8.4434	0.32828	0.8366:0.0:0.1634:0.0	.	662	Q9UJ14	GGT7_HUMAN	R	662	ENSP00000338964:L662R	ENSP00000338964:L662R	L	-	2	0	GGT7	32896796	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.985000	0.49362	0.387000	0.25024	0.533000	0.62120	CTG		0.602	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078816.2		NM_178026	
GIGYF2	26058	hgsc.bcm.edu;ucsc.edu	37	2	233708765	233708767	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	CAG	CAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:233708765_233708767delCAG	ENST00000409547.1	+	26	3210_3212	c.2899_2901delCAG	c.(2899-2901)cagdel	p.Q968del	GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q989del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q968del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.A810del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q962del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q990del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q990del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	968	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GCAAAGGCGCCAGCAGAGGGAGT	0.419																																																	0																																										SO:0001651	inframe_deletion	26058			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2899_2901delCAG	2.37:g.233708768_233708770delCAG	ENSP00000386537:p.Gln968del	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	CCDS33401.1																																																																																				0.419	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2		NM_001103146	
HELQ	113510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	84374451	84374451	+	Silent	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr4:84374451A>C	ENST00000295488.3	-	2	1107	c.945T>G	c.(943-945)ccT>ccG	p.P315P	HELQ_ENST00000510985.1_Silent_p.P315P|MRPS18C_ENST00000507019.1_5'Flank|MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000440639.2_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	315					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.P315P(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ATGAATAAAAAGGACCAAGGT	0.323								Other identified genes with known or suspected DNA repair function																																									1	Substitution - coding silent(1)	kidney(1)											75.0	80.0	79.0					4																	84374451		2203	4300	6503	SO:0001819	synonymous_variant	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.945T>G	4.37:g.84374451A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	CCDS3603.1																																																																																				0.323	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1		NM_133636	
HERC1	8925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63950916	63950916	+	Splice_Site	SNP	A	A	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr15:63950916A>T	ENST00000443617.2	-	48	9513	c.9426T>A	c.(9424-9426)ggT>ggA	p.G3142G		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3142					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G3142G(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCCATGGCAACCTGAAAAAC	0.418																																																	2	Substitution - coding silent(2)	kidney(2)											61.0	56.0	58.0					15																	63950916		1866	4113	5979	SO:0001630	splice_region_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9425-1T>A	15.37:g.63950916A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IW65	Silent	SNP	ENST00000443617.2	37	CCDS45277.1																																																																																				0.418	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1		NM_003922	Silent
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186064396	186064396	+	Nonsense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:186064396C>G	ENST00000271588.4	+	68	10545	c.10316C>G	c.(10315-10317)tCa>tGa	p.S3439*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.S3439*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3439	Ig-like C2-type 33.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.S3439*(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGACAATTCAATGGGGACA	0.383																																																	1	Substitution - Nonsense(1)	kidney(1)											88.0	85.0	86.0					1																	186064396		2203	4300	6503	SO:0001587	stop_gained	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10316C>G	1.37:g.186064396C>G	ENSP00000271588:p.Ser3439*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Nonsense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	52	19.934389	0.99925	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	.	.	.	5.2	3.25	0.37280	.	0.208574	0.49916	D	0.000134	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	15.6125	0.76737	0.0:0.5763:0.4237:0.0	.	.	.	.	X	3439	.	ENSP00000271588:S3439X	S	+	2	0	HMCN1	184331019	0.967000	0.33354	0.479000	0.27329	0.975000	0.68041	2.724000	0.47285	0.511000	0.28236	0.561000	0.74099	TCA		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935	
IFIH1	64135	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	163144684	163144684	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:163144684T>G	ENST00000263642.2	-	5	1451	c.1056A>C	c.(1054-1056)aaA>aaC	p.K352N		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	352	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.K352N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						GCTCAGATGCTTTTTTCTTCT	0.368																																																	1	Substitution - Missense(1)	kidney(1)											109.0	109.0	109.0					2																	163144684		2203	4300	6503	SO:0001583	missense	64135			AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1056A>C	2.37:g.163144684T>G	ENSP00000263642:p.Lys352Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.676837	0.29783	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05447	3.44	5.96	1.02	0.19986	DEAD-like helicase (2);Helicase/UvrB domain (1);	0.271763	0.44688	D	0.000437	T	0.02888	0.0086	N	0.16708	0.43	0.30048	N	0.812052	P	0.36633	0.562	B	0.32928	0.155	T	0.43228	-0.9404	10	0.18710	T	0.47	-6.4199	5.33	0.15928	0.1174:0.266:0.0:0.6166	.	352	Q9BYX4	IFIH1_HUMAN	N	352	ENSP00000263642:K352N	ENSP00000263642:K352N	K	-	3	2	IFIH1	162852930	0.000000	0.05858	0.619000	0.29118	0.910000	0.53928	0.278000	0.18753	-0.045000	0.13468	-0.924000	0.02725	AAA		0.368	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2		NM_022168	
IL18BP	10068	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	71711432	71711432	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr11:71711432C>T	ENST00000393703.4	+	3	601	c.64C>T	c.(64-66)Cac>Tac	p.H22Y	IL18BP_ENST00000497194.2_Missense_Mutation_p.H22Y|IL18BP_ENST00000393707.4_Missense_Mutation_p.H22Y|IL18BP_ENST00000531053.1_Missense_Mutation_p.H22Y|IL18BP_ENST00000337131.5_Missense_Mutation_p.H22Y|IL18BP_ENST00000260049.5_Missense_Mutation_p.H22Y|IL18BP_ENST00000393705.4_Missense_Mutation_p.H22Y|IL18BP_ENST00000404792.1_Missense_Mutation_p.H22Y	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein	22					cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)	p.H22Y(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						CCTGTGTGCCCACGTCGTCAC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											96.0	104.0	101.0					11																	71711432		2114	4251	6365	SO:0001583	missense	10068			AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713	ENST00000393703.4:c.64C>T	11.37:g.71711432C>T	ENSP00000377306:p.His22Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	C	10.13	1.266294	0.23136	.	.	ENSG00000137496	ENST00000393703;ENST00000497194;ENST00000393705;ENST00000337131;ENST00000531053;ENST00000404792;ENST00000260049;ENST00000393707	T;T;T;T;T;T;T	0.40476	1.09;1.03;1.09;1.09;1.03;1.09;1.09	4.35	2.46	0.29980	.	0.540328	0.17055	N	0.188774	T	0.56630	0.1998	M	0.68317	2.08	0.09310	N	1	D;D;D	0.76494	0.989;0.996;0.999	D;D;D	0.83275	0.979;0.991;0.996	T	0.41052	-0.9530	10	0.87932	D	0	-1.9178	6.0713	0.19891	0.0:0.7073:0.1911:0.1016	.	22;22;22	O95998-3;G3V1C5;O95998	.;.;I18BP_HUMAN	Y	22	ENSP00000377306:H22Y;ENSP00000434717:H22Y;ENSP00000377308:H22Y;ENSP00000338723:H22Y;ENSP00000434835:H22Y;ENSP00000384212:H22Y;ENSP00000260049:H22Y	ENSP00000260049:H22Y	H	+	1	0	IL18BP	71389080	0.245000	0.23899	0.008000	0.14137	0.045000	0.14185	1.120000	0.31271	0.776000	0.33473	-1.099000	0.02127	CAC		0.612	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2		NM_173042	
SPPL2C	162540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	43923235	43923235	+	Silent	SNP	G	G	A	rs140813443	byFrequency	TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:43923235G>A	ENST00000329196.5	+	1	980	c.963G>A	c.(961-963)ccG>ccA	p.P321P	MAPT-AS1_ENST00000581125.1_RNA|MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	SPP2C_HUMAN	signal peptide peptidase like 2C	321						endoplasmic reticulum membrane (GO:0005789)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)	p.P321P(1)									CCTCTCTGCCGCTGCCTCTGC	0.662													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		18204	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	42.0	43.0	43.0		963	0.8	0.0	17	dbSNP_134	43	0,8600		0,0,4300	no	coding-synonymous	IMP5	NM_175882.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		321/685	43923235	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS32673.1	17q21.31	2014-02-12			ENSG00000185294	ENSG00000185294			28902	protein-coding gene	gene with protein product	"""intramembrane protease 5"""	608284				12139484	Standard	NM_175882		Approved	IMP5	uc010wka.2	Q8IUH8		ENST00000329196.5:c.963G>A	17.37:g.43923235G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8TC67|Q8WVZ6	Silent	SNP	ENST00000329196.5	37	CCDS32673.1																																																																																				0.662	SPPL2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441156.1		NM_175882	
IREB2	3658	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	78765670	78765670	+	Missense_Mutation	SNP	G	G	T	rs149685388		TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr15:78765670G>T	ENST00000258886.8	+	8	1119	c.970G>T	c.(970-972)Ggg>Tgg	p.G324W	IREB2_ENST00000560440.1_Missense_Mutation_p.G324W	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	324					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.G324W(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGAGTTAACTGGGTCATCAAA	0.383																																					NSCLC(200;764 2208 35157 49871 50830)												1	Substitution - Missense(1)	kidney(1)											254.0	229.0	237.0					15																	78765670		2196	4293	6489	SO:0001583	missense	3658			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.970G>T	15.37:g.78765670G>T	ENSP00000258886:p.Gly324Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	ENST00000258886.8	37	CCDS10302.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151162	0.94645	.	.	ENSG00000136381	ENST00000258886	T	0.74209	-0.82	6.08	6.08	0.98989	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.93504	0.7927	H	0.99642	4.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.978	D	0.95655	0.8710	10	0.87932	D	0	.	20.6721	0.99693	0.0:0.0:1.0:0.0	.	324;324	P48200;Q8WVK6	IREB2_HUMAN;.	W	324	ENSP00000258886:G324W	ENSP00000258886:G324W	G	+	1	0	IREB2	76552725	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	9.632000	0.98428	2.894000	0.99253	0.591000	0.81541	GGG		0.383	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3		NM_004136	
JMJD1C	221037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	64954117	64954117	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr10:64954117C>G	ENST00000399262.2	-	14	5881	c.5663G>C	c.(5662-5664)tGg>tCg	p.W1888S	JMJD1C_ENST00000402544.1_Missense_Mutation_p.W1669S|JMJD1C_ENST00000542921.1_Missense_Mutation_p.W1706S|JMJD1C_ENST00000399251.1_3'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1888					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.W1888S(1)|p.W1669S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACACTTCATCCAAGCATATAG	0.303																																																	2	Substitution - Missense(2)	kidney(2)											154.0	142.0	146.0					10																	64954117		1856	4097	5953	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5663G>C	10.37:g.64954117C>G	ENSP00000382204:p.Trp1888Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	CCDS41532.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.3|24.3	4.521545|4.521545	0.85600|0.85600	.|.	.|.	ENSG00000171988|ENSG00000171988	ENST00000327520|ENST00000399262;ENST00000402544;ENST00000542921	.|T;T;T	.|0.61158	.|0.44;0.13;0.45	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.80325|0.80325	0.4602|0.4602	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.997;0.997;0.991	.|D;D;D	.|0.68039	.|0.921;0.921;0.955	D|D	0.83676|0.83676	0.0169|0.0169	5|10	.|0.87932	.|D	.|0	-3.9247|-3.9247	19.3354|19.3354	0.94316|0.94316	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1429;1888;1706	.|A6PW35;Q15652;A0T124	.|.;JHD2C_HUMAN;.	R|S	435|1888;1669;1706	.|ENSP00000382204:W1888S;ENSP00000384990:W1669S;ENSP00000444682:W1706S	.|ENSP00000382204:W1888S	G|W	-|-	1|2	0|0	JMJD1C|JMJD1C	64624123|64624123	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.750000|7.750000	0.85110|0.85110	2.734000|2.734000	0.93682|0.93682	0.655000|0.655000	0.94253|0.94253	GGA|TGG		0.303	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2		NM_004241	
KIAA0319	9856	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24547467	24547467	+	Missense_Mutation	SNP	C	C	G	rs201365492		TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr6:24547467C>G	ENST00000378214.3	-	21	3669	c.3145G>C	c.(3145-3147)Ggg>Cgg	p.G1049R	KIAA0319_ENST00000430948.2_Missense_Mutation_p.G1004R|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G1049R|KIAA0319_ENST00000535378.1_Missense_Mutation_p.G1040R|KIAA0319_ENST00000537886.1_Missense_Mutation_p.G988R	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	1049					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G1049R(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						TTTGGATTCCCTCTCTCCATC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											206.0	191.0	196.0					6																	24547467		2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.3145G>C	6.37:g.24547467C>G	ENSP00000367459:p.Gly1049Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	11.91	1.778361	0.31502	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.10382	2.88;2.94;2.95;2.94;2.94	4.76	3.0	0.34707	.	0.395981	0.23051	N	0.052498	T	0.03915	0.0110	L	0.43923	1.385	0.24931	N	0.991912	B;B;B	0.20671	0.023;0.047;0.028	B;B;B	0.20955	0.023;0.032;0.014	T	0.32719	-0.9896	10	0.72032	D	0.01	-13.749	11.0296	0.47765	0.0:0.8489:0.0:0.1511	.	988;1040;1049	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	R	988;1040;1004;1049;1049	ENSP00000439700:G988R;ENSP00000442403:G1040R;ENSP00000401086:G1004R;ENSP00000367459:G1049R;ENSP00000437656:G1049R	ENSP00000367459:G1049R	G	-	1	0	KIAA0319	24655446	1.000000	0.71417	0.022000	0.16811	0.854000	0.48673	3.754000	0.55189	0.614000	0.30107	-0.137000	0.14449	GGG		0.468	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1		NM_014809	
KIF16B	55614	broad.mit.edu;hgsc.bcm.edu	37	20	16316573	16316574	+	Missense_Mutation	DNP	CT	CT	TG			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr20:16316573_16316574CT>TG	ENST00000354981.2	-	24	3865_3866	c.3708_3709AG>CA	c.(3706-3711)gcAGag>gcCAag	p.E1237K	KIF16B_ENST00000355755.3_Intron|KIF16B_ENST00000378003.2_Missense_Mutation_p.E422K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1237	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.E1237K(2)|p.A1236A(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TAACTTACCTCTGCATACTTTA	0.347																																																	3	Substitution - Missense(2)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3708_3709delinsTG	20.37:g.16316573_16316574delinsTG	ENSP00000347076:p.Glu1237Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation|Silent	SNP	ENST00000354981.2	37	CCDS13122.1																																																																																				0.347	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2		NM_017683	
KRIT1	889	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	91842561	91842561	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:91842561A>T	ENST00000340022.2	-	17	2991	c.1973T>A	c.(1972-1974)gTg>gAg	p.V658E	KRIT1_ENST00000412043.2_Missense_Mutation_p.V658E|KRIT1_ENST00000394507.1_Missense_Mutation_p.V658E|KRIT1_ENST00000394503.2_Missense_Mutation_p.V610E|KRIT1_ENST00000394505.2_Missense_Mutation_p.V658E	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	658	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)	p.V658E(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCTACATACACAGGGATGAC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											168.0	156.0	160.0					7																	91842561		2203	4300	6503	SO:0001583	missense	889			AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.1973T>A	7.37:g.91842561A>T	ENSP00000344668:p.Val658Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Missense_Mutation	SNP	ENST00000340022.2	37	CCDS5624.1	.	.	.	.	.	.	.	.	.	.	A	29.7	5.027699	0.93518	.	.	ENSG00000001631	ENST00000394507;ENST00000340022;ENST00000412043;ENST00000394505;ENST00000394503	T;T;T;T;T	0.76839	0.41;0.41;0.41;0.41;-1.05	6.17	6.17	0.99709	FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.86789	0.6017	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.996	D;D;D	0.78314	0.979;0.991;0.979	D	0.87579	0.2483	10	0.72032	D	0.01	-9.0794	16.8222	0.85835	1.0:0.0:0.0:0.0	.	658;610;658	A4D1F7;A6NNU0;O00522	.;.;KRIT1_HUMAN	E	658;658;658;658;610	ENSP00000378015:V658E;ENSP00000344668:V658E;ENSP00000410909:V658E;ENSP00000378013:V658E;ENSP00000378011:V610E	ENSP00000344668:V658E	V	-	2	0	KRIT1	91680497	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	GTG		0.358	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1			
GBP1P1	400759	broad.mit.edu	37	1	89889894	89889894	+	RNA	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:89889894A>C	ENST00000513638.1	+	0	635					NR_003133.2				guanylate binding protein 1, interferon-inducible pseudogene 1																		TGAGCAGATGATGGAACAGAA	0.468																																																	0																																												0					1p22.2	2011-03-09			ENSG00000225492	ENSG00000225492			39561	pseudogene	pseudogene							Standard	NR_003133		Approved		uc009wcy.1		OTTHUMG00000010128		1.37:g.89889894A>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000513638.1	37																																																																																					0.468	GBP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000360073.1		NR_003133	
MYH11	4629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15854414	15854414	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr16:15854414C>A	ENST00000300036.5	-	11	1340	c.1231G>T	c.(1231-1233)Gct>Tct	p.A411S	MYH11_ENST00000396324.3_Missense_Mutation_p.A418S|MYH11_ENST00000576790.2_Missense_Mutation_p.A411S|MYH11_ENST00000452625.2_Missense_Mutation_p.A418S	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	411	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.A418S(1)|p.A411S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TTTGTCTGAGCTTTCTGTACC	0.443			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	2	Substitution - Missense(2)	kidney(2)											447.0	347.0	381.0					16																	15854414		2197	4300	6497	SO:0001583	missense	4629			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1231G>T	16.37:g.15854414C>A	ENSP00000300036:p.Ala411Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372446	0.82573	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.0	5.0	0.66597	Myosin head, motor domain (2);	0.129073	0.52532	D	0.000079	D	0.90075	0.6900	L	0.45285	1.41	0.80722	D	1	B;B;B;B;B;P	0.37276	0.097;0.385;0.385;0.385;0.385;0.589	P;P;P;P;P;P	0.53518	0.621;0.621;0.621;0.621;0.621;0.728	D	0.90995	0.4838	10	0.87932	D	0	.	17.3351	0.87278	0.0:1.0:0.0:0.0	.	418;411;411;418;411;418	B1PS43;D2JYH7;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;.;MYH11_HUMAN;.;.;.	S	411;411;418;418;418	ENSP00000300036:A411S;ENSP00000345136:A411S;ENSP00000379616:A418S;ENSP00000407821:A418S	ENSP00000300036:A411S	A	-	1	0	MYH11	15761915	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.795000	0.85887	2.336000	0.79503	0.306000	0.20318	GCT		0.443	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2		NM_001040113	
MYLK3	91807	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	46743538	46743538	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr16:46743538A>T	ENST00000394809.4	-	12	2428	c.2313T>A	c.(2311-2313)aaT>aaA	p.N771K	MYLK3_ENST00000536476.1_Missense_Mutation_p.N430K|MYLK3_ENST00000562104.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	771					cardiac myofibril assembly (GO:0055003)|cellular response to interleukin-1 (GO:0071347)|positive regulation of sarcomere organization (GO:0060298)|protein phosphorylation (GO:0006468)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|myosin light chain kinase activity (GO:0004687)	p.N771K(1)|p.N850K(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGGCAAATTATTCAGCCACT	0.413																																																	2	Substitution - Missense(2)	kidney(2)											172.0	162.0	166.0					16																	46743538		2203	4300	6503	SO:0001583	missense	91807			AJ247087	CCDS10723.2	16q11.2	2008-10-23			ENSG00000140795	ENSG00000140795			29826	protein-coding gene	gene with protein product	"""MLC kinase"""	612147				17885681	Standard	NM_182493		Approved	caMLCK, MLCK	uc002eei.4	Q32MK0	OTTHUMG00000132543	ENST00000394809.4:c.2313T>A	16.37:g.46743538A>T	ENSP00000378288:p.Asn771Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B5BUL9|B7Z5U8|Q32MK1|Q96DV1	Missense_Mutation	SNP	ENST00000394809.4	37	CCDS10723.2	.	.	.	.	.	.	.	.	.	.	A	12.88	2.071741	0.36566	.	.	ENSG00000140795	ENST00000394809;ENST00000536476	T;T	0.37752	1.18;1.18	6.03	2.64	0.31445	Protein kinase-like domain (1);	0.207309	0.24215	N	0.040490	T	0.28962	0.0719	L	0.58101	1.795	0.31194	N	0.700609	B	0.23937	0.094	B	0.19946	0.027	T	0.22906	-1.0203	10	0.25751	T	0.34	.	5.7661	0.18227	0.4939:0.1437:0.3624:0.0	.	771	Q32MK0	MYLK3_HUMAN	K	771;430	ENSP00000378288:N771K;ENSP00000439297:N430K	ENSP00000378288:N771K	N	-	3	2	MYLK3	45301039	0.005000	0.15991	0.287000	0.24848	0.966000	0.64601	0.016000	0.13377	0.190000	0.20209	0.454000	0.30748	AAT		0.413	MYLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255743.2		NM_182493	
NCOR1	9611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	15961009	15961009	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:15961009G>T	ENST00000268712.3	-	40	6468	c.6211C>A	c.(6211-6213)Cag>Aag	p.Q2071K	NCOR1_ENST00000395857.3_Missense_Mutation_p.Q655K|NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1968K	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2071	ID1. {ECO:0000250}.|Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.Q2071K(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGGGAGTCTGCGAGGAAACT	0.398																																																	1	Substitution - Missense(1)	kidney(1)											103.0	104.0	104.0					17																	15961009		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6211C>A	17.37:g.15961009G>T	ENSP00000268712:p.Gln2071Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	ENST00000268712.3	37	CCDS11175.1	.	.	.	.	.	.	.	.	.	.	G	15.05	2.716943	0.48622	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.42513	0.97;1.55;0.97	5.17	5.17	0.71159	.	0.176060	0.50627	D	0.000102	T	0.36110	0.0955	N	0.25647	0.755	0.43740	D	0.996232	B;B;P;P;B;P	0.50528	0.013;0.02;0.779;0.902;0.043;0.936	B;B;B;B;B;P	0.45195	0.015;0.01;0.204;0.417;0.073;0.473	T	0.06807	-1.0806	10	0.25106	T	0.35	.	17.6463	0.88149	0.0:0.0:1.0:0.0	.	881;1975;2071;1968;591;85	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1;Q86YY2	.;.;NCOR1_HUMAN;.;.;.	K	2071;1968;1975;655	ENSP00000268712:Q2071K;ENSP00000379192:Q1968K;ENSP00000379198:Q655K	ENSP00000268712:Q2071K	Q	-	1	0	NCOR1	15901734	1.000000	0.71417	0.957000	0.39632	0.866000	0.49608	8.816000	0.91979	2.396000	0.81511	0.655000	0.94253	CAG		0.398	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5		NM_006311	
NEBL	10529	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	21076186	21076186	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr10:21076186T>C	ENST00000377122.4	-	27	3209	c.2813A>G	c.(2812-2814)tAc>tGc	p.Y938C	NEBL_ENST00000417816.2_Missense_Mutation_p.Y194C|NEBL_ENST00000377159.4_Missense_Mutation_p.Y160C	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	938	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)	p.Y194C(1)|p.Y938C(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGGTGCATGTAGCCATAGCC	0.458																																																	2	Substitution - Missense(2)	kidney(2)											230.0	173.0	192.0					10																	21076186		2203	4300	6503	SO:0001583	missense	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2813A>G	10.37:g.21076186T>C	ENSP00000366326:p.Tyr938Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Missense_Mutation	SNP	ENST00000377122.4	37	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	T	19.56	3.849966	0.71603	.	.	ENSG00000078114	ENST00000377122;ENST00000417816;ENST00000377159	T;T;T	0.18657	2.2;2.2;2.2	6.03	4.88	0.63580	Src homology-3 domain (1);	0.075229	0.53938	D	0.000060	T	0.36468	0.0968	L	0.46157	1.445	0.58432	D	0.999997	D;P	0.76494	0.999;0.667	D;B	0.69142	0.962;0.325	T	0.03296	-1.1051	10	0.40728	T	0.16	.	12.1688	0.54146	0.1369:0.0:0.0:0.8631	.	194;938	Q70I54;O76041	.;NEBL_HUMAN	C	938;194;160	ENSP00000366326:Y938C;ENSP00000393896:Y194C;ENSP00000366364:Y160C	ENSP00000366326:Y938C	Y	-	2	0	NEBL	21116192	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.649000	0.67936	1.052000	0.40392	0.533000	0.62120	TAC		0.458	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1		NM_006393	
NABP1	64859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	192546733	192546733	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:192546733A>C	ENST00000425611.2	+	3	375	c.292A>C	c.(292-294)Aaa>Caa	p.K98Q	NABP1_ENST00000410026.2_Missense_Mutation_p.K18Q|NABP1_ENST00000409510.1_Missense_Mutation_p.K18Q	NM_001031716.2	NP_001026886.1	Q96AH0	SOSB2_HUMAN	nucleic acid binding protein 1	98					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|mitotic cell cycle checkpoint (GO:0007093)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SOSS complex (GO:0070876)	RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.K98Q(1)									TGAACTTCAAAAAATTGGGGA	0.308																																																	1	Substitution - Missense(1)	kidney(1)											58.0	61.0	60.0					2																	192546733		2203	4294	6497	SO:0001583	missense	0			BC017114	CCDS33352.1, CCDS58745.1	2q32.3	2012-06-19	2012-06-19	2012-06-19	ENSG00000173559	ENSG00000173559			26232	protein-coding gene	gene with protein product	"""single-stranded DNA-binding protein 2"", ""sensor of single-strand DNA complex subunit B2"""	612103	"""oligonucleotide/oligosaccharide-binding fold containing 2A"""	OBFC2A			Standard	NM_001031716		Approved	FLJ22833, DKFZp667M1322, FLJ13624, MGC111163, SSB2, hSSB2, SOSS-B2	uc002usx.3	Q96AH0	OTTHUMG00000132720	ENST00000425611.2:c.292A>C	2.37:g.192546733A>C	ENSP00000403683:p.Lys98Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q658Y8|Q9H5X6	Missense_Mutation	SNP	ENST00000425611.2	37	CCDS33352.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.4|24.4	4.530230|4.530230	0.85706|0.85706	.|.	.|.	ENSG00000173559|ENSG00000173559	ENST00000435931|ENST00000410026;ENST00000409510;ENST00000425611	.|T;T;T	.|0.34472	.|1.36;1.36;1.36	5.76|5.76	4.55|4.55	0.56014|0.56014	.|Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.054326|0.054326	0.64402|0.64402	D|D	0.000002|0.000002	T|T	0.64170|0.64170	0.2574|0.2574	M|M	0.88181|0.88181	2.935|2.935	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D	.|0.89917	.|1.0;0.995	.|D;D	.|0.76575	.|0.988;0.957	T|T	0.71632|0.71632	-0.4534|-0.4534	6|10	.|0.87932	.|D	.|0	.|.	12.6211|12.6211	0.56603|0.56603	0.8619:0.1381:0.0:0.0|0.8619:0.1381:0.0:0.0	.|.	.|18;98	.|Q96AH0-2;Q96AH0	.|.;SOSB2_HUMAN	N|Q	67|18;18;98	.|ENSP00000387243:K18Q;ENSP00000386605:K18Q;ENSP00000403683:K98Q	.|ENSP00000310819:K18Q	K|K	+|+	3|1	2|0	OBFC2A|OBFC2A	192254978|192254978	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.996000|0.996000	0.88848|0.88848	7.365000|7.365000	0.79537|0.79537	2.202000|2.202000	0.70862|0.70862	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.308	NABP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256060.1		NM_022837	
ODF2	4957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131256864	131256864	+	Silent	SNP	C	C	T	rs533246171		TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr9:131256864C>T	ENST00000434106.3	+	17	2191	c.1828C>T	c.(1828-1830)Ctg>Ttg	p.L610L	ODF2_ENST00000372791.3_Silent_p.L591L|ODF2_ENST00000393533.2_Silent_p.L610L|ODF2_ENST00000372814.3_Silent_p.L654L|ODF2_ENST00000546203.1_Silent_p.L591L|ODF2_ENST00000444119.2_Silent_p.L586L|ODF2_ENST00000448249.3_Silent_p.L529L|ODF2_ENST00000372807.5_Silent_p.L605L|ODF2_ENST00000351030.3_Silent_p.L605L|ODF2_ENST00000604420.1_Silent_p.L610L|ODF2_ENST00000393527.3_Silent_p.L586L	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	610					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.L586L(1)|p.L654L(1)|p.L610L(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						GGAGGCGAAGCTGGCTGAGTG	0.572																																																	3	Substitution - coding silent(3)	kidney(3)											73.0	63.0	67.0					9																	131256864		2203	4300	6503	SO:0001819	synonymous_variant	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1828C>T	9.37:g.131256864C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	CCDS56588.1																																																																																				0.572	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			
OPA1	4976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	193366636	193366636	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:193366636T>C	ENST00000392438.3	+	19	2057	c.1823T>C	c.(1822-1824)cTg>cCg	p.L608P	OPA1_ENST00000361828.2_Missense_Mutation_p.L626P|OPA1_ENST00000361715.2_Missense_Mutation_p.L627P|OPA1_ENST00000361510.2_Missense_Mutation_p.L663P|OPA1_ENST00000361908.3_Missense_Mutation_p.L645P|OPA1_ENST00000361150.2_Missense_Mutation_p.L609P	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	608					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)	p.L663P(1)		breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTTATCAGTCTGAGCCAGGTT	0.289																																																	1	Substitution - Missense(1)	kidney(1)											94.0	104.0	100.0					3																	193366636		2203	4297	6500	SO:0001583	missense	4976			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1823T>C	3.37:g.193366636T>C	ENSP00000376233:p.Leu608Pro	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNW4	Missense_Mutation	SNP	ENST00000392438.3	37	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.688593	0.88639	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.97665	-4.1;-4.09;-4.02;-4.06;-4.12;-4.48	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	M	0.76170	2.325	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.996;0.998;0.996;0.996;0.999;0.998;0.998;0.998	D	0.99260	1.0890	10	0.87932	D	0	-8.652	15.825	0.78698	0.0:0.0:0.0:1.0	.	572;608;590;609;626;645;627;663	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	P	645;608;663;627;626;609	ENSP00000354681:L645P;ENSP00000376233:L608P;ENSP00000355324:L663P;ENSP00000355311:L627P;ENSP00000354429:L626P;ENSP00000354781:L609P	ENSP00000354781:L609P	L	+	2	0	OPA1	194849330	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.578000	0.82498	2.333000	0.79357	0.533000	0.62120	CTG		0.289	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2		NM_130837	
OR2AG1	144125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6806547	6806547	+	Silent	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr11:6806547C>T	ENST00000307401.4	+	1	300	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S93S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACACCATCTCCTTTGGAGGCT	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											113.0	101.0	105.0					11																	6806547		2201	4296	6497	SO:0001819	synonymous_variant	144125			AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.279C>T	11.37:g.6806547C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B9EKV7|Q6IFG7|Q96R26	Silent	SNP	ENST00000307401.4	37	CCDS31414.1																																																																																				0.547	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1		NM_001004489	
OR3A4P	390756	broad.mit.edu;hgsc.bcm.edu	37	17	3213556	3213556	+	RNA	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:3213556C>T	ENST00000573491.1	-	0	359																											CTTCTGCCACCACCGGCCCCA	0.502																																																	0													66.0	59.0	61.0					17																	3213556		2203	4300	6503			0																															17.37:g.3213556C>T		Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000573491.1	37																																																																																					0.502	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1			
MED29	55588	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39880356	39880356	+	5'Flank	SNP	A	A	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:39880356A>G	ENST00000599213.2	+	0	0				PAF1_ENST00000221266.7_Silent_p.H62H|MED29_ENST00000594368.1_5'Flank|MED29_ENST00000315588.5_5'Flank|PAF1_ENST00000221265.3_Silent_p.H72H|PAF1_ENST00000595564.1_Silent_p.H62H			Q9NX70	MED29_HUMAN	mediator complex subunit 29						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleus (GO:0005634)		p.H72H(1)		lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCAGGAGGTCATGTTTGTGCT	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											199.0	171.0	180.0					19																	39880356		2203	4300	6503	SO:0001631	upstream_gene_variant	54623			AL137304, AY729650	CCDS33021.1	19q13.2	2007-07-30	2007-07-30	2007-07-30		ENSG00000063322			23074	protein-coding gene	gene with protein product		612914	"""intersex-like (Drosophila)"""	IXL		15555573	Standard	NM_017592		Approved	DKFZp434H247	uc010xux.3	Q9NX70			19.37:g.39880356A>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	B4DNQ6|M0R2E4|Q5XX09|Q9NTF4	Silent	SNP	ENST00000599213.2	37																																																																																					0.552	MED29-011	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470870.1		XM_290829	
PCDH1	5097	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141243421	141243421	+	Silent	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:141243421G>A	ENST00000394536.3	-	3	2614	c.2475C>T	c.(2473-2475)ctC>ctT	p.L825L	PCDH1_ENST00000536585.1_Silent_p.L803L|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Silent_p.L813L|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000287008.3_Silent_p.L825L	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	825	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L825L(1)		breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGTGGCCCAGGAGGGTCTCCA	0.582																																					Ovarian(132;1609 1739 4190 14731 45037)												1	Substitution - coding silent(1)	kidney(1)											69.0	71.0	71.0					5																	141243421		2203	4300	6503	SO:0001819	synonymous_variant	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2475C>T	5.37:g.141243421G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q8IUP2	Silent	SNP	ENST00000394536.3	37	CCDS43375.1																																																																																				0.582	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251862.1		NM_032420	
PCNX	22990	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	71479737	71479737	+	Silent	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr14:71479737G>A	ENST00000304743.2	+	11	3260	c.2814G>A	c.(2812-2814)ttG>ttA	p.L938L	PCNX_ENST00000439984.3_Silent_p.L827L|PCNX_ENST00000238570.5_Silent_p.L938L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	938						integral component of membrane (GO:0016021)		p.L938L(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATAGACTATTGACCATTGATA	0.373																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	109.0	110.0					14																	71479737		2203	4300	6503	SO:0001819	synonymous_variant	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.2814G>A	14.37:g.71479737G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RTR6|O94897|Q96AI7|Q9Y2J9	Silent	SNP	ENST00000304743.2	37	CCDS9806.1																																																																																				0.373	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1		NM_014982	
PI4KA	5297	hgsc.bcm.edu	37	22	21068764	21068765	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr22:21068764_21068765insA	ENST00000572273.1	-	47	5498_5499	c.5268_5269insT	c.(5266-5271)gttagtfs	p.S1757fs	PI4KA_ENST00000414196.3_Frame_Shift_Ins_p.S567fs|PI4KA_ENST00000255882.6_Frame_Shift_Ins_p.S1815fs			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1757	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity. {ECO:0000250}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCAAGTTCACTAACTCCACATC	0.426																																					GBM(136;1332 1831 3115 23601 50806)												0																																										SO:0001589	frameshift_variant	5297			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.5269dupT	22.37:g.21068766_21068766dupA	ENSP00000458238:p.Ser1757fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z625|Q9UPG2	Frame_Shift_Del	INS	ENST00000572273.1	37																																																																																					0.426	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_058004	
PIK3CA	5290	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	178952090	178952090	+	Missense_Mutation	SNP	G	G	C	rs121913277		TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:178952090G>C	ENST00000263967.3	+	21	3302	c.3145G>C	c.(3145-3147)Ggt>Cgt	p.G1049R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1049	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		G -> S (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G1049R(27)|p.G1049S(13)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGCACATCATGGTGGCTGGAC	0.378		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	40	Substitution - Missense(40)	breast(12)|endometrium(7)|lung(4)|thyroid(3)|large_intestine(3)|central_nervous_system(3)|upper_aerodigestive_tract(2)|urinary_tract(2)|kidney(2)|ovary(1)|pancreas(1)											98.0	88.0	91.0					3																	178952090		1919	4132	6051	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3145G>C	3.37:g.178952090G>C	ENSP00000263967:p.Gly1049Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.697316	0.30142	.	.	ENSG00000121879	ENST00000263967	T	0.80824	-1.42	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.78084	0.4228	L	0.48642	1.525	0.80722	D	1	B	0.30914	0.3	B	0.28916	0.096	T	0.73668	-0.3910	10	0.41790	T	0.15	-16.0151	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1049	P42336	PK3CA_HUMAN	R	1049	ENSP00000263967:G1049R	ENSP00000263967:G1049R	G	+	1	0	PIK3CA	180434784	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	GGT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			
PLXDC1	57125	broad.mit.edu	37	17	37265509	37265509	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:37265509G>A	ENST00000315392.4	-	3	602	c.391C>T	c.(391-393)Cag>Tag	p.Q131*	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000444911.2_Nonsense_Mutation_p.Q91*|PLXDC1_ENST00000394316.2_Nonsense_Mutation_p.Q131*|PLXDC1_ENST00000539608.1_Nonsense_Mutation_p.Q58*	NM_020405.4	NP_065138.2	Q8IUK5	PLDX1_HUMAN	plexin domain containing 1	131					angiogenesis (GO:0001525)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)	receptor activity (GO:0004872)	p.Q131*(1)		kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						ACCGAAGCCTGCCGGTGGGTG	0.662																																																	1	Substitution - Nonsense(1)	kidney(1)											101.0	90.0	94.0					17																	37265509		2203	4300	6503	SO:0001587	stop_gained	57125			AF279144	CCDS11333.1	17q21.1	2006-04-12			ENSG00000161381	ENSG00000161381			20945	protein-coding gene	gene with protein product	"""tumor endothelial marker 7 precursor"""	606826				10947988, 11559528	Standard	NM_020405		Approved	TEM3, TEM7	uc002hrg.2	Q8IUK5	OTTHUMG00000133183	ENST00000315392.4:c.391C>T	17.37:g.37265509G>A	ENSP00000323927:p.Gln131*	Somatic		WXS	Illumina GAIIx	Phase_I	B2R7I8|Q5QCZ7|Q5QCZ8|Q5QCZ9|Q9HCT9	Nonsense_Mutation	SNP	ENST00000315392.4	37	CCDS11333.1	.	.	.	.	.	.	.	.	.	.	G	36	5.942266	0.97128	.	.	ENSG00000161381	ENST00000315392;ENST00000394318;ENST00000539608;ENST00000444911;ENST00000394316;ENST00000441877;ENST00000415163	.	.	.	4.86	4.86	0.63082	.	0.307836	0.32578	N	0.005902	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-19.9574	16.9265	0.86178	0.0:0.0:1.0:0.0	.	.	.	.	X	131;58;58;91;131;58;58	.	ENSP00000323927:Q131X	Q	-	1	0	PLXDC1	34519035	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.350000	0.97070	2.411000	0.81874	0.563000	0.77884	CAG		0.662	PLXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256892.2		NM_020405	
POC1B	282809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	89885862	89885862	+	Silent	SNP	A	A	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr12:89885862A>G	ENST00000313546.3	-	4	431	c.303T>C	c.(301-303)caT>caC	p.H101H	POC1B_ENST00000549035.1_Silent_p.H59H|POC1B_ENST00000549504.1_5'UTR|POC1B_ENST00000541909.1_5'UTR|POC1B_ENST00000393179.4_5'UTR|POC1B_ENST00000378528.2_5'UTR	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	101					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)		p.H101H(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGGAGCTGTATGAGCTTTAA	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											74.0	74.0	74.0					12																	89885862		2203	4300	6503	SO:0001819	synonymous_variant	282809			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.303T>C	12.37:g.89885862A>G		Somatic		WXS	Illumina HiSeq	Phase_I	G3V1X0	Silent	SNP	ENST00000313546.3	37	CCDS31869.1																																																																																				0.343	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1		NM_172240	
RBM25	58517	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	73570036	73570036	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr14:73570036G>C	ENST00000261973.7	+	10	1289	c.1004G>C	c.(1003-1005)cGa>cCa	p.R335P	RBM25_ENST00000527432.1_Missense_Mutation_p.R335P	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	335	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R335P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		gaacgtgaacgagaaaaggag	0.522																																																	1	Substitution - Missense(1)	kidney(1)											161.0	140.0	147.0					14																	73570036		2203	4300	6503	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.1004G>C	14.37:g.73570036G>C	ENSP00000261973:p.Arg335Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	ENST00000261973.7	37	CCDS32113.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.495967	0.44352	.	.	ENSG00000119707	ENST00000261973;ENST00000527432	T;T	0.58940	0.3;0.3	5.35	5.35	0.76521	.	0.450628	0.23250	N	0.050245	T	0.67411	0.2890	L	0.46157	1.445	0.80722	D	1	D	0.61080	0.989	P	0.59546	0.859	T	0.65676	-0.6110	10	0.44086	T	0.13	.	17.208	0.86923	0.0:0.0:1.0:0.0	.	335	P49756	RBM25_HUMAN	P	335	ENSP00000261973:R335P;ENSP00000431150:R335P	ENSP00000261973:R335P	R	+	2	0	RBM25	72639789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.665000	0.90641	0.591000	0.81541	CGA		0.522	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1		XM_027330	
RFC1	5981	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	39324978	39324978	+	Silent	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr4:39324978T>C	ENST00000381897.1	-	7	835	c.702A>G	c.(700-702)gaA>gaG	p.E234E	RFC1_ENST00000349703.2_Silent_p.E234E|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	234					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.E234E(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCTTGGGTTCTTCATCCAACA	0.423																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												1	Substitution - coding silent(1)	kidney(1)											215.0	172.0	187.0					4																	39324978		2203	4300	6503	SO:0001819	synonymous_variant	5981			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.702A>G	4.37:g.39324978T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Silent	SNP	ENST00000381897.1	37	CCDS56329.1																																																																																				0.423	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1		NM_002913	
RFTN1	23180	broad.mit.edu;ucsc.edu	37	3	16535237	16535237	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:16535237C>A	ENST00000334133.4	-	2	412	c.140G>T	c.(139-141)aGt>aTt	p.S47I		NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	47					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)	p.S47I(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CTCACCAGCACTCAGAGTCGT	0.557																																																	1	Substitution - Missense(1)	kidney(1)											160.0	165.0	163.0					3																	16535237		2203	4300	6503	SO:0001583	missense	23180			D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.140G>T	3.37:g.16535237C>A	ENSP00000334153:p.Ser47Ile	Somatic		WXS	Illumina GAIIx	Phase_I	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Missense_Mutation	SNP	ENST00000334133.4	37	CCDS33712.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433903	0.43224	.	.	ENSG00000131378	ENST00000334133;ENST00000451036;ENST00000449415;ENST00000441460;ENST00000431547	T;T	0.46451	1.44;0.87	5.44	-1.2	0.09554	.	0.399100	0.25442	N	0.030650	T	0.34164	0.0888	L	0.29908	0.895	0.19300	N	0.999978	D	0.53462	0.96	P	0.49276	0.605	T	0.35101	-0.9802	10	0.72032	D	0.01	-3.0974	10.0583	0.42259	0.0:0.2858:0.5383:0.1758	.	47	Q14699	RFTN1_HUMAN	I	47	ENSP00000334153:S47I;ENSP00000403997:S47I	ENSP00000334153:S47I	S	-	2	0	RFTN1	16510241	0.556000	0.26538	0.091000	0.20842	0.511000	0.34104	0.841000	0.27613	-0.006000	0.14370	0.561000	0.74099	AGT		0.557	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1		NM_015150	
RIN3	79890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	93118453	93118453	+	Silent	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr14:93118453C>A	ENST00000216487.7	+	6	1218	c.1059C>A	c.(1057-1059)ccC>ccA	p.P353P	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	353	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P353P(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCTGGGCCCCCTCAGGGAGG	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											25.0	27.0	26.0					14																	93118453		2115	4205	6320	SO:0001819	synonymous_variant	79890			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1059C>A	14.37:g.93118453C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	CCDS32144.1																																																																																				0.682	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			
RNF4	6047	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	2515531	2515531	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr4:2515531C>A	ENST00000511600.1	+	8	2073	c.558C>A	c.(556-558)caC>caA	p.H186Q	RNF4_ENST00000511859.1_3'UTR|RNF4_ENST00000541204.1_Missense_Mutation_p.H186Q|RNF4_ENST00000506706.1_Missense_Mutation_p.H186Q|RNF4_ENST00000314289.8_Missense_Mutation_p.H186Q			P78317	RNF4_HUMAN	ring finger protein 4	186					androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SUMO polymer binding (GO:0032184)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H220Q(1)		endometrium(2)|kidney(2)|lung(1)	5		all_epithelial(65;0.241)				AACGGTACCACCCCATTTATA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											107.0	105.0	105.0					4																	2515531		1908	4124	6032	SO:0001583	missense	6047			U95140	CCDS47001.1, CCDS54713.1	4p16.3	2013-01-09				ENSG00000063978		"""RING-type (C3HC4) zinc fingers"""	10067	protein-coding gene	gene with protein product		602850				9479498	Standard	NM_001185009		Approved	RES4-26, SNURF, SLX5	uc003gfb.3	P78317		ENST00000511600.1:c.558C>A	4.37:g.2515531C>A	ENSP00000426503:p.His186Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6D6|D6RF58|Q49AR8	Missense_Mutation	SNP	ENST00000511600.1	37	CCDS47001.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362325	0.61403	.	.	ENSG00000063978	ENST00000314289;ENST00000541204;ENST00000502316;ENST00000506706;ENST00000511600	T;T;T;T;T	0.55413	0.63;0.6;0.52;0.63;0.63	5.32	3.28	0.37604	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	M	0.72624	2.21	0.58432	D	0.999997	P	0.36599	0.56	B	0.31547	0.132	T	0.38415	-0.9662	10	0.34782	T	0.22	-26.3441	6.8891	0.24220	0.0:0.6973:0.0:0.3027	.	186	P78317	RNF4_HUMAN	Q	186	ENSP00000315212:H186Q;ENSP00000446369:H186Q;ENSP00000423100:H186Q;ENSP00000424076:H186Q;ENSP00000426503:H186Q	ENSP00000315212:H186Q	H	+	3	2	RNF4	2485329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.424000	0.44714	1.214000	0.43395	0.655000	0.94253	CAC		0.488	RNF4-005	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360920.1		NM_002938	
RPGRIP1L	23322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	53692370	53692370	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr16:53692370C>G	ENST00000379925.3	-	12	1407	c.1357G>C	c.(1357-1359)Gat>Cat	p.D453H	RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.D453H|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.D453H|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.D453H	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	453					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)	p.D453H(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCATTAATATCATTCTCCTGC	0.333																																																	1	Substitution - Missense(1)	kidney(1)											94.0	88.0	90.0					16																	53692370		2198	4299	6497	SO:0001583	missense	23322				CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1357G>C	16.37:g.53692370C>G	ENSP00000369257:p.Asp453His	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.039951	0.35989	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.90197	-2.63;-2.63	5.71	3.78	0.43462	.	0.367137	0.33382	N	0.004961	D	0.91794	0.7404	L	0.43152	1.355	0.80722	D	1	D;D;D;D	0.69078	0.987;0.994;0.997;0.985	P;P;P;P	0.62813	0.789;0.838;0.907;0.849	D	0.91294	0.5061	10	0.62326	D	0.03	-9.33	12.114	0.53856	0.0:0.8623:0.0:0.1377	.	453;453;453;453	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	H	453	ENSP00000369257:D453H;ENSP00000262135:D453H	ENSP00000262135:D453H	D	-	1	0	RPGRIP1L	52249871	1.000000	0.71417	1.000000	0.80357	0.023000	0.10783	3.891000	0.56227	0.777000	0.33496	-0.781000	0.03364	GAT		0.333	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1		NM_015272	
SELL	6402	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	169677787	169677787	+	Silent	SNP	A	A	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:169677787A>T	ENST00000236147.4	-	3	442	c.282T>A	c.(280-282)ccT>ccA	p.P94P	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	81	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)	p.P81P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					AACGACTGAAAGGCAGAGTCT	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											76.0	69.0	71.0					1																	169677787		1890	4115	6005	SO:0001819	synonymous_variant	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.282T>A	1.37:g.169677787A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2R6Q8|P15023|Q9UJ43	Silent	SNP	ENST00000236147.4	37	CCDS53427.1																																																																																				0.448	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1		NM_000655	
SEPSECS	51091	broad.mit.edu	37	4	25160704	25160704	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr4:25160704T>C	ENST00000382103.2	-	2	212	c.140A>G	c.(139-141)gAt>gGt	p.D47G	PI4K2B_ENST00000512921.1_5'Flank|SEPSECS_ENST00000302922.3_Intron	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	47					selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)	p.D47G(2)		endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				TGTACTTTCATCCCAGCCATT	0.363																																																	2	Substitution - Missense(2)	prostate(1)|kidney(1)											118.0	108.0	111.0					4																	25160704		1865	4098	5963	SO:0001583	missense	51091			AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.140A>G	4.37:g.25160704T>C	ENSP00000371535:p.Asp47Gly	Somatic		WXS	Illumina GAIIx	Phase_I	A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Missense_Mutation	SNP	ENST00000382103.2	37	CCDS3432.2	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137631	0.37728	.	.	ENSG00000109618	ENST00000382103;ENST00000513285	D;D	0.81908	-1.55;-1.55	5.71	5.71	0.89125	Pyridoxal phosphate-dependent transferase, major domain (1);	0.188853	0.56097	D	0.000029	D	0.84257	0.5432	M	0.72894	2.215	0.80722	D	1	B;B	0.25904	0.137;0.028	B;B	0.32533	0.147;0.008	T	0.82750	-0.0303	10	0.56958	D	0.05	-2.1426	15.9715	0.80025	0.0:0.0:0.0:1.0	.	46;47	Q9HD40-3;Q9HD40	.;SPCS_HUMAN	G	47;132	ENSP00000371535:D47G;ENSP00000423361:D132G	ENSP00000371535:D47G	D	-	2	0	SEPSECS	24769802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.862000	0.48388	2.165000	0.68154	0.528000	0.53228	GAT		0.363	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2		NM_016955	
SH3TC2	79628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	148406556	148406556	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr5:148406556C>G	ENST00000515425.1	-	11	2840	c.2739G>C	c.(2737-2739)aaG>aaC	p.K913N	SH3TC2_ENST00000538184.1_Missense_Mutation_p.K460N|SH3TC2_ENST00000512049.1_Missense_Mutation_p.K906N|SH3TC2_ENST00000394358.2_Missense_Mutation_p.K798N|SH3TC2_ENST00000513340.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	913					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)		p.K913N(1)|p.K798N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCTGTCTCCTTACTGGCCT	0.502																																																	2	Substitution - Missense(2)	kidney(2)											132.0	138.0	136.0					5																	148406556		2203	4300	6503	SO:0001583	missense	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2739G>C	5.37:g.148406556C>G	ENSP00000423660:p.Lys913Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	1.263	-0.615220	0.03663	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.78246	-1.05;-1.16;-1.16;-0.62	6.02	4.15	0.48705	Tetratricopeptide-like helical (1);	0.500805	0.20068	N	0.099924	T	0.54886	0.1886	L	0.29908	0.895	0.28213	N	0.926841	P;B;B;B	0.40000	0.698;0.09;0.201;0.09	B;B;B;B	0.26693	0.072;0.023;0.037;0.023	T	0.48328	-0.9045	10	0.17832	T	0.49	-4.7453	5.385	0.16213	0.2072:0.5377:0.1856:0.0695	.	798;906;913;913	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	N	460;913;906;798	ENSP00000441427:K460N;ENSP00000423660:K913N;ENSP00000421860:K906N;ENSP00000377886:K798N	ENSP00000377886:K798N	K	-	3	2	SH3TC2	148386749	0.001000	0.12720	0.989000	0.46669	0.573000	0.36030	-0.255000	0.08769	1.560000	0.49568	0.650000	0.86243	AAG		0.502	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2		NM_024577	
SLC29A2	3177	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	66136951	66136951	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr11:66136951C>G	ENST00000357440.2	-	3	392	c.164G>C	c.(163-165)aGc>aCc	p.S55T	SLC29A2_ENST00000311161.7_Missense_Mutation_p.S55T|SLC29A2_ENST00000546034.1_Missense_Mutation_p.S55T|SLC29A2_ENST00000544554.1_Missense_Mutation_p.S55T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	55					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)	p.S55T(1)		breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GTGGTTGGTGCTCAGGATCCT	0.637																																																	1	Substitution - Missense(1)	kidney(1)											189.0	184.0	186.0					11																	66136951		2200	4295	6495	SO:0001583	missense	3177			X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.164G>C	11.37:g.66136951C>G	ENSP00000350024:p.Ser55Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	C	0.335	-0.953663	0.02285	.	.	ENSG00000174669	ENST00000311161;ENST00000357440;ENST00000544554;ENST00000546034	T;T;T;T	0.22134	1.97;1.97;1.97;1.97	4.85	0.791	0.18619	.	0.902618	0.08892	U	0.878485	T	0.15739	0.0379	L	0.43923	1.385	0.09310	N	1	P;B	0.39311	0.667;0.181	B;B	0.35727	0.209;0.068	T	0.23976	-1.0173	10	0.19590	T	0.45	2.2815	8.0914	0.30803	0.0:0.5654:0.0:0.4346	.	55;55	G5E943;Q14542	.;S29A2_HUMAN	T	55	ENSP00000311250:S55T;ENSP00000350024:S55T;ENSP00000439456:S55T;ENSP00000440329:S55T	ENSP00000311250:S55T	S	-	2	0	SLC29A2	65893527	0.000000	0.05858	0.154000	0.22540	0.019000	0.09904	-0.139000	0.10358	0.143000	0.18926	-0.266000	0.10368	AGC		0.637	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1		NM_001532	
SLFN11	91607	broad.mit.edu;hgsc.bcm.edu	37	17	33689790	33689790	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:33689790T>G	ENST00000394566.1	-	4	1309	c.1037A>C	c.(1036-1038)aAa>aCa	p.K346T	SLFN11_ENST00000308377.4_Missense_Mutation_p.K346T	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	346					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)	p.K346T(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCTACCCATTTCTCGGTTGT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											90.0	81.0	84.0					17																	33689790		2203	4300	6503	SO:0001583	missense	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.1037A>C	17.37:g.33689790T>G	ENSP00000378067:p.Lys346Thr	Somatic		WXS	Illumina HiSeq	Phase_I	E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	CCDS11294.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846897	0.32606	.	.	ENSG00000172716	ENST00000308377;ENST00000394566	T;T	0.59364	0.27;0.27	4.14	4.14	0.48551	.	0.662299	0.12337	N	0.477857	T	0.47655	0.1457	L	0.36672	1.1	0.09310	N	1	B	0.19445	0.036	B	0.17979	0.02	T	0.44862	-0.9300	10	0.87932	D	0	.	9.4975	0.38997	0.0:0.0:0.0:1.0	.	346	Q7Z7L1	SLN11_HUMAN	T	346	ENSP00000312402:K346T;ENSP00000378067:K346T	ENSP00000312402:K346T	K	-	2	0	SLFN11	30713903	0.128000	0.22383	0.000000	0.03702	0.006000	0.05464	4.395000	0.59678	1.739000	0.51704	0.528000	0.53228	AAA		0.483	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1		NM_152270	
SP4	6671	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	21469100	21469100	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:21469100C>T	ENST00000222584.3	+	3	535	c.317C>T	c.(316-318)gCc>gTc	p.A106V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	106					regulation of heart contraction (GO:0008016)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.A106V(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						CAACTTGTTGCCTCCACTCCT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											102.0	86.0	92.0					7																	21469100		2203	4300	6503	SO:0001583	missense	6671				CCDS5373.1	7p15	2013-01-08			ENSG00000105866	ENSG00000105866		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11209	protein-coding gene	gene with protein product		600540				1454515	Standard	XM_005249828		Approved	SPR-1, HF1B, MGC130008, MGC130009	uc003sva.3	Q02446	OTTHUMG00000094801	ENST00000222584.3:c.317C>T	7.37:g.21469100C>T	ENSP00000222584:p.Ala106Val	Somatic		WXS	Illumina HiSeq	Phase_I	O60402|Q32M52	Missense_Mutation	SNP	ENST00000222584.3	37	CCDS5373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.50|15.50	2.850554|2.850554	0.51270|0.51270	.|.	.|.	ENSG00000105866|ENSG00000105866	ENST00000222584|ENST00000446800	T|.	0.09445|.	2.98|.	4.46|4.46	4.46|4.46	0.54185|0.54185	.|.	0.110120|.	0.64402|.	D|.	0.000007|.	T|T	0.63663|0.63663	0.2530|0.2530	L|L	0.40543|0.40543	1.245|1.245	0.53688|0.53688	D|D	0.999977|0.999977	B|.	0.19583|.	0.037|.	B|.	0.18871|.	0.023|.	T|T	0.68465|0.68465	-0.5401|-0.5401	10|6	0.66056|0.87932	D|D	0.02|0	.|.	17.3279|17.3279	0.87255|0.87255	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	106|.	Q02446|.	SP4_HUMAN|.	V|S	106|83	ENSP00000222584:A106V|.	ENSP00000222584:A106V|ENSP00000402421:P83S	A|P	+|+	2|1	0|0	SP4|SP4	21435625|21435625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.110000|7.110000	0.77069|0.77069	2.308000|2.308000	0.77769|0.77769	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.438	SP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211617.2		NM_003112	
SPHK2	56848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	49129392	49129392	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:49129392C>T	ENST00000245222.4	+	3	650	c.284C>T	c.(283-285)gCc>gTc	p.A95V	SPHK2_ENST00000599029.1_Missense_Mutation_p.A59V|AC022154.7_ENST00000594850.1_RNA|SPHK2_ENST00000598088.1_Missense_Mutation_p.A95V|SPHK2_ENST00000599748.1_Missense_Mutation_p.A59V|SPHK2_ENST00000443164.1_Missense_Mutation_p.A157V|SPHK2_ENST00000599033.1_3'UTR|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000600537.1_Missense_Mutation_p.A36V|SPHK2_ENST00000340932.3_Missense_Mutation_p.A59V|SPHK2_ENST00000601712.1_Missense_Mutation_p.A59V|AC022154.7_ENST00000600303.1_RNA	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	95	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)	p.A95V(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		GTCCCGTTGGCCGAGGTCTCA	0.701																																																	1	Substitution - Missense(1)	kidney(1)											20.0	24.0	22.0					19																	49129392		2198	4292	6490	SO:0001583	missense	56848			AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.284C>T	19.37:g.49129392C>T	ENSP00000245222:p.Ala95Val	Somatic		WXS	Illumina HiSeq	Phase_I	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	37	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.015275	0.35511	.	.	ENSG00000063176	ENST00000245222;ENST00000340932;ENST00000443164	T;T;T	0.25579	2.15;1.86;1.79	3.98	2.9	0.33743	.	0.617003	0.15137	N	0.278515	T	0.14184	0.0343	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B	0.25955	0.003;0.068;0.138;0.009	B;B;B;B	0.23852	0.002;0.014;0.049;0.006	T	0.21552	-1.0242	10	0.26408	T	0.33	-27.0248	6.6161	0.22778	0.215:0.5938:0.1913:0.0	.	36;157;59;95	B4DU87;A0T4C8;Q9NRA0-3;Q9NRA0	.;.;.;SPHK2_HUMAN	V	95;59;157	ENSP00000245222:A95V;ENSP00000341091:A59V;ENSP00000413369:A157V	ENSP00000245222:A95V	A	+	2	0	SPHK2	53821204	0.001000	0.12720	0.783000	0.31826	0.980000	0.70556	0.626000	0.24492	0.957000	0.37930	0.557000	0.71058	GCC		0.701	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1			
SYT10	341359	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	33579108	33579108	+	Silent	SNP	C	C	T	rs111713819		TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr12:33579108C>T	ENST00000228567.3	-	2	770	c.474G>A	c.(472-474)gtG>gtA	p.V158V	SYT10_ENST00000567656.1_5'Flank|SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	158					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.V158V(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TTTGTCTTTGCACACGTGCAT	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											187.0	194.0	192.0					12																	33579108		2203	4300	6503	SO:0001819	synonymous_variant	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.474G>A	12.37:g.33579108C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q495U2	Silent	SNP	ENST00000228567.3	37	CCDS8732.1																																																																																				0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1		NM_198992	
SYT3	84258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	51140596	51140596	+	Silent	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:51140596G>T	ENST00000338916.4	-	1	706	c.73C>A	c.(73-75)Cga>Aga	p.R25R	SYT3_ENST00000593901.1_Silent_p.R25R|SYT3_ENST00000544769.1_Silent_p.R25R|SYT3_ENST00000600079.1_Silent_p.R25R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	25					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.R25R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TCAGCATCTCGGACCCGCGCA	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											56.0	53.0	54.0					19																	51140596		2203	4300	6503	SO:0001819	synonymous_variant	84258			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.73C>A	19.37:g.51140596G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	CCDS12798.1																																																																																				0.632	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1		NM_032298	
SYT5	6861	broad.mit.edu	37	19	55686593	55686593	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:55686593G>T	ENST00000354308.3	-	6	1024	c.655C>A	c.(655-657)Ctg>Atg	p.L219M	SYT5_ENST00000537500.1_Missense_Mutation_p.L219M|SYT5_ENST00000592935.1_5'Flank|SYT5_ENST00000590851.1_Missense_Mutation_p.L216M|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	219					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.L219M(1)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GGCCGCCCCAGGTCCACGGAG	0.726																																																	1	Substitution - Missense(1)	kidney(1)											24.0	23.0	24.0					19																	55686593		2200	4296	6496	SO:0001583	missense	6861			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.655C>A	19.37:g.55686593G>T	ENSP00000346265:p.Leu219Met	Somatic		WXS	Illumina GAIIx	Phase_I	B3KWJ8|B7Z300|Q86X72	Missense_Mutation	SNP	ENST00000354308.3	37	CCDS12919.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277513	0.80580	.	.	ENSG00000129990	ENST00000537500;ENST00000354308;ENST00000543844	T;T	0.09630	2.96;2.96	4.34	-2.91	0.05631	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000001	T	0.38427	0.1040	H	0.95043	3.615	0.40639	D	0.981928	P;D;D	0.65815	0.895;0.995;0.995	P;P;D	0.66084	0.641;0.804;0.941	T	0.58317	-0.7657	10	0.87932	D	0	.	14.1687	0.65495	0.2252:0.0:0.7748:0.0	.	216;219;219	B7Z300;Q4FD32;O00445	.;.;SYT5_HUMAN	M	219;219;216	ENSP00000442896:L219M;ENSP00000346265:L219M	ENSP00000346265:L219M	L	-	1	2	SYT5	60378405	1.000000	0.71417	0.985000	0.45067	0.981000	0.71138	0.552000	0.23376	-0.558000	0.06118	-0.300000	0.09419	CTG		0.726	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1		NM_003180	
TAF1A	9015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	222743918	222743918	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:222743918T>C	ENST00000352967.4	-	6	882	c.694A>G	c.(694-696)Att>Gtt	p.I232V	TAF1A_ENST00000391882.1_Missense_Mutation_p.I118V|TAF1A_ENST00000366890.1_Missense_Mutation_p.I118V|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000350027.4_Missense_Mutation_p.I232V|TAF1A_ENST00000543857.1_Missense_Mutation_p.I232V	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	232					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)	p.I232V(1)		kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ACTCCAGGAATTTTAATCAAT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											85.0	89.0	88.0					1																	222743918		2203	4300	6503	SO:0001583	missense	9015			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.694A>G	1.37:g.222743918T>C	ENSP00000327072:p.Ile232Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDZ8|D3DTB7|Q9NWA1	Missense_Mutation	SNP	ENST00000352967.4	37	CCDS1531.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.028315	0.35797	.	.	ENSG00000143498	ENST00000366890;ENST00000350027;ENST00000352967;ENST00000391882;ENST00000433270;ENST00000391883;ENST00000543857	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.6	5.6	0.85130	.	0.413821	0.28488	N	0.015166	T	0.44644	0.1303	M	0.68952	2.095	0.22378	N	0.999154	B;B	0.33171	0.4;0.081	B;B	0.31101	0.124;0.08	T	0.48927	-0.8991	10	0.48119	T	0.1	.	10.0848	0.42412	0.1499:0.0:0.0:0.8501	.	232;232	B4DS21;Q15573	.;TAF1A_HUMAN	V	118;232;232;118;194;194;232	ENSP00000355856:I118V;ENSP00000339976:I232V;ENSP00000327072:I232V;ENSP00000375754:I118V;ENSP00000375755:I194V;ENSP00000437725:I232V	ENSP00000339976:I232V	I	-	1	0	TAF1A	220810541	1.000000	0.71417	0.971000	0.41717	0.948000	0.59901	3.226000	0.51254	2.131000	0.65755	0.533000	0.62120	ATT		0.353	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091493.2		NM_005681	
TAX1BP1	8887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	27868314	27868314	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:27868314T>A	ENST00000396319.2	+	17	2324	c.2236T>A	c.(2236-2238)Ttt>Att	p.F746I	TAX1BP1_ENST00000265393.6_Missense_Mutation_p.F704I|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.F770I|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.F704I|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.F547I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	746					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)	p.F746I(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TCAGAGCAAATTTGAAGAACA	0.428																																																	1	Substitution - Missense(1)	kidney(1)											138.0	128.0	131.0					7																	27868314		2203	4300	6503	SO:0001583	missense	8887			U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.2236T>A	7.37:g.27868314T>A	ENSP00000379612:p.Phe746Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	ENST00000396319.2	37	CCDS5415.1	.	.	.	.	.	.	.	.	.	.	T	35	5.497394	0.96355	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319;ENST00000457186	T;T;T;T;T	0.59906	2.28;2.28;2.33;0.23;2.16	6.16	6.16	0.99307	Zinc finger, C2H2-like (1);	0.000000	0.56097	D	0.000040	T	0.75946	0.3919	M	0.69823	2.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	T	0.77278	-0.2647	10	0.59425	D	0.04	-16.7129	16.8061	0.85666	0.0:0.0:0.0:1.0	.	547;746;704	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	I	704;704;770;547;746;283	ENSP00000444811:F704I;ENSP00000265393:F704I;ENSP00000386515:F770I;ENSP00000391907:F547I;ENSP00000379612:F746I	ENSP00000265393:F704I	F	+	1	0	TAX1BP1	27834839	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.993000	0.88291	2.367000	0.80283	0.528000	0.53228	TTT		0.428	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1		NM_006024	
TBL1XR1	79718	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	176768295	176768295	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr3:176768295C>A	ENST00000430069.1	-	6	790	c.531G>T	c.(529-531)tgG>tgT	p.W177C	TBL1XR1-AS1_ENST00000454723.2_RNA|TBL1XR1_ENST00000457928.2_Missense_Mutation_p.W177C			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	177					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)	p.W177C(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TAACAGGGTTCCAGGCACAGA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											77.0	74.0	75.0					3																	176768295		1894	4109	6003	SO:0001583	missense	79718			AK022956	CCDS46961.1	3q26.33	2013-01-10	2008-01-17		ENSG00000177565	ENSG00000177565		"""WD repeat domain containing"""	29529	protein-coding gene	gene with protein product		608628	"""transducin (beta)-like 1X-linked receptor 1"""			11063877, 11931768	Standard	NM_024665		Approved	IRA1, FLJ12894, TBLR1, C21, DC42	uc003fix.4	Q9BZK7	OTTHUMG00000157140	ENST00000430069.1:c.531G>T	3.37:g.176768295C>A	ENSP00000405574:p.Trp177Cys	Somatic		WXS	Illumina HiSeq	Phase_I	D3DNQ9|Q14DC3|Q9H2I1|Q9H9A1	Missense_Mutation	SNP	ENST00000430069.1	37	CCDS46961.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.756483	0.89843	.	.	ENSG00000177565	ENST00000430069;ENST00000457928	T;T	0.66280	-0.2;-0.2	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.061047	0.64402	D	0.000001	T	0.77592	0.4153	L	0.58583	1.82	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78568	-0.2154	10	0.87932	D	0	-9.6084	18.8249	0.92114	0.0:1.0:0.0:0.0	.	177	Q9BZK7	TBL1R_HUMAN	C	177	ENSP00000405574:W177C;ENSP00000413251:W177C	ENSP00000405574:W177C	W	-	3	0	TBL1XR1	178250989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.683000	0.84093	2.770000	0.95276	0.655000	0.94253	TGG		0.363	TBL1XR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347587.3		NM_024665	
TCF20	6942	broad.mit.edu;ucsc.edu	37	22	42607966	42607966	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr22:42607966G>T	ENST00000359486.3	-	1	3482	c.3346C>A	c.(3346-3348)Cag>Aag	p.Q1116K	TCF20_ENST00000404876.1_5'Flank|TCF20_ENST00000335626.4_Missense_Mutation_p.Q1116K	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1116					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.Q1116K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGCCCCTCCTGCCTGTGCTGT	0.512																																																	1	Substitution - Missense(1)	kidney(1)											81.0	80.0	80.0					22																	42607966		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3346C>A	22.37:g.42607966G>T	ENSP00000352463:p.Gln1116Lys	Somatic		WXS	Illumina GAIIx	Phase_I	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	ENST00000359486.3	37	CCDS14033.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719976	0.68844	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.60797	0.16;0.16	5.91	5.91	0.95273	.	0.098075	0.44688	D	0.000421	T	0.49677	0.1571	N	0.19112	0.55	0.80722	D	1	B;B	0.30605	0.287;0.189	B;B	0.33620	0.167;0.081	T	0.47787	-0.9090	10	0.51188	T	0.08	-13.351	20.2983	0.98569	0.0:0.0:1.0:0.0	.	1116;1116	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	K	1116	ENSP00000352463:Q1116K;ENSP00000335561:Q1116K	ENSP00000335561:Q1116K	Q	-	1	0	TCF20	40937910	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.716000	0.74702	2.802000	0.96397	0.655000	0.94253	CAG		0.512	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1		NM_181492	
NDC1	55706	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54262374	54262374	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:54262374A>C	ENST00000371429.3	-	13	2170	c.1572T>G	c.(1570-1572)aaT>aaG	p.N524K	NDC1_ENST00000540001.1_Intron|NDC1_ENST00000537333.1_Missense_Mutation_p.N189K|NDC1_ENST00000234725.8_Missense_Mutation_p.N409K	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3	Q9BTX1	NDC1_HUMAN	NDC1 transmembrane nucleoporin	524					mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore distribution (GO:0031081)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)|synapsis (GO:0007129)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.N524K(1)									GTTCACGTTTATTCTGAATCC	0.348																																																	1	Substitution - Missense(1)	kidney(1)											101.0	93.0	95.0					1																	54262374		2203	4300	6503	SO:0001583	missense	55706			AL354613	CCDS583.1	1p32.3	2014-01-28	2013-05-23	2013-05-23	ENSG00000058804	ENSG00000058804			25525	protein-coding gene	gene with protein product	"""nuclear division cycle 1 homolog (S. cerevisiae)"""	610115	"""transmembrane protein 48"""	TMEM48		16779818, 12958361	Standard	NR_033142		Approved	FLJ10407, NET3		Q9BTX1	OTTHUMG00000008073	ENST00000371429.3:c.1572T>G	1.37:g.54262374A>C	ENSP00000360483:p.Asn524Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DHA3|B4DQQ5|G3XA81|Q8NB76|Q9H9T6|Q9NSG3|Q9NSG4|Q9NVZ7	Missense_Mutation	SNP	ENST00000371429.3	37	CCDS583.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692479	0.68271	.	.	ENSG00000058804	ENST00000371429;ENST00000360494;ENST00000537333;ENST00000234725	T;T;T	0.40225	1.04;1.04;1.04	5.01	3.88	0.44766	.	0.325460	0.39475	N	0.001358	T	0.46889	0.1416	L	0.51422	1.61	0.80722	D	1	D;D	0.67145	0.996;0.993	D;P	0.63192	0.912;0.886	T	0.45264	-0.9273	10	0.13853	T	0.58	.	5.9936	0.19480	0.7305:0.0:0.2695:0.0	.	484;524	B4DHA3;Q9BTX1	.;NDC1_HUMAN	K	524;407;189;409	ENSP00000360483:N524K;ENSP00000439947:N189K;ENSP00000234725:N409K	ENSP00000234725:N409K	N	-	3	2	TMEM48	54034962	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.121000	0.31283	0.944000	0.37579	0.456000	0.33151	AAT		0.348	NDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022101.1		NM_018087	
TNR	7143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	175299227	175299227	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:175299227C>A	ENST00000367674.2	-	21	4484	c.3776G>T	c.(3775-3777)aGc>aTc	p.S1259I	TNR_ENST00000263525.2_Missense_Mutation_p.S1259I|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1259	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.S1259I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GCCGTTGTAGCTTCCTATGCG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											97.0	79.0	85.0					1																	175299227		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3776G>T	1.37:g.175299227C>A	ENSP00000356646:p.Ser1259Ile	Somatic		WXS	Illumina HiSeq	Phase_I	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	8.062	0.768238	0.15983	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.77358	-1.09;-1.09	5.64	-6.85	0.01681	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	1.438520	0.03958	N	0.289568	T	0.68632	0.3022	L	0.58354	1.805	0.18873	N	0.999988	B	0.23540	0.087	B	0.26770	0.073	T	0.57370	-0.7823	10	0.72032	D	0.01	.	2.4748	0.04573	0.3045:0.1108:0.405:0.1797	.	1259	Q92752	TENR_HUMAN	I	1259;1259;1169	ENSP00000356646:S1259I;ENSP00000263525:S1259I	ENSP00000263525:S1259I	S	-	2	0	TNR	173565850	0.183000	0.23186	0.001000	0.08648	0.008000	0.06430	0.556000	0.23438	-0.827000	0.04278	-1.710000	0.00715	AGC		0.597	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285	
TOM1	10043	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	35719146	35719146	+	Silent	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr22:35719146T>C	ENST00000449058.2	+	4	467	c.342T>C	c.(340-342)caT>caC	p.H114H	TOM1_ENST00000425375.1_Silent_p.H114H|TOM1_ENST00000447733.1_Silent_p.H81H|TOM1_ENST00000382034.5_Silent_p.H47H|TOM1_ENST00000436462.2_Silent_p.H76H|TOM1_ENST00000411850.1_Silent_p.H114H	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	114	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)	p.H114H(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCATCGTGCATGACAAAGTGC	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											128.0	76.0	94.0					22																	35719146		2203	4300	6503	SO:0001819	synonymous_variant	10043			AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.342T>C	22.37:g.35719146T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Silent	SNP	ENST00000449058.2	37	CCDS13913.1																																																																																				0.622	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1		NM_005488	
TNRC6B	23112	broad.mit.edu	37	22	40662297	40662297	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr22:40662297A>C	ENST00000454349.2	+	5	2274	c.2063A>C	c.(2062-2064)gAg>gCg	p.E688A	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.E688A|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	688	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GCCTCTACAGAGTGGAAAGAC	0.537																																																	0													21.0	23.0	22.0					22																	40662297		1876	4134	6010	SO:0001583	missense	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2063A>C	22.37:g.40662297A>C	ENSP00000401946:p.Glu688Ala	Somatic		WXS	Illumina GAIIx	Phase_I	B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	ENST00000454349.2	37	CCDS54533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.595|8.595	0.885598|0.885598	0.17540|0.17540	.|.	.|.	ENSG00000100354|ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727|ENST00000446273	T;T|.	0.12361|.	2.69;2.7|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.157497|.	0.56097|.	D|.	0.000036|.	T|T	0.57080|0.57080	0.2029|0.2029	L|L	0.34521|0.34521	1.04|1.04	0.44523|0.44523	D|D	0.997472|0.997472	D;P;D|.	0.58268|.	0.982;0.956;0.974|.	D;P;D|.	0.67725|.	0.952;0.899;0.953|.	T|T	0.54002|0.54002	-0.8358|-0.8358	10|5	0.09338|.	T|.	0.73|.	-9.3924|-9.3924	15.4632|15.4632	0.75377|0.75377	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	688;688;688|.	Q9UPQ9;A8MYY3;Q9UPQ9-1|.	TNR6B_HUMAN;.;.|.	A|R	688|431	ENSP00000401946:E688A;ENSP00000338371:E688A|.	ENSP00000338371:E688A|.	E|S	+|+	2|1	0|0	TNRC6B|TNRC6B	38992243|38992243	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	3.634000|3.634000	0.54302|0.54302	2.069000|2.069000	0.61940|0.61940	0.260000|0.260000	0.18958|0.18958	GAG|AGT		0.537	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	protein_coding				
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179466064	179466064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:179466064G>A	ENST00000591111.1	-	237	50961	c.50737C>T	c.(50737-50739)Cga>Tga	p.R16913*	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.R18554*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R15986*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.R9489*|TTN_ENST00000359218.5_Nonsense_Mutation_p.R9614*|TTN_ENST00000342175.6_Nonsense_Mutation_p.R9681*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16913	Fibronectin type-III 22. {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.R15986*(4)|p.R9489*(2)|p.R9614*(2)|p.R9681*(2)		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)			TTTTCTGCTCGCACACGGAAG	0.428																																																	10	Substitution - Nonsense(10)	endometrium(5)|kidney(5)											102.0	97.0	98.0					2																	179466064		1904	4119	6023	SO:0001587	stop_gained	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.50737C>T	2.37:g.179466064G>A	ENSP00000465570:p.Arg16913*	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	Nonsense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	60	45.728998	0.99987	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.85	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	13.8973	0.63781	0.0:0.0:0.5991:0.4009	.	.	.	.	X	15986;9489;9681;9614;9489	.	ENSP00000340554:R9681X	R	-	1	2	TTN	179174309	0.993000	0.37304	0.993000	0.49108	0.985000	0.73830	2.179000	0.42528	0.772000	0.33382	-0.309000	0.09137	CGA		0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179571302	179571302	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:179571302C>A	ENST00000591111.1	-	100	28572	c.28348G>T	c.(28348-28350)Ggg>Tgg	p.G9450W	TTN_ENST00000589042.1_Missense_Mutation_p.G9767W|TTN_ENST00000342992.6_Missense_Mutation_p.G8523W|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	13546	Ig-like 77.				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.G8523W(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)			CGGTATAACCCAGAATCAGTT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											184.0	176.0	179.0					2																	179571302		1915	4135	6050	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.28348G>T	2.37:g.179571302C>A	ENSP00000465570:p.Gly9450Trp	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	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	12.16	1.853908	0.32791	.	.	ENSG00000155657	ENST00000342992	T	0.77877	-1.13	5.92	5.92	0.95590	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.93077	0.7796	H	0.97635	4.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94705	0.7887	9	0.87932	D	0	.	20.3129	0.98645	0.0:1.0:0.0:0.0	.	9450	Q8WZ42	TITIN_HUMAN	W	8523	ENSP00000343764:G8523W	ENSP00000343764:G8523W	G	-	1	0	TTN	179279547	1.000000	0.71417	0.990000	0.47175	0.037000	0.13140	7.818000	0.86416	2.800000	0.96347	0.650000	0.86243	GGG		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TUBG1	7283	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40764111	40764111	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr17:40764111G>A	ENST00000251413.3	+	4	411	c.349G>A	c.(349-351)Gac>Aac	p.D117N	FAM134C_ENST00000543197.1_5'Flank|FAM134C_ENST00000309428.5_5'Flank|FAM134C_ENST00000585894.1_5'Flank	NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	117					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.D117N(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GATCCATGAGGACATTTTTGA	0.522																																					Colon(20;114 698 11420 22864)												1	Substitution - Missense(1)	kidney(1)											103.0	92.0	96.0					17																	40764111		2203	4300	6503	SO:0001583	missense	7283			BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.349G>A	17.37:g.40764111G>A	ENSP00000251413:p.Asp117Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q53X79|Q9BW59	Missense_Mutation	SNP	ENST00000251413.3	37	CCDS11433.1	.	.	.	.	.	.	.	.	.	.	G	15.44	2.833943	0.50951	.	.	ENSG00000131462	ENST00000251413	T	0.69926	-0.44	5.37	5.37	0.77165	Tubulin/FtsZ, GTPase domain (4);	0.138996	0.45606	U	0.000344	T	0.60104	0.2243	L	0.39898	1.24	0.80722	D	1	B	0.33857	0.429	B	0.29176	0.099	T	0.64437	-0.6408	10	0.87932	D	0	-14.4445	18.7557	0.91832	0.0:0.0:1.0:0.0	.	117	P23258	TBG1_HUMAN	N	117	ENSP00000251413:D117N	ENSP00000251413:D117N	D	+	1	0	TUBG1	38017637	1.000000	0.71417	0.999000	0.59377	0.070000	0.16714	9.729000	0.98795	2.519000	0.84933	0.467000	0.42956	GAC		0.522	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450548.1		NM_001070	
UBE3B	89910	broad.mit.edu;hgsc.bcm.edu	37	12	109935725	109935725	+	Silent	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr12:109935725T>C	ENST00000342494.3	+	10	1411	c.816T>C	c.(814-816)ccT>ccC	p.P272P	UBE3B_ENST00000434735.2_Silent_p.P272P|UBE3B_ENST00000280774.5_Silent_p.P272P	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	272					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P272P(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CAGTGACCCCTGAGGTAAGCA	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											161.0	132.0	142.0					12																	109935725		2203	4300	6503	SO:0001819	synonymous_variant	89910			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.816T>C	12.37:g.109935725T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Silent	SNP	ENST00000342494.3	37	CCDS9129.1																																																																																				0.458	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1		NM_183415	
Unknown	0	broad.mit.edu	37	21	9766012	9766013	+	IGR	INS	-	-	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr21:9766012_9766013insA								CR381670.1 (82740 upstream) : MIR3648 (59818 downstream)																							ACAACTATCAGAAAATGTATGT	0.277																																																	0																																										SO:0001628	intergenic_variant	0																															21.37:g.9766016_9766016dupA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	INS		37																																																																																				0	0.277									
WASL	8976	broad.mit.edu;ucsc.edu	37	7	123329154	123329154	+	Silent	SNP	T	T	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr7:123329154T>C	ENST00000223023.4	-	10	1730	c.1398A>G	c.(1396-1398)ggA>ggG	p.G466G		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	466					actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)	p.G466G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACCCACAATTCCTGAAGTGG	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											177.0	182.0	180.0					7																	123329154		2203	4300	6503	SO:0001819	synonymous_variant	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1398A>G	7.37:g.123329154T>C		Somatic		WXS	Illumina GAIIx	Phase_I	A1JUI9|Q7Z746	Silent	SNP	ENST00000223023.4	37	CCDS34743.1																																																																																				0.443	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1		NM_003941	
WHSC1L1	54904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38189086	38189086	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr8:38189086C>A	ENST00000317025.8	-	5	1445	c.928G>T	c.(928-930)Gtc>Ttc	p.V310F	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.V310F|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.V310F|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.V310F	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	310	PWWP 1. {ECO:0000255|PROSITE- ProRule:PRU00162}.				histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.V310F(2)		NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AAAAACTGGACATGATATTCT	0.403			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	2	Substitution - Missense(2)	kidney(2)											68.0	66.0	66.0					8																	38189086		2203	4300	6503	SO:0001583	missense	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.928G>T	8.37:g.38189086C>A	ENSP00000313983:p.Val310Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467639	0.84533	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	4.58	4.58	0.56647	PWWP (3);	0.000000	0.40469	U	0.001086	D	0.95043	0.8395	M	0.92604	3.325	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.96461	0.9341	10	0.87932	D	0	.	17.4047	0.87470	0.0:1.0:0.0:0.0	.	310;310;310;310	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	F	310;310;247;310;310	ENSP00000393284:V310F;ENSP00000313983:V310F;ENSP00000434730:V310F;ENSP00000313410:V310F	ENSP00000313410:V310F	V	-	1	0	WHSC1L1	38308243	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.118000	0.77137	2.082000	0.62665	0.563000	0.77884	GTC		0.403	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3		NM_023034	
XIRP2	129446	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	168104032	168104032	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr2:168104032A>G	ENST00000409195.1	+	9	6219	c.6130A>G	c.(6130-6132)Aga>Gga	p.R2044G	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1822G|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R2044G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1869					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.R2044G(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAAAAGCCTTAGAAGACTATC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											72.0	67.0	68.0					2																	168104032		1849	4090	5939	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.6130A>G	2.37:g.168104032A>G	ENSP00000386840:p.Arg2044Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	15.48	2.846026	0.51164	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.23147	1.92;1.92;1.92	5.73	4.52	0.55395	.	0.419180	0.26349	N	0.024895	T	0.45418	0.1341	M	0.65975	2.015	0.29502	N	0.854863	D;D;D	0.76494	0.958;0.986;0.999	P;P;D	0.63283	0.477;0.797;0.913	T	0.44817	-0.9303	10	0.62326	D	0.03	-18.5172	13.3394	0.60537	0.8601:0.1399:0.0:0.0	.	1869;1869;1822	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	G	2044;2044;1822	ENSP00000386840:R2044G;ENSP00000295237:R2044G;ENSP00000387255:R1822G	ENSP00000295237:R2044G	R	+	1	2	XIRP2	167812278	0.897000	0.30589	0.998000	0.56505	0.980000	0.70556	2.541000	0.45735	2.195000	0.70347	0.528000	0.53228	AGA		0.393	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381	
ZMPSTE24	10269	hgsc.bcm.edu;ucsc.edu	37	1	40756542	40756543	+	Frame_Shift_Ins	INS	-	-	T	rs553349565|rs137854889		TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:40756542_40756543insT	ENST00000372759.3	+	9	1241_1242	c.1076_1077insT	c.(1075-1080)tgttttfs	p.CF359fs		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	359					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTTTCCTGTGTTTTTTTTTAT	0.332																																																	0										1,4261		0,1,2130				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.3	1.0		dbSNP_133	135	3,8249		0,3,4123	no	frameshift	ZMPSTE24	NM_005857.3		0,4,6253	A1A1,A1R,RR		0.0364,0.0235,0.032				4,12510				SO:0001589	frameshift_variant	10269			Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.1085dupT	1.37:g.40756551_40756551dupT	ENSP00000361845:p.Cys359fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Frame_Shift_Ins	INS	ENST00000372759.3	37	CCDS449.1																																																																																				0.332	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			
ZNF284	342909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44589959	44589959	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:44589959G>A	ENST00000421176.3	+	5	544	c.328G>A	c.(328-330)Gag>Aag	p.E110K	RNU6-902P_ENST00000517212.1_RNA|ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E110K(1)		NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AACTGCAAGTGAGTTAACTAG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											100.0	97.0	98.0					19																	44589959		2203	4300	6503	SO:0001583	missense	342909			AY166789	CCDS46099.1	19q13.32	2013-01-08				ENSG00000186026		"""Zinc fingers, C2H2-type"", ""-"""	13078	protein-coding gene	gene with protein product						12743021	Standard	NM_001037813		Approved	DKFZp781F1775	uc002oyg.1	Q2VY69		ENST00000421176.3:c.328G>A	19.37:g.44589959G>A	ENSP00000411032:p.Glu110Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q86WM1	Missense_Mutation	SNP	ENST00000421176.3	37	CCDS46099.1	.	.	.	.	.	.	.	.	.	.	G	5.929	0.355386	0.11239	.	.	ENSG00000186026	ENST00000421176	T	0.04706	3.57	1.94	-0.492	0.12041	.	.	.	.	.	T	0.02156	0.0067	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.20184	0.028	T	0.47611	-0.9104	9	0.06757	T	0.87	.	2.5131	0.04661	0.1817:0.0:0.5337:0.2846	.	110	Q2VY69	ZN284_HUMAN	K	110	ENSP00000411032:E110K	ENSP00000411032:E110K	E	+	1	0	ZNF284	49281799	0.002000	0.14202	0.000000	0.03702	0.048000	0.14542	0.905000	0.28504	-0.046000	0.13446	-0.448000	0.05591	GAG		0.468	ZNF284-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460473.1		NM_001037813	
ZNF234	10780	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	44661744	44661744	+	Silent	SNP	G	G	A	rs186620429	byFrequency	TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:44661744G>A	ENST00000426739.2	+	6	1833	c.1575G>A	c.(1573-1575)tcG>tcA	p.S525S	ZNF234_ENST00000592437.1_Silent_p.S525S	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	525					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S525S(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GTCAGGCCTCGCATCTTCTAA	0.458													G|||	8	0.00159744	0.0045	0.0014	5008	,	,		20915	0.0		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						G	,	6,4358	12.9+/-30.5	0,6,2176	84.0	91.0	89.0		1575,1575	-1.1	0.0	19		89	14,8562	9.8+/-36.6	0,14,4274	no	coding-synonymous,coding-synonymous	ZNF234	NM_001144824.1,NM_006630.2	,	0,20,6450	AA,AG,GG		0.1632,0.1375,0.1546	,	525/701,525/701	44661744	20,12920	2182	4288	6470	SO:0001819	synonymous_variant	10780			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.1575G>A	19.37:g.44661744G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Silent	SNP	ENST00000426739.2	37	CCDS46101.1																																																																																				0.458	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460586.2			
ZNF496	84838	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	247463962	247463962	+	Silent	SNP	G	G	C			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr1:247463962G>C	ENST00000294753.4	-	9	2087	c.1623C>G	c.(1621-1623)cgC>cgG	p.R541R	ZNF496_ENST00000366498.2_Silent_p.R577R|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	541					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R541R(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GAAAGTGGCTGCGGTGCCGAG	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											73.0	76.0	75.0					1																	247463962		2203	4300	6503	SO:0001819	synonymous_variant	84838			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1623C>G	1.37:g.247463962G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q8TBS2	Silent	SNP	ENST00000294753.4	37	CCDS1631.1																																																																																				0.622	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098655.2		NM_032752	
ZNF610	162963	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52869689	52869689	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr19:52869689T>A	ENST00000403906.3	+	6	1514	c.1058T>A	c.(1057-1059)tTt>tAt	p.F353Y	ZNF610_ENST00000321287.8_Missense_Mutation_p.F353Y|ZNF610_ENST00000601151.1_Missense_Mutation_p.F310Y|ZNF610_ENST00000327920.8_Missense_Mutation_p.F353Y	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	353					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F353Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GGCAAGGTCTTTAGTCTGCTT	0.428																																																	1	Substitution - Missense(1)	kidney(1)											88.0	90.0	89.0					19																	52869689		2203	4300	6503	SO:0001583	missense	162963			AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1058T>A	19.37:g.52869689T>A	ENSP00000383922:p.Phe353Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4C3|Q86YH8|Q8NDS9	Missense_Mutation	SNP	ENST00000403906.3	37	CCDS12851.1	.	.	.	.	.	.	.	.	.	.	T	13.17	2.155811	0.38021	.	.	ENSG00000167554	ENST00000403906;ENST00000321287;ENST00000327920	T;T	0.40476	1.03;1.03	1.58	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.61937	0.2387	M	0.81497	2.545	0.19775	N	0.999958	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	T	0.47262	-0.9131	9	0.72032	D	0.01	.	7.955	0.30038	0.0:0.0:0.0:1.0	.	310;353	Q8N9Z0-2;Q8N9Z0	.;ZN610_HUMAN	Y	353;310;353	ENSP00000383922:F353Y;ENSP00000327597:F353Y	ENSP00000324441:F310Y	F	+	2	0	ZNF610	57561501	0.966000	0.33281	0.193000	0.23327	0.269000	0.26545	2.029000	0.41098	0.695000	0.31675	0.260000	0.18958	TTT		0.428	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1		NM_173530	
ZUFSP	221302	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	116987929	116987929	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3357-01A-02D-1421-08	TCGA-A3-3357-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db6f5ad9-ae6e-4689-b146-f733f8352c54	48b92145-0704-4f2e-aebf-fcbff040dfe1	g.chr6:116987929T>G	ENST00000368576.3	-	2	670	c.427A>C	c.(427-429)Aaa>Caa	p.K143Q	ZUFSP_ENST00000368573.1_Missense_Mutation_p.K143Q|ZUFSP_ENST00000471919.1_5'UTR	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	143							metal ion binding (GO:0046872)	p.K143Q(1)		NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		ACAGATCCTTTTATTTCGGTC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											127.0	116.0	119.0					6																	116987929		2203	4300	6503	SO:0001583	missense	221302			AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.427A>C	6.37:g.116987929T>G	ENSP00000357565:p.Lys143Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	T	3.042	-0.197195	0.06259	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T	0.43294	0.95	5.96	4.79	0.61399	.	0.555457	0.21971	N	0.066453	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.33059	-0.9883	10	0.11485	T	0.65	-7.7028	10.009	0.41975	0.0:0.0:0.1774:0.8226	.	143	Q96AP4	ZUFSP_HUMAN	Q	143	ENSP00000357565:K143Q	ENSP00000357562:K143Q	K	-	1	0	ZUFSP	117094622	0.769000	0.28531	0.779000	0.31741	0.021000	0.10359	1.729000	0.38115	1.050000	0.40346	0.533000	0.62120	AAA		0.358	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1		NM_145062	
