#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
ABCA12	26154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	215838696	215838696	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:215838696A>C	ENST00000272895.7	-	36	5758	c.5539T>G	c.(5539-5541)Tgc>Ggc	p.C1847G	ABCA12_ENST00000389661.4_Missense_Mutation_p.C1529G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1847					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.C1847G(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGCAGGAGCAAACACCAAAA	0.388																																					Ovarian(66;664 1488 5121 34295)												1	Substitution - Missense(1)	kidney(1)											183.0	168.0	173.0					2																	215838696		2203	4300	6503	SO:0001583	missense	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5539T>G	2.37:g.215838696A>C	ENSP00000272895:p.Cys1847Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	15.72	2.915866	0.52546	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.95821	-3.82;-3.78	5.89	5.89	0.94794	.	0.716205	0.13578	N	0.377557	D	0.97654	0.9231	M	0.88105	2.93	0.80722	D	1	D;D	0.58620	0.983;0.958	P;P	0.58013	0.831;0.553	D	0.97572	1.0105	10	0.87932	D	0	.	14.8794	0.70519	1.0:0.0:0.0:0.0	.	1847;1529	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	G	1847;1529	ENSP00000272895:C1847G;ENSP00000374312:C1529G	ENSP00000272895:C1847G	C	-	1	0	ABCA12	215546941	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.909000	0.69923	2.250000	0.74265	0.455000	0.32223	TGC		0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1		NM_173076	
ABCA4	24	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	94466632	94466632	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:94466632C>A	ENST00000370225.3	-	46	6398	c.6312G>T	c.(6310-6312)caG>caT	p.Q2104H	ABCA4_ENST00000535881.1_Missense_Mutation_p.Q223H|ABCA4_ENST00000536513.1_Missense_Mutation_p.Q374H|ABCA4_ENST00000465352.1_5'Flank	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2104	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.Q2104H(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TGCGGCGTGCCTGGGGGTCCA	0.632																																																	1	Substitution - Missense(1)	kidney(1)											81.0	74.0	76.0					1																	94466632		2203	4300	6503	SO:0001583	missense	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6312G>T	1.37:g.94466632C>A	ENSP00000359245:p.Gln2104His	Somatic		WXS	Illumina HiSeq	Phase_I	O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526257	0.44969	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.95482	-3.72;-3.72;-3.72	6.08	5.17	0.71159	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.171258	0.52532	D	0.000066	D	0.88987	0.6587	L	0.35341	1.055	0.80722	D	1	B	0.10296	0.003	B	0.12156	0.007	D	0.86098	0.1554	10	0.54805	T	0.06	.	15.5081	0.75757	0.0:0.9339:0.0:0.0661	.	2104	P78363	ABCA4_HUMAN	H	896;2104;374;223	ENSP00000359245:Q2104H;ENSP00000439707:Q374H;ENSP00000443203:Q223H	ENSP00000359245:Q2104H	Q	-	3	2	ABCA4	94239220	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.808000	0.38912	1.584000	0.49913	0.655000	0.94253	CAG		0.632	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1		NM_000350	
ABCA4	24	broad.mit.edu;hgsc.bcm.edu	37	1	94568687	94568687	+	Nonsense_Mutation	SNP	G	G	A	rs62646861		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:94568687G>A	ENST00000370225.3	-	5	540	c.454C>T	c.(454-456)Cga>Tga	p.R152*	ABCA4_ENST00000535735.1_Nonsense_Mutation_p.R152*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	152			R -> Q (in dbSNP:rs62646862). {ECO:0000269|PubMed:10958763}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.R152*(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCCTTATTCGTATTCCTCTT	0.393																																																	1	Substitution - Nonsense(1)	kidney(1)	GRCh37	CM992297	ABCA4	M							211.0	203.0	206.0					1																	94568687		2203	4300	6503	SO:0001587	stop_gained	24			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.454C>T	1.37:g.94568687G>A	ENSP00000359245:p.Arg152*	Somatic		WXS	Illumina HiSeq	Phase_I	O15112|O60438|O60915|Q0QD48|Q4LE31	Nonsense_Mutation	SNP	ENST00000370225.3	37	CCDS747.1	.	.	.	.	.	.	.	.	.	.	G	34	5.361483	0.95877	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	.	.	.	5.27	5.27	0.74061	.	0.304771	0.30210	N	0.010147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	.	18.5239	0.90963	0.0:0.0:1.0:0.0	rs62646861	.	.	.	X	152	.	ENSP00000359245:R152X	R	-	1	2	ABCA4	94341275	0.997000	0.39634	0.989000	0.46669	0.379000	0.30106	2.975000	0.49281	2.465000	0.83290	0.655000	0.94253	CGA		0.393	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1		NM_000350	
ABHD12	26090	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	25282909	25282909	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr20:25282909A>C	ENST00000339157.5	-	12	1375	c.1103T>G	c.(1102-1104)cTt>cGt	p.L368R	ABHD12_ENST00000376542.3_Missense_Mutation_p.L368R	NM_001042472.2	NP_001035937.1	Q8N2K0	ABD12_HUMAN	abhydrolase domain containing 12	368					adult walking behavior (GO:0007628)|phosphatidylserine catabolic process (GO:0006660)|response to auditory stimulus (GO:0010996)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)	acylglycerol lipase activity (GO:0047372)	p.L368R(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						CCTGTAGCCAAGGTCTGAATG	0.542																																																	2	Substitution - Missense(2)	kidney(2)											140.0	124.0	130.0					20																	25282909		2203	4300	6503	SO:0001583	missense	26090			AL117442	CCDS13172.1, CCDS42857.1	20p11.21	2007-04-24	2006-03-10	2006-03-10	ENSG00000100997	ENSG00000100997		"""Abhydrolase domain containing"""	15868	protein-coding gene	gene with protein product		613599	"""chromosome 20 open reading frame 22"""	C20orf22			Standard	NM_015600		Approved	DKFZP434P106, dJ965G21.2, BEM46L2, ABHD12A	uc002wuq.3	Q8N2K0	OTTHUMG00000032121	ENST00000339157.5:c.1103T>G	20.37:g.25282909A>C	ENSP00000341408:p.Leu368Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NED4|A6NJ90|A8K450|B4DE71|Q5T710|Q5T711|Q96CR1|Q9BX05|Q9NPX7|Q9UFV6	Missense_Mutation	SNP	ENST00000339157.5	37	CCDS42857.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.861848	0.51482	.	.	ENSG00000100997	ENST00000376542;ENST00000339157;ENST00000526543	T;T	0.21543	2.11;2.0	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.35307	0.0927	L	0.39245	1.2	0.80722	D	1	P;D;D	0.89917	0.933;0.999;1.0	P;D;D	0.87578	0.512;0.996;0.998	T	0.03423	-1.1038	10	0.21014	T	0.42	-1.47	14.6085	0.68498	1.0:0.0:0.0:0.0	.	330;368;368	Q8N2K0-3;Q8N2K0;Q8N2K0-2	.;ABD12_HUMAN;.	R	368;368;330	ENSP00000365725:L368R;ENSP00000341408:L368R	ENSP00000341408:L368R	L	-	2	0	ABHD12	25230909	1.000000	0.71417	0.996000	0.52242	0.516000	0.34256	8.401000	0.90202	2.116000	0.64780	0.459000	0.35465	CTT		0.542	ABHD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078423.2		NM_015600	
ACSL1	2180	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	185694256	185694256	+	Silent	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr4:185694256T>C	ENST00000515030.1	-	10	1219	c.894A>G	c.(892-894)tcA>tcG	p.S298S	ACSL1_ENST00000507295.1_Silent_p.S264S|ACSL1_ENST00000504342.1_Silent_p.S298S|ACSL1_ENST00000281455.2_Silent_p.S298S|ACSL1_ENST00000454703.2_Silent_p.S127S|ACSL1_ENST00000504900.1_Silent_p.S298S|ACSL1_ENST00000513317.1_Silent_p.S298S|ACSL1_ENST00000437665.3_Silent_p.S127S			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	298					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.S298S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TCACAAAAGCTGAACAATCGC	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											126.0	114.0	118.0					4																	185694256		2203	4300	6503	SO:0001819	synonymous_variant	2180			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.894A>G	4.37:g.185694256T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Silent	SNP	ENST00000515030.1	37	CCDS3839.1	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415580	0.25552	.	.	ENSG00000151726	ENST00000505492	T	0.10860	2.83	5.82	-1.13	0.09775	.	0.124530	0.56097	D	0.000033	T	0.14056	0.0340	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.04427	-1.0952	7	0.41790	T	0.15	-15.8532	7.189	0.25814	0.0:0.31:0.1102:0.5798	.	.	.	.	G	46	ENSP00000425640:S46G	ENSP00000425640:S46G	S	-	1	0	ACSL1	185931250	1.000000	0.71417	0.994000	0.49952	0.940000	0.58332	0.546000	0.23284	-0.105000	0.12132	-0.361000	0.07541	AGC		0.433	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361112.2		NM_001995	
ADORA3	140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	112031474	112031474	+	Silent	SNP	G	G	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:112031474G>C	ENST00000369716.4	-	3	763	c.630C>G	c.(628-630)gcC>gcG	p.A210A	RNU6-792P_ENST00000363490.1_RNA|ADORA3_ENST00000369717.4_Silent_p.A129A	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)	p.A129A(1)|p.A210A(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TGTCCCTCAGGGCCACATGAT	0.552																																																	2	Substitution - coding silent(2)	kidney(2)											172.0	147.0	155.0					1																	112031474		2203	4300	6503	SO:0001819	synonymous_variant	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.630C>G	1.37:g.112031474G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A2A3P4|Q6UWU0|Q9BYZ1	Silent	SNP	ENST00000369716.4	37	CCDS838.1	.	.	.	.	.	.	.	.	.	.	G	7.722	0.697334	0.15106	.	.	ENSG00000121933	ENST00000414219;ENST00000442484	.	.	.	4.73	3.79	0.43588	.	.	.	.	.	T	0.47488	0.1448	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44003	-0.9356	4	.	.	.	-4.2322	9.0632	0.36447	0.1027:0.0:0.8973:0.0	.	.	.	.	R	70;23	.	.	P	-	2	0	ADORA3	111832997	0.994000	0.37717	0.955000	0.39395	0.722000	0.41435	1.538000	0.36094	2.443000	0.82685	0.462000	0.41574	CCC		0.552	ADORA3-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000157679.1		NM_000677, NM_020683	
AMN1	196394	hgsc.bcm.edu;ucsc.edu	37	12	31850290	31850290	+	Intron	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:31850290A>G	ENST00000281471.6	-	5	757				AMN1_ENST00000537562.1_Intron|AMN1_ENST00000541931.1_Intron|AMN1_ENST00000536761.1_Intron|AMN1_ENST00000542781.1_Intron	NM_001113402.1|NM_001278411.1|NM_001278412.1	NP_001106873.1|NP_001265340.1|NP_001265341.1	Q8IY45	AMN1_HUMAN	antagonist of mitotic exit network 1 homolog (S. cerevisiae)											breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			TTGTTTTAAAATTACCTCTAA	0.323																																																	0													81.0	72.0	75.0					12																	31850290		1799	4076	5875	SO:0001627	intron_variant	196394				CCDS44858.1, CCDS61089.1	12p11.21	2010-07-19			ENSG00000151743	ENSG00000151743			27281	protein-coding gene	gene with protein product							Standard	NM_001113402		Approved		uc001rkq.4	Q8IY45	OTTHUMG00000169192	ENST00000281471.6:c.591+4T>C	12.37:g.31850290A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z7J3|Q6NVU4|Q86X98	RNA	SNP	ENST00000281471.6	37	CCDS44858.1																																																																																				0.323	AMN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402807.2		NR_004854	
ANKRD55	79722	broad.mit.edu;ucsc.edu	37	5	55407454	55407454	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:55407454T>C	ENST00000341048.4	-	10	1272	c.1121A>G	c.(1120-1122)gAc>gGc	p.D374G	ANKRD55_ENST00000434982.2_Missense_Mutation_p.D86G|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.D331G	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	374								p.D374G(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TTCTGAGGTGTCCTCCTCTCT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											296.0	283.0	287.0					5																	55407454		2203	4300	6503	SO:0001583	missense	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1121A>G	5.37:g.55407454T>C	ENSP00000342295:p.Asp374Gly	Somatic		WXS	Illumina GAIIx	Phase_I	B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	CCDS34161.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	4.397|4.397	0.073365|0.073365	0.08485|0.08485	.|.	.|.	ENSG00000164512|ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982|ENST00000505970	T;T;T|.	0.38240|.	1.37;1.15;1.42|.	5.46|5.46	-1.42|-1.42	0.08913|0.08913	.|.	0.715259|.	0.13240|.	N|.	0.402940|.	T|T	0.09423|0.09423	0.0232|0.0232	N|N	0.03608|0.03608	-0.345|-0.345	0.22330|0.22330	N|N	0.999199|0.999199	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.30794|0.30794	-0.9966|-0.9966	10|6	0.25751|0.16420	T|T	0.34|0.52	.|.	2.9136|2.9136	0.05745|0.05745	0.1052:0.1857:0.1092:0.5998|0.1052:0.1857:0.1092:0.5998	.|.	374;373|.	B3KVT8;Q3KP44|.	.;ANR55_HUMAN|.	G|A	374;374;331;86|119	ENSP00000342295:D374G;ENSP00000424230:D331G;ENSP00000429421:D86G|.	ENSP00000342295:D374G|ENSP00000422370:T119A	D|T	-|-	2|1	0|0	ANKRD55|ANKRD55	55443211|55443211	0.988000|0.988000	0.35896|0.35896	0.118000|0.118000	0.21660|0.21660	0.125000|0.125000	0.20455|0.20455	2.391000|2.391000	0.44424|0.44424	-0.126000|-0.126000	0.11682|0.11682	-0.410000|-0.410000	0.06199|0.06199	GAC|ACA		0.478	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4		NM_024669	
ANKRD32	84250	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	93987546	93987546	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:93987546A>C	ENST00000265140.5	+	7	1297	c.878A>C	c.(877-879)aAt>aCt	p.N293T		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	293						centrosome (GO:0005813)|nucleus (GO:0005634)		p.N293T(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		ACATATGAAAATCAGGTACAA	0.219																																																	1	Substitution - Missense(1)	kidney(1)											37.0	30.0	32.0					5																	93987546		692	1580	2272	SO:0001583	missense	84250			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.878A>C	5.37:g.93987546A>C	ENSP00000265140:p.Asn293Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	A	6.807	0.517924	0.13005	.	.	ENSG00000133302	ENST00000265140	T	0.40225	1.04	3.78	-1.88	0.07713	.	0.797596	0.09828	N	0.750524	T	0.19525	0.0469	N	0.20530	0.585	0.20764	N	0.999856	B	0.02656	0.0	B	0.01281	0.0	T	0.22138	-1.0225	10	0.19590	T	0.45	.	0.7537	0.00995	0.382:0.1753:0.1028:0.3399	.	293	Q9BQI6	ANR32_HUMAN	T	293	ENSP00000265140:N293T	ENSP00000265140:N293T	N	+	2	0	ANKRD32	94013302	0.909000	0.30893	0.463000	0.27130	0.395000	0.30598	-0.008000	0.12788	-0.301000	0.08882	0.482000	0.46254	AAT		0.219	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1		NM_032290	
APC	324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	112176941	112176941	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:112176941G>T	ENST00000457016.1	+	16	6030	c.5650G>T	c.(5650-5652)Gca>Tca	p.A1884S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.A1884S|APC_ENST00000508376.2_Missense_Mutation_p.A1884S			P25054	APC_HUMAN	adenomatous polyposis coli	1884	Highly charged.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.K1192fs*3(1)|p.?(1)|p.A1884S(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		ATTAAGAAAGGCAAAAGAAAA	0.388		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	3	Substitution - Missense(1)|Unknown(1)|Deletion - Frameshift(1)	soft_tissue(1)|kidney(1)|skin(1)											83.0	81.0	82.0					5																	112176941		2202	4300	6502	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.5650G>T	5.37:g.112176941G>T	ENSP00000413133:p.Ala1884Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	12.42	1.932290	0.34096	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.88586	-2.4;-2.4;-2.4	6.07	6.07	0.98685	.	0.097389	0.64402	D	0.000001	T	0.80048	0.4552	N	0.08118	0	0.27186	N	0.960533	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.59648	-0.7415	9	.	.	.	-4.8616	20.6439	0.99570	0.0:0.0:1.0:0.0	.	1886;1884	Q4LE70;P25054	.;APC_HUMAN	S	1884	ENSP00000413133:A1884S;ENSP00000257430:A1884S;ENSP00000427089:A1884S	.	A	+	1	0	APC	112204840	1.000000	0.71417	0.978000	0.43139	0.961000	0.63080	9.230000	0.95299	2.890000	0.99128	0.650000	0.86243	GCA		0.388	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2		NM_000038	
ASB15	142685	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123267202	123267202	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:123267202G>T	ENST00000451558.1	+	11	1257	c.736G>T	c.(736-738)Gtg>Ttg	p.V246L	RP11-390E23.3_ENST00000451016.1_RNA|ASB15_ENST00000540573.1_Missense_Mutation_p.V246L|RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000418409.1_RNA|RP11-390E23.3_ENST00000429396.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000451215.1_Missense_Mutation_p.V246L|ASB15_ENST00000434204.1_Missense_Mutation_p.V246L|ASB15_ENST00000275699.3_Missense_Mutation_p.V246L			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	246					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.V246L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGGGGCGTCGGTGCTGTTTGA	0.498																																																	1	Substitution - Missense(1)	kidney(1)											181.0	143.0	156.0					7																	123267202		2203	4300	6503	SO:0001583	missense	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.736G>T	7.37:g.123267202G>T	ENSP00000397655:p.Val246Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q3ZCP3|Q3ZCP5|Q68D37	Missense_Mutation	SNP	ENST00000451558.1	37	CCDS34742.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.044018	0.36085	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000451215;ENST00000540573;ENST00000542545;ENST00000275699	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	5.57	4.67	0.58626	Ankyrin repeat-containing domain (4);	0.201156	0.33515	N	0.004825	T	0.45074	0.1324	N	0.17594	0.5	0.43160	D	0.994946	B	0.15141	0.012	B	0.23574	0.047	T	0.35919	-0.9769	10	0.39692	T	0.17	-11.5822	9.2746	0.37692	0.1147:0.1327:0.7526:0.0	.	246	Q8WXK1	ASB15_HUMAN	L	246;246;246;246;35;246	ENSP00000397655:V246L;ENSP00000390963:V246L;ENSP00000416433:V246L;ENSP00000438643:V246L;ENSP00000275699:V246L	ENSP00000275699:V246L	V	+	1	0	ASB15	123054438	0.891000	0.30450	0.032000	0.17829	0.373000	0.29922	1.308000	0.33528	1.310000	0.45006	0.557000	0.71058	GTG		0.498	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347493.1			
ASCC3	10973	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	101248212	101248212	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr6:101248212A>T	ENST00000369162.2	-	6	1435	c.1091T>A	c.(1090-1092)cTt>cAt	p.L364H	ASCC3_ENST00000522650.1_Missense_Mutation_p.L364H	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	364					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.L364H(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AAAGCACATAAGTCCTTCTGA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											157.0	151.0	153.0					6																	101248212		2203	4300	6503	SO:0001583	missense	10973			AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.1091T>A	6.37:g.101248212A>T	ENSP00000358159:p.Leu364His	Somatic		WXS	Illumina HiSeq	Phase_I	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	7.730	0.698994	0.15106	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.51071	0.72;0.72	5.41	4.25	0.50352	.	0.324485	0.29480	N	0.012039	T	0.16471	0.0396	L	0.36672	1.1	0.09310	N	0.999999	P;B	0.39131	0.661;0.232	B;B	0.40329	0.326;0.117	T	0.07539	-1.0767	10	0.25751	T	0.34	.	4.0987	0.10004	0.6741:0.1296:0.0715:0.1248	.	364;364	E7EW23;Q8N3C0	.;HELC1_HUMAN	H	364	ENSP00000358159:L364H;ENSP00000430769:L364H	ENSP00000358159:L364H	L	-	2	0	ASCC3	101354933	0.543000	0.26434	0.173000	0.22940	0.937000	0.57800	1.907000	0.39897	0.898000	0.36418	0.459000	0.35465	CTT		0.353	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2		NM_006828	
B3GNT2	10678	broad.mit.edu	37	2	62450343	62450343	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:62450343C>T	ENST00000301998.4	+	2	1240	c.988C>T	c.(988-990)Ccc>Tcc	p.P330S	B3GNT2_ENST00000405767.1_Missense_Mutation_p.P330S	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	330					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)	p.P330S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			CCATCTCTACCCCATTGATGA	0.527																																																	1	Substitution - Missense(1)	kidney(1)											58.0	58.0	58.0					2																	62450343		2203	4300	6503	SO:0001583	missense	10678			AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.988C>T	2.37:g.62450343C>T	ENSP00000305595:p.Pro330Ser	Somatic		WXS	Illumina GAIIx	Phase_I	Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464667	0.84425	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.41400	1.0;1.0	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.73291	-0.4029	10	0.54805	T	0.06	.	20.2789	0.98501	0.0:1.0:0.0:0.0	.	330	Q9NY97	B3GN2_HUMAN	S	330	ENSP00000305595:P330S;ENSP00000384692:P330S	ENSP00000305595:P330S	P	+	1	0	B3GNT2	62303847	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	7.818000	0.86416	2.788000	0.95919	0.650000	0.86243	CCC		0.527	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2		NM_006577	
BCHE	590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	165503969	165503969	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:165503969A>T	ENST00000264381.3	-	3	1814	c.1648T>A	c.(1648-1650)Tgg>Agg	p.W550R	BCHE_ENST00000540653.1_Missense_Mutation_p.W12R	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	550					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)	p.W550R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AATGATGTCCAGAATCGACAT	0.353																																																	1	Substitution - Missense(1)	kidney(1)											141.0	127.0	132.0					3																	165503969		2203	4299	6502	SO:0001583	missense	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1648T>A	3.37:g.165503969A>T	ENSP00000264381:p.Trp550Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972755	0.53614	.	.	ENSG00000114200	ENST00000264381;ENST00000479451;ENST00000540653;ENST00000488954	D;D;D;D	0.96587	-4.06;-4.06;-2.72;-4.06	5.72	5.72	0.89469	Acetylcholinesterase, tetramerisation (1);Carboxylesterase, type B (1);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	H	0.94582	3.555	0.47698	D	0.999496	D	0.89917	1.0	D	0.97110	1.0	D	0.99734	1.1013	10	0.87932	D	0	.	15.1866	0.73006	1.0:0.0:0.0:0.0	.	550	P06276	CHLE_HUMAN	R	550;80;12;80	ENSP00000264381:W550R;ENSP00000418325:W80R;ENSP00000443583:W12R;ENSP00000418504:W80R	ENSP00000264381:W550R	W	-	1	0	BCHE	166986663	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	4.590000	0.61013	2.184000	0.69523	0.533000	0.62120	TGG		0.353	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1			
BRE	9577	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	28532988	28532988	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:28532988C>T	ENST00000379632.2	+	13	1268	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	BRE_ENST00000379624.1_Intron|BRE_ENST00000344773.2_Intron|AC093690.1_ENST00000418963.1_RNA|BRE_ENST00000342045.2_Intron|BRE_ENST00000361704.2_Silent_p.A376A	NM_199193.2	NP_954663.1			brain and reproductive organ-expressed (TNFRSF1A modulator)									p.A376A(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCAGCTCTGCCTGACATCCAG	0.413																																																	1	Substitution - coding silent(1)	kidney(1)											119.0	116.0	117.0					2																	28532988		2203	4300	6503	SO:0001819	synonymous_variant	9577			AF015767	CCDS1763.1, CCDS1764.1, CCDS1765.1	2p23	2008-02-05			ENSG00000158019	ENSG00000158019			1106	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 4"""	610497				9737713, 7826398	Standard	NM_004899		Approved	BRCC45, BRCC4	uc002rls.3	Q9NXR7	OTTHUMG00000097831	ENST00000379632.2:c.1128C>T	2.37:g.28532988C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000379632.2	37	CCDS1765.1																																																																																				0.413	BRE-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215112.1			
M1AP	130951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74808954	74808954	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:74808954C>T	ENST00000290536.5	-	5	732	c.616G>A	c.(616-618)Gac>Aac	p.D206N	M1AP_ENST00000409585.1_Missense_Mutation_p.D206N|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.D206N	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	206					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.D206N(1)									AGGTCAATGTCAGTTCCCAGA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											137.0	127.0	130.0					2																	74808954		2203	4300	6503	SO:0001583	missense	130951				CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.616G>A	2.37:g.74808954C>T	ENSP00000290536:p.Asp206Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047267	0.93740	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235	T;T;T	0.54675	0.56;0.56;0.56	5.76	5.76	0.90799	.	0.115830	0.64402	D	0.000020	T	0.70029	0.3177	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.999;0.996;0.999	D;P;D	0.71656	0.974;0.866;0.974	T	0.70777	-0.4780	10	0.56958	D	0.05	0.0318	15.4732	0.75456	0.0:1.0:0.0:0.0	.	206;206;206	E9PGG8;Q8TC57-2;Q8TC57	.;.;CB065_HUMAN	N	206	ENSP00000290536:D206N;ENSP00000386793:D206N;ENSP00000445662:D206N	ENSP00000290536:D206N	D	-	1	0	C2orf65	74662462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.367000	0.66127	2.715000	0.92844	0.563000	0.77884	GAC		0.348	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1		NM_138804	
C4orf29	80167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	128905506	128905506	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr4:128905506C>A	ENST00000444616.1	+	3	352	c.105C>A	c.(103-105)ttC>ttA	p.F35L	C4orf29_ENST00000388795.5_5'UTR|C4orf29_ENST00000398965.1_Missense_Mutation_p.F35L			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	35						extracellular region (GO:0005576)		p.F35L(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TCTTTGAATTCAGAAAGATGA	0.313																																																	2	Substitution - Missense(2)	kidney(2)											52.0	48.0	50.0					4																	128905506		1757	3906	5663	SO:0001583	missense	80167			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.105C>A	4.37:g.128905506C>A	ENSP00000397229:p.Phe35Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	ENST00000444616.1	37		.	.	.	.	.	.	.	.	.	.	C	14.94	2.683891	0.47991	.	.	ENSG00000164074	ENST00000454347;ENST00000398965;ENST00000444616;ENST00000513371	.	.	.	5.6	3.88	0.44766	.	0.062767	0.64402	N	0.000004	T	0.47525	0.1450	L	0.41824	1.3	0.58432	D	0.999994	B	0.25048	0.117	B	0.29524	0.103	T	0.38585	-0.9654	9	0.45353	T	0.12	-12.1596	8.9386	0.35715	0.0:0.7675:0.0:0.2325	.	35	Q0P651	CD029_HUMAN	L	35	.	ENSP00000381937:F35L	F	+	3	2	C4orf29	129124956	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.593000	0.36686	0.721000	0.32231	0.655000	0.94253	TTC		0.313	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000257098.1		NM_001039717	
KIAA1456	57604	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	12879542	12879542	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr8:12879542G>C	ENST00000524591.2	+	5	1843	c.1354G>C	c.(1354-1356)Ggt>Cgt	p.G452R	KIAA1456_ENST00000447063.2_Intron	NM_001099677.1|NM_020844.2	NP_001093147.1|NP_065895.2	Q9P272	K1456_HUMAN	KIAA1456	452							methyltransferase activity (GO:0008168)	p.G365R(1)|p.G452R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						GAAAAAGAGAGGTTGTGATTG	0.423																																																	2	Substitution - Missense(2)	kidney(2)											54.0	51.0	52.0					8																	12879542		1863	4100	5963	SO:0001583	missense	0			BC035082	CCDS47808.1	8p22	2013-10-04	2011-02-23	2011-02-23	ENSG00000250305	ENSG00000250305			26725	protein-coding gene	gene with protein product		615666	"""chromosome 8 open reading frame 79"""	C8orf79		23381944	Standard	NM_020844		Approved	FLJ36980	uc010lsq.3	Q8N9K7	OTTHUMG00000165477	ENST00000524591.2:c.1354G>C	8.37:g.12879542G>C	ENSP00000432695:p.Gly452Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q96AW6	Missense_Mutation	SNP	ENST00000524591.2	37	CCDS47808.1	.	.	.	.	.	.	.	.	.	.	A	11.57	1.679194	0.29783	.	.	ENSG00000250305	ENST00000524591;ENST00000529978	T	0.11385	2.78	4.74	3.6	0.41247	.	1.016650	0.07837	N	0.962320	T	0.07954	0.0199	N	0.22421	0.69	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.41574	-0.9501	10	0.17369	T	0.5	-1.2615	8.3308	0.32184	0.8324:0.0:0.1676:0.0	.	452	Q9P272	K1456_HUMAN	R	452;365	ENSP00000432695:G452R	ENSP00000432695:G452R	G	+	1	0	AC135352.2	12923913	0.000000	0.05858	0.006000	0.13384	0.060000	0.15804	0.383000	0.20651	0.967000	0.38186	-0.269000	0.10298	GGT		0.423	KIAA1456-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383262.2		NM_001099677	
C9orf41	138199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	77632363	77632363	+	Splice_Site	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr9:77632363T>C	ENST00000376834.3	-	2	384	c.232A>G	c.(232-234)Acc>Gcc	p.T78A	RP11-197P3.5_ENST00000455336.2_RNA|C9orf41_ENST00000376830.3_Splice_Site_p.T78A|C9orf41_ENST00000376837.3_Splice_Site_p.T78A	NM_152420.1	NP_689633.1	Q8N4J0	CI041_HUMAN	chromosome 9 open reading frame 41	78								p.T78A(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						TGCATACTGGTGCTAAAACAT	0.368																																																	2	Substitution - Missense(2)	kidney(2)											105.0	99.0	101.0					9																	77632363		2203	4300	6503	SO:0001630	splice_region_variant	138199			AK098661	CCDS6649.1	9q21.31	2012-03-15			ENSG00000156017	ENSG00000156017			23435	protein-coding gene	gene with protein product						12477932	Standard	NM_152420		Approved	FLJ25795	uc004ajq.3	Q8N4J0	OTTHUMG00000020032	ENST00000376834.3:c.231-1A>G	9.37:g.77632363T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z383|Q8N7C5	Missense_Mutation	SNP	ENST00000376834.3	37	CCDS6649.1	.	.	.	.	.	.	.	.	.	.	T	10.45	1.354518	0.24512	.	.	ENSG00000156017	ENST00000376834;ENST00000376837;ENST00000451153;ENST00000376830	.	.	.	5.76	5.76	0.90799	.	0.198515	0.53938	D	0.000050	T	0.37293	0.0998	L	0.28192	0.835	0.39193	D	0.963007	P	0.34977	0.478	B	0.31442	0.13	T	0.31081	-0.9956	9	0.08599	T	0.76	-9.6921	16.3786	0.83431	0.0:0.0:0.0:1.0	.	78	Q8N4J0	CI041_HUMAN	A	78;78;17;78	.	ENSP00000366026:T78A	T	-	1	0	C9orf41	76822183	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.459000	0.53021	2.323000	0.78572	0.528000	0.53228	ACC		0.368	C9orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052703.1		NM_152420	Missense_Mutation
CAND2	23066	broad.mit.edu	37	3	12856884	12856884	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:12856884G>T	ENST00000456430.2	+	8	1292	c.1251G>T	c.(1249-1251)atG>atT	p.M417I	CAND2_ENST00000295989.5_Missense_Mutation_p.M324I	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	417					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)		p.M324I(1)|p.M417I(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGGAGGCCATGGAGGAACCCA	0.607																																					GBM(43;676 868 1633 6395 37496)												2	Substitution - Missense(2)	kidney(2)											40.0	49.0	46.0					3																	12856884		2085	4200	6285	SO:0001583	missense	23066				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.1251G>T	3.37:g.12856884G>T	ENSP00000387641:p.Met417Ile	Somatic		WXS	Illumina GAIIx	Phase_I	B9EGM9|E9KL24	Missense_Mutation	SNP	ENST00000456430.2	37	CCDS54554.1	.	.	.	.	.	.	.	.	.	.	G	9.209	1.030540	0.19512	.	.	ENSG00000144712	ENST00000295989;ENST00000456430	T;T	0.64260	-0.09;-0.09	4.7	1.66	0.24008	Armadillo-like helical (1);Armadillo-type fold (1);	1.177130	0.06056	N	0.657515	T	0.37919	0.1021	N	0.08118	0	0.58432	D	0.99999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.49123	-0.8972	10	0.36615	T	0.2	-4.4929	2.2005	0.03922	0.17:0.1655:0.4951:0.1694	.	417;324	O75155;O75155-2	CAND2_HUMAN;.	I	324;417	ENSP00000295989:M324I;ENSP00000387641:M417I	ENSP00000295989:M324I	M	+	3	0	CAND2	12831884	0.000000	0.05858	0.898000	0.35279	0.770000	0.43624	-0.798000	0.04565	0.936000	0.37367	0.561000	0.74099	ATG		0.607	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339856.4		XM_371617	
CADPS	8618	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	62385148	62385148	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:62385148C>A	ENST00000383710.4	-	30	4344	c.3995G>T	c.(3994-3996)aGt>aTt	p.S1332I	CADPS_ENST00000283269.9_Missense_Mutation_p.S1293I|CADPS_ENST00000357948.3_Missense_Mutation_p.S1253I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1332	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.S1332I(1)|p.S1293I(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCCACCTTCACTCACTGATGC	0.527																																																	2	Substitution - Missense(2)	kidney(2)											207.0	180.0	189.0					3																	62385148		2203	4300	6503	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3995G>T	3.37:g.62385148C>A	ENSP00000373215:p.Ser1332Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	ENST00000383710.4	37	CCDS46858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.36|16.36	3.100063|3.100063	0.56183|0.56183	.|.	.|.	ENSG00000163618|ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269|ENST00000473635	T;T;T|.	0.33654|.	1.4;1.4;1.4|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	0.046647|.	0.85682|.	D|.	0.000000|.	T|T	0.76054|0.76054	0.3934|0.3934	M|M	0.68593|0.68593	2.085|2.085	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.46220|.	0.812;0.874;0.475;0.812|.	P;P;B;P|.	0.50490|.	0.568;0.466;0.133;0.642|.	T|T	0.72808|0.72808	-0.4181|-0.4181	10|5	0.87932|.	D|.	0|.	.|.	20.2019|20.2019	0.98263|0.98263	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1253;1293;1332;1337|.	Q9ULU8-2;Q9ULU8-3;Q9ULU8;Q9ULU8-4|.	.;.;CAPS1_HUMAN;.|.	I|L	1338;1332;1253;1293|324	ENSP00000373215:S1332I;ENSP00000350632:S1253I;ENSP00000283269:S1293I|.	ENSP00000283269:S1293I|.	S|V	-|-	2|1	0|0	CADPS|CADPS	62360188|62360188	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.487000|7.487000	0.81328|0.81328	2.776000|2.776000	0.95493|0.95493	0.655000|0.655000	0.94253|0.94253	AGT|GTG		0.527	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5		NM_003716, NM_183393, NM_183394	
CASC5	57082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40949238	40949238	+	Splice_Site	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr15:40949238A>T	ENST00000346991.5	+	24	6952		c.e24-1		CASC5_ENST00000399668.2_Splice_Site			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5						acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.?(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ttccttccccagaggatcaag	0.328																																																	1	Unknown(1)	kidney(1)											21.0	19.0	20.0					15																	40949238		1803	4068	5871	SO:0001630	splice_region_variant	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.6563-1A>T	15.37:g.40949238A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Splice_Site	SNP	ENST00000346991.5	37	CCDS42023.1																																																																																				0.328	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2		NM_144508	Intron
CCDC136	64753	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	128434749	128434749	+	Splice_Site	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:128434749G>A	ENST00000297788.4	+	3	640	c.273G>A	c.(271-273)ggG>ggA	p.G91G	CCDC136_ENST00000378685.4_Splice_Site_p.G141G|CCDC136_ENST00000464832.1_Splice_Site_p.G141G|CCDC136_ENST00000487361.1_Splice_Site_p.G91G	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	91	Glu-rich.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.G91G(2)|p.G207G(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TCCCTGCAGGGCTCCTGGAGG	0.652																																																	3	Substitution - coding silent(3)	kidney(3)											17.0	20.0	19.0					7																	128434749		1729	3703	5432	SO:0001630	splice_region_variant	64753				CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.272-1G>A	7.37:g.128434749G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Silent	SNP	ENST00000297788.4	37	CCDS47704.1																																																																																				0.652	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1		NM_022742	Silent
CCDC97	90324	broad.mit.edu	37	19	41826334	41826334	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:41826334C>T	ENST00000269967.3	+	4	992	c.870C>T	c.(868-870)caC>caT	p.H290H		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	290								p.H290H(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						GCCGCATGCACCAGCGCTTCC	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											102.0	87.0	92.0					19																	41826334		2203	4300	6503	SO:0001819	synonymous_variant	90324			BC011577	CCDS12578.1	19q13.2	2008-02-05							28289	protein-coding gene	gene with protein product						12477932	Standard	NM_052848		Approved	FLJ40267, MGC20255	uc002oqg.3	Q96F63		ENST00000269967.3:c.870C>T	19.37:g.41826334C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q658N6|Q96IF3	Silent	SNP	ENST00000269967.3	37	CCDS12578.1																																																																																				0.637	CCDC97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463293.1		NM_052848	
CCNY	219771	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	35819094	35819094	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr10:35819094C>G	ENST00000374704.4	+	7	682	c.502C>G	c.(502-504)Cag>Gag	p.Q168E	CCNY_ENST00000265375.9_Missense_Mutation_p.Q114E|CCNY_ENST00000374706.1_Missense_Mutation_p.Q114E|CCNY_ENST00000339497.5_Missense_Mutation_p.Q143E|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	168	Cyclin N-terminal.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)	p.Q114E(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CAACCCAGAGCAGAAGCAGAT	0.493																																																	1	Substitution - Missense(1)	kidney(1)											129.0	94.0	105.0					10																	35819094		2203	4300	6503	SO:0001583	missense	219771			AF413522, AY504868	CCDS7189.1, CCDS7190.1, CCDS60513.1	10p11.22	2011-01-25	2007-02-09	2007-02-09	ENSG00000108100	ENSG00000108100			23354	protein-coding gene	gene with protein product		612786	"""chromosome 10 open reading frame 9"""	C10orf9		20441050	Standard	XM_005252388		Approved	CFP1, CBCP1	uc001iyw.4	Q8ND76	OTTHUMG00000017955	ENST00000374704.4:c.502C>G	10.37:g.35819094C>G	ENSP00000363836:p.Gln168Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKX9|D3DRY9|Q2M3V4|Q2TU96|Q6NT86|Q7Z4U7|Q8TEX2|Q8TEX3|Q96M99|Q96P45	Missense_Mutation	SNP	ENST00000374704.4	37	CCDS7189.1	.	.	.	.	.	.	.	.	.	.	C	33	5.207929	0.95033	.	.	ENSG00000108100	ENST00000374706;ENST00000537547;ENST00000374704;ENST00000339497;ENST00000265375;ENST00000456784	T;T;T;T	0.10763	2.84;2.84;2.84;2.84	5.91	5.91	0.95273	Cyclin, N-terminal (1);Cyclin-like (1);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	N	0.04090	-0.28	0.80722	D	1	B;P;P	0.36183	0.389;0.486;0.542	B;B;B	0.42959	0.158;0.281;0.403	T	0.45789	-0.9237	10	0.33940	T	0.23	1.2917	20.2896	0.98541	0.0:1.0:0.0:0.0	.	35;143;168	B7Z8E4;Q8ND76-2;Q8ND76	.;.;CCNY_HUMAN	E	114;168;168;143;114;35	ENSP00000363838:Q114E;ENSP00000363836:Q168E;ENSP00000344275:Q143E;ENSP00000265375:Q114E	ENSP00000265375:Q114E	Q	+	1	0	CCNY	35859100	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.794000	0.96219	0.655000	0.94253	CAG		0.493	CCNY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047568.2		NM_181698	
CD300LG	146894	broad.mit.edu;ucsc.edu	37	17	41931340	41931340	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:41931340C>G	ENST00000317310.4	+	4	688	c.647C>G	c.(646-648)cCc>cGc	p.P216R	CD300LG_ENST00000539718.1_Missense_Mutation_p.P216R|CD300LG_ENST00000377203.4_Missense_Mutation_p.P182R|CD300LG_ENST00000586233.1_Missense_Mutation_p.P131R|CD300LG_ENST00000293396.8_Missense_Mutation_p.P131R	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	216					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.P216R(1)		central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCTCCCGCCCCCCCATGCAG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											61.0	52.0	55.0					17																	41931340		2203	4300	6503	SO:0001583	missense	146894			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.647C>G	17.37:g.41931340C>G	ENSP00000321005:p.Pro216Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Missense_Mutation	SNP	ENST00000317310.4	37	CCDS11470.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889697	0.33348	.	.	ENSG00000161649	ENST00000317310;ENST00000539718;ENST00000377203;ENST00000293396	T;T;T;T	0.08720	3.09;3.06;3.44;3.49	3.94	-3.08	0.05347	.	0.540486	0.16026	N	0.233093	T	0.11281	0.0275	L	0.38175	1.15	0.09310	N	1	D;D;D;D;D	0.89917	1.0;0.998;0.986;0.976;0.999	D;D;P;P;D	0.74674	0.984;0.937;0.76;0.654;0.968	T	0.17048	-1.0382	10	0.25751	T	0.34	-1.9951	3.2159	0.06699	0.2983:0.3541:0.0:0.3476	.	182;131;216;216;131	F8W9M3;Q6UXG3-3;F5H7P9;Q6UXG3;Q6UXG3-2	.;.;.;CLM9_HUMAN;.	R	216;216;182;131	ENSP00000321005:P216R;ENSP00000442368:P216R;ENSP00000366408:P182R;ENSP00000293396:P131R	ENSP00000293396:P131R	P	+	2	0	CD300LG	39286866	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.026000	0.13599	-0.544000	0.06232	0.655000	0.94253	CCC		0.622	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457646.1		NM_145273	
CDC42BPA	8476	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	227288695	227288695	+	Silent	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:227288695T>C	ENST00000366769.3	-	15	3538	c.2247A>G	c.(2245-2247)gaA>gaG	p.E749E	CDC42BPA_ENST00000535525.1_Silent_p.E749E|CDC42BPA_ENST00000366766.2_Silent_p.E749E|CDC42BPA_ENST00000334218.5_Silent_p.E749E|CDC42BPA_ENST00000366765.3_Silent_p.E749E|CDC42BPA_ENST00000366767.3_Silent_p.E668E|CDC42BPA_ENST00000366764.2_Silent_p.E749E	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)									p.E749E(2)|p.E668E(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ATTCTTACCTTTCTCTTCTGG	0.308																																																	3	Substitution - coding silent(3)	kidney(3)											43.0	42.0	42.0					1																	227288695		2200	4286	6486	SO:0001819	synonymous_variant	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2247A>G	1.37:g.227288695T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000366769.3	37	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	t	12.60	1.985893	0.35036	.	.	ENSG00000143776	ENST00000442054	.	.	.	5.7	3.68	0.42216	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49643	-0.8918	4	.	.	.	.	6.9539	0.24560	0.0:0.3021:0.0:0.6979	.	.	.	.	E	43	.	.	K	-	1	0	CDC42BPA	225355318	0.979000	0.34478	1.000000	0.80357	0.980000	0.70556	0.183000	0.16919	0.682000	0.31407	0.524000	0.50904	AAG		0.308	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826	
CDH7	1005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	63530103	63530103	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr18:63530103T>A	ENST00000397968.2	+	11	2240	c.1814T>A	c.(1813-1815)cTc>cAc	p.L605H	RP11-389J22.1_ENST00000581987.1_RNA|CDH7_ENST00000323011.3_Missense_Mutation_p.L605H|CDH7_ENST00000536984.2_Missense_Mutation_p.L605H	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	605					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L605H(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CCTGCTGGCCTCAGTACAGGA	0.542																																																	2	Substitution - Missense(2)	kidney(2)											107.0	94.0	98.0					18																	63530103		2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1814T>A	18.37:g.63530103T>A	ENSP00000381058:p.Leu605His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	T	16.92	3.256698	0.59321	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.62105	0.05;0.27;0.05	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	M	0.93638	3.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.88588	0.3141	10	0.87932	D	0	.	15.3548	0.74418	0.0:0.0:0.0:1.0	.	605;605	F5H5X9;Q9ULB5	.;CADH7_HUMAN	H	605	ENSP00000319166:L605H;ENSP00000443030:L605H;ENSP00000381058:L605H	ENSP00000319166:L605H	L	+	2	0	CDH7	61681083	1.000000	0.71417	0.933000	0.37362	0.040000	0.13550	8.013000	0.88655	2.044000	0.60594	0.482000	0.46254	CTC		0.542	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2		NM_033646	
CDK12	51755	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37646824	37646824	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:37646824T>G	ENST00000447079.4	+	3	1979	c.1946T>G	c.(1945-1947)cTt>cGt	p.L649R	CDK12_ENST00000430627.2_Missense_Mutation_p.L649R	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	649					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.L649R(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						AAAGAAACTCTTCCTTCAAAA	0.398			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Substitution - Missense(1)	kidney(1)											48.0	43.0	45.0					17																	37646824		2203	4300	6503	SO:0001583	missense	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1946T>G	17.37:g.37646824T>G	ENSP00000398880:p.Leu649Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	T	15.05	2.717764	0.48622	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.70282	-0.47;-0.46	5.15	5.15	0.70609	.	0.000000	0.38436	N	0.001688	T	0.68696	0.3029	L	0.47716	1.5	0.42796	D	0.993911	P;P;P	0.52061	0.917;0.917;0.95	P;P;P	0.53809	0.548;0.548;0.735	T	0.65125	-0.6244	10	0.10902	T	0.67	-7.6201	9.2367	0.37470	0.0:0.0822:0.0:0.9178	.	648;649;649	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	R	649	ENSP00000407720:L649R;ENSP00000398880:L649R	ENSP00000407720:L649R	L	+	2	0	CDK12	34900350	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	1.776000	0.38594	1.956000	0.56807	0.533000	0.62120	CTT		0.398	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4		NM_016507	
CDK13	8621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	40134425	40134425	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:40134425A>G	ENST00000181839.4	+	14	4990	c.4385A>G	c.(4384-4386)tAt>tGt	p.Y1462C	CDK13_ENST00000340829.5_Missense_Mutation_p.Y1402C	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1462					alternative mRNA splicing, via spliceosome (GO:0000380)|hemopoiesis (GO:0030097)|multicellular organismal development (GO:0007275)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|positive regulation of cell proliferation (GO:0008284)|regulation of mitosis (GO:0007088)|viral process (GO:0016032)	cyclin K-CDK13 complex (GO:0002945)|extracellular space (GO:0005615)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.Y1462C(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AACTATAACTATGGTGGTAAC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											93.0	81.0	85.0					7																	40134425		2203	4300	6503	SO:0001583	missense	8621			M80629	CCDS5461.1, CCDS5462.1	7p14.1	2011-11-08	2009-12-16	2009-12-16	ENSG00000065883	ENSG00000065883		"""Cyclin-dependent kinases"""	1733	protein-coding gene	gene with protein product	"""cholinesterase-related cell division controller"""	603309	"""cell division cycle 2-like 5 (cholinesterase-related cell division controller)"""	CDC2L5		1731328, 19884882	Standard	NM_003718		Approved	CHED, CDC2L, KIAA1791	uc003thh.4	Q14004	OTTHUMG00000023726	ENST00000181839.4:c.4385A>G	7.37:g.40134425A>G	ENSP00000181839:p.Tyr1462Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q53G78|Q6DKQ9|Q75MH4|Q75MH5|Q96JN4|Q9H4A0|Q9H4A1|Q9UDR4	Missense_Mutation	SNP	ENST00000181839.4	37	CCDS5461.1	.	.	.	.	.	.	.	.	.	.	A	12.94	2.087422	0.36855	.	.	ENSG00000065883	ENST00000181839;ENST00000340829	T;T	0.50277	0.75;0.75	5.28	4.12	0.48240	.	.	.	.	.	T	0.60612	0.2282	L	0.53249	1.67	0.44611	D	0.997587	D;B	0.76494	0.999;0.005	D;B	0.81914	0.995;0.003	T	0.57700	-0.7766	8	.	.	.	-1.5391	11.131	0.48347	0.9271:0.0:0.0729:0.0	.	1402;1462	Q14004-2;Q14004	.;CDK13_HUMAN	C	1462;1402	ENSP00000181839:Y1462C;ENSP00000340557:Y1402C	.	Y	+	2	0	CDK13	40100950	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.991000	0.70602	0.856000	0.35383	-0.296000	0.09543	TAT		0.512	CDK13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250726.2		NM_003718	
CFHR3	10878	broad.mit.edu;hgsc.bcm.edu	37	1	196762628	196762628	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:196762628C>T	ENST00000367425.4	+	6	1070	c.978C>T	c.(976-978)taC>taT	p.Y326Y	CFHR3_ENST00000391985.3_Silent_p.Y265Y	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	326	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.Y326Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TAGTGGAATACCCCAGATGCG	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											110.0	129.0	123.0					1																	196762628		1911	4129	6040	SO:0001819	synonymous_variant	10878			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.978C>T	1.37:g.196762628C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DPR0|Q9UJ16	Silent	SNP	ENST00000367425.4	37	CCDS30958.1																																																																																				0.388	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2		NM_021023	
CLCN7	1186	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1515299	1515299	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:1515299C>T	ENST00000382745.4	-	2	787	c.182G>A	c.(181-183)aGc>aAc	p.S61N	LA16c-390E6.3_ENST00000563223.1_RNA|CLCN7_ENST00000262318.8_Intron|CLCN7_ENST00000448525.1_Intron|CLCN7_ENST00000566812.1_5'Flank	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	61					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|response to pH (GO:0009268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.S61N(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CAGCTCCACGCTGCTCATATG	0.572																																																	1	Substitution - Missense(1)	kidney(1)											114.0	79.0	91.0					16																	1515299		2199	4300	6499	SO:0001583	missense	1186			Z67743	CCDS32361.1, CCDS45378.1	16p13	2012-09-26	2012-02-23		ENSG00000103249	ENSG00000103249		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ion channels / Chloride channels : Voltage-sensitive"""	2025	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 63"""	602727	"""chloride channel 7"""			8543009	Standard	NM_001114331		Approved	CLC-7, OPTA2, CLC7, ClC-7, PPP1R63	uc002clv.3	P51798	OTTHUMG00000044467	ENST00000382745.4:c.182G>A	16.37:g.1515299C>T	ENSP00000372193:p.Ser61Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEJ7|A8K5T9|A8K7X1|B3KPN3|E9PDB9|Q9NYX5	Missense_Mutation	SNP	ENST00000382745.4	37	CCDS32361.1	.	.	.	.	.	.	.	.	.	.	C	0.470	-0.885069	0.02511	.	.	ENSG00000103249	ENST00000262318;ENST00000382745;ENST00000428756	D	0.89939	-2.59	4.77	-1.8	0.07907	.	0.322238	0.34959	N	0.003553	T	0.64768	0.2628	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.56805	-0.7918	10	0.02654	T	1	-14.1169	5.3315	0.15936	0.0:0.3428:0.288:0.3691	.	61	P51798	CLCN7_HUMAN	N	14;61;3	ENSP00000372193:S61N	ENSP00000262318:S14N	S	-	2	0	CLCN7	1455300	0.010000	0.17322	0.614000	0.29051	0.586000	0.36452	-0.496000	0.06436	-0.743000	0.04784	-0.430000	0.05897	AGC		0.572	CLCN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103598.2		NM_001287	
CLIP1	6249	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	122831951	122831951	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:122831951T>C	ENST00000540338.1	-	9	1518	c.1477A>G	c.(1477-1479)Aaa>Gaa	p.K493E	CLIP1_ENST00000545889.1_Missense_Mutation_p.K183E|CLIP1_ENST00000358808.2_Missense_Mutation_p.K482E|CLIP1_ENST00000537178.1_Intron|CLIP1_ENST00000302528.7_Missense_Mutation_p.K482E|CLIP1_ENST00000361654.4_Intron			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	493					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.K482E(1)		NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTCTGGAGTTTGTCAGCTTTG	0.458																																																	1	Substitution - Missense(1)	kidney(1)											167.0	148.0	155.0					12																	122831951		2203	4300	6503	SO:0001583	missense	6249				CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1477A>G	12.37:g.122831951T>C	ENSP00000439093:p.Lys493Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874860	0.91664	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000540338;ENST00000540304	T;T;T;T;T	0.62941	2.54;0.41;0.41;0.59;-0.01	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.74861	0.3772	M	0.63843	1.955	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.70718	-0.4795	10	0.17369	T	0.5	-22.9034	15.7435	0.77920	0.0:0.0:0.0:1.0	.	482;493	P30622-1;P30622	.;CLIP1_HUMAN	E	183;482;482;327;493;416	ENSP00000438743:K183E;ENSP00000303585:K482E;ENSP00000351665:K482E;ENSP00000439093:K493E;ENSP00000437786:K416E	ENSP00000303585:K482E	K	-	1	0	CLIP1	121397904	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.997000	0.88414	2.181000	0.69327	0.528000	0.53228	AAA		0.458	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1		NM_002956	
CNPY4	245812	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99722440	99722440	+	Missense_Mutation	SNP	G	G	C	rs187806620		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:99722440G>C	ENST00000262932.3	+	6	808	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	MBLAC1_ENST00000398075.2_5'Flank|CNPY4_ENST00000480692.1_3'UTR|RP11-506M12.1_ENST00000494221.1_RNA	NM_152755.1	NP_689968.1	Q8N129	CNPY4_HUMAN	canopy FGF signaling regulator 4	226	Glu-rich.					extracellular region (GO:0005576)		p.E226Q(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ggaggaagaggaggaagagga	0.532																																																	1	Substitution - Missense(1)	kidney(1)											146.0	139.0	141.0					7																	99722440		2203	4300	6503	SO:0001583	missense	245812			AK075537	CCDS34701.1	7q22.1	2013-07-23	2013-07-23		ENSG00000166997	ENSG00000166997			28631	protein-coding gene	gene with protein product	"""protein associated with TLR4"""	610047	"""canopy 4 homolog (zebrafish)"""			12975309	Standard	NM_152755		Approved	MGC40499, PRAT4B	uc003uto.3	Q8N129	OTTHUMG00000154817	ENST00000262932.3:c.676G>C	7.37:g.99722440G>C	ENSP00000262932:p.Glu226Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q8WUN9	Missense_Mutation	SNP	ENST00000262932.3	37	CCDS34701.1	.	.	.	.	.	.	.	.	.	.	G	3.314	-0.140163	0.06669	.	.	ENSG00000166997	ENST00000262932	T	0.32988	1.43	0.758	0.758	0.18432	.	.	.	.	.	T	0.12817	0.0311	N	0.24115	0.695	0.09310	N	1	P	0.39094	0.659	B	0.16722	0.016	T	0.14200	-1.0481	9	0.33940	T	0.23	.	4.8127	0.13351	0.0:0.0:1.0:0.0	.	226	Q8N129	CNPY4_HUMAN	Q	226	ENSP00000262932:E226Q	ENSP00000262932:E226Q	E	+	1	0	CNPY4	99560376	0.106000	0.21978	0.071000	0.20095	0.184000	0.23303	0.123000	0.15708	0.697000	0.31718	0.561000	0.74099	GAG		0.532	CNPY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337224.4		NM_152755	
CNTNAP4	85445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	76501348	76501348	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:76501348T>A	ENST00000476707.1	+	9	1731	c.1592T>A	c.(1591-1593)cTg>cAg	p.L531Q	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L455Q|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L479Q|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.L527Q|SNORD33_ENST00000516213.1_RNA			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	528	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)		p.L527Q(1)|p.L503Q(1)|p.L455Q(1)		breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						GTGGTAGATCTGATTTCAGTT	0.458																																																	3	Substitution - Missense(3)	kidney(3)											122.0	113.0	116.0					16																	76501348		2198	4300	6498	SO:0001583	missense	85445			AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.1592T>A	16.37:g.76501348T>A	ENSP00000417628:p.Leu531Gln	Somatic		WXS	Illumina HiSeq	Phase_I	E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37		.	.	.	.	.	.	.	.	.	.	T	16.94	3.260689	0.59431	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.32836	N	0.005591	D	0.87557	0.6207	.	.	.	0.41991	D	0.990849	D;P;D;D	0.76494	0.999;0.618;0.999;0.987	D;B;D;P	0.70227	0.968;0.309;0.954;0.851	D	0.89266	0.3601	9	0.72032	D	0.01	.	15.2786	0.73764	0.0:0.0:0.0:1.0	.	455;531;503;528	E9PFZ6;E9PDN6;Q96M80;Q9C0A0	.;.;.;CNTP4_HUMAN	Q	527;479;455;531	ENSP00000306893:L527Q;ENSP00000439733:L479Q;ENSP00000418741:L455Q;ENSP00000417628:L531Q	ENSP00000306893:L527Q	L	+	2	0	CNTNAP4	75058849	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	7.376000	0.79658	2.274000	0.75844	0.528000	0.53228	CTG		0.458	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1		NM_033401	
COPS5	10987	hgsc.bcm.edu;ucsc.edu	37	8	67968826	67968826	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr8:67968826delG	ENST00000357849.4	-	5	907	c.587delC	c.(586-588)cctfs	p.P196fs	COPS5_ENST00000517736.1_Frame_Shift_Del_p.P132fs|PPP1R42_ENST00000517834.1_5'UTR|AC109335.1_ENST00000578628.1_RNA	NM_006837.2	NP_006828.2	Q92905	CSN5_HUMAN	COP9 signalosome subunit 5	196					cullin deneddylation (GO:0010388)|exosomal secretion (GO:1990182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein deneddylation (GO:0000338)|protein deubiquitination (GO:0016579)|regulation of cell cycle (GO:0051726)|regulation of JNK cascade (GO:0046328)|transcription from RNA polymerase II promoter (GO:0006366)|translation (GO:0006412)|translational initiation (GO:0006413)	cell junction (GO:0030054)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 3 complex (GO:0005852)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|transcription coactivator activity (GO:0003713)|translation initiation factor activity (GO:0003743)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TCCTTCATCAGGAGGTTTGTA	0.259																																																	0													77.0	77.0	77.0					8																	67968826		2203	4300	6503	SO:0001589	frameshift_variant	10987			U65928	CCDS6198.1	8q13.1	2013-03-14	2013-03-14		ENSG00000121022	ENSG00000121022			2240	protein-coding gene	gene with protein product		604850	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 5"", ""COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis)"""			8837781, 9341143	Standard	NM_006837		Approved	JAB1, SGN5, MOV-34, CSN5	uc003xxe.3	Q92905	OTTHUMG00000164563	ENST00000357849.4:c.587delC	8.37:g.67968826delG	ENSP00000350512:p.Pro196fs	Somatic		WXS	Illumina HiSeq	Phase_I	O15386|Q6AW95|Q86WQ4|Q9BQ17	Frame_Shift_Del	DEL	ENST00000357849.4	37	CCDS6198.1																																																																																				0.259	COPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379245.2			
CPZ	8532	broad.mit.edu;ucsc.edu	37	4	8609117	8609117	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr4:8609117G>A	ENST00000360986.4	+	7	1366	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000382480.2_Missense_Mutation_p.E261K|CPZ_ENST00000315782.6_Missense_Mutation_p.E387K	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	398					proteolysis (GO:0006508)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.E398K(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GCACCCCCAGGAGGAGAAGAT	0.612											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											104.0	89.0	94.0					4																	8609117		2203	4300	6503	SO:0001583	missense	8532			U83411	CCDS3404.1, CCDS33953.1, CCDS43212.1	4p16.1	2012-02-10			ENSG00000109625	ENSG00000109625			2333	protein-coding gene	gene with protein product	"""metallocarboxypeptidase Z"""	603105				9099699	Standard	NM_001014447		Approved		uc003glm.3	Q66K79	OTTHUMG00000090513	ENST00000360986.4:c.1192G>A	4.37:g.8609117G>A	ENSP00000354255:p.Glu398Lys	Somatic	650	WXS	Illumina GAIIx	Phase_I	O00520|Q96MX2	Missense_Mutation	SNP	ENST00000360986.4	37	CCDS33953.1	.	.	.	.	.	.	.	.	.	.	g	17.14	3.314677	0.60524	.	.	ENSG00000109625	ENST00000360986;ENST00000382480;ENST00000315782	T;T;T	0.58210	0.67;2.05;0.35	4.3	3.43	0.39272	Peptidase M14, carboxypeptidase A (2);	0.120561	0.53938	U	0.000047	T	0.43077	0.1231	L	0.33293	1	0.80722	D	1	B;B	0.26547	0.152;0.056	B;B	0.33295	0.161;0.16	T	0.15925	-1.0420	10	0.17832	T	0.49	-21.3227	13.9156	0.63895	0.0:0.154:0.846:0.0	.	387;398	Q66K79-2;Q66K79	.;CBPZ_HUMAN	K	398;261;387	ENSP00000354255:E398K;ENSP00000371920:E261K;ENSP00000315074:E387K	ENSP00000315074:E387K	E	+	1	0	CPZ	8660017	1.000000	0.71417	0.981000	0.43875	0.972000	0.66771	4.758000	0.62220	0.769000	0.33313	0.444000	0.29173	GAG		0.612	CPZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207001.4		NM_003652	
CTAGE5	4253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	39763224	39763224	+	Silent	SNP	G	G	A	rs141828907		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr14:39763224G>A	ENST00000280083.3	+	7	830	c.516G>A	c.(514-516)agG>agA	p.R172R	CTAGE5_ENST00000396158.2_Silent_p.R177R|CTAGE5_ENST00000557038.1_Silent_p.R92R|CTAGE5_ENST00000553352.1_Silent_p.R143R|CTAGE5_ENST00000341502.5_Silent_p.R172R|CTAGE5_ENST00000556148.1_Silent_p.R97R|CTAGE5_ENST00000396165.4_Silent_p.R143R|RP11-407N17.3_ENST00000553728.1_Silent_p.R707R|CTAGE5_ENST00000341749.3_Silent_p.R160R|CTAGE5_ENST00000348007.3_Silent_p.R172R|RP11-407N17.3_ENST00000603904.1_Silent_p.R143R			O15320	CTGE5_HUMAN	CTAGE family, member 5	172					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)	p.R172R(1)	CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTTCAAAAAGGATACAGTCTC	0.323																																																	1	Substitution - coding silent(1)	kidney(1)											116.0	125.0	122.0					14																	39763224		2203	4298	6501	SO:0001819	synonymous_variant	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.516G>A	14.37:g.39763224G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	ENST00000280083.3	37	CCDS9674.1																																																																																				0.323	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2		NM_005930	
DENND4B	9909	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	153913052	153913052	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:153913052A>T	ENST00000361217.4	-	10	1775	c.1357T>A	c.(1357-1359)Tac>Aac	p.Y453N		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	453	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.Y341N(1)|p.Y453N(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGAGGAATGTAGGGGCACTGC	0.582																																																	2	Substitution - Missense(2)	kidney(2)											37.0	39.0	38.0					1																	153913052		2121	4240	6361	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1357T>A	1.37:g.153913052A>T	ENSP00000354597:p.Tyr453Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.682686	0.88542	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.24151	1.87;1.87	4.94	4.94	0.65067	DENN (3);	0.000000	0.85682	D	0.000000	T	0.56934	0.2019	H	0.96239	3.79	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.72261	-0.4345	10	0.87932	D	0	-14.5566	13.7313	0.62789	1.0:0.0:0.0:0.0	.	453	O75064	DEN4B_HUMAN	N	453;464	ENSP00000354597:Y453N;ENSP00000357635:Y464N	ENSP00000354597:Y453N	Y	-	1	0	DENND4B	152179676	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.310000	0.78947	2.081000	0.62600	0.533000	0.62120	TAC		0.582	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2		XM_375806	
DIP2C	22982	broad.mit.edu;ucsc.edu	37	10	409187	409187	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr10:409187G>T	ENST00000280886.6	-	21	2629	c.2542C>A	c.(2542-2544)Cct>Act	p.P848T	DIP2C_ENST00000540204.1_Missense_Mutation_p.P169T|DIP2C_ENST00000381496.3_3'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	848						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.P848T(1)		breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTGGAGTCAGGCCTCTGCTCA	0.637																																																	1	Substitution - Missense(1)	kidney(1)											177.0	118.0	138.0					10																	409187		2203	4300	6503	SO:0001583	missense	22982			BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.2542C>A	10.37:g.409187G>T	ENSP00000280886:p.Pro848Thr	Somatic		WXS	Illumina GAIIx	Phase_I	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	37	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.825901	0.71143	.	.	ENSG00000151240	ENST00000280886;ENST00000540204	T;T	0.48522	2.7;0.81	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.70281	0.3206	M	0.74467	2.265	0.80722	D	1	D;P	0.89917	1.0;0.866	D;P	0.91635	0.999;0.566	T	0.66464	-0.5917	10	0.35671	T	0.21	-28.1405	20.0172	0.97481	0.0:0.0:1.0:0.0	.	169;848	B4DPI5;Q9Y2E4	.;DIP2C_HUMAN	T	848;169	ENSP00000280886:P848T;ENSP00000443826:P169T	ENSP00000280886:P848T	P	-	1	0	DIP2C	399187	1.000000	0.71417	0.996000	0.52242	0.647000	0.38526	8.054000	0.89451	2.731000	0.93534	0.557000	0.71058	CCT		0.637	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1		NM_014974	
DOCK10	55619	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	225668898	225668898	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:225668898G>T	ENST00000258390.7	-	39	4266	c.4199C>A	c.(4198-4200)tCc>tAc	p.S1400Y	DOCK10_ENST00000409592.3_Missense_Mutation_p.S1394Y	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1400					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1398Y(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GTTCTGGGTGGACTGCACAAA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											94.0	90.0	91.0					2																	225668898		1838	4092	5930	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4199C>A	2.37:g.225668898G>T	ENSP00000258390:p.Ser1400Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	CCDS46528.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.11|15.11	2.735346|2.735346	0.48939|0.48939	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000422684|ENST00000409592;ENST00000258390	.|T;T	.|0.68765	.|4.56;-0.35	5.68|5.68	5.68|5.68	0.88126|0.88126	.|.	.|0.932410	.|0.09062	.|N	.|0.854102	T|T	0.55816|0.55816	0.1944|0.1944	N|N	0.22421|0.22421	0.69|0.69	0.34187|0.34187	D|D	0.67164|0.67164	.|P;B;B;B	.|0.39624	.|0.681;0.214;0.306;0.001	.|B;B;B;B	.|0.34779	.|0.133;0.123;0.189;0.002	T|T	0.60875|0.60875	-0.7176|-0.7176	5|10	.|0.33940	.|T	.|0.23	.|.	16.797|16.797	0.85605|0.85605	0.0:0.1284:0.8716:0.0|0.0:0.1284:0.8716:0.0	.|.	.|1400;254;1394;62	.|Q96BY6;B4DF07;B3FL70;B4DEY4	.|DOC10_HUMAN;.;.;.	T|Y	282|1394;1400	.|ENSP00000386694:S1394Y;ENSP00000258390:S1400Y	.|ENSP00000258390:S1400Y	P|S	-|-	1|2	0|0	DOCK10|DOCK10	225377142|225377142	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.507000|7.507000	0.81676|0.81676	2.680000|2.680000	0.91292|0.91292	0.585000|0.585000	0.79938|0.79938	CCA|TCC		0.353	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			
DPCR1	135656	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	30916609	30916609	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr6:30916609A>T	ENST00000462446.1	+	2	396	c.368A>T	c.(367-369)gAa>gTa	p.E123V	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	123						integral component of membrane (GO:0016021)		p.E123V(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						ACTTCTGAAGAAAACTCCAGC	0.468																																																	2	Substitution - Missense(2)	kidney(2)											61.0	50.0	53.0					6																	30916609		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.368A>T	6.37:g.30916609A>T	ENSP00000417182:p.Glu123Val	Somatic		WXS	Illumina HiSeq	Phase_I	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	ENST00000462446.1	37	CCDS4692.2	.	.	.	.	.	.	.	.	.	.	A	15.44	2.834559	0.50951	.	.	ENSG00000168631	ENST00000462446;ENST00000450344	T	0.44083	0.93	3.29	3.29	0.37713	.	.	.	.	.	T	0.14356	0.0347	N	0.14661	0.345	0.40556	D	0.981168	P	0.52316	0.952	B	0.41036	0.346	T	0.04840	-1.0923	9	0.72032	D	0.01	-0.35	10.2285	0.43241	1.0:0.0:0.0:0.0	.	123	E9PEI6	.	V	123	ENSP00000417182:E123V	ENSP00000411741:E123V	E	+	2	0	DPCR1	31024588	0.007000	0.16637	0.003000	0.11579	0.031000	0.12232	1.579000	0.36536	1.730000	0.51580	0.402000	0.26972	GAA		0.468	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076173.3		NM_080870	
DRD1	1812	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	174869226	174869226	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:174869226A>T	ENST00000393752.2	-	2	1869	c.877T>A	c.(877-879)Tgc>Agc	p.C293S		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	293					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)	p.C293S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGCAAAATGCAGTTCAAGATG	0.458																																																	1	Substitution - Missense(1)	kidney(1)											67.0	68.0	68.0					5																	174869226		2203	4300	6503	SO:0001583	missense	1812			X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.877T>A	5.37:g.174869226A>T	ENSP00000377353:p.Cys293Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RA44|Q4QRJ0	Missense_Mutation	SNP	ENST00000393752.2	37	CCDS4393.1	.	.	.	.	.	.	.	.	.	.	A	17.22	3.333284	0.60853	.	.	ENSG00000184845	ENST00000393752;ENST00000329144	T	0.36340	1.26	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.54447	0.1859	L	0.52206	1.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56481	-0.7972	10	0.66056	D	0.02	.	14.7261	0.69346	1.0:0.0:0.0:0.0	.	293	P21728	DRD1_HUMAN	S	293	ENSP00000377353:C293S	ENSP00000327652:C293S	C	-	1	0	DRD1	174801832	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	9.157000	0.94714	2.144000	0.66660	0.528000	0.53228	TGC		0.458	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2		NM_000794	
DSCAM	1826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	41741148	41741148	+	Missense_Mutation	SNP	G	G	A	rs200160585		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr21:41741148G>A	ENST00000400454.1	-	4	1010	c.533C>T	c.(532-534)aCg>aTg	p.T178M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	178	Ig-like C2-type 2.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.T178M(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAAGGCTCCCGTGGATGTGAT	0.438																																					Melanoma(134;970 1778 1785 21664 32388)												1	Substitution - Missense(1)	kidney(1)											83.0	83.0	83.0					21																	41741148		1907	4123	6030	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.533C>T	21.37:g.41741148G>A	ENSP00000383303:p.Thr178Met	Somatic		WXS	Illumina HiSeq	Phase_I	O60468	Missense_Mutation	SNP	ENST00000400454.1	37	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050741	0.75960	.	.	ENSG00000171587	ENST00000400454	T	0.78246	-1.16	6.07	4.28	0.50868	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.112930	0.64402	N	0.000013	T	0.77329	0.4114	M	0.73962	2.25	0.43242	D	0.99515	B	0.34290	0.447	B	0.35182	0.197	T	0.76096	-0.3084	10	0.49607	T	0.09	.	13.1387	0.59423	0.1294:0.0:0.8706:0.0	.	178	O60469	DSCAM_HUMAN	M	178	ENSP00000383303:T178M	ENSP00000383303:T178M	T	-	2	0	DSCAM	40663018	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.840000	0.86819	0.910000	0.36722	0.655000	0.94253	ACG		0.438	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1		NM_001389	
ECT2	1894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	172502507	172502507	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:172502507C>G	ENST00000392692.3	+	17	1915	c.1739C>G	c.(1738-1740)gCa>gGa	p.A580G	ECT2_ENST00000540509.1_Missense_Mutation_p.A580G|ECT2_ENST00000417960.1_Missense_Mutation_p.A548G|ECT2_ENST00000232458.5_Missense_Mutation_p.A549G|ECT2_ENST00000441497.2_Missense_Mutation_p.A549G|ECT2_ENST00000427830.1_Missense_Mutation_p.A549G	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	580	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)	p.A549G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATAAACCAAGCAAAACCAGAA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											157.0	148.0	151.0					3																	172502507		2203	4300	6503	SO:0001583	missense	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1739C>G	3.37:g.172502507C>G	ENSP00000376457:p.Ala580Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	37	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409428	0.83340	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.78	5.78	0.91487	Guanine-nucleotide dissociation stimulator, CDC24, conserved site (1);Dbl homology (DH) domain (5);	0.152642	0.64402	D	0.000016	T	0.71409	0.3336	M	0.75447	2.3	0.80722	D	1	P;B;P;B;B	0.41848	0.763;0.242;0.721;0.321;0.321	P;B;B;B;B	0.46208	0.507;0.314;0.281;0.205;0.205	T	0.70781	-0.4779	10	0.41790	T	0.15	-19.9772	19.6059	0.95582	0.0:1.0:0.0:0.0	.	580;25;580;549;548	Q9H8V3;Q96SJ9;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.;.	G	549;580;549;548;549;580	ENSP00000232458:A549G;ENSP00000376457:A580G;ENSP00000401910:A549G;ENSP00000415876:A548G;ENSP00000412259:A549G;ENSP00000443160:A580G	ENSP00000232458:A549G	A	+	2	0	ECT2	173985201	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.314000	0.65804	2.738000	0.93877	0.591000	0.81541	GCA		0.363	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2		NM_018098	
AGO2	27161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141559351	141559352	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr8:141559351_141559352GC>CA	ENST00000220592.5	-	12	1561_1562	c.1449_1450GC>TG	c.(1447-1452)atGCcc>atTGcc	p.483_484MP>IA	AGO2_ENST00000519980.1_Missense_Mutation_p.483_484MP>IA	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	483					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)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|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)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)	p.M483I(1)|p.P484A(1)									CCCTGGATGGGCATGCCGGCGT	0.619																																																	2	Substitution - Missense(2)	kidney(2)																																								SO:0001583	missense	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1449_1450delinsCA	8.37:g.141559351_141559352delinsCA	ENSP00000220592:p.M483_P484delinsIA	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	ENST00000220592.5	37	CCDS6380.1																																																																																				0.619	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			
EIF3J	8669	broad.mit.edu	37	15	44829409	44829410	+	In_Frame_Ins	INS	-	-	ACT	rs539807309		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr15:44829409_44829410insACT	ENST00000535391.1	+	1	29_30	c.17_18insACT	c.(16-21)gcggcg>gcACTggcg	p.6_7AA>ALA	EIF3J_ENST00000261868.5_In_Frame_Ins_p.6_7AA>ALA|EIF3J-AS1_ENST00000313807.4_lincRNA|EIF3J_ENST00000424492.3_In_Frame_Ins_p.6_7AA>ALA					eukaryotic translation initiation factor 3, subunit J											endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		gcggcggcggcggcggcggGGG	0.708																																																	0										9,3779		2,5,1887						2.2	1.0			8	11,7731		3,5,3863	no	coding	EIF3J	NM_003758.2		5,10,5750	A1A1,A1R,RR		0.1421,0.2376,0.1735				20,11510				SO:0001652	inframe_insertion	8669			U97670	CCDS10111.1, CCDS61612.1, CCDS61613.1	15q21.1	2014-05-13	2007-07-27	2007-07-27	ENSG00000104131	ENSG00000104131			3270	protein-coding gene	gene with protein product		603910	"""eukaryotic translation initiation factor 3, subunit 1 alpha, 35kDa"""	EIF3S1		9822659	Standard	NM_001284335		Approved	eIF3-p35, eIF3-alpha, eIF3j	uc001ztv.3	O75822	OTTHUMG00000131158	Exception_encountered	15.37:g.44829409_44829410insACT	ENSP00000440221:p.Ala6_Ala7insLeu	Somatic		WXS	Illumina GAIIx	Phase_I		In_Frame_Ins	INS	ENST00000535391.1	37																																																																																					0.708	EIF3J-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000396804.1		NM_003758	
ENTHD1	150350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	40283658	40283658	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr22:40283658G>A	ENST00000325157.6	-	2	345	c.95C>T	c.(94-96)cCc>cTc	p.P32L		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	32	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.							p.P32L(1)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGAACTAGAGGGACCCCAAGG	0.403																																																	1	Substitution - Missense(1)	kidney(1)											107.0	107.0	107.0					22																	40283658		2203	4300	6503	SO:0001583	missense	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.95C>T	22.37:g.40283658G>A	ENSP00000317431:p.Pro32Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.418571	0.83559	.	.	ENSG00000176177	ENST00000325157	T	0.64438	-0.1	5.42	5.42	0.78866	Epsin domain, N-terminal (1);ENTH/VHS (2);Epsin-like, N-terminal (2);	0.000000	0.64402	D	0.000003	D	0.87006	0.6070	H	0.98295	4.195	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91368	0.5117	10	0.87932	D	0	-16.8875	14.7814	0.69769	0.0715:0.0:0.9285:0.0	.	32	Q8IYW4	ENTD1_HUMAN	L	32	ENSP00000317431:P32L	ENSP00000317431:P32L	P	-	2	0	ENTHD1	38613604	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.146000	0.58072	2.703000	0.92315	0.655000	0.94253	CCC		0.403	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1		NM_152512	
FAM186A	121006	hgsc.bcm.edu	37	12	50745783	50745783	+	Missense_Mutation	SNP	T	T	A	rs373687267		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:50745783T>A	ENST00000327337.5	-	4	4831	c.4832A>T	c.(4831-4833)cAg>cTg	p.Q1611L	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_Missense_Mutation_p.Q1611L	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1611								p.Q1611L(1)									AGGGATCCCCTGAGCCTGCGC	0.677																																					NSCLC(138;1796 1887 12511 19463 37884)												1	Substitution - Missense(1)	stomach(1)											12.0	11.0	12.0					12																	50745783		692	1590	2282	SO:0001583	missense	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.4832A>T	12.37:g.50745783T>A	ENSP00000329995:p.Gln1611Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000327337.5	37	CCDS44878.1	.	.	.	.	.	.	.	.	.	.	T	0.158	-1.083821	0.01888	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.04406	3.63;3.63	3.66	-7.33	0.01431	.	.	.	.	.	T	0.02230	0.0069	N	0.17082	0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.43180	-0.9407	9	0.12103	T	0.63	.	5.6207	0.17455	0.2461:0.2677:0.0:0.4862	.	1611;1611	F5GYN0;A6NE01	.;F186A_HUMAN	L	1611	ENSP00000441337:Q1611L;ENSP00000329995:Q1611L	ENSP00000329995:Q1611L	Q	-	2	0	FAM186A	49032050	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-8.288000	0.00022	-3.000000	0.00276	-1.250000	0.01514	CAG		0.677	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396838.1		XM_001718353	
FHL2	2274	broad.mit.edu;ucsc.edu	37	2	105977880	105977880	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:105977880T>C	ENST00000409807.1	-	6	1034	c.700A>G	c.(700-702)Aca>Gca	p.T234A	FHL2_ENST00000393352.3_Missense_Mutation_p.T234A|FHL2_ENST00000409177.1_Missense_Mutation_p.T350A|FHL2_ENST00000336660.5_3'UTR|FHL2_ENST00000408995.1_Missense_Mutation_p.T234A|FHL2_ENST00000322142.8_Missense_Mutation_p.T234A|FHL2_ENST00000393353.3_Missense_Mutation_p.T234A|FHL2_ENST00000358129.4_Missense_Mutation_p.T234A|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000344213.4_Missense_Mutation_p.T344A			Q14192	FHL2_HUMAN	four and a half LIM domains 2	234	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.T234A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						ATGTATTTTGTGCCACCAAGT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											98.0	84.0	89.0					2																	105977880		2203	4300	6503	SO:0001583	missense	2274				CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.700A>G	2.37:g.105977880T>C	ENSP00000386665:p.Thr234Ala	Somatic		WXS	Illumina GAIIx	Phase_I	Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	ENST00000409807.1	37	CCDS2070.1	.	.	.	.	.	.	.	.	.	.	T	5.681	0.310287	0.10733	.	.	ENSG00000115641	ENST00000409177;ENST00000344213;ENST00000393353;ENST00000393352;ENST00000322142;ENST00000358129;ENST00000409807;ENST00000408995	D;D;D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.33	5.33	0.75918	Zinc finger, LIM-type (5);	0.196267	0.53938	D	0.000059	T	0.65533	0.2700	N	0.01284	-0.91	0.80722	D	1	B;B;B;B	0.21225	0.0;0.0;0.053;0.0	B;B;B;B	0.28011	0.002;0.006;0.085;0.002	T	0.64618	-0.6365	10	0.06891	T	0.86	.	10.0382	0.42142	0.0:0.0757:0.0:0.9243	.	234;234;344;234	Q6I9R8;Q2I5I4;Q2XQU9;Q14192	.;.;.;FHL2_HUMAN	A	234;344;234;234;234;234;234;234	ENSP00000386892:T234A;ENSP00000344266:T344A;ENSP00000377021:T234A;ENSP00000377020:T234A;ENSP00000322909:T234A;ENSP00000350846:T234A;ENSP00000386665:T234A;ENSP00000386633:T234A	ENSP00000322909:T234A	T	-	1	0	FHL2	105344312	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.190000	0.58365	2.128000	0.65567	0.528000	0.53228	ACA		0.458	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			
FLAD1	80308	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154960848	154960848	+	Missense_Mutation	SNP	G	G	A	rs145054820	byFrequency	TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:154960848G>A	ENST00000292180.3	+	2	962	c.640G>A	c.(640-642)Ggg>Agg	p.G214R	FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000368432.1_Missense_Mutation_p.G117R|FLAD1_ENST00000368433.1_Missense_Mutation_p.G214R|FLAD1_ENST00000487371.1_3'UTR|FLAD1_ENST00000315144.10_Missense_Mutation_p.G117R|FLAD1_ENST00000295530.2_5'UTR|FLAD1_ENST00000368431.3_Missense_Mutation_p.G115R|FLAD1_ENST00000405236.2_Missense_Mutation_p.G115R	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	214					FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919)	p.G214R(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGCCCTAGGAGGGGAAGGCTG	0.562													G|||	9	0.00179712	0.0061	0.0	5008	,	,		19895	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						G	ARG/GLY,ARG/GLY,ARG/GLY,ARG/GLY	11,4395	17.9+/-39.9	0,11,2192	86.0	89.0	88.0		349,343,640,349	3.6	0.7	1	dbSNP_134	88	0,8600		0,0,4300	yes	missense,missense,missense,missense	FLAD1	NM_001184891.1,NM_001184892.1,NM_025207.4,NM_201398.2	125,125,125,125	0,11,6492	AA,AG,GG		0.0,0.2497,0.0846	probably-damaging,probably-damaging,probably-damaging,probably-damaging	117/447,115/295,214/588,117/491	154960848	11,12995	2203	4300	6503	SO:0001583	missense	80308				CCDS1078.1, CCDS1079.1, CCDS53371.1, CCDS53372.1	1q22	2013-03-05	2013-03-05		ENSG00000160688	ENSG00000160688	2.7.7.2		24671	protein-coding gene	gene with protein product		610595	"""Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)"", ""FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)"", ""flavin adenine dinucleotide synthetase"""				Standard	NM_001184891		Approved	PP591, FAD1	uc001fgf.2	Q8NFF5	OTTHUMG00000037416	ENST00000292180.3:c.640G>A	1.37:g.154960848G>A	ENSP00000292180:p.Gly214Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6	Missense_Mutation	SNP	ENST00000292180.3	37	CCDS1078.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	10.59	1.392807	0.25118	0.002497	0.0	ENSG00000160688	ENST00000368433;ENST00000315144;ENST00000368432;ENST00000368431;ENST00000292180;ENST00000405236	T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.57	3.58	0.41010	Molybdopterin binding (4);	0.165861	0.52532	N	0.000061	T	0.43389	0.1245	N	0.26162	0.8	0.19300	N	0.999975	B;B	0.13145	0.007;0.004	B;B	0.24006	0.05;0.006	T	0.36672	-0.9738	10	0.44086	T	0.13	-9.9802	5.0625	0.14564	0.2566:0.2637:0.4796:0.0	.	214;115	Q8NFF5;Q8NFF5-4	FAD1_HUMAN;.	R	214;117;117;115;214;115	ENSP00000357418:G214R;ENSP00000317296:G117R;ENSP00000357417:G117R;ENSP00000357416:G115R;ENSP00000292180:G214R;ENSP00000384323:G115R	ENSP00000292180:G214R	G	+	1	0	FLAD1	153227472	0.002000	0.14202	0.668000	0.29813	0.756000	0.42949	1.167000	0.31847	0.623000	0.30267	0.462000	0.41574	GGG		0.562	FLAD1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091089.1		NM_025207	
GAB2	9846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	77931466	77931466	+	Missense_Mutation	SNP	C	C	T	rs145573768		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:77931466C>T	ENST00000361507.4	-	9	1871	c.1786G>A	c.(1786-1788)Gtt>Att	p.V596I	GAB2_ENST00000340149.2_Missense_Mutation_p.V558I	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	596					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.V596I(1)	INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CCACTGGGAACGGGAGATGCA	0.562																																																	1	Substitution - Missense(1)	kidney(1)						C	ILE/VAL,ILE/VAL	2,4398	6.2+/-15.9	0,2,2198	82.0	78.0	79.0		1672,1786	1.4	0.7	11	dbSNP_134	79	0,8584		0,0,4292	no	missense,missense	GAB2	NM_012296.3,NM_080491.2	29,29	0,2,6490	TT,TC,CC		0.0,0.0455,0.0154	benign,benign	558/639,596/677	77931466	2,12982	2200	4292	6492	SO:0001583	missense	9846			AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.1786G>A	11.37:g.77931466C>T	ENSP00000354952:p.Val596Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRM2|A6NEW9|A7MD36|O60317	Missense_Mutation	SNP	ENST00000361507.4	37	CCDS8259.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.863725	0.32884	4.55E-4	0.0	ENSG00000033327	ENST00000340149;ENST00000361507	T;T	0.23754	1.89;1.89	5.61	1.42	0.22433	.	0.236850	0.34700	N	0.003748	T	0.20129	0.0484	L	0.50333	1.59	0.22511	N	0.999031	B	0.02656	0.0	B	0.04013	0.001	T	0.19778	-1.0295	10	0.29301	T	0.29	-1.7283	8.3525	0.32310	0.0:0.5517:0.0:0.4483	.	596	Q9UQC2	GAB2_HUMAN	I	558;596	ENSP00000343959:V558I;ENSP00000354952:V596I	ENSP00000343959:V558I	V	-	1	0	GAB2	77609114	0.920000	0.31207	0.685000	0.30070	0.961000	0.63080	1.853000	0.39358	0.053000	0.16036	-0.136000	0.14681	GTT		0.562	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1		NM_080491	
GBA	2629	broad.mit.edu;hgsc.bcm.edu	37	1	155205090	155205090	+	Silent	SNP	A	A	T	rs144322275		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:155205090A>T	ENST00000327247.5	-	11	1633	c.1401T>A	c.(1399-1401)ccT>ccA	p.P467P	AL713999.1_ENST00000401290.1_RNA|GBA_ENST00000368373.3_Silent_p.P467P|GBA_ENST00000536770.1_Silent_p.P354P|GBA_ENST00000493842.1_5'Flank|GBA_ENST00000428024.3_Silent_p.P380P|GBA_ENST00000427500.3_Silent_p.P418P	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	467					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)	glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102)	p.P467P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Velaglucerase alfa(DB06720)	GGGAGCCCTCAGGAATGAACT	0.577									Gaucher disease type I																																								1	Substitution - coding silent(1)	kidney(1)											41.0	38.0	39.0					1																	155205090		2203	4297	6500	SO:0001819	synonymous_variant	2629	Familial Cancer Database	glucocerebrosidase insufficiency	M19285	CCDS1102.1, CCDS53373.1, CCDS53374.1	1q22	2010-01-19	2010-01-19		ENSG00000177628	ENSG00000177628	3.2.1.21		4177	protein-coding gene	gene with protein product		606463	"""glucosylceramidase"", ""glucosidase, beta; acid (includes glucosylceramidase)"""	GLUC		3359914	Standard	NM_001005742		Approved	GBA1	uc001fjl.3	P04062	OTTHUMG00000035841	ENST00000327247.5:c.1401T>A	1.37:g.155205090A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8	Silent	SNP	ENST00000327247.5	37	CCDS1102.1																																																																																				0.577	GBA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087204.1		NM_000157	
GCC2	9648	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	109100625	109100625	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:109100625G>C	ENST00000309863.6	+	13	4185	c.3471G>C	c.(3469-3471)ttG>ttC	p.L1157F		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1157					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)	p.L1157F(1)		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						AAACCACATTGATGAATATGG	0.269																																																	1	Substitution - Missense(1)	kidney(1)											51.0	55.0	54.0					2																	109100625		2203	4286	6489	SO:0001583	missense	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.3471G>C	2.37:g.109100625G>C	ENSP00000307939:p.Leu1157Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817476	0.70912	.	.	ENSG00000135968	ENST00000309863	T	0.44482	0.92	5.76	2.85	0.33270	.	0.000000	0.64402	D	0.000004	T	0.58495	0.2126	M	0.69823	2.125	0.47698	D	0.999498	D	0.89917	1.0	D	0.85130	0.997	T	0.55360	-0.8153	10	0.56958	D	0.05	.	8.0978	0.30840	0.1492:0.1296:0.7212:0.0	.	1157	Q8IWJ2	GCC2_HUMAN	F	1157	ENSP00000307939:L1157F	ENSP00000307939:L1157F	L	+	3	2	GCC2	108467057	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	2.060000	0.41394	0.295000	0.22570	0.591000	0.81541	TTG		0.269	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3		NM_014635	
HERC3	8916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	89607937	89607937	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr4:89607937T>A	ENST00000402738.1	+	22	2797	c.2558T>A	c.(2557-2559)tTc>tAc	p.F853Y	RNU6-33P_ENST00000384793.1_RNA|HERC3_ENST00000264345.3_Missense_Mutation_p.F853Y|HERC3_ENST00000543130.1_Missense_Mutation_p.F297Y	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	853					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.F853Y(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		GAGGAGACTTTCTGCCTCAAC	0.418																																																	1	Substitution - Missense(1)	kidney(1)											118.0	108.0	111.0					4																	89607937		2203	4300	6503	SO:0001583	missense	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.2558T>A	4.37:g.89607937T>A	ENSP00000385684:p.Phe853Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1S5|Q8IXX3	Missense_Mutation	SNP	ENST00000402738.1	37	CCDS34028.1	.	.	.	.	.	.	.	.	.	.	T	28.4	4.920857	0.92249	.	.	ENSG00000138641	ENST00000402738;ENST00000264345;ENST00000543130;ENST00000512194	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	4.98	4.98	0.66077	HECT (4);	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71474	-0.4582	10	0.66056	D	0.02	.	14.8428	0.70237	0.0:0.0:0.0:1.0	.	853	Q15034	HERC3_HUMAN	Y	853;853;297;246	ENSP00000385684:F853Y;ENSP00000264345:F853Y;ENSP00000441703:F297Y;ENSP00000421021:F246Y	ENSP00000264345:F853Y	F	+	2	0	HERC3	89826960	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.622000	0.83099	2.086000	0.62901	0.533000	0.62120	TTC		0.418	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318081.2		NM_014606	
HLF	3131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	53345220	53345220	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:53345220C>T	ENST00000226067.5	+	2	697	c.224C>T	c.(223-225)cCc>cTc	p.P75L	HLF_ENST00000575345.1_5'UTR|HLF_ENST00000573945.1_5'UTR|HLF_ENST00000430986.2_5'UTR	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	75					multicellular organismal development (GO:0007275)|rhythmic process (GO:0048511)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P75L(1)		large_intestine(1)|ovary(2)	3						AAAACCCTTCCCTATGACGGA	0.507			T	TCF3	ALL																																			Dom	yes		17	17q22	3131	hepatic leukemia factor		L	1	Substitution - Missense(1)	kidney(1)											113.0	110.0	111.0					17																	53345220		2203	4300	6503	SO:0001583	missense	3131				CCDS11585.1	17q22	2011-05-19			ENSG00000108924	ENSG00000108924			4977	protein-coding gene	gene with protein product		142385				1386162	Standard	XM_005257269		Approved	MGC33822	uc002iug.1	Q16534		ENST00000226067.5:c.224C>T	17.37:g.53345220C>T	ENSP00000226067:p.Pro75Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1X8|Q6FHS9	Missense_Mutation	SNP	ENST00000226067.5	37	CCDS11585.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017946	0.93404	.	.	ENSG00000108924	ENST00000226067	.	.	.	5.46	5.46	0.80206	.	0.064515	0.64402	D	0.000006	T	0.76399	0.3982	M	0.82193	2.58	0.80722	D	1	D	0.59767	0.986	P	0.53266	0.722	T	0.80367	-0.1412	9	0.87932	D	0	.	18.4604	0.90736	0.0:1.0:0.0:0.0	.	75	Q16534	HLF_HUMAN	L	75	.	ENSP00000226067:P75L	P	+	2	0	HLF	50700219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.320000	0.79064	2.843000	0.97960	0.655000	0.94253	CCC		0.507	HLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439185.1		NM_002126	
IGSF9B	22997	broad.mit.edu	37	11	133789678	133789678	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:133789678C>T	ENST00000321016.8	-	18	4172	c.3942G>A	c.(3940-3942)ttG>ttA	p.L1314L	IGSF9B_ENST00000533871.2_Silent_p.L1314L			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1314	Pro-rich.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.L770L(1)|p.L1314L(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CCGGTCGGAGCAATTCCTCCC	0.682																																																	2	Substitution - coding silent(2)	kidney(2)											16.0	20.0	19.0					11																	133789678		2002	4155	6157	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.3942G>A	11.37:g.133789678C>T		Somatic		WXS	Illumina GAIIx	Phase_I	G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																					0.682	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			XM_290502	
INPP4A	3631	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	99155379	99155379	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:99155379T>G	ENST00000523221.1	+	7	605	c.605T>G	c.(604-606)tTg>tGg	p.L202W	INPP4A_ENST00000074304.5_Missense_Mutation_p.L202W|INPP4A_ENST00000409016.4_Missense_Mutation_p.L202W|INPP4A_ENST00000545415.1_Missense_Mutation_p.L202W|INPP4A_ENST00000409851.3_Missense_Mutation_p.L202W|INPP4A_ENST00000409540.3_Missense_Mutation_p.L202W|INPP4A_ENST00000409463.1_Intron			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	202					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.L202W(2)		breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						GATGAGAGCTTGACGGAGGCG	0.443																																																	2	Substitution - Missense(2)	kidney(2)											99.0	92.0	94.0					2																	99155379		1966	4161	6127	SO:0001583	missense	3631			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.605T>G	2.37:g.99155379T>G	ENSP00000427722:p.Leu202Trp	Somatic		WXS	Illumina HiSeq	Phase_I	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	ENST00000523221.1	37	CCDS46369.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.166910	0.78339	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.55513	0.1925	M	0.64997	1.995	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.975;0.989;0.989	D;P;P;P	0.66847	0.947;0.688;0.839;0.839	T	0.58781	-0.7576	10	0.66056	D	0.02	-1.9384	14.2247	0.65850	0.0:0.0:0.0:1.0	.	202;202;202;202	Q96PE3-2;Q96PE3-4;Q96PE3;Q96PE3-3	.;.;INP4A_HUMAN;.	W	202	ENSP00000386704:L202W;ENSP00000386777:L202W;ENSP00000074304:L202W;ENSP00000442149:L202W;ENSP00000387294:L202W;ENSP00000427722:L202W	ENSP00000074304:L202W	L	+	2	0	INPP4A	98521811	1.000000	0.71417	1.000000	0.80357	0.522000	0.34438	7.789000	0.85783	2.143000	0.66587	0.477000	0.44152	TTG		0.443	INPP4A-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376095.1		NM_001566	
KDM5B	10765	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	202725626	202725626	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:202725626C>A	ENST00000367265.3	-	10	2380	c.1216G>T	c.(1216-1218)Gtt>Ttt	p.V406F	KDM5B_ENST00000367264.2_Missense_Mutation_p.V442F|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	406					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.V406F(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TCTTTCTCAACAAGCTCTGTG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											86.0	80.0	82.0					1																	202725626		2203	4300	6503	SO:0001583	missense	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1216G>T	1.37:g.202725626C>A	ENSP00000356234:p.Val406Phe	Somatic		WXS	Illumina HiSeq	Phase_I	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	34	5.295113	0.95574	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	D;D;D	0.89123	-2.36;-2.16;-2.47	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.95900	0.8665	M	0.90595	3.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.985	D	0.95856	0.8879	10	0.87932	D	0	-22.8712	20.422	0.99049	0.0:1.0:0.0:0.0	.	442;406	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	F	406;248;442;248	ENSP00000356234:V406F;ENSP00000356233:V442F;ENSP00000235790:V248F	ENSP00000235790:V248F	V	-	1	0	KDM5B	200992249	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	GTT		0.418	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2		NM_006618	
IST1	9798	broad.mit.edu;hgsc.bcm.edu	37	16	71951006	71951006	+	Missense_Mutation	SNP	G	G	A	rs546798417		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:71951006G>A	ENST00000378799.6	+	4	682	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	IST1_ENST00000329908.8_Missense_Mutation_p.R109Q|IST1_ENST00000378798.5_Missense_Mutation_p.R109Q|IST1_ENST00000544564.1_Missense_Mutation_p.R109Q|IST1_ENST00000541571.2_Missense_Mutation_p.R109Q|RP11-498D10.5_ENST00000567146.1_RNA|IST1_ENST00000606369.1_Intron|IST1_ENST00000535424.1_Missense_Mutation_p.R122Q|IST1_ENST00000538565.1_Intron|IST1_ENST00000538850.1_Intron			P53990	IST1_HUMAN	increased sodium tolerance 1 homolog (yeast)	109	Interaction with CHMP1A and CHMP1B.|Interaction with VPS37B.				abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis (GO:0000910)|establishment of protein localization (GO:0045184)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of proteolysis (GO:0045862)|protein localization (GO:0008104)|viral capsid secondary envelopment (GO:0046745)|viral release from host cell (GO:0019076)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|midbody (GO:0030496)	MIT domain binding (GO:0090541)|protein complex binding (GO:0032403)|protein domain specific binding (GO:0019904)	p.R109Q(1)									GCTGCTCCTCGACTCCAGTCA	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		19443	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	kidney(1)											80.0	79.0	80.0					16																	71951006		2198	4299	6497	SO:0001583	missense	0			BC004359	CCDS10905.1, CCDS59271.1, CCDS59272.1, CCDS59273.1, CCDS59274.1	16q22.2	2011-08-18	2011-08-18	2011-08-18	ENSG00000182149	ENSG00000182149			28977	protein-coding gene	gene with protein product			"""KIAA0174"""	KIAA0174		8724849, 19129480	Standard	NM_001270975		Approved		uc002fbm.2	P53990	OTTHUMG00000137597	ENST00000378799.6:c.326G>A	16.37:g.71951006G>A	ENSP00000368076:p.Arg109Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8KAH5|J3QLU7|Q3SYM4|Q9BQ81|Q9BWN2	Missense_Mutation	SNP	ENST00000378799.6	37	CCDS59272.1	.	.	.	.	.	.	.	.	.	.	G	37	6.029960	0.97216	.	.	ENSG00000182149	ENST00000535424;ENST00000378799;ENST00000424485;ENST00000329908;ENST00000378798;ENST00000456820	.	.	.	5.92	5.92	0.95590	Domain of unknown function DUF292, eukaryotic (1);	0.000000	0.85682	D	0.000000	D	0.86703	0.5996	M	0.92026	3.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.994;0.993;0.999	D	0.88464	0.3057	9	0.87932	D	0	-3.3007	20.3343	0.98733	0.0:0.0:1.0:0.0	.	109;109;109;122	P53990;P53990-2;P53990-3;A8KAH5	IST1_HUMAN;.;.;.	Q	122;109;109;109;109;47	.	ENSP00000330408:R109Q	R	+	2	0	KIAA0174	70508507	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.823000	0.99369	2.822000	0.97130	0.650000	0.86243	CGA		0.363	IST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269005.2		NM_014761	
KANSL3	55683	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	97285435	97285435	+	Silent	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:97285435G>T	ENST00000431828.1	-	4	527	c.451C>A	c.(451-453)Cgg>Agg	p.R151R	KANSL3_ENST00000487070.1_Intron|KANSL3_ENST00000440133.1_Intron|KANSL3_ENST00000435669.1_Silent_p.R64R|KANSL3_ENST00000599854.1_Silent_p.R64R|KANSL3_ENST00000441706.2_Silent_p.R64R			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	151					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.R151R(1)									CGGGCAAGCCGGTCAGACTGC	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											31.0	33.0	33.0					2																	97285435		1936	4135	6071	SO:0001819	synonymous_variant	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.451C>A	2.37:g.97285435G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Silent	SNP	ENST00000431828.1	37	CCDS46361.1																																																																																				0.542	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2		NM_017991	
ATP5C1	509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	7829795	7829795	+	5'Flank	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr10:7829795C>T	ENST00000356708.7	+	0	0				KIN_ENST00000543003.1_De_novo_Start_OutOfFrame|ATP5C1_ENST00000335698.4_5'Flank|KIN_ENST00000535925.1_Silent_p.Q34Q|KIN_ENST00000379562.4_Silent_p.Q34Q|ATP5C1_ENST00000541227.1_5'Flank	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1						ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)	p.Q34Q(1)		breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						CGTCCCGGCACTGCTTCTGGC	0.637																																					Melanoma(143;1012 1820 16249 30920 33158)												1	Substitution - coding silent(1)	kidney(1)											98.0	99.0	99.0					10																	7829795		2203	4300	6503	SO:0001631	upstream_gene_variant	22944			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639		10.37:g.7829795C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Silent	SNP	ENST00000356708.7	37	CCDS31142.1																																																																																				0.637	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1		NM_005174	
KLHL17	339451	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	900441	900441	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:900441G>A	ENST00000338591.3	+	12	1906	c.1799G>A	c.(1798-1800)aGg>aAg	p.R600K	PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank	NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	600	Interaction with F-actin. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein complex scaffold (GO:0032947)	p.R600K(1)		central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TACAACCCGAGGACCAACAAG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											141.0	105.0	117.0					1																	900441		2202	4299	6501	SO:0001583	missense	339451			AY423763	CCDS30550.1	1p36	2013-01-30	2013-01-30		ENSG00000187961	ENSG00000187961		"""Kelch-like"", ""BTB/POZ domain containing"""	24023	protein-coding gene	gene with protein product	"""actinfilin"""		"""kelch-like 17 (Drosophila)"""			12063253	Standard	NM_198317		Approved		uc001aca.2	Q6TDP4	OTTHUMG00000040721	ENST00000338591.3:c.1799G>A	1.37:g.900441G>A	ENSP00000343930:p.Arg600Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SV94	Missense_Mutation	SNP	ENST00000338591.3	37	CCDS30550.1	.	.	.	.	.	.	.	.	.	.	G	12.11	1.839752	0.32513	.	.	ENSG00000187961	ENST00000338591;ENST00000455747	T	0.77358	-1.09	5.82	4.85	0.62838	Galactose oxidase, beta-propeller (1);	0.111513	0.64402	D	0.000013	T	0.66396	0.2785	N	0.24115	0.695	0.80722	D	1	P	0.37573	0.6	B	0.39503	0.301	T	0.62671	-0.6805	10	0.15499	T	0.54	.	15.7091	0.77609	0.0:0.0:0.8626:0.1374	.	600	Q6TDP4	KLH17_HUMAN	K	600;476	ENSP00000343930:R600K	ENSP00000343930:R600K	R	+	2	0	KLHL17	890304	1.000000	0.71417	0.989000	0.46669	0.995000	0.86356	4.675000	0.61619	2.756000	0.94617	0.561000	0.74099	AGG		0.632	KLHL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097875.3		NM_198317	
KRT2	3849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53043743	53043743	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:53043743G>A	ENST00000309680.3	-	3	837	c.816C>T	c.(814-816)atC>atT	p.I272I		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	272	Coil 1B.|Rod.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte activation (GO:0032980)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.I272I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TGCGCTTATTGATTTCATCCT	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											162.0	144.0	150.0					12																	53043743		2203	4300	6503	SO:0001819	synonymous_variant	3849				CCDS8835.1	12q13.13	2013-01-16	2008-08-01	2006-07-17	ENSG00000172867	ENSG00000172867		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6439	protein-coding gene	gene with protein product	"""epidermal ichthyosis bullosa of Siemens"""	600194	"""keratin 2A (epidermal ichthyosis bullosa of Siemens)"""	KRT2A		7524919, 16831889	Standard	NM_000423		Approved	KRTE	uc001sat.3	P35908	OTTHUMG00000169748	ENST00000309680.3:c.816C>T	12.37:g.53043743G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q4VAQ2	Silent	SNP	ENST00000309680.3	37	CCDS8835.1																																																																																				0.438	KRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405704.1		NM_000423	
LIPI	149998	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	15579141	15579141	+	Intron	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr21:15579141C>T	ENST00000536861.1	-	1	46				LIPI_ENST00000344577.2_Missense_Mutation_p.R35K			Q6XZB0	LIPI_HUMAN	lipase, member I						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.R35K(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		attacctgatctcaggcacac	0.358																																																	1	Substitution - Missense(1)	kidney(1)											67.0	69.0	68.0					21																	15579141		2203	4300	6503	SO:0001627	intron_variant	149998			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.46+3979G>A	21.37:g.15579141C>T		Somatic		WXS	Illumina HiSeq	Phase_I	G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	ENST00000536861.1	37		.	.	.	.	.	.	.	.	.	.	C	0.087	-1.173406	0.01646	.	.	ENSG00000188992	ENST00000344577	D	0.90844	-2.74	2.38	-0.75	0.11080	.	1.266950	0.05150	N	0.495868	T	0.77671	0.4165	N	0.19112	0.55	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.64592	-0.6371	10	0.05721	T	0.95	.	0.8341	0.01136	0.2385:0.367:0.2347:0.1599	.	35	Q6XZB0-2	.	K	35	ENSP00000343331:R35K	ENSP00000343331:R35K	R	-	2	0	LIPI	14501012	0.001000	0.12720	0.000000	0.03702	0.376000	0.30014	0.477000	0.22196	-0.203000	0.10251	0.514000	0.50259	AGA		0.358	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_198996	
LXN	56925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	158387254	158387254	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:158387254A>G	ENST00000264265.3	-	3	552	c.338T>C	c.(337-339)aTg>aCg	p.M113T	GFM1_ENST00000264263.5_Intron|GFM1_ENST00000478576.1_Intron|GFM1_ENST00000486715.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	113	Alpha-helical linker. {ECO:0000250}.				detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|metalloendopeptidase inhibitor activity (GO:0008191)	p.M113T(1)		breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CGGTTCCTTCATGGACTTAAG	0.348																																																	1	Substitution - Missense(1)	kidney(1)											113.0	108.0	110.0					3																	158387254		2203	4300	6503	SO:0001583	missense	56925			AF087851	CCDS3183.1	3q25.32	2004-05-10			ENSG00000079257	ENSG00000079257			13347	protein-coding gene	gene with protein product		609305					Standard	NM_020169		Approved		uc003fch.3	Q9BS40	OTTHUMG00000158807	ENST00000264265.3:c.338T>C	3.37:g.158387254A>G	ENSP00000264265:p.Met113Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q96PN2|Q9NQS6	Missense_Mutation	SNP	ENST00000264265.3	37	CCDS3183.1	.	.	.	.	.	.	.	.	.	.	A	8.345	0.829533	0.16749	.	.	ENSG00000079257	ENST00000264265	T	0.21361	2.01	5.13	1.36	0.22044	.	0.609510	0.18776	N	0.131470	T	0.17874	0.0429	L	0.57536	1.79	0.24380	N	0.994792	B	0.28880	0.226	B	0.31442	0.13	T	0.27773	-1.0064	10	0.17832	T	0.49	-4.081	6.539	0.22370	0.739:0.1311:0.1299:0.0	.	113	Q9BS40	LXN_HUMAN	T	113	ENSP00000264265:M113T	ENSP00000264265:M113T	M	-	2	0	LXN	159869948	1.000000	0.71417	0.971000	0.41717	0.855000	0.48748	1.028000	0.30128	0.003000	0.14656	0.528000	0.53228	ATG		0.348	LXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352284.1		NM_020169	
MAN2C1	4123	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	75648339	75648339	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr15:75648339G>T	ENST00000267978.5	-	26	3077	c.3031C>A	c.(3031-3033)Cac>Aac	p.H1011N	RP11-817O13.6_ENST00000563660.1_lincRNA|MAN2C1_ENST00000563622.1_Missense_Mutation_p.H912N|MAN2C1_ENST00000569482.1_Missense_Mutation_p.H988N|MIR631_ENST00000384904.1_RNA|MAN2C1_ENST00000565683.1_Missense_Mutation_p.H1028N	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	1011					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)	p.H1011N(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGGTCAAGTGGCCAGCAGGG	0.627																																																	1	Substitution - Missense(1)	kidney(1)											79.0	73.0	75.0					15																	75648339		2197	4294	6491	SO:0001583	missense	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.3031C>A	15.37:g.75648339G>T	ENSP00000267978:p.His1011Asn	Somatic		WXS	Illumina HiSeq	Phase_I	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.614081	0.28712	.	.	ENSG00000140400	ENST00000267978	T	0.77620	-1.11	4.56	3.64	0.41730	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.320719	0.29314	N	0.012505	T	0.62551	0.2437	L	0.28556	0.865	0.29640	N	0.844769	B;B	0.30937	0.301;0.301	B;B	0.26693	0.072;0.072	T	0.54549	-0.8277	10	0.17832	T	0.49	-6.9747	11.149	0.48447	0.0915:0.0:0.9085:0.0	.	988;1011	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	N	1011	ENSP00000267978:H1011N	ENSP00000267978:H1011N	H	-	1	0	MAN2C1	73435392	0.691000	0.27709	0.871000	0.34182	0.194000	0.23727	1.347000	0.33975	0.919000	0.36945	0.462000	0.41574	CAC		0.627	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1			
MARCH10	162333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	60814440	60814441	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:60814440_60814441CC>AG	ENST00000311269.5	-	6	1062_1063	c.788_789GG>CT	c.(787-789)gGG>gCT	p.G263A	MARCH10_ENST00000544856.2_Missense_Mutation_p.G262A|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000583600.1_Missense_Mutation_p.G301A|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.G263A	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	263					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.G263G(1)|p.G263A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CCTTTCTTGGCCCTCCTACAGT	0.485																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.788_789delinsAG	17.37:g.60814440_60814441delinsAG	ENSP00000311496:p.Gly263Ala	Somatic		WXS	Illumina HiSeq	Phase_I	D3DU09|Q8IYS7|Q8N7Z7	Silent|Missense_Mutation	SNP	ENST00000311269.5	37	CCDS11635.1																																																																																				0.485	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445252.1		NM_152598	
MARS	4141	broad.mit.edu;hgsc.bcm.edu	37	12	57881962	57881962	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:57881962T>A	ENST00000262027.5	+	1	223	c.89T>A	c.(88-90)aTc>aAc	p.I30N	ARHGAP9_ENST00000393797.2_Intron|MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_5'UTR|ARHGAP9_ENST00000550288.1_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	30					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)	p.I30N(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GAGGTGCTCATCAGCACTGTA	0.647																																																	1	Substitution - Missense(1)	kidney(1)											69.0	74.0	72.0					12																	57881962		2203	4300	6503	SO:0001583	missense	4141			X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.89T>A	12.37:g.57881962T>A	ENSP00000262027:p.Ile30Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Missense_Mutation	SNP	ENST00000262027.5	37	CCDS8942.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.412723	0.83340	.	.	ENSG00000166986	ENST00000262027	T	0.76448	-1.02	4.43	4.43	0.53597	.	0.498045	0.22458	N	0.059789	T	0.69024	0.3065	L	0.29908	0.895	0.80722	D	1	P;B	0.35844	0.524;0.21	B;B	0.38194	0.267;0.125	T	0.72798	-0.4184	10	0.66056	D	0.02	-11.3114	12.2632	0.54663	0.0:0.0:0.0:1.0	.	30;30	B4E0E9;P56192	.;SYMC_HUMAN	N	30	ENSP00000262027:I30N	ENSP00000262027:I30N	I	+	2	0	MARS	56168229	0.999000	0.42202	1.000000	0.80357	0.882000	0.50991	3.928000	0.56506	1.960000	0.56953	0.397000	0.26171	ATC		0.647	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1		NM_004990	
MBD1	4152	hgsc.bcm.edu;ucsc.edu	37	18	47799227	47799227	+	Silent	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr18:47799227T>A	ENST00000591416.1	-	14	2114	c.1683A>T	c.(1681-1683)ccA>ccT	p.P561P	MBD1_ENST00000353909.3_Silent_p.P512P|MBD1_ENST00000269471.5_Silent_p.P492P|MBD1_ENST00000585595.1_Silent_p.P586P|MBD1_ENST00000590208.1_Silent_p.P561P|MBD1_ENST00000347968.3_Silent_p.P505P|MBD1_ENST00000585672.1_Silent_p.P511P|MBD1_ENST00000591535.1_Silent_p.P492P|MBD1_ENST00000424334.2_Silent_p.P612P|MBD1_ENST00000588937.1_Silent_p.P492P|MBD1_ENST00000436910.1_Silent_p.P492P|MBD1_ENST00000269468.5_Silent_p.P561P|MBD1_ENST00000349085.2_Silent_p.P459P|MBD1_ENST00000398493.1_Silent_p.P505P|MBD1_ENST00000587605.1_Silent_p.P459P|MBD1_ENST00000339998.6_Silent_p.P515P|MBD1_ENST00000382948.5_Silent_p.P561P|MBD1_ENST00000398495.2_Silent_p.P530P|MBD1_ENST00000457839.2_Silent_p.P586P|MBD1_ENST00000398488.1_Silent_p.P459P			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	561	TRD.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CCTCTTCCTCTGGGGCCAATT	0.602																																																	0													110.0	110.0	110.0					18																	47799227		2203	4300	6503	SO:0001819	synonymous_variant	4152			Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1683A>T	18.37:g.47799227T>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	Silent	SNP	ENST00000591416.1	37	CCDS11943.1																																																																																				0.602	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3		NM_015846	
MED4	29079	broad.mit.edu	37	13	48669155	48669155	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr13:48669155C>T	ENST00000258648.2	-	1	85	c.60G>A	c.(58-60)gtG>gtA	p.V20V	MED4_ENST00000378586.1_Intron	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	20					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.V20V(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TACCACCCGCCACTCCCAAAC	0.652											OREG0022406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(38;399 1016 9170 13426 20145)												1	Substitution - coding silent(1)	kidney(1)											44.0	36.0	39.0					13																	48669155		2203	4300	6503	SO:0001819	synonymous_variant	29079			AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.60G>A	13.37:g.48669155C>T		Somatic	956	WXS	Illumina GAIIx	Phase_I	B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Silent	SNP	ENST00000258648.2	37	CCDS9408.1																																																																																				0.652	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1		NM_014166	
MPO	4353	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56349016	56349016	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:56349016C>T	ENST00000225275.3	-	11	2206	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	MPO_ENST00000340482.3_Splice_Site_p.R709Q	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	677					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.R677Q(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CCCTCCTCACCGATCACCATC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											34.0	35.0	35.0					17																	56349016		2203	4300	6503	SO:0001630	splice_region_variant	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.2030+1G>A	17.37:g.56349016C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	36	5.792702	0.96945	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.78246	-1.16;-1.16	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95664	0.8718	9	.	.	.	-27.0689	18.2607	0.90034	0.0:1.0:0.0:0.0	.	677	P05164	PERM_HUMAN	Q	709;677	ENSP00000344419:R709Q;ENSP00000225275:R677Q	.	R	-	2	0	MPO	53704015	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	7.797000	0.85911	2.561000	0.86390	0.563000	0.77884	CGG		0.642	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			Missense_Mutation
MRGPRX3	117195	broad.mit.edu;hgsc.bcm.edu	37	11	18159570	18159570	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:18159570T>A	ENST00000396275.2	+	3	1182	c.821T>A	c.(820-822)tTc>tAc	p.F274Y		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	274						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F274Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATTTACTTCTTCGTGGGCTCC	0.507																																																	1	Substitution - Missense(1)	kidney(1)											69.0	72.0	71.0					11																	18159570		2200	4290	6490	SO:0001583	missense	117195				CCDS7830.1	11p15.1	2013-10-10			ENSG00000179826	ENSG00000179826		"""GPCR / Class A : Orphans"""	17980	protein-coding gene	gene with protein product		607229				11551509	Standard	NM_054031		Approved	MRGX3	uc001mnu.3	Q96LB0	OTTHUMG00000166435	ENST00000396275.2:c.821T>A	11.37:g.18159570T>A	ENSP00000379571:p.Phe274Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	B0M0L1|Q8TDE0|Q8TDE1	Missense_Mutation	SNP	ENST00000396275.2	37	CCDS7830.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.941044	0.73557	.	.	ENSG00000179826	ENST00000396275	T	0.41758	0.99	1.37	1.37	0.22104	.	0.357134	0.25607	N	0.029507	T	0.61874	0.2382	M	0.87827	2.91	0.25979	N	0.982394	D	0.76494	0.999	D	0.74023	0.982	T	0.50808	-0.8784	10	0.72032	D	0.01	.	6.8816	0.24177	0.0:0.0:0.0:1.0	.	274	Q96LB0	MRGX3_HUMAN	Y	274	ENSP00000379571:F274Y	ENSP00000379571:F274Y	F	+	2	0	MRGPRX3	18116146	0.989000	0.36119	0.980000	0.43619	0.382000	0.30200	3.603000	0.54074	0.904000	0.36572	0.338000	0.21704	TTC		0.507	MRGPRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389767.1		NM_054031	
MUTYH	4595	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	45796197	45796197	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:45796197delC	ENST00000372098.3	-	15	1633	c.1500delG	c.(1498-1500)gggfs	p.G500fs	MUTYH_ENST00000448481.1_Frame_Shift_Del_p.G486fs|MUTYH_ENST00000528013.2_Frame_Shift_Del_p.G489fs|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.G170fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.G475fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.G184fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.G170fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.G475fs|MUTYH_ENST00000450313.1_Frame_Shift_Del_p.G503fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.G475fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.G486fs|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.G476fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.G489fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.G490fs			Q9UIF7	MUTYH_HUMAN	mutY homolog	500			G -> E (in dbSNP:rs3219494). {ECO:0000269|Ref.4}.		base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CCATACAGGTCCCTGGCTGTT	0.507			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																														yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													84.0	72.0	76.0					1																	45796197		2203	4300	6503	SO:0001589	frameshift_variant	4595	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.1500delG	1.37:g.45796197delC	ENSP00000361170:p.Gly500fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Frame_Shift_Del	DEL	ENST00000372098.3	37	CCDS520.1																																																																																				0.507	MUTYH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000020529.1		NM_012222	
MXRA5	25878	broad.mit.edu;hgsc.bcm.edu	37	X	3235733	3235733	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chrX:3235733G>A	ENST00000217939.6	-	6	6143	c.5989C>T	c.(5989-5991)Ccc>Tcc	p.P1997S		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1997	Ig-like C2-type 4.					extracellular vesicular exosome (GO:0070062)		p.P1997S(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCCTCCACGGGGGACACAGTT	0.592																																																	2	Substitution - Missense(2)	kidney(2)											48.0	45.0	46.0					X																	3235733		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.5989C>T	X.37:g.3235733G>A	ENSP00000217939:p.Pro1997Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	3.350	-0.132656	0.06753	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.77620	-1.11	3.55	-0.11	0.13580	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.240076	0.20613	U	0.088927	T	0.50650	0.1628	N	0.05124	-0.11	0.09310	N	1	P	0.42735	0.788	P	0.45167	0.472	T	0.50750	-0.8791	10	0.12103	T	0.63	.	1.0331	0.01542	0.1315:0.2452:0.271:0.3523	.	1997	Q9NR99	MXRA5_HUMAN	S	1997	ENSP00000217939:P1997S	ENSP00000217939:P1997S	P	-	1	0	MXRA5	3245733	0.000000	0.05858	0.481000	0.27354	0.042000	0.13812	0.306000	0.19279	-0.007000	0.14345	-0.236000	0.12185	CCC		0.592	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2		NM_015419	
MYH11	4629	broad.mit.edu;ucsc.edu	37	16	15826565	15826565	+	Splice_Site	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:15826565C>G	ENST00000300036.5	-	27	3616	c.3507G>C	c.(3505-3507)agG>agC	p.R1169S	MYH11_ENST00000452625.2_Splice_Site_p.R1176S|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_Splice_Site_p.R1176S|MYH11_ENST00000576790.2_Splice_Site_p.R1169S	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1169					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.R1169S(1)|p.R1176S(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						CCCTCTTGGCCCTTGGTGGGA	0.582			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	2	Substitution - Missense(2)	kidney(2)											119.0	85.0	96.0					16																	15826565		2197	4300	6497	SO:0001630	splice_region_variant	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.3507-1G>C	16.37:g.15826565C>G		Somatic		WXS	Illumina GAIIx	Phase_I	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262521	0.39995	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12	4.94	-3.09	0.05331	Myosin tail (1);	0.000000	0.85682	D	0.000000	D	0.85353	0.5677	M	0.88640	2.97	0.80722	D	1	D;D;D;D;D	0.76494	0.985;0.997;0.999;0.997;0.997	D;D;D;D;D	0.78314	0.953;0.985;0.991;0.985;0.974	T	0.82508	-0.0422	10	0.56958	D	0.05	.	7.2461	0.26124	0.0:0.3659:0.1195:0.5146	.	1176;1169;1176;1169;1176	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	S	1169;1169;1176;1176;1176	ENSP00000300036:R1169S;ENSP00000345136:R1169S;ENSP00000379616:R1176S;ENSP00000407821:R1176S	ENSP00000300036:R1169S	R	-	3	2	MYH11	15734066	0.560000	0.26570	0.609000	0.28983	0.051000	0.14879	-0.172000	0.09868	-0.338000	0.08413	-0.369000	0.07265	AGG		0.582	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2		NM_001040113	Missense_Mutation
NAV2	89797	hgsc.bcm.edu;ucsc.edu	37	11	20104550	20104550	+	Intron	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:20104550C>G	ENST00000396087.3	+	29	5601				NAV2_ENST00000396085.1_Intron|NAV2_ENST00000540292.1_Intron|NAV2_ENST00000360655.4_Intron|NAV2_ENST00000527559.2_Intron|NAV2_ENST00000311043.8_Intron|NAV2_ENST00000533917.1_Intron|NAV2_ENST00000349880.4_Intron	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2						glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTTGTATATTCAGTTACGCAG	0.458																																																	0													59.0	55.0	56.0					11																	20104550		2203	4300	6503	SO:0001627	intron_variant	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.5503-3C>G	11.37:g.20104550C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	CCDS58126.1																																																																																				0.458	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1		NM_145117	
NBPF10	100132406	broad.mit.edu	37	1	145323666	145323666	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:145323666A>G	ENST00000342960.5	+	27	3538	c.3503A>G	c.(3502-3504)gAc>gGc	p.D1168G	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.D1168G(2)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ATTAAAAAGGACGAAGAAGAG	0.468																																																	2	Substitution - Missense(2)	endometrium(1)|kidney(1)																																								SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.3503A>G	1.37:g.145323666A>G	ENSP00000345684:p.Asp1168Gly	Somatic		WXS	Illumina GAIIx	Phase_I	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	8.978	0.974738	0.18736	.	.	ENSG00000163386	ENST00000342960	T	0.03524	3.9	.	.	.	.	.	.	.	.	T	0.02380	0.0073	L	0.60455	1.87	0.09310	N	1	.	.	.	.	.	.	T	0.42965	-0.9420	5	0.45353	T	0.12	.	.	.	.	.	.	.	.	G	1168	ENSP00000345684:D1168G	ENSP00000345684:D1168G	D	+	2	0	NBPF10	144035023	0.002000	0.14202	0.003000	0.11579	0.095000	0.18619	-0.338000	0.07842	0.386000	0.24997	0.128000	0.15822	GAC		0.468	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_001039703	
NFE2L2	4780	broad.mit.edu	37	2	178095480	178095480	+	3'UTR	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:178095480A>T	ENST00000397062.3	-	0	2405				NFE2L2_ENST00000446151.2_3'UTR|NFE2L2_ENST00000464747.1_3'UTR|NFE2L2_ENST00000397063.4_3'UTR	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2						cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGTACAAAAAAACTAGCTCAG	0.318			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													39.0	38.0	38.0					2																	178095480		1797	4062	5859	SO:0001624	3_prime_UTR_variant	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.*33T>A	2.37:g.178095480A>T		Somatic		WXS	Illumina GAIIx	Phase_I	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	3'UTR	SNP	ENST00000397062.3	37	CCDS42782.1																																																																																				0.318	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4		NM_006164	
NOL6	65083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	33469655	33469655	+	Missense_Mutation	SNP	T	T	A	rs558159929		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr9:33469655T>A	ENST00000379471.2	-	5	656	c.569A>T	c.(568-570)cAg>cTg	p.Q190L	NOL6_ENST00000464829.1_5'UTR|NOL6_ENST00000455041.2_Missense_Mutation_p.Q130L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	190					rRNA processing (GO:0006364)	condensed nuclear chromosome (GO:0000794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.Q190L(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GTCCTTGTCCTGTAGGATTTC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											87.0	98.0	94.0					9																	33469655		2203	4300	6503	SO:0001583	missense	65083			AF361079	CCDS6543.1, CCDS6544.1	9p12	2013-02-22	2013-02-22		ENSG00000165271	ENSG00000165271			19910	protein-coding gene	gene with protein product		611532	"""nucleolar protein family 6 (RNA-associated)"""			11895476, 15590835	Standard	NM_022917		Approved	bA311H10.1, Nrap, FLJ21959, MGC14896, MGC14921, MGC20838, UTP22	uc003zsz.3	Q9H6R4	OTTHUMG00000000394	ENST00000379471.2:c.569A>T	9.37:g.33469655T>A	ENSP00000368784:p.Gln190Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T5M3|Q5T5M4|Q7L4G6|Q8N6I0|Q8TEY9|Q8TEZ0|Q8TEZ1|Q9H675	Missense_Mutation	SNP	ENST00000379471.2	37		.	.	.	.	.	.	.	.	.	.	T	24.4	4.524125	0.85600	.	.	ENSG00000165271	ENST00000353159;ENST00000297990;ENST00000379471;ENST00000325914;ENST00000455041	T;T;T;T	0.48836	0.8;0.8;0.8;0.8	5.68	5.68	0.88126	.	0.163318	0.56097	D	0.000026	T	0.64929	0.2643	L	0.58583	1.82	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.983;0.999	D;D;D;P;D	0.74674	0.984;0.973;0.973;0.799;0.978	T	0.64639	-0.6360	10	0.45353	T	0.12	.	15.9269	0.79624	0.0:0.0:0.0:1.0	.	130;190;190;190;190	B4DF80;Q9H6R4-4;Q9H6R4-2;Q9H6R4-3;Q9H6R4	.;.;.;.;NOL6_HUMAN	L	190;190;190;190;130	ENSP00000313978:Q190L;ENSP00000297990:Q190L;ENSP00000368784:Q190L;ENSP00000395915:Q130L	ENSP00000297990:Q190L	Q	-	2	0	NOL6	33459655	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.599000	0.67592	2.174000	0.68829	0.459000	0.35465	CAG		0.612	NOL6-005	NOVEL	non_canonical_TEC|basic	protein_coding	protein_coding	OTTHUMT00000001019.2		NM_022917	
NRXN1	9378	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	50733648	50733648	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:50733648G>T	ENST00000406316.2	-	13	3958	c.2482C>A	c.(2482-2484)Caa>Aaa	p.Q828K	NRXN1_ENST00000401669.2_Missense_Mutation_p.Q828K|NRXN1_ENST00000402717.3_Missense_Mutation_p.Q820K|NRXN1_ENST00000405472.3_Missense_Mutation_p.Q820K|NRXN1_ENST00000406859.3_Missense_Mutation_p.Q828K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Missense_Mutation_p.Q868K	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	828	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.Q868K(1)|p.Q828K(1)|p.Q869K(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATGGCCTGTTGGTCATCCACT	0.463																																																	3	Substitution - Missense(3)	kidney(3)											133.0	136.0	135.0					2																	50733648		1960	4145	6105	SO:0001583	missense	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2482C>A	2.37:g.50733648G>T	ENSP00000384311:p.Gln828Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	G	9.056	0.993327	0.19043	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	5.7	4.81	0.61882	.	0.254973	0.39544	N	0.001322	T	0.59348	0.2187	N	0.11560	0.145	0.25983	N	0.982341	B;P;P	0.42010	0.19;0.768;0.703	B;B;B	0.35688	0.049;0.197;0.208	T	0.52260	-0.8599	10	0.24483	T	0.36	.	16.609	0.84838	0.0:0.1302:0.8698:0.0	.	868;828;820	Q9ULB1-3;F8WB18;A7E294	.;.;.	K	868;828;820;828;869;820;828	ENSP00000385142:Q868K;ENSP00000384311:Q828K;ENSP00000434015:Q820K;ENSP00000385017:Q828K;ENSP00000385434:Q820K;ENSP00000385681:Q828K	ENSP00000385017:Q828K	Q	-	1	0	NRXN1	50587152	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	5.666000	0.68059	1.375000	0.46248	0.561000	0.74099	CAA		0.463	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			
NXPH4	11247	broad.mit.edu	37	12	57618903	57618903	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:57618903G>A	ENST00000349394.5	+	2	475	c.300G>A	c.(298-300)gcG>gcA	p.A100A	NXPH4_ENST00000555154.1_3'UTR|Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	100	III.				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.A100A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TCAAGGCGGCGCGCGCCAAAA	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											20.0	18.0	19.0					12																	57618903		2190	4292	6482	SO:0001819	synonymous_variant	11247			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.300G>A	12.37:g.57618903G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A8K4I4|Q7Z6L3|Q8N462	Silent	SNP	ENST00000349394.5	37	CCDS8933.1																																																																																				0.667	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1		NM_007224	
OLFM4	10562	hgsc.bcm.edu;ucsc.edu	37	13	53624868	53624868	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr13:53624868C>T	ENST00000219022.2	+	5	1573	c.1495C>T	c.(1495-1497)Ctg>Ttg	p.L499L		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	499	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TGGTTACCTTCTGAATTATGA	0.363																																																	0													78.0	80.0	79.0					13																	53624868		2203	4299	6502	SO:0001819	synonymous_variant	10562			AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.1495C>T	13.37:g.53624868C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O95362|Q5VWG0|Q86T22	Silent	SNP	ENST00000219022.2	37	CCDS9440.1																																																																																				0.363	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2		NM_006418	
MMP26	56547	hgsc.bcm.edu;ucsc.edu	37	11	4903098	4903098	+	Intron	DEL	C	C	-			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:4903098delC	ENST00000380390.1	+	2	72				MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_5'Flank|OR51T1_ENST00000380378.1_Frame_Shift_Del_p.S17fs			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26						collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	AATTATTTTTCTTTCCTCATA	0.303																																																	0													57.0	52.0	53.0					11																	4903098		2201	4298	6499	SO:0001627	intron_variant	401665			AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.-144-106200C>-	11.37:g.4903098delC		Somatic		WXS	Illumina HiSeq	Phase_I	Q3MJ78|Q9GZS2|Q9NR87	Frame_Shift_Del	DEL	ENST00000380390.1	37	CCDS7752.1																																																																																				0.303	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142058.3		NM_021801	
PCLO	27445	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	82595299	82595299	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:82595299delC	ENST00000333891.9	-	4	4142	c.3805delG	c.(3805-3807)gtafs	p.V1269fs	PCLO_ENST00000423517.2_Frame_Shift_Del_p.V1269fs	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCAATTTGTACTTGAGATTTA	0.438																																																	0													213.0	209.0	210.0					7																	82595299		1888	4121	6009	SO:0001589	frameshift_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3805delG	7.37:g.82595299delC	ENSP00000334319:p.Val1269fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000333891.9	37	CCDS47630.1																																																																																				0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510	
PHF20	51230	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	34459730	34459730	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr20:34459730C>A	ENST00000374012.3	+	9	1390	c.1261C>A	c.(1261-1263)Caa>Aaa	p.Q421K	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	421					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q421K(1)		breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGTGGAATTACAAGAGATTTC	0.388																																																	1	Substitution - Missense(1)	kidney(1)											90.0	93.0	92.0					20																	34459730		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1261C>A	20.37:g.34459730C>A	ENSP00000363124:p.Gln421Lys	Somatic		WXS	Illumina HiSeq	Phase_I	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	ENST00000374012.3	37	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	5.864	0.343600	0.11126	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.41065	1.61;1.01;1.01	5.56	3.37	0.38596	.	0.455995	0.24016	N	0.042333	T	0.24198	0.0586	N	0.19112	0.55	0.41238	D	0.98662	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05801	-1.0863	10	0.08179	T	0.78	.	11.6893	0.51505	0.3328:0.6672:0.0:0.0	.	421;421	Q9BVI0;Q66K49	PHF20_HUMAN;.	K	421	ENSP00000363124:Q421K;ENSP00000341900:Q421K;ENSP00000363112:Q421K	ENSP00000341900:Q421K	Q	+	1	0	PHF20	33923144	0.876000	0.30132	0.831000	0.32960	0.020000	0.10135	1.560000	0.36331	1.306000	0.44926	0.591000	0.81541	CAA		0.388	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2		NM_016436	
PHF3	23469	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	64395089	64395089	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr6:64395089A>T	ENST00000262043.3	+	4	1806	c.1466A>T	c.(1465-1467)aAa>aTa	p.K489I	PHF3_ENST00000509330.1_Missense_Mutation_p.K489I|PHF3_ENST00000393387.1_Missense_Mutation_p.K489I			Q92576	PHF3_HUMAN	PHD finger protein 3	489					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.K489I(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTAAAATCCAAACATACAAAA	0.353																																					GBM(135;136 1820 29512 34071 46235)												1	Substitution - Missense(1)	kidney(1)											38.0	41.0	40.0					6																	64395089		2200	4296	6496	SO:0001583	missense	23469			AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.1466A>T	6.37:g.64395089A>T	ENSP00000262043:p.Lys489Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	7.515	0.655499	0.14580	.	.	ENSG00000118482	ENST00000506783;ENST00000481385;ENST00000262043;ENST00000494284;ENST00000509330;ENST00000393387	T;T;T;T;T;T	0.53423	1.89;1.57;1.96;1.6;0.62;1.96	5.98	5.98	0.97165	.	0.000000	0.42172	D	0.000746	T	0.50582	0.1624	L	0.60455	1.87	0.29952	N	0.820184	D;D	0.89917	0.999;1.0	P;D	0.76575	0.897;0.988	T	0.58008	-0.7712	10	0.87932	D	0	-30.625	8.4313	0.32759	0.8519:0.0:0.1481:0.0	.	489;489	Q92576;D6R9X2	PHF3_HUMAN;.	I	303;401;489;442;489;489	ENSP00000424694:K303I;ENSP00000425227:K401I;ENSP00000262043:K489I;ENSP00000424078:K442I;ENSP00000422841:K489I;ENSP00000377048:K489I	ENSP00000262043:K489I	K	+	2	0	PHF3	64453048	0.997000	0.39634	0.991000	0.47740	0.071000	0.16799	2.849000	0.48286	2.289000	0.77006	0.482000	0.46254	AAA		0.353	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			
PPIL2	23759	broad.mit.edu;ucsc.edu	37	22	22024876	22024876	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr22:22024876G>A	ENST00000335025.8	+	3	195	c.104G>A	c.(103-105)cGt>cAt	p.R35H	PPIL2_ENST00000406385.1_Missense_Mutation_p.R35H|PPIL2_ENST00000456792.2_Missense_Mutation_p.R35H|PPIL2_ENST00000398831.3_Missense_Mutation_p.R35H|PPIL2_ENST00000412327.1_Missense_Mutation_p.R35H|PPIL2_ENST00000492445.2_Missense_Mutation_p.R35H					peptidylprolyl isomerase (cyclophilin)-like 2									p.R35H(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					ACAAATTTTCGTCGTTTACCT	0.373																																																	1	Substitution - Missense(1)	kidney(1)											171.0	161.0	164.0					22																	22024876		2202	4300	6502	SO:0001583	missense	23759				CCDS13793.1	22q11.21	2013-01-29			ENSG00000100023	ENSG00000100023		"""U-box domain containing"""	9261	protein-coding gene	gene with protein product	"""U-box domain containing 7"""	607588				10591208	Standard	NM_014337		Approved	UBOX7, CYC4, Cyp-60	uc002zvh.4	Q13356	OTTHUMG00000030174	ENST00000335025.8:c.104G>A	22.37:g.22024876G>A	ENSP00000334553:p.Arg35His	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000335025.8	37	CCDS13793.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.602783	0.87157	.	.	ENSG00000100023	ENST00000412327;ENST00000335025;ENST00000398831;ENST00000492445;ENST00000458567;ENST00000406385;ENST00000456792	T;T;T;T;T;T	0.29917	1.63;1.65;1.65;1.65;1.65;1.55	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.77406	2.37	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74023	0.943;0.975;0.982	T	0.59337	-0.7473	10	0.87932	D	0	.	13.3043	0.60342	0.0:0.0:1.0:0.0	.	35;35;35	E7EW80;Q13356-2;Q13356	.;.;PPIL2_HUMAN	H	35;35;35;35;66;35;35	ENSP00000390427:R35H;ENSP00000334553:R35H;ENSP00000381812:R35H;ENSP00000445312:R35H;ENSP00000384299:R35H;ENSP00000396228:R35H	ENSP00000334553:R35H	R	+	2	0	PPIL2	20354876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.159000	0.71856	2.598000	0.87819	0.563000	0.77884	CGT		0.373	PPIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075028.4			
PRKG2	5593	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	82126026	82126026	+	Missense_Mutation	SNP	G	G	A	rs543931109		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr4:82126026G>A	ENST00000395578.1	-	2	292	c.176C>T	c.(175-177)tCg>tTg	p.S59L	PRKG2_ENST00000264399.1_Missense_Mutation_p.S59L|PRKG2_ENST00000418486.2_Missense_Mutation_p.S59L			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	59					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)	p.S59L(2)		NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGTCTGCTTCGACAGCTGCTC	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		17813	0.001		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	kidney(2)											109.0	108.0	108.0					4																	82126026		2203	4300	6503	SO:0001583	missense	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.176C>T	4.37:g.82126026G>A	ENSP00000378945:p.Ser59Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	ENST00000395578.1	37	CCDS3589.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.649726	0.47362	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.83250	-1.7;-1.7;-1.7	5.34	5.34	0.76211	.	0.250497	0.40222	N	0.001147	T	0.70876	0.3274	N	0.14661	0.345	0.80722	D	1	B;B	0.18461	0.028;0.0	B;B	0.12156	0.007;0.001	T	0.67027	-0.5774	10	0.48119	T	0.1	-5.8698	13.7557	0.62935	0.0:0.0:0.8464:0.1536	.	59;59	E7EPE6;Q13237	.;KGP2_HUMAN	L	59	ENSP00000378945:S59L;ENSP00000264399:S59L;ENSP00000389038:S59L	ENSP00000264399:S59L	S	-	2	0	PRKG2	82345050	1.000000	0.71417	0.960000	0.40013	0.959000	0.62525	6.225000	0.72271	2.780000	0.95670	0.585000	0.79938	TCG		0.557	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252639.1		NM_006259	
PSG8	440533	broad.mit.edu;hgsc.bcm.edu	37	19	43262176	43262176	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:43262176G>T	ENST00000306511.4	-	3	784	c.687C>A	c.(685-687)gaC>gaA	p.D229E	PSG8_ENST00000406636.3_Missense_Mutation_p.D107E|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000404209.4_Missense_Mutation_p.D229E|PSG8_ENST00000600709.1_5'UTR	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	229	Ig-like C2-type 1.					extracellular region (GO:0005576)		p.D229E(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGTGAATGGGTCACTGCGGC	0.527																																																	1	Substitution - Missense(1)	kidney(1)											209.0	219.0	216.0					19																	43262176		2203	4299	6502	SO:0001583	missense	440533			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.687C>A	19.37:g.43262176G>T	ENSP00000305005:p.Asp229Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	13.53	2.266058	0.40095	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000426252;ENST00000306511	T;T;T	0.12147	2.71;2.71;2.71	1.53	0.44	0.16572	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.25901	0.0631	L	0.59912	1.85	0.09310	N	0.999991	B;D;D;D	0.76494	0.007;0.998;0.999;0.999	B;D;D;D	0.81914	0.03;0.987;0.991;0.995	T	0.09751	-1.0660	9	0.87932	D	0	.	3.3042	0.06993	0.2851:0.0:0.7149:0.0	.	107;229;229;229	Q9UQ74-2;Q9UQ74;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.	E	229;104;107;41;229	ENSP00000385869:D229E;ENSP00000385081:D107E;ENSP00000305005:D229E	ENSP00000292109:D104E	D	-	3	2	PSG8	47954016	0.842000	0.29525	0.178000	0.23040	0.079000	0.17450	-0.185000	0.09684	0.835000	0.34877	0.298000	0.19748	GAC		0.527	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			
PSMC2	5701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	103008447	103008447	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:103008447C>T	ENST00000435765.1	+	13	1659	c.1248C>T	c.(1246-1248)gtC>gtT	p.V416V	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Silent_p.V279V|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000292644.3_Silent_p.V416V	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	416					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V416V(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						TAAATAAGGTCATTAAGTCTT	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											82.0	79.0	80.0					7																	103008447		2203	4300	6503	SO:0001819	synonymous_variant	5701			D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.1248C>T	7.37:g.103008447C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	37	CCDS5731.1																																																																																				0.418	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1		NM_002803	
PTPRQ	374462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	80940449	80940449	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:80940449G>A	ENST00000266688.5	+	29	3976	c.3976G>A	c.(3976-3978)Gta>Ata	p.V1326I				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1372	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)	p.V1326I(1)		breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						ATTTAGTAATGTAGTAAAATT	0.343																																																	1	Substitution - Missense(1)	kidney(1)											114.0	103.0	106.0					12																	80940449		692	1591	2283	SO:0001583	missense	374462			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.3976G>A	12.37:g.80940449G>A	ENSP00000266688:p.Val1326Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000266688.5	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.691|9.691	1.151971|1.151971	0.21371|0.21371	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000532722|ENST00000266688	.|T	.|0.53640	.|0.61	4.93|4.93	0.402|0.402	0.16344|0.16344	.|Fibronectin, type III (2);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.31451|0.31451	0.0797|0.0797	.|.	.|.	.|.	0.21020|0.21020	N|N	0.999806|0.999806	.|B	.|0.10296	.|0.003	.|B	.|0.04013	.|0.001	T|T	0.20706|0.20706	-1.0267|-1.0267	4|8	.|0.32370	.|T	.|0.25	.|.	8.7015|8.7015	0.34329|0.34329	0.5188:0.0:0.4812:0.0|0.5188:0.0:0.4812:0.0	.|.	.|1372	.|Q9UMZ3	.|PTPRQ_HUMAN	I|I	1026|1326	.|ENSP00000266688:V1326I	.|ENSP00000266688:V1326I	M|V	+|+	3|1	0|0	PTPRQ|PTPRQ	79464580|79464580	0.260000|0.260000	0.24053|0.24053	0.996000|0.996000	0.52242|0.52242	0.890000|0.890000	0.51754|0.51754	0.258000|0.258000	0.18387|0.18387	0.225000|0.225000	0.20959|0.20959	0.655000|0.655000	0.94253|0.94253	ATG|GTA		0.343	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001145026	
PVRL2	5819	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45391608	45391608	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:45391608T>C	ENST00000252483.5	+	9	1589	c.1589T>C	c.(1588-1590)tTt>tCt	p.F530S	CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000252487.5_5'Flank|TOMM40_ENST00000592434.1_5'Flank|TOMM40_ENST00000405636.2_5'Flank|TOMM40_ENST00000426677.2_5'Flank	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	530					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)	p.F530S(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GGCAAAGGCTTTGTCATGTCC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											90.0	84.0	86.0					19																	45391608		1983	4161	6144	SO:0001583	missense	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1589T>C	19.37:g.45391608T>C	ENSP00000252483:p.Phe530Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964794	0.74131	.	.	ENSG00000130202	ENST00000252483	D	0.92249	-3.0	4.67	4.67	0.58626	.	0.000000	0.51477	D	0.000096	D	0.92675	0.7672	L	0.29908	0.895	0.44570	D	0.997533	D	0.71674	0.998	D	0.78314	0.991	D	0.93358	0.6724	10	0.87932	D	0	.	12.3773	0.55287	0.0:0.0:0.0:1.0	.	530	Q92692	PVRL2_HUMAN	S	530	ENSP00000252483:F530S	ENSP00000252483:F530S	F	+	2	0	PVRL2	50083448	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.289000	0.59013	2.093000	0.63338	0.379000	0.24179	TTT		0.547	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1		NM_002856	
PXDN	7837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	1642647	1642647	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:1642647G>C	ENST00000252804.4	-	21	4227	c.4177C>G	c.(4177-4179)Cag>Gag	p.Q1393E		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1393					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.Q1393E(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATGGTCTTCTGCATTTCCAGA	0.557																																																	1	Substitution - Missense(1)	kidney(1)											138.0	142.0	141.0					2																	1642647		2090	4221	6311	SO:0001583	missense	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.4177C>G	2.37:g.1642647G>C	ENSP00000252804:p.Gln1393Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	ENST00000252804.4	37	CCDS46221.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273551	0.59649	.	.	ENSG00000130508	ENST00000252804	T	0.59502	0.26	5.43	5.43	0.79202	.	0.119539	0.56097	N	0.000021	T	0.50939	0.1645	L	0.45137	1.4	0.45747	D	0.998641	B	0.14805	0.011	B	0.19391	0.025	T	0.42344	-0.9457	10	0.17369	T	0.5	-41.3602	17.3777	0.87397	0.0:0.0:1.0:0.0	.	1393	Q92626	PXDN_HUMAN	E	1393	ENSP00000252804:Q1393E	ENSP00000252804:Q1393E	Q	-	1	0	PXDN	1621654	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.145000	0.77365	2.706000	0.92434	0.563000	0.77884	CAG		0.557	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1		XM_056455	
PYGO1	26108	broad.mit.edu;ucsc.edu	37	15	55841181	55841181	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr15:55841181C>T	ENST00000302000.6	-	2	156	c.62G>A	c.(61-63)gGa>gAa	p.G21E	PYGO1_ENST00000563719.1_Missense_Mutation_p.G21E	NM_015617.1	NP_056432.1	Q9Y3Y4	PYGO1_HUMAN	pygopus family PHD finger 1	21					hematopoietic progenitor cell differentiation (GO:0002244)|kidney development (GO:0001822)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein localization to nucleus (GO:0034504)|spermatid nucleus differentiation (GO:0007289)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.G21E(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		CCCATCCAGTCCACTATCACC	0.338																																																	1	Substitution - Missense(1)	kidney(1)											114.0	109.0	111.0					15																	55841181		2193	4292	6485	SO:0001583	missense	26108			AF457207	CCDS10155.1	15q21.1	2013-10-09	2013-10-09		ENSG00000171016	ENSG00000171016		"""Zinc fingers, PHD-type"""	30256	protein-coding gene	gene with protein product		606902	"""pygopus homolog 1 (Drosophila)"""			11988739	Standard	NM_015617		Approved		uc002adf.1	Q9Y3Y4	OTTHUMG00000132009	ENST00000302000.6:c.62G>A	15.37:g.55841181C>T	ENSP00000302327:p.Gly21Glu	Somatic		WXS	Illumina GAIIx	Phase_I	A7Y2D6	Missense_Mutation	SNP	ENST00000302000.6	37	CCDS10155.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056002	0.55325	.	.	ENSG00000171016	ENST00000302000;ENST00000401688	T	0.57273	0.41	5.16	4.22	0.49857	.	0.151478	0.43416	D	0.000572	T	0.52240	0.1722	L	0.27053	0.805	0.52099	D	0.999943	D;D	0.58268	0.982;0.982	P;P	0.55112	0.769;0.769	T	0.56007	-0.8050	10	0.62326	D	0.03	-9.5131	12.6259	0.56630	0.1657:0.8343:0.0:0.0	.	21;21	A7Y2D6;Q9Y3Y4	.;PYGO1_HUMAN	E	21	ENSP00000302327:G21E	ENSP00000302327:G21E	G	-	2	0	PYGO1	53628473	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.582000	0.67477	1.255000	0.44051	0.655000	0.94253	GGA		0.338	PYGO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254977.2		NM_015617	
RAB26	25837	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	2200042	2200042	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:2200042T>A	ENST00000210187.6	+	2	456	c.296T>A	c.(295-297)aTt>aAt	p.I99N	RAB26_ENST00000541451.1_Missense_Mutation_p.I33N	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	99					exocrine system development (GO:0035272)|Golgi to plasma membrane protein transport (GO:0043001)|regulated secretory pathway (GO:0045055)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	Golgi membrane (GO:0000139)|intrinsic component of plasma membrane (GO:0031226)|secretory granule membrane (GO:0030667)	GMP binding (GO:0019002)|GTP binding (GO:0005525)	p.I33N(1)		kidney(1)|large_intestine(1)|lung(3)	5						ACCGTAGGCATTGACTTCCGG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											145.0	124.0	131.0					16																	2200042		2010	3899	5909	SO:0001583	missense	25837			AB027137	CCDS10460.1	16p13.3	2008-07-28			ENSG00000167964	ENSG00000167964		"""RAB, member RAS oncogene"""	14259	protein-coding gene	gene with protein product		605455				11043516	Standard	NM_014353		Approved		uc002cou.3	Q9ULW5	OTTHUMG00000128829	ENST00000210187.6:c.296T>A	16.37:g.2200042T>A	ENSP00000210187:p.Ile99Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAA6|Q3L6K5|Q6NXS7	Missense_Mutation	SNP	ENST00000210187.6	37	CCDS10460.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.077198	0.76415	.	.	ENSG00000167964	ENST00000541451;ENST00000210187	T;T	0.81330	-1.48;-1.48	4.18	4.18	0.49190	Small GTP-binding protein domain (1);	0.000000	0.64402	U	0.000010	D	0.86851	0.6032	M	0.63428	1.95	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87870	0.2670	10	0.87932	D	0	.	11.4921	0.50387	0.0:0.0:0.0:1.0	.	99	Q9ULW5	RAB26_HUMAN	N	33;99	ENSP00000441580:I33N;ENSP00000210187:I99N	ENSP00000210187:I99N	I	+	2	0	RAB26	2140043	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.413000	0.80104	1.898000	0.54952	0.454000	0.30748	ATT		0.617	RAB26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250767.2			
RBM27	54439	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	145643071	145643071	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:145643071G>C	ENST00000265271.5	+	14	2374	c.2208G>C	c.(2206-2208)caG>caC	p.Q736H	RBM27_ENST00000506502.1_Missense_Mutation_p.Q681H	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	736					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q736H(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAACCACAGACATCAGGTG	0.378																																																	1	Substitution - Missense(1)	kidney(1)											193.0	159.0	169.0					5																	145643071		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2208G>C	5.37:g.145643071G>C	ENSP00000265271:p.Gln736His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IYW9	Missense_Mutation	SNP	ENST00000265271.5	37	CCDS43378.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.064723	0.36470	.	.	ENSG00000091009	ENST00000265271	T	0.43294	0.95	5.59	3.48	0.39840	.	0.236064	0.32753	N	0.005699	T	0.20861	0.0502	N	0.19112	0.55	0.26161	N	0.980006	P;P	0.46277	0.875;0.804	B;B	0.38327	0.271;0.133	T	0.09596	-1.0667	10	0.10636	T	0.68	-9.1624	7.9122	0.29798	0.1553:0.0:0.7111:0.1336	.	736;681	Q9P2N5;B3KY61	RBM27_HUMAN;.	H	736	ENSP00000265271:Q736H	ENSP00000265271:Q736H	Q	+	3	2	RBM27	145623264	0.992000	0.36948	0.999000	0.59377	0.973000	0.67179	1.431000	0.34925	1.363000	0.46019	0.650000	0.86243	CAG		0.378	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373420.1		XM_291128	
RELB	5971	broad.mit.edu	37	19	45525450	45525450	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:45525450A>G	ENST00000221452.8	+	5	794	c.644A>G	c.(643-645)cAc>cGc	p.H215R	RELB_ENST00000505236.1_Missense_Mutation_p.H212R|RELB_ENST00000540120.1_Missense_Mutation_p.H215R	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	215	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.H215R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CTCCGGCCTCACGTCAGCCCC	0.632																																																	1	Substitution - Missense(1)	kidney(1)											42.0	50.0	47.0					19																	45525450		2071	4198	6269	SO:0001583	missense	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.644A>G	19.37:g.45525450A>G	ENSP00000221452:p.His215Arg	Somatic		WXS	Illumina GAIIx	Phase_I	Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.464935	0.43839	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.40756	1.02;1.02;1.02	4.74	4.74	0.60224	.	0.134889	0.48286	D	0.000200	T	0.32556	0.0833	L	0.31926	0.97	0.43868	D	0.99647	B	0.15141	0.012	B	0.10450	0.005	T	0.10337	-1.0634	10	0.41790	T	0.15	-21.6906	12.2322	0.54495	1.0:0.0:0.0:0.0	.	212	D6R992	.	R	215;215;212	ENSP00000221452:H215R;ENSP00000445542:H215R;ENSP00000423287:H212R	ENSP00000221452:H215R	H	+	2	0	RELB	50217290	0.979000	0.34478	1.000000	0.80357	0.979000	0.70002	2.514000	0.45503	1.982000	0.57802	0.379000	0.24179	CAC		0.632	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			
RELN	5649	hgsc.bcm.edu;ucsc.edu	37	7	103293088	103293088	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:103293088delA	ENST00000428762.1	-	14	1832	c.1673delT	c.(1672-1674)ttcfs	p.F558fs	RELN_ENST00000424685.2_Frame_Shift_Del_p.F558fs|RELN_ENST00000343529.5_Frame_Shift_Del_p.F558fs	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	558					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAAGACATGGAAAAAGTCTAC	0.448																																					NSCLC(146;835 1944 15585 22231 52158)												0													158.0	154.0	155.0					7																	103293088		2203	4300	6503	SO:0001589	frameshift_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.1673delT	7.37:g.103293088delA	ENSP00000392423:p.Phe558fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Frame_Shift_Del	DEL	ENST00000428762.1	37	CCDS47680.1																																																																																				0.448	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1		NM_005045	
REV3L	5980	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	111694884	111694885	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr6:111694884_111694885insT	ENST00000358835.3	-	14	5127_5128	c.4673_4674insA	c.(4672-4674)aatfs	p.N1558fs	REV3L_ENST00000435970.1_Frame_Shift_Ins_p.N1480fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.N1558fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.N1558fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1558					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAATATTTTTATTTGGTTGATG	0.371								DNA polymerases (catalytic subunits)																																									0																																										SO:0001589	frameshift_variant	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.4674dupA	6.37:g.111694887_111694887dupT	ENSP00000351697:p.Asn1558fs	Somatic		WXS	Illumina HiSeq	Phase_I	O43214|Q5TC33	Frame_Shift_Ins	INS	ENST00000358835.3	37	CCDS5091.2																																																																																				0.371	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1		NM_002912	
RFPL4A	342931	broad.mit.edu	37	19	56273182	56273182	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:56273182delA	ENST00000434937.2	+	2	187	c.16delA	c.(16-18)aaafs	p.K6fs		NM_001145014.1	NP_001138486.1	A6NLU0	RFPLA_HUMAN	ret finger protein-like 4A	6							zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TGAGCACTTCAAACAGATCAT	0.413																																																	0													5.0	4.0	4.0					19																	56273182		605	1407	2012	SO:0001589	frameshift_variant	342931				CCDS46201.1	19q13.42	2013-02-22	2007-01-19	2007-01-19	ENSG00000223638	ENSG00000223638		"""RING-type (C3HC4) zinc fingers"""	16449	protein-coding gene	gene with protein product		612601	"""ret finger protein-like 4"""	RFPL4		11850190	Standard	NM_001145014		Approved	RNF210	uc010yge.2	A6NLU0	OTTHUMG00000165449	ENST00000434937.2:c.16delA	19.37:g.56273182delA	ENSP00000392936:p.Lys6fs	Somatic		WXS	Illumina GAIIx	Phase_I		Frame_Shift_Del	DEL	ENST00000434937.2	37	CCDS46201.1																																																																																				0.413	RFPL4A-001	NOVEL	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384184.1		XM_292796	
RHBDF1	64285	broad.mit.edu;ucsc.edu	37	16	109255	109255	+	Silent	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:109255C>T	ENST00000262316.6	-	16	2128	c.1986G>A	c.(1984-1986)ctG>ctA	p.L662L		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	662					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.L662L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCCCGGCGTGCAGGAAGAGGG	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											47.0	49.0	48.0					16																	109255		2203	4300	6503	SO:0001819	synonymous_variant	64285			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1986G>A	16.37:g.109255C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	CCDS32344.1																																																																																				0.627	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2		NM_022450	
RNF213	57674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	78321744	78321744	+	Silent	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:78321744A>G	ENST00000582970.1	+	29	9752	c.9609A>G	c.(9607-9609)gcA>gcG	p.A3203A	RNF213_ENST00000508628.2_Silent_p.A3252A|RNF213_ENST00000336301.6_Silent_p.A1276A	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3203					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.A3252A(1)|p.A1276A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATGTCAAAGCACATCATTTCC	0.532																																																	2	Substitution - coding silent(2)	kidney(2)											89.0	94.0	93.0					17																	78321744		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9609A>G	17.37:g.78321744A>G		Somatic		WXS	Illumina HiSeq	Phase_I	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	ENST00000582970.1	37	CCDS58606.1																																																																																				0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1		NM_020914	
RNF25	64320	hgsc.bcm.edu	37	2	219529592	219529592	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:219529592A>G	ENST00000295704.2	-	9	1111	c.671T>C	c.(670-672)cTg>cCg	p.L224P		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	224					positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGCTGGTACAGCTCCTGGAA	0.562																																																	0													51.0	50.0	50.0					2																	219529592		2203	4300	6503	SO:0001583	missense	64320				CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.671T>C	2.37:g.219529592A>G	ENSP00000295704:p.Leu224Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0D6|Q53HQ5|Q9H874	Missense_Mutation	SNP	ENST00000295704.2	37	CCDS2420.1	.	.	.	.	.	.	.	.	.	.	A	3.133	-0.178083	0.06380	.	.	ENSG00000163481	ENST00000295704	T	0.46451	0.87	5.94	-0.965	0.10323	.	0.783356	0.11922	N	0.516605	T	0.20536	0.0494	N	0.17474	0.49	0.20764	N	0.999854	B	0.02656	0.0	B	0.01281	0.0	T	0.15723	-1.0427	10	0.30078	T	0.28	-25.7991	3.288	0.06939	0.3695:0.0:0.2059:0.4246	.	224	Q96BH1	RNF25_HUMAN	P	224	ENSP00000295704:L224P	ENSP00000295704:L224P	L	-	2	0	RNF25	219237836	0.139000	0.22563	0.551000	0.28230	0.140000	0.21249	0.546000	0.23284	-0.104000	0.12154	-0.444000	0.05651	CTG		0.562	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1		NM_022453	
RNF26	79102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119205888	119205888	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:119205888C>A	ENST00000311413.4	+	1	652	c.56C>A	c.(55-57)aCc>aAc	p.T19N	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	19						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.T19N(1)		cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GACGTGCTGACCTTGGTGTTG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											266.0	217.0	233.0					11																	119205888		2199	4295	6494	SO:0001583	missense	79102			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.56C>A	11.37:g.119205888C>A	ENSP00000312439:p.Thr19Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q542Y8	Missense_Mutation	SNP	ENST00000311413.4	37	CCDS8419.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562791	0.45694	.	.	ENSG00000173456	ENST00000311413	T	0.33216	1.42	5.25	3.15	0.36227	.	0.337955	0.28946	N	0.013633	T	0.13841	0.0335	N	0.14661	0.345	0.31585	N	0.654621	B	0.10296	0.003	B	0.08055	0.003	T	0.04495	-1.0947	10	0.40728	T	0.16	-19.834	2.1208	0.03725	0.1728:0.4138:0.2847:0.1287	.	19	Q9BY78	RNF26_HUMAN	N	19	ENSP00000312439:T19N	ENSP00000312439:T19N	T	+	2	0	RNF26	118711098	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	1.678000	0.37586	2.462000	0.83206	0.655000	0.94253	ACC		0.577	RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1		NM_032015	
ROCK2	9475	hgsc.bcm.edu;ucsc.edu	37	2	11389808	11389814	+	Frame_Shift_Del	DEL	GGCAAAG	GGCAAAG	-	rs2230773	byFrequency	TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	GGCAAAG	GGCAAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:11389808_11389814delGGCAAAG	ENST00000315872.6	-	4	883_889	c.435_441delCTTTGCC	c.(433-441)gcctttgccfs	p.AFA145fs	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AGGGGCTATTGGCAAAGGCCATAATAT	0.348																																																	0																																										SO:0001589	frameshift_variant	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.435_441delCTTTGCC	2.37:g.11389808_11389814delGGCAAAG	ENSP00000317985:p.Ala145fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q53QZ0|Q53SJ7|Q9UQN5	Frame_Shift_Del	DEL	ENST00000315872.6	37	CCDS42654.1																																																																																				0.348	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			
RPRD2	23248	broad.mit.edu;ucsc.edu	37	1	150445629	150445629	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:150445629C>A	ENST00000369068.4	+	11	4209	c.4205C>A	c.(4204-4206)tCa>tAa	p.S1402*	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Nonsense_Mutation_p.S1376*	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1402	Pro-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.S1402*(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TTGGGTCCCTCACACAGAGAC	0.602																																																	2	Substitution - Nonsense(2)	kidney(2)											54.0	59.0	57.0					1																	150445629		1959	4137	6096	SO:0001587	stop_gained	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.4205C>A	1.37:g.150445629C>A	ENSP00000358064:p.Ser1402*	Somatic		WXS	Illumina GAIIx	Phase_I	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Nonsense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	C	39	7.869540	0.98534	.	.	ENSG00000163125	ENST00000401000;ENST00000369068	.	.	.	4.47	4.47	0.54385	.	0.562833	0.16054	N	0.231816	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.6266	17.326	0.87248	0.0:1.0:0.0:0.0	.	.	.	.	X	1376;1402	.	ENSP00000358064:S1402X	S	+	2	0	RPRD2	148712253	0.794000	0.28838	1.000000	0.80357	0.997000	0.91878	4.694000	0.61760	2.293000	0.77203	0.655000	0.94253	TCA		0.602	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1		NM_015203	
RWDD2B	10069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	30380357	30380357	+	Silent	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr21:30380357A>G	ENST00000493196.1	-	4	550	c.450T>C	c.(448-450)tgT>tgC	p.C150C	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	150	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.							p.C150C(1)		endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						CATTCAGTATACAAACATCTC	0.443																																																	1	Substitution - coding silent(1)	kidney(1)											79.0	75.0	76.0					21																	30380357		2203	4300	6503	SO:0001819	synonymous_variant	10069			AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.450T>C	21.37:g.30380357A>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000493196.1	37	CCDS13582.1																																																																																				0.443	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171858.1			
SDK2	54549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	71420174	71420174	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:71420174G>A	ENST00000392650.3	-	13	1641	c.1641C>T	c.(1639-1641)cgC>cgT	p.R547R	SDK2_ENST00000388726.3_Silent_p.R547R	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	547	Ig-like C2-type 6.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.R547R(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TTCTGTCCAGGCGGATACGAG	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											50.0	40.0	43.0					17																	71420174		2203	4300	6503	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1641C>T	17.37:g.71420174G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	ENST00000392650.3	37	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.521500	0.27211	.	.	ENSG00000069188	ENST00000416616	.	.	.	5.55	0.845	0.18950	.	.	.	.	.	T	0.44052	0.1275	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29610	-1.0006	4	.	.	.	.	3.1771	0.06572	0.1385:0.2181:0.4644:0.179	.	.	.	.	S	452	.	.	P	-	1	0	SDK2	68931769	0.786000	0.28738	1.000000	0.80357	0.930000	0.56654	-0.108000	0.10857	0.710000	0.31997	0.655000	0.94253	CCT		0.587	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2		NM_019064	
SEC24A	10802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	134002663	134002663	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:134002663T>A	ENST00000398844.2	+	3	1004	c.716T>A	c.(715-717)tTt>tAt	p.F239Y	SEC24A_ENST00000322887.4_Missense_Mutation_p.F239Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	239					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.F239Y(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGCCCTTATTTAATTCAGCT	0.488																																																	1	Substitution - Missense(1)	kidney(1)											48.0	46.0	47.0					5																	134002663		1826	4082	5908	SO:0001583	missense	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.716T>A	5.37:g.134002663T>A	ENSP00000381823:p.Phe239Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	T	8.415	0.845156	0.16963	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	T;T	0.45668	1.15;0.89	4.94	3.68	0.42216	.	0.846122	0.10460	N	0.672129	T	0.25865	0.0630	L	0.36672	1.1	0.20563	N	0.999889	B	0.27068	0.167	B	0.25614	0.062	T	0.37820	-0.9689	10	0.02654	T	1	-13.3066	5.1464	0.14987	0.1598:0.0857:0.0:0.7546	.	239	O95486	SC24A_HUMAN	Y	239	ENSP00000381823:F239Y;ENSP00000321749:F239Y	ENSP00000321749:F239Y	F	+	2	0	SEC24A	134030562	0.583000	0.26757	0.866000	0.34008	0.638000	0.38207	0.773000	0.26661	1.966000	0.57179	0.491000	0.48974	TTT		0.488	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			
SGPP1	81537	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64152863	64152863	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr14:64152863A>C	ENST00000247225.6	-	3	1380	c.1286T>G	c.(1285-1287)tTt>tGt	p.F429C		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	429					extrinsic apoptotic signaling pathway (GO:0097191)|intrinsic apoptotic signaling pathway (GO:0097193)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate metabolic process (GO:0006668)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	sphingosine-1-phosphate phosphatase activity (GO:0042392)	p.F429C(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		AGGAACAAAAAATGTGATGGA	0.333																																																	1	Substitution - Missense(1)	kidney(1)											77.0	63.0	68.0					14																	64152863		2203	4299	6502	SO:0001583	missense	81537			AJ293294	CCDS9760.1	14q23.1	2003-09-17			ENSG00000126821	ENSG00000126821			17720	protein-coding gene	gene with protein product		612826				10859351	Standard	NM_030791		Approved		uc001xgj.3	Q9BX95	OTTHUMG00000029080	ENST00000247225.6:c.1286T>G	14.37:g.64152863A>C	ENSP00000247225:p.Phe429Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAH0|Q9H189	Missense_Mutation	SNP	ENST00000247225.6	37	CCDS9760.1	.	.	.	.	.	.	.	.	.	.	A	6.296	0.422728	0.11928	.	.	ENSG00000126821	ENST00000247225	.	.	.	6.07	2.27	0.28462	.	0.173106	0.52532	N	0.000079	T	0.43277	0.1240	L	0.38838	1.175	0.40502	D	0.980658	B	0.23990	0.095	B	0.19391	0.025	T	0.19943	-1.0290	9	0.34782	T	0.22	-27.2959	9.3131	0.37917	0.6116:0.327:0.0614:0.0	.	429	Q9BX95	SGPP1_HUMAN	C	429	.	ENSP00000247225:F429C	F	-	2	0	SGPP1	63222616	0.682000	0.27624	0.959000	0.39883	0.982000	0.71751	1.606000	0.36826	0.135000	0.18707	0.533000	0.62120	TTT		0.333	SGPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072626.3		NM_030791	
SCAF11	9169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	46321850	46321850	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr12:46321850T>C	ENST00000369367.3	-	11	1867	c.1634A>G	c.(1633-1635)cAt>cGt	p.H545R	SCAF11_ENST00000465950.1_Missense_Mutation_p.H230R|SCAF11_ENST00000419565.2_Missense_Mutation_p.H545R|SCAF11_ENST00000549162.1_Missense_Mutation_p.H353R	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	545					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H545R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ATTTGGAAGATGAACTGTACA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											110.0	102.0	105.0					12																	46321850		2203	4300	6503	SO:0001583	missense	0			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.1634A>G	12.37:g.46321850T>C	ENSP00000358374:p.His545Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	0.332	-0.955392	0.02267	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.41400	1.59;2.33;1.59;2.33;1.0	5.54	-0.746	0.11095	.	1.294390	0.04942	N	0.458761	T	0.32133	0.0819	L	0.46157	1.445	0.09310	N	1	B;B	0.29805	0.257;0.097	B;B	0.26864	0.074;0.023	T	0.18241	-1.0343	10	0.25751	T	0.34	0.9825	4.8516	0.13540	0.0:0.2733:0.2887:0.438	.	353;545	F8VXG7;Q99590	.;SCAFB_HUMAN	R	230;545;353;545;485	ENSP00000449812:H230R;ENSP00000358374:H545R;ENSP00000448864:H353R;ENSP00000413036:H545R;ENSP00000446746:H485R	ENSP00000358374:H545R	H	-	2	0	SCAF11	44608117	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.001000	0.12947	0.073000	0.16731	-0.316000	0.08728	CAT		0.373	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2		NM_004719	
SYMPK	8189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46319803	46319803	+	Silent	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:46319803G>T	ENST00000245934.7	-	25	3535	c.3291C>A	c.(3289-3291)atC>atA	p.I1097I	RSPH6A_ENST00000597055.1_5'Flank|RSPH6A_ENST00000221538.3_5'Flank|SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1097					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.I1097I(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGGCCTCCAAGATGGTCATGA	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											37.0	41.0	39.0					19																	46319803		2203	4300	6503	SO:0001819	synonymous_variant	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3291C>A	19.37:g.46319803G>T		Somatic		WXS	Illumina HiSeq	Phase_I	O00521|O00689|O00733|Q59GT5|Q8N2U5	Silent	SNP	ENST00000245934.7	37	CCDS12676.2																																																																																				0.652	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1		NM_004819	
TLN2	83660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63092888	63092888	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr15:63092888G>A	ENST00000561311.1	+	49	6627	c.6397G>A	c.(6397-6399)Gta>Ata	p.V2133I	TLN2_ENST00000306829.6_Missense_Mutation_p.V2133I			Q9Y4G6	TLN2_HUMAN	talin 2	2133					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.V2133I(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCTCAAGACTGTAAAGGCAGT	0.537																																																	1	Substitution - Missense(1)	kidney(1)											56.0	45.0	49.0					15																	63092888		2203	4300	6503	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6397G>A	15.37:g.63092888G>A	ENSP00000453508:p.Val2133Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723585	0.89298	.	.	ENSG00000171914	ENST00000306829	T	0.13420	2.59	5.6	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.40498	0.1119	M	0.81497	2.545	0.58432	D	0.999999	D	0.53885	0.963	D	0.77004	0.989	T	0.33675	-0.9859	10	0.46703	T	0.11	-13.2327	15.9635	0.79948	0.0:0.0:0.8642:0.1358	.	2133	Q9Y4G6	TLN2_HUMAN	I	2133	ENSP00000303476:V2133I	ENSP00000303476:V2133I	V	+	1	0	TLN2	60879941	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.813000	0.99286	1.353000	0.45828	0.655000	0.94253	GTA		0.537	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			
TMC5	79838	broad.mit.edu;hgsc.bcm.edu	37	16	19460864	19460864	+	Splice_Site	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:19460864T>G	ENST00000396229.2	+	5	1708	c.959T>G	c.(958-960)gTg>gGg	p.V320G	TMC5_ENST00000542583.2_Splice_Site_p.V320G|TMC5_ENST00000381414.4_Splice_Site_p.V320G|TMC5_ENST00000541464.1_Splice_Site_p.V320G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	320					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V320G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTCCCTCCAGTGAACCCTGCT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											207.0	204.0	205.0					16																	19460864		2005	4187	6192	SO:0001630	splice_region_variant	79838			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.959-1T>G	16.37:g.19460864T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	T	10.57	1.387530	0.25031	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	4.71	2.22	0.28083	.	2.503430	0.01719	N	0.028190	T	0.35998	0.0951	L	0.29908	0.895	0.47374	D	0.999402	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.002	T	0.34650	-0.9820	9	.	.	.	.	4.883	0.13688	0.1882:0.0:0.1958:0.616	.	320;320;320	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	G	320	ENSP00000441227:V320G;ENSP00000370822:V320G;ENSP00000379531:V320G;ENSP00000446274:V320G	.	V	+	2	0	TMC5	19368365	1.000000	0.71417	0.998000	0.56505	0.682000	0.39822	1.210000	0.32370	0.891000	0.36235	0.496000	0.49642	GTG		0.458	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1		NM_024780	Missense_Mutation
TMEM229A	730130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123672673	123672673	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:123672673G>A	ENST00000455783.1	-	1	850	c.385C>T	c.(385-387)Cac>Tac	p.H129Y	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	129						host cell nucleus (GO:0042025)|integral component of membrane (GO:0016021)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H129Y(2)		endometrium(3)|kidney(3)	6						AGCCCCACGTGGGCCGAGGGG	0.697																																																	2	Substitution - Missense(2)	kidney(2)											84.0	92.0	90.0					7																	123672673		692	1591	2283	SO:0001583	missense	730130			BC157828	CCDS47694.1	7q31.32	2009-09-22			ENSG00000234224	ENSG00000234224			37279	protein-coding gene	gene with protein product							Standard	NM_001136002		Approved		uc011kob.2	B2RXF0	OTTHUMG00000154762	ENST00000455783.1:c.385C>T	7.37:g.123672673G>A	ENSP00000395244:p.His129Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0X6	Missense_Mutation	SNP	ENST00000455783.1	37	CCDS47694.1	.	.	.	.	.	.	.	.	.	.	G	6.138	0.393708	0.11638	.	.	ENSG00000234224	ENST00000455783	.	.	.	3.77	2.89	0.33648	.	.	.	.	.	T	0.23688	0.0573	N	0.14661	0.345	0.30416	N	0.778551	B	0.19817	0.039	B	0.14578	0.011	T	0.17471	-1.0368	8	0.32370	T	0.25	.	7.23	0.26036	0.1298:0.0:0.8702:0.0	.	129	B2RXF0	T229A_HUMAN	Y	129	.	ENSP00000395244:H129Y	H	-	1	0	TMEM229A	123459909	1.000000	0.71417	0.989000	0.46669	0.069000	0.16628	2.748000	0.47483	0.583000	0.29574	-0.391000	0.06502	CAC		0.697	TMEM229A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336960.3		NM_001136002	
TMX4	56255	hgsc.bcm.edu	37	20	7963240	7963240	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr20:7963240A>T	ENST00000246024.2	-	8	923	c.708T>A	c.(706-708)caT>caA	p.H236Q		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	236	Glu-rich.				cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GTTCAGCTCTATGAGCCTCCT	0.403																																																	0													69.0	59.0	62.0					20																	7963240		2203	4300	6503	SO:0001583	missense	56255				CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.708T>A	20.37:g.7963240A>T	ENSP00000246024:p.His236Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	ENST00000246024.2	37	CCDS13101.1	.	.	.	.	.	.	.	.	.	.	A	12.05	1.821041	0.32237	.	.	ENSG00000125827	ENST00000246024	T	0.08807	3.05	6.03	-9.49	0.00587	.	1.002150	0.08037	N	0.994427	T	0.03477	0.0100	N	0.17674	0.51	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41502	-0.9505	10	0.09590	T	0.72	-1.1237	7.229	0.26033	0.2424:0.0:0.4665:0.2911	.	236	Q9H1E5	TMX4_HUMAN	Q	236	ENSP00000246024:H236Q	ENSP00000246024:H236Q	H	-	3	2	TMX4	7911240	0.000000	0.05858	0.000000	0.03702	0.853000	0.48598	-3.312000	0.00516	-2.280000	0.00675	-0.503000	0.04515	CAT		0.403	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000077928.2		NM_021156	
TOE1	114034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	45808092	45808092	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:45808092T>G	ENST00000372090.5	+	6	1112	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V	TESK2_ENST00000486676.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.F97V|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000488731.2_5'Flank|MUTYH_ENST00000372104.1_5'Flank|MUTYH_ENST00000450313.1_5'Flank|TOE1_ENST00000495703.1_3'UTR|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000372098.3_5'Flank|MUTYH_ENST00000531105.1_5'Flank|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000372115.3_5'Flank|MUTYH_ENST00000372110.3_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	177						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.F177V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					ACGGACCCTATTCCTGGAGCT	0.562																																																	1	Substitution - Missense(1)	kidney(1)											98.0	101.0	100.0					1																	45808092		2203	4300	6503	SO:0001583	missense	114034				CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.529T>G	1.37:g.45808092T>G	ENSP00000361162:p.Phe177Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	ENST00000372090.5	37	CCDS521.1	.	.	.	.	.	.	.	.	.	.	T	19.46	3.831307	0.71258	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.22743	1.94;1.94	5.64	5.64	0.86602	Ribonuclease H-like (1);	0.095003	0.64402	D	0.000001	T	0.42200	0.1192	M	0.61703	1.905	0.80722	D	1	P;D;D	0.63880	0.91;0.993;0.993	P;P;P	0.61940	0.531;0.896;0.896	T	0.28170	-1.0052	10	0.62326	D	0.03	-13.0414	15.8714	0.79122	0.0:0.0:0.0:1.0	.	183;97;177	B4DP23;B4DEM6;Q96GM8	.;.;TOE1_HUMAN	V	177;97	ENSP00000361162:F177V;ENSP00000438900:F97V	ENSP00000361162:F177V	F	+	1	0	TOE1	45580679	1.000000	0.71417	0.996000	0.52242	0.727000	0.41649	6.251000	0.72441	2.144000	0.66660	0.533000	0.62120	TTC		0.562	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020517.1		NM_025077	
TNR	7143	broad.mit.edu;ucsc.edu	37	1	175355202	175355202	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:175355202G>A	ENST00000367674.2	-	8	2451	c.1743C>T	c.(1741-1743)aaC>aaT	p.N581N	TNR_ENST00000263525.2_Silent_p.N581N			Q92752	TENR_HUMAN	tenascin R	581	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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.N581N(1)|p.N581K(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)					AATCGCTCTCGTTGGTCCCTC	0.632																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											98.0	90.0	93.0					1																	175355202		2203	4300	6503	SO:0001819	synonymous_variant	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.1743C>T	1.37:g.175355202G>A		Somatic		WXS	Illumina GAIIx	Phase_I	C9J563|Q15568|Q5R3G0	Silent	SNP	ENST00000367674.2	37	CCDS1318.1																																																																																				0.632	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285	
TRAPPC8	22878	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	29410858	29410858	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr18:29410858G>A	ENST00000283351.4	-	29	4503	c.4168C>T	c.(4168-4170)Ctg>Ttg	p.L1390L	TRAPPC8_ENST00000582539.1_Silent_p.L1336L	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1390					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.L1390L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGCTTTCAGCTGCAGACTG	0.418																																																	1	Substitution - coding silent(1)	kidney(1)											123.0	107.0	112.0					18																	29410858		2203	4300	6503	SO:0001819	synonymous_variant	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.4168C>T	18.37:g.29410858G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	CCDS11901.1																																																																																				0.418	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1		NM_014939	
TRPC7	57113	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	135561036	135561036	+	Missense_Mutation	SNP	G	G	C	rs369107882		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:135561036G>C	ENST00000513104.1	-	10	2551	c.2269C>G	c.(2269-2271)Cgc>Ggc	p.R757G	TRPC7_ENST00000355180.3_Missense_Mutation_p.R696G|TRPC7_ENST00000426057.2_Missense_Mutation_p.R641G	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	757					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)	p.R757G(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCCTGGTAGCGAGTCTTCTGG	0.448																																																	2	Substitution - Missense(2)	kidney(2)											110.0	109.0	109.0					5																	135561036		1942	4149	6091	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2269C>G	5.37:g.135561036G>C	ENSP00000426070:p.Arg757Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	ENST00000513104.1	37	CCDS47267.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.40|13.40	2.225746|2.225746	0.39300|0.39300	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.82255|.	-1.59;-1.59;-1.59|.	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	0.248356|.	0.42548|.	D|.	0.000683|.	T|T	0.71013|0.71013	0.3290|0.3290	L|L	0.54323|0.54323	1.7|1.7	0.43300|0.43300	D|D	0.995294|0.995294	B;B;B;B|.	0.34329|.	0.449;0.053;0.305;0.305|.	B;B;B;B|.	0.35353|.	0.201;0.068;0.111;0.111|.	T|T	0.68179|0.68179	-0.5477|-0.5477	10|5	0.22109|.	T|.	0.4|.	-13.7493|-13.7493	18.4989|18.4989	0.90875|0.90875	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	641;696;702;757|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	G|W	696;641;757;757|640;695;701	ENSP00000347312:R696G;ENSP00000441628:R641G;ENSP00000426070:R757G|.	ENSP00000265193:R757G|.	R|S	-|-	1|2	0|0	TRPC7|TRPC7	135588935|135588935	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.897000|0.897000	0.52465|0.52465	5.746000|5.746000	0.68681|0.68681	2.605000|2.605000	0.88082|0.88082	0.655000|0.655000	0.94253|0.94253	CGC|TCG		0.448	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1		NM_020389	
TTC21A	199223	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	39179047	39179047	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:39179047G>T	ENST00000431162.2	+	26	3676	c.3542G>T	c.(3541-3543)cGt>cTt	p.R1181L	TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000440121.1_Missense_Mutation_p.R1133L|TTC21A_ENST00000301819.6_Missense_Mutation_p.R1182L			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1181								p.R1182L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCCAAGGCGCGTATGCAGTTG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											66.0	75.0	72.0					3																	39179047		2101	4227	6328	SO:0001583	missense	199223			AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.3542G>T	3.37:g.39179047G>T	ENSP00000398211:p.Arg1181Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Missense_Mutation	SNP	ENST00000431162.2	37	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.788429	0.70337	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	T;T;T	0.73047	-0.71;-0.71;-0.71	4.1	4.1	0.47936	Tetratricopeptide-like helical (1);	0.198644	0.30118	N	0.010370	D	0.84597	0.5507	M	0.88640	2.97	0.50171	D	0.999857	D;D;D	0.69078	0.997;0.997;0.994	D;D;P	0.70487	0.969;0.917;0.829	D	0.84765	0.0764	10	0.25106	T	0.35	-5.0768	15.0874	0.72165	0.0:0.0:1.0:0.0	.	1133;1182;1181	Q8NDW8-6;Q8NDW8-7;Q8NDW8	.;.;TT21A_HUMAN	L	1182;1164;1181;1133	ENSP00000301819:R1182L;ENSP00000398211:R1181L;ENSP00000410882:R1133L	ENSP00000301819:R1182L	R	+	2	0	TTC21A	39154051	1.000000	0.71417	0.996000	0.52242	0.179000	0.23085	9.240000	0.95396	1.809000	0.52856	0.313000	0.20887	CGT		0.612	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1		NM_145755	
TTYH2	94015	hgsc.bcm.edu;ucsc.edu	37	17	72240168	72240168	+	Missense_Mutation	SNP	G	G	A	rs35682745	byFrequency	TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:72240168G>A	ENST00000269346.4	+	6	858	c.784G>A	c.(784-786)Gct>Act	p.A262T	TTYH2_ENST00000529107.1_Missense_Mutation_p.A241T|TTYH2_ENST00000534346.1_3'UTR	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	262			A -> T (in dbSNP:rs35682745). {ECO:0000269|PubMed:15489334}.			chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ATCCCTGGCCGCTGATGGCTC	0.652													G|||	545	0.108826	0.0847	0.1556	5008	,	,		13730	0.0486		0.1511	False		,,,				2504	0.1268																0								G	THR/ALA	513,3893	232.0+/-245.7	34,445,1724	69.0	64.0	66.0		784	3.2	0.0	17	dbSNP_126	66	1327,7273	260.6+/-283.4	108,1111,3081	yes	missense	TTYH2	NM_032646.5	58	142,1556,4805	AA,AG,GG		15.4302,11.6432,14.1473	benign	262/535	72240168	1840,11166	2203	4300	6503	SO:0001583	missense	94015				CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.784G>A	17.37:g.72240168G>A	ENSP00000269346:p.Ala262Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	CCDS32717.1	230	0.10531135531135531	39	0.07926829268292683	50	0.13812154696132597	25	0.043706293706293704	116	0.15303430079155672	G	15.05	2.716813	0.48622	0.116432	0.154302	ENSG00000141540	ENST00000269346;ENST00000529107	T;T	0.12255	2.7;2.7	5.21	3.16	0.36331	.	0.292448	0.37261	N	0.002167	T	0.00109	0.0003	M	0.78223	2.4	0.20489	P	0.999897314	B;B	0.17667	0.023;0.009	B;B	0.15484	0.01;0.013	T	0.04153	-1.0973	9	0.46703	T	0.11	-4.1565	8.8593	0.35247	0.1856:0.0:0.8144:0.0	rs35682745;rs62065674	241;262	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	T	262;241	ENSP00000269346:A262T;ENSP00000433089:A241T	ENSP00000269346:A262T	A	+	1	0	TTYH2	69751763	0.860000	0.29831	0.028000	0.17463	0.195000	0.23768	4.109000	0.57824	0.536000	0.28733	-0.493000	0.04662	GCT		0.652	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1			
TYRP1	7306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	12708083	12708083	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr9:12708083A>G	ENST00000388918.5	+	7	1477	c.1348A>G	c.(1348-1350)Aca>Gca	p.T450A	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Missense_Mutation_p.T159A|TYRP1_ENST00000381136.2_Missense_Mutation_p.T160A|TYRP1_ENST00000473504.1_3'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	450					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.T450A(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AGTCACCAACACAGAAATGTT	0.378									Oculocutaneous Albinism																																								1	Substitution - Missense(1)	kidney(1)											78.0	78.0	78.0					9																	12708083		2203	4300	6503	SO:0001583	missense	7306	Familial Cancer Database		L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.1348A>G	9.37:g.12708083A>G	ENSP00000373570:p.Thr450Ala	Somatic		WXS	Illumina HiSeq	Phase_I	P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	A	8.500	0.864003	0.17250	.	.	ENSG00000107165	ENST00000381137;ENST00000388918;ENST00000381136	D;D;D	0.98666	-5.06;-5.06;-5.06	5.68	2.88	0.33553	Uncharacterised domain, di-copper centre (2);	0.578821	0.20576	N	0.089639	D	0.93242	0.7847	N	0.05487	-0.04	0.23926	N	0.996441	B	0.02656	0.0	B	0.04013	0.001	D	0.84772	0.0768	10	0.10636	T	0.68	-29.7774	8.9992	0.36072	0.8169:0.0:0.1831:0.0	.	450	P17643	TYRP1_HUMAN	A	159;450;160	ENSP00000370529:T159A;ENSP00000373570:T450A;ENSP00000370528:T160A	ENSP00000370528:T160A	T	+	1	0	TYRP1	12698083	0.991000	0.36638	0.946000	0.38457	0.997000	0.91878	1.123000	0.31308	0.683000	0.31428	0.482000	0.46254	ACA		0.378	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3		NM_000550	
UBLCP1	134510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	158697539	158697539	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:158697539A>T	ENST00000296786.6	+	5	662	c.336A>T	c.(334-336)gaA>gaT	p.E112D		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	112						nucleolus (GO:0005730)|nucleus (GO:0005634)	phosphoprotein phosphatase activity (GO:0004721)	p.E112D(1)		endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCATTAGGGAAGAAAACCTAC	0.343																																																	1	Substitution - Missense(1)	kidney(1)											59.0	63.0	62.0					5																	158697539		2202	4299	6501	SO:0001583	missense	134510			AK057996	CCDS4345.1	5q33.3	2010-06-21			ENSG00000164332	ENSG00000164332	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	28110	protein-coding gene	gene with protein product	"""CTD phosphatase-like with ubiquitin domain 1"""	609867				15883030	Standard	NM_145049		Approved	MGC10067, CPUB1	uc003lxq.2	Q8WVY7	OTTHUMG00000130305	ENST00000296786.6:c.336A>T	5.37:g.158697539A>T	ENSP00000296786:p.Glu112Asp	Somatic		WXS	Illumina HiSeq	Phase_I	D3DQJ7|Q96DK5	Missense_Mutation	SNP	ENST00000296786.6	37	CCDS4345.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.856175	0.51376	.	.	ENSG00000164332	ENST00000296786	.	.	.	5.79	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.52354	0.1729	L	0.58669	1.825	0.50813	D	0.999892	D	0.54964	0.969	P	0.48654	0.585	T	0.44922	-0.9296	9	0.32370	T	0.25	-26.469	10.2553	0.43394	0.8568:0.0:0.1432:0.0	.	112	Q8WVY7	UBCP1_HUMAN	D	112	.	ENSP00000296786:E112D	E	+	3	2	UBLCP1	158630117	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	2.377000	0.44300	0.370000	0.24538	0.460000	0.39030	GAA		0.343	UBLCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252650.2		NM_145049	
UBN1	29855	broad.mit.edu;ucsc.edu	37	16	4925034	4925034	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:4925034A>G	ENST00000396658.4	+	14	3326	c.2623A>G	c.(2623-2625)Acc>Gcc	p.T875A	UBN1_ENST00000590769.1_Missense_Mutation_p.T875A|UBN1_ENST00000545171.1_Missense_Mutation_p.T875A|UBN1_ENST00000262376.6_Missense_Mutation_p.T875A	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	875	Ser-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T875A(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CTCTCACAAGACCCCAGCCTC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											59.0	59.0	59.0					16																	4925034		2197	4300	6497	SO:0001583	missense	29855			AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.2623A>G	16.37:g.4925034A>G	ENSP00000379894:p.Thr875Ala	Somatic		WXS	Illumina GAIIx	Phase_I	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Missense_Mutation	SNP	ENST00000396658.4	37	CCDS10525.1	.	.	.	.	.	.	.	.	.	.	A	14.66	2.602916	0.46423	.	.	ENSG00000118900	ENST00000262376;ENST00000545171;ENST00000396658	T;T;T	0.42900	1.54;0.96;1.54	5.2	2.94	0.34122	.	0.634676	0.15921	N	0.238124	T	0.22898	0.0553	L	0.27053	0.805	0.27082	N	0.963057	B;P	0.39665	0.073;0.682	B;B	0.28385	0.022;0.089	T	0.08452	-1.0721	10	0.46703	T	0.11	-0.0334	6.7351	0.23405	0.7693:0.1533:0.0774:0.0	.	875;875	Q9NPG3-2;Q9NPG3	.;UBN1_HUMAN	A	875	ENSP00000262376:T875A;ENSP00000442379:T875A;ENSP00000379894:T875A	ENSP00000262376:T875A	T	+	1	0	UBN1	4865035	0.325000	0.24660	0.991000	0.47740	0.978000	0.69477	0.836000	0.27545	0.434000	0.26340	0.460000	0.39030	ACC		0.572	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1		NM_016936	
UBN2	254048	broad.mit.edu;hgsc.bcm.edu	37	7	138958118	138958118	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:138958118A>G	ENST00000473989.3	+	10	1791	c.1791A>G	c.(1789-1791)atA>atG	p.I597M	UBN2_ENST00000288561.8_Missense_Mutation_p.I514M	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	597						extracellular space (GO:0005615)|nucleus (GO:0005634)		p.I514M(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AACGTGTCATAGGACCAAGAA	0.318																																																	1	Substitution - Missense(1)	kidney(1)											152.0	146.0	148.0					7																	138958118		1846	4097	5943	SO:0001583	missense	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1791A>G	7.37:g.138958118A>G	ENSP00000418648:p.Ile597Met	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	CCDS43655.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	3.381|3.381	-0.126299|-0.126299	0.06795|0.06795	.|.	.|.	ENSG00000157741|ENSG00000157741	ENST00000473989;ENST00000288561|ENST00000483726	T;T|.	0.40756|.	1.02;1.02|.	5.44|5.44	-2.4|-2.4	0.06583|0.06583	.|.	0.134911|.	0.64402|.	D|.	0.000005|.	T|.	0.06508|.	0.0167|.	N|N	0.00823|0.00823	-1.155|-1.155	0.30559|0.30559	N|N	0.764707|0.764707	B|.	0.19445|.	0.036|.	B|.	0.22880|.	0.042|.	T|.	0.37842|.	-0.9688|.	10|.	0.02654|.	T|.	1|.	-10.6821|-10.6821	1.1278|1.1278	0.01739|0.01739	0.3125:0.3026:0.1142:0.2707|0.3125:0.3026:0.1142:0.2707	.|.	597|.	Q6ZU65|.	UBN2_HUMAN|.	M|W	597;514|366	ENSP00000418648:I597M;ENSP00000288561:I514M|.	ENSP00000288561:I514M|.	I|X	+|+	3|2	3|0	UBN2|UBN2	138608658|138608658	0.997000|0.997000	0.39634|0.39634	0.996000|0.996000	0.52242|0.52242	0.983000|0.983000	0.72400|0.72400	0.415000|0.415000	0.21181|0.21181	-0.190000|-0.190000	0.10465|0.10465	0.477000|0.477000	0.44152|0.44152	ATA|TAG		0.318	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3		NM_173569	
UBOX5	22888	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3103217	3103217	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr20:3103217C>T	ENST00000217173.2	-	3	539	c.68G>A	c.(67-69)gGt>gAt	p.G23D	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.G23D	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5									p.G23D(1)		endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TACTTCGTAACCATCAGCTGA	0.363																																																	1	Substitution - Missense(1)	kidney(1)											53.0	54.0	54.0					20																	3103217		2202	4300	6502	SO:0001583	missense	22888			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.68G>A	20.37:g.3103217C>T	ENSP00000217173:p.Gly23Asp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000217173.2	37	CCDS13046.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.913392	0.72983	.	.	ENSG00000185019	ENST00000217173;ENST00000348031;ENST00000449731	T;T;T	0.46451	0.87;0.87;0.87	5.2	5.2	0.72013	.	0.000000	0.85682	U	0.000000	T	0.67249	0.2873	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.997	T	0.69807	-0.5045	10	0.52906	T	0.07	-7.059	18.7354	0.91751	0.0:1.0:0.0:0.0	.	23;23;23	Q53GQ5;Q86X87;O94941	.;.;RNF37_HUMAN	D	23	ENSP00000217173:G23D;ENSP00000311726:G23D;ENSP00000404364:G23D	ENSP00000217173:G23D	G	-	2	0	UBOX5	3051217	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.695000	0.68279	2.412000	0.81896	0.557000	0.71058	GGT		0.363	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077706.2		NM_014948	
UBR4	23352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	19471346	19471346	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:19471346G>A	ENST00000375254.3	-	54	8028	c.8001C>T	c.(7999-8001)taC>taT	p.Y2667Y	UBR4_ENST00000375226.2_Silent_p.Y2678Y|UBR4_ENST00000375267.2_Silent_p.Y2667Y|UBR4_ENST00000375217.2_Silent_p.Y2695Y	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2667					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Y2667Y(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CACAGGTACAGTAGCCATGGA	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											149.0	127.0	134.0					1																	19471346		2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.8001C>T	1.37:g.19471346G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	ENST00000375254.3	37	CCDS189.1																																																																																				0.428	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765	
UGT1A1	54658	broad.mit.edu;hgsc.bcm.edu	37	2	234526756	234526757	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:234526756_234526757insA	ENST00000373450.4	+	1	466_467	c.403_404insA	c.(403-405)gaafs	p.E135fs		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A1	138					acute-phase response (GO:0006953)|bilirubin conjugation (GO:0006789)|biphenyl catabolic process (GO:0070980)|cellular glucuronidation (GO:0052695)|cellular response to ethanol (GO:0071361)|cellular response to glucocorticoid stimulus (GO:0071385)|digestion (GO:0007586)|drug metabolic process (GO:0017144)|estrogen metabolic process (GO:0008210)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|heme catabolic process (GO:0042167)|heterocycle metabolic process (GO:0046483)|liver development (GO:0001889)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of steroid metabolic process (GO:0045939)|organ regeneration (GO:0031100)|porphyrin-containing compound metabolic process (GO:0006778)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	cytochrome complex (GO:0070069)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|steroid binding (GO:0005496)			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Acetaminophen(DB00316)|Adenine(DB00173)|Atorvastatin(DB01076)|Axitinib(DB06626)|Diclofenac(DB00586)|Dolutegravir(DB08930)|Eltrombopag(DB06210)|Erlotinib(DB00530)|Estradiol(DB00783)|Etoposide(DB00773)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indacaterol(DB05039)|Indomethacin(DB00328)|Irinotecan(DB00762)|Losartan(DB00678)|Lovastatin(DB00227)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naltrexone(DB00704)|Naproxen(DB00788)|Nilotinib(DB04868)|Pazopanib(DB06589)|Propofol(DB00818)|Raltegravir(DB06817)|Regorafenib(DB08896)|Rifampicin(DB01045)|Simvastatin(DB00641)|Sorafenib(DB00398)|Suprofen(DB00870)|Testosterone Propionate(DB01420)	AAAATTAGTAGAATACTTAAAG	0.361																																																	0																																										SO:0001589	frameshift_variant	54576			M57899	CCDS2510.1	2q37.1	2014-09-17	2005-07-20		ENSG00000242366	ENSG00000242366	2.4.1.17	"""UDP glucuronosyltransferases"""	12530	other	complex locus constituent		191740	"""UDP glycosyltransferase 1 family, polypeptide A1"""	UGT1, GNT1		9295054, 9535849	Standard	NM_000463		Approved	UGT1A		P22309	OTTHUMG00000059117	ENST00000373450.4:c.405dupA	2.37:g.234526758_234526758dupA	ENSP00000362549:p.Glu135fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJC3|B8K286	Frame_Shift_Ins	INS	ENST00000373450.4	37	CCDS33402.1																																																																																				0.361	UGT1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130994.1			
KRT16P2	400578	broad.mit.edu	37	17	16735046	16735046	+	RNA	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr17:16735046G>A	ENST00000579062.1	-	0	406									keratin 16 pseudogene 2									p.A165V(1)									TGCCAGCCTGGCATTGTCAAT	0.582																																																	1	Substitution - Missense(1)	kidney(1)																																										0					17p11.2	2010-02-25			ENSG00000227300	ENSG00000227300			37807	pseudogene	pseudogene							Standard	NR_029392		Approved		uc010vwr.1		OTTHUMG00000059177		17.37:g.16735046G>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000579062.1	37																																																																																					0.582	KRT16P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444288.2		NR_029392	
BCRP7	100133163	broad.mit.edu	37	22	18844766	18844766	+	3'UTR	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr22:18844766G>A	ENST00000412938.1	+	0	3016																											CAGCCTCTGAGGGCAGCAGTG	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	0																														ENST00000412938.1:c.*3013G>A	22.37:g.18844766G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000412938.1	37																																																																																					0.557	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			
Unknown	0	broad.mit.edu	37	9	69440119	69440119	+	IGR	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr9:69440119C>A								ANKRD20A4 (14559 upstream) : AL445665.2 (147258 downstream)														p.S68Y(1)									GAGTTTTTATCTATGAAAAAA	0.313																																																	1	Substitution - Missense(1)	kidney(1)											13.0	17.0	16.0					9																	69440119		1593	3689	5282	SO:0001628	intergenic_variant	0																															9.37:g.69440119C>A		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.313									
USP34	9736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61431456	61431456	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:61431456T>C	ENST00000398571.2	-	74	9395	c.9319A>G	c.(9319-9321)Aat>Gat	p.N3107D		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3107					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.N3107D(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GGCCGAATATTGCTTTTCCCT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											113.0	109.0	110.0					2																	61431456		1864	4109	5973	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9319A>G	2.37:g.61431456T>C	ENSP00000381577:p.Asn3107Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.842639	0.51057	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000436269	T	0.03607	3.87	6.03	6.03	0.97812	.	0.043193	0.85682	D	0.000000	T	0.05044	0.0135	L	0.36672	1.1	0.80722	D	1	P	0.42735	0.788	B	0.38985	0.287	T	0.47407	-0.9120	10	0.45353	T	0.12	.	16.5724	0.84622	0.0:0.0:0.0:1.0	.	3107	Q70CQ2	UBP34_HUMAN	D	2955;2872;3107;4	ENSP00000381577:N3107D	ENSP00000263989:N2955D	N	-	1	0	USP34	61284960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.313000	0.78055	0.455000	0.32223	AAT		0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			
VCAN	1462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	82815673	82815673	+	Silent	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr5:82815673T>G	ENST00000265077.3	+	7	2113	c.1548T>G	c.(1546-1548)acT>acG	p.T516T	VCAN_ENST00000512590.2_Silent_p.T468T|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Silent_p.T516T|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	516	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.T516T(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCCCTGTAACTGAAACACCAT	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											124.0	123.0	123.0					5																	82815673		2203	4300	6503	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.1548T>G	5.37:g.82815673T>G		Somatic		WXS	Illumina HiSeq	Phase_I	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.388	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385	
VPS37C	55048	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	60899492	60899492	+	Silent	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr11:60899492T>G	ENST00000301765.5	-	5	1100	c.868A>C	c.(868-870)Agg>Cgg	p.R290R		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	290	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)		p.R290R(1)		breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						CTGGGGGCCCTGCCTCCCCGC	0.647																																																	1	Substitution - coding silent(1)	kidney(1)											26.0	27.0	27.0					11																	60899492		2116	4115	6231	SO:0001819	synonymous_variant	55048			AK097326	CCDS31573.1	11q12.2	2008-02-05	2006-04-04			ENSG00000167987			26097	protein-coding gene	gene with protein product		610038	"""vacuolar protein sorting 37C (yeast)"""			15509564	Standard	XM_005274077		Approved	FLJ20847	uc001nqv.1	A5D8V6		ENST00000301765.5:c.868A>C	11.37:g.60899492T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q8N3K4	Silent	SNP	ENST00000301765.5	37	CCDS31573.1																																																																																				0.647	VPS37C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396467.1		NM_017966	
WDR33	55339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	128477700	128477700	+	Silent	SNP	T	T	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr2:128477700T>A	ENST00000322313.4	-	16	2057	c.1899A>T	c.(1897-1899)ggA>ggT	p.G633G		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	633	Collagen-like.				mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G633G(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTCCCATTTGTCCCTGGGGTC	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											64.0	62.0	63.0					2																	128477700		2203	4300	6503	SO:0001819	synonymous_variant	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1899A>T	2.37:g.128477700T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Silent	SNP	ENST00000322313.4	37	CCDS2150.1																																																																																				0.617	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2		NM_018383	
CFAP57	149465	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	43649511	43649511	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr1:43649511G>A	ENST00000372492.4	+	4	1048	c.724G>A	c.(724-726)Ggc>Agc	p.G242S	WDR65_ENST00000528956.1_Missense_Mutation_p.G242S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		242								p.G242S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTACCAATGGCTCAAAGAG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											134.0	130.0	132.0					1																	43649511		2203	4300	6503	SO:0001583	missense	149465																														ENST00000372492.4:c.724G>A	1.37:g.43649511G>A	ENSP00000361570:p.Gly242Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	ENST00000372492.4	37		.	.	.	.	.	.	.	.	.	.	G	11.06	1.527567	0.27299	.	.	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.05382	3.45;3.45	6.07	4.2	0.49525	Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	1.023860	0.07735	N	0.945995	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B;B	0.12630	0.0;0.006	B;B	0.15052	0.001;0.012	T	0.40496	-0.9560	10	0.06625	T	0.88	.	8.9202	0.35607	0.1601:0.0:0.8399:0.0	.	242;242	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	S	242	ENSP00000361570:G242S;ENSP00000435310:G242S	ENSP00000361570:G242S	G	+	1	0	WDR65	43422098	0.489000	0.26004	0.001000	0.08648	0.005000	0.04900	2.484000	0.45242	0.881000	0.35993	0.655000	0.94253	GGC		0.483	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000384325.1			
XYLT1	64131	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	17202837	17202837	+	Silent	SNP	A	A	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr16:17202837A>G	ENST00000261381.6	-	12	2679	c.2595T>C	c.(2593-2595)aaT>aaC	p.N865N		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	865					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)	p.N865N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCATGTAGGCATTGCGGAGGG	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											88.0	90.0	89.0					16																	17202837		2197	4300	6497	SO:0001819	synonymous_variant	64131			AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2595T>C	16.37:g.17202837A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H1B6	Silent	SNP	ENST00000261381.6	37	CCDS10569.1																																																																																				0.572	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2		NM_022166	
ZBBX	79740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167000224	167000224	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:167000224T>G	ENST00000392766.2	-	19	2279	c.1939A>C	c.(1939-1941)Agc>Cgc	p.S647R	ZBBX_ENST00000455345.2_Missense_Mutation_p.S686R|ZBBX_ENST00000307529.5_Missense_Mutation_p.S686R|ZBBX_ENST00000392767.2_Missense_Mutation_p.S647R|ZBBX_ENST00000392764.1_Missense_Mutation_p.S618R	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	647	Ser-rich.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S686R(1)|p.S647R(1)		NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CAACTGGAGCTTTCTTTAACA	0.338																																																	2	Substitution - Missense(2)	kidney(2)											142.0	137.0	138.0					3																	167000224		1835	4075	5910	SO:0001583	missense	79740			AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1939A>C	3.37:g.167000224T>G	ENSP00000376519:p.Ser647Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	T	3.480	-0.106059	0.06924	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11385	2.95;2.95;2.96;2.96;2.78	5.28	-3.49	0.04724	.	1.164510	0.06015	N	0.650203	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.12156	0.007;0.002	T	0.40905	-0.9538	10	0.39692	T	0.17	9.0629	2.2678	0.04083	0.1336:0.3735:0.1364:0.3565	.	686;647	A8MT70-2;A8MT70	.;ZBBX_HUMAN	R	647;647;686;686;618	ENSP00000376519:S647R;ENSP00000376520:S647R;ENSP00000390232:S686R;ENSP00000305065:S686R;ENSP00000376517:S618R	ENSP00000305065:S686R	S	-	1	0	ZBBX	168482918	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.597000	0.05713	-0.517000	0.06461	0.528000	0.53228	AGC		0.338	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3		NM_024687	
ZHX1	11244	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	124265779	124265779	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr8:124265779A>T	ENST00000522655.1	-	3	2948	c.2408T>A	c.(2407-2409)cTt>cAt	p.L803H	ZHX1_ENST00000297857.2_Missense_Mutation_p.L803H|ZHX1_ENST00000522595.1_5'Flank|ZHX1_ENST00000395571.3_Missense_Mutation_p.L803H|ZHX1-C8ORF76_ENST00000357082.4_Intron			Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	803					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.L803H(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTGTTAACAAGTTCATCAAG	0.368																																																	1	Substitution - Missense(1)	kidney(1)											187.0	186.0	186.0					8																	124265779		2203	4300	6503	SO:0001583	missense	11244			AF106862	CCDS6342.1	8q24.13	2012-03-09	2004-01-23		ENSG00000165156	ENSG00000165156		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	12871	protein-coding gene	gene with protein product		604764	"""zinc-fingers and homeoboxes 1"""			10441475	Standard	NM_001017926		Approved		uc003yqe.3	Q9UKY1	OTTHUMG00000165088	ENST00000522655.1:c.2408T>A	8.37:g.124265779A>T	ENSP00000428821:p.Leu803His	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IWD8	Missense_Mutation	SNP	ENST00000522655.1	37	CCDS6342.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.015689|4.015689	0.75161|0.75161	.|.	.|.	ENSG00000165156|ENSG00000165156	ENST00000297857;ENST00000395571;ENST00000522655|ENST00000520474	T;T;T|T	0.55052|0.57595	0.54;0.54;0.54|0.39	5.8|5.8	5.8|5.8	0.92144|0.92144	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.69468|0.69468	0.3114|0.3114	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.68765|.	0.96|.	T|T	0.73353|0.73353	-0.4009|-0.4009	9|7	0.87932|0.87932	D|D	0|0	-8.0411|-8.0411	16.1484|16.1484	0.81586|0.81586	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	803|.	Q9UKY1|.	ZHX1_HUMAN|.	H|M	803|488	ENSP00000297857:L803H;ENSP00000378938:L803H;ENSP00000428821:L803H|ENSP00000428676:L488M	ENSP00000297857:L803H|ENSP00000428676:L488M	L|L	-|-	2|1	0|2	ZHX1|ZHX1	124334960|124334960	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.757000|6.757000	0.74924|0.74924	2.226000|2.226000	0.72624|0.72624	0.459000|0.459000	0.35465|0.35465	CTT|TTG		0.368	ZHX1-003	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000381759.1			
ZFAT	57623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	135622881	135622881	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr8:135622881C>G	ENST00000377838.3	-	4	640	c.466G>C	c.(466-468)Gaa>Caa	p.E156Q	ZFAT_ENST00000523399.1_Intron|ZFAT_ENST00000520356.1_Missense_Mutation_p.E144Q|ZFAT_ENST00000429442.2_Missense_Mutation_p.E144Q|ZFAT_ENST00000520727.1_Missense_Mutation_p.E144Q|ZFAT_ENST00000520214.1_Missense_Mutation_p.E144Q	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	156					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.E156Q(1)|p.E144Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTTTCTAGTTCAAGGTCAGAC	0.438																																																	2	Substitution - Missense(2)	kidney(2)											150.0	139.0	142.0					8																	135622881		1917	4122	6039	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.466G>C	8.37:g.135622881C>G	ENSP00000367069:p.Glu156Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	ENST00000377838.3	37	CCDS47924.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534336	0.45073	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000398946;ENST00000522257	T;T;T;T;T;T	0.46819	2.99;2.93;2.94;2.92;2.93;0.86	5.36	5.36	0.76844	.	0.456353	0.23549	N	0.046983	T	0.40423	0.1116	L	0.27053	0.805	0.80722	D	1	B;P;B	0.37330	0.201;0.59;0.319	B;B;B	0.43082	0.143;0.407;0.096	T	0.24261	-1.0165	10	0.37606	T	0.19	-15.7406	11.5429	0.50677	0.0:0.9183:0.0:0.0817	.	144;144;156	E9PBN4;Q9P243-3;Q9P243	.;.;ZFAT_HUMAN	Q	144;144;144;156;144;144;144;94	ENSP00000427879:E144Q;ENSP00000427831:E144Q;ENSP00000394501:E144Q;ENSP00000367069:E156Q;ENSP00000428483:E144Q;ENSP00000429983:E94Q	ENSP00000326997:E144Q	E	-	1	0	ZFAT	135692063	1.000000	0.71417	0.989000	0.46669	0.999000	0.98932	2.341000	0.43983	2.498000	0.84270	0.655000	0.94253	GAA		0.438	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1		NM_001029939	
MSS51	118490	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	75185797	75185797	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr10:75185797C>T	ENST00000372912.1	-	4	843	c.841G>A	c.(841-843)Ggg>Agg	p.G281R	MSS51_ENST00000299432.2_Missense_Mutation_p.G281R|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	281					social behavior (GO:0035176)		metal ion binding (GO:0046872)	p.G281R(1)									TCATAGTCCCCTGGGCGAGTA	0.532																																																	1	Substitution - Missense(1)	kidney(1)											82.0	79.0	80.0					10																	75185797		2203	4300	6503	SO:0001583	missense	0			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.841G>A	10.37:g.75185797C>T	ENSP00000362003:p.Gly281Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	37	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.106273	0.37145	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.42900	0.96;0.96	5.39	4.49	0.54785	.	0.373950	0.28790	N	0.014123	T	0.30634	0.0771	L	0.41236	1.265	0.28448	N	0.916497	B	0.11235	0.004	B	0.08055	0.003	T	0.14699	-1.0463	9	.	.	.	-0.0679	8.0951	0.30824	0.0:0.8241:0.0:0.1759	.	281	Q4VC12	ZMY17_HUMAN	R	281	ENSP00000299432:G281R;ENSP00000362003:G281R	.	G	-	1	0	ZMYND17	74855803	1.000000	0.71417	0.897000	0.35233	0.967000	0.64934	4.542000	0.60677	1.506000	0.48736	0.650000	0.86243	GGG		0.532	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3		NM_178451	
ZNF536	9745	broad.mit.edu	37	19	30936491	30936491	+	Silent	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:30936491G>A	ENST00000355537.3	+	2	2169	c.2022G>A	c.(2020-2022)tcG>tcA	p.S674S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	674					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)	p.S674S(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCGTGGCTCGGGCAGTGACC	0.697																																																	2	Substitution - coding silent(2)	breast(1)|kidney(1)											32.0	36.0	35.0					19																	30936491		2202	4296	6498	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2022G>A	19.37:g.30936491G>A		Somatic		WXS	Illumina GAIIx	Phase_I	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				0.697	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2		NM_014717	
ZNF600	162966	broad.mit.edu;hgsc.bcm.edu	37	19	53269213	53269213	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:53269213C>G	ENST00000338230.3	-	3	2063	c.1796G>C	c.(1795-1797)aGa>aCa	p.R599T		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	599					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.R599T(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTGGTATGTCTTGCCAGGTA	0.393																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												1	Substitution - Missense(1)	kidney(1)											163.0	158.0	160.0					19																	53269213		2203	4300	6503	SO:0001583	missense	162966			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1796G>C	19.37:g.53269213C>G	ENSP00000344791:p.Arg599Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	0.083	-1.179933	0.01633	.	.	ENSG00000189190	ENST00000338230	T	0.07327	3.2	1.51	-1.73	0.08081	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05823	0.0152	L	0.48642	1.525	0.09310	N	1	B	0.28605	0.217	B	0.31547	0.132	T	0.44802	-0.9304	9	0.10902	T	0.67	.	1.3316	0.02136	0.2137:0.4266:0.2108:0.1488	.	599	Q6ZNG1	ZN600_HUMAN	T	599	ENSP00000344791:R599T	ENSP00000344791:R599T	R	-	2	0	ZNF600	57961025	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.288000	0.08377	-0.526000	0.06383	-1.038000	0.02383	AGA		0.393	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1		NM_198457	
ZNF600	162966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	53269727	53269727	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:53269727C>A	ENST00000338230.3	-	3	1549	c.1282G>T	c.(1282-1284)Gat>Tat	p.D428Y		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	428					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.D428Y(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		ATTAGAAGATCTGAATTTTGA	0.363																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												1	Substitution - Missense(1)	kidney(1)											94.0	93.0	94.0					19																	53269727		2203	4300	6503	SO:0001583	missense	162966			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1282G>T	19.37:g.53269727C>A	ENSP00000344791:p.Asp428Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.076573	0.00375	.	.	ENSG00000189190	ENST00000338230	T	0.07800	3.16	1.57	-3.14	0.05250	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03651	0.0104	N	0.21324	0.655	0.09310	N	1	P	0.47350	0.894	B	0.38156	0.266	T	0.15492	-1.0435	9	0.22109	T	0.4	.	1.3326	0.02138	0.1239:0.2704:0.222:0.3837	.	428	Q6ZNG1	ZN600_HUMAN	Y	428	ENSP00000344791:D428Y	ENSP00000344791:D428Y	D	-	1	0	ZNF600	57961539	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-8.388000	0.00021	-2.645000	0.00427	-0.901000	0.02856	GAT		0.363	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1		NM_198457	
ZNF600	162966	broad.mit.edu;hgsc.bcm.edu	37	19	53269746	53269746	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr19:53269746C>A	ENST00000338230.3	-	3	1530	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	421					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.K421N(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GACCAAAGGTCTTCCCACATT	0.373																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												1	Substitution - Missense(1)	kidney(1)											102.0	101.0	102.0					19																	53269746		2203	4300	6503	SO:0001583	missense	162966			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1263G>T	19.37:g.53269746C>A	ENSP00000344791:p.Lys421Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6MZR0	Missense_Mutation	SNP	ENST00000338230.3	37	CCDS12856.1	.	.	.	.	.	.	.	.	.	.	.	11.97	1.797291	0.31777	.	.	ENSG00000189190	ENST00000338230	T	0.27890	1.64	1.57	-3.14	0.05250	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50599	0.1625	M	0.87269	2.87	0.09310	N	0.999996	D	0.76494	0.999	D	0.83275	0.996	T	0.43621	-0.9380	9	0.87932	D	0	.	2.6075	0.04882	0.2131:0.4238:0.0:0.3631	.	421	Q6ZNG1	ZN600_HUMAN	N	421	ENSP00000344791:K421N	ENSP00000344791:K421N	K	-	3	2	ZNF600	57961558	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.669000	0.01958	-0.925000	0.03775	0.298000	0.19748	AAG		0.373	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463093.1		NM_198457	
ZNF609	23060	hgsc.bcm.edu	37	15	64968215	64968215	+	Silent	SNP	C	C	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr15:64968215C>A	ENST00000326648.3	+	4	3290	c.3162C>A	c.(3160-3162)ccC>ccA	p.P1054P		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1054						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAAGGCCCCCAGCCTGACAG	0.552																																																	0													72.0	73.0	73.0					15																	64968215		2203	4299	6502	SO:0001819	synonymous_variant	23060			BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.3162C>A	15.37:g.64968215C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q0D2I2	Silent	SNP	ENST00000326648.3	37	CCDS32270.1																																																																																				0.552	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1		XM_042833	
ZNF804B	219578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	88966113	88966113	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr7:88966113G>A	ENST00000333190.4	+	4	4426	c.3817G>A	c.(3817-3819)Gct>Act	p.A1273T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1273							metal ion binding (GO:0046872)	p.A1273T(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTTAGTAGCTGCTACCCCCTT	0.473										HNSCC(36;0.09)																																							1	Substitution - Missense(1)	kidney(1)											237.0	201.0	213.0					7																	88966113		2203	4300	6503	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.3817G>A	7.37:g.88966113G>A	ENSP00000329638:p.Ala1273Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.005591	0.35415	.	.	ENSG00000182348	ENST00000333190	T	0.20463	2.07	4.99	2.22	0.28083	.	0.296596	0.29376	N	0.012326	T	0.10680	0.0261	L	0.27053	0.805	0.35442	D	0.794925	P	0.41475	0.751	B	0.29663	0.105	T	0.28870	-1.0030	10	0.30854	T	0.27	-2.3282	10.118	0.42603	0.2775:0.0:0.7225:0.0	.	1273	A4D1E1	Z804B_HUMAN	T	1273	ENSP00000329638:A1273T	ENSP00000329638:A1273T	A	+	1	0	ZNF804B	88804049	0.914000	0.31030	0.301000	0.25044	0.955000	0.61496	1.600000	0.36762	0.384000	0.24942	0.655000	0.94253	GCT		0.473	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2		NM_181646	
ZPLD1	131368	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	102181210	102181210	+	Missense_Mutation	SNP	A	A	C	rs200052497		TCGA-CZ-5468-01A-01D-1501-10	TCGA-CZ-5468-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50c6b5a2-cd0e-4adf-b85f-0f9c1847477f	8cfcc68d-a85b-4f22-af99-5cc68d65559f	g.chr3:102181210A>C	ENST00000491959.1	+	13	1550	c.668A>C	c.(667-669)aAt>aCt	p.N223T	ZPLD1_ENST00000306176.1_Missense_Mutation_p.N239T|ZPLD1_ENST00000466937.1_Missense_Mutation_p.N223T			Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	223	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.					integral component of membrane (GO:0016021)		p.N239T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAAGCCACTAATTTGGATGGC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											48.0	53.0	51.0					3																	102181210		2203	4300	6503	SO:0001583	missense	131368			AY090780	CCDS2947.1	3q12.3	2009-03-25			ENSG00000170044	ENSG00000170044			27022	protein-coding gene	gene with protein product		615915				18632209	Standard	NM_175056		Approved		uc003dvt.1	Q8TCW7	OTTHUMG00000159229	ENST00000491959.1:c.668A>C	3.37:g.102181210A>C	ENSP00000420265:p.Asn223Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q49AS1|Q8WU36	Missense_Mutation	SNP	ENST00000491959.1	37		.	.	.	.	.	.	.	.	.	.	A	21.1	4.097698	0.76870	.	.	ENSG00000170044	ENST00000491959;ENST00000306176;ENST00000466937	D;D;D	0.82255	-1.59;-1.59;-1.59	5.18	5.18	0.71444	Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	M	0.72118	2.19	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.81914	0.995;0.991	D	0.87625	0.2512	10	0.24483	T	0.36	-0.2797	15.0184	0.71605	1.0:0.0:0.0:0.0	.	239;223	Q8TCW7-2;Q8TCW7	.;ZPLD1_HUMAN	T	223;239;223	ENSP00000420265:N223T;ENSP00000307801:N239T;ENSP00000418253:N223T	ENSP00000307801:N239T	N	+	2	0	ZPLD1	103663900	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.827000	0.92041	1.940000	0.56252	0.533000	0.62120	AAT		0.358	ZPLD1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353984.1		NM_175056	
