#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	215818763	215818763	+	Silent	SNP	G	G	A	rs200584463	byFrequency	TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:215818763G>A	ENST00000272895.7	-	44	6681	c.6462C>T	c.(6460-6462)taC>taT	p.Y2154Y	ABCA12_ENST00000389661.4_Silent_p.Y1836Y|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2154					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.Y2154Y(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)		CAATCAAACCGTAGCCAAAAC	0.353													G|||	6	0.00119808	0.0	0.0	5008	,	,		17618	0.0		0.0	False		,,,				2504	0.0061				Ovarian(66;664 1488 5121 34295)												1	Substitution - coding silent(1)	kidney(1)						G	,	0,4406		0,0,2203	97.0	101.0	99.0		5508,6462	-11.9	0.3	2		99	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ABCA12	NM_015657.3,NM_173076.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	1836/2278,2154/2596	215818763	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	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.6462C>T	2.37:g.215818763G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	CCDS33372.1																																																																																				0.353	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1		NM_173076	
ADAM10	102	broad.mit.edu;ucsc.edu	37	15	58938360	58938360	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr15:58938360C>T	ENST00000260408.3	-	6	1072	c.629G>A	c.(628-630)aGg>aAg	p.R210K	ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000396140.2_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	210					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.R210K(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		ACGTTTTTTCCTCAGAAGTTC	0.328																																																	1	Substitution - Missense(1)	kidney(1)											108.0	98.0	101.0					15																	58938360		2191	4292	6483	SO:0001583	missense	102			AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.629G>A	15.37:g.58938360C>T	ENSP00000260408:p.Arg210Lys	Somatic		WXS	Illumina GAIIx	Phase_I	B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314407	0.81358	.	.	ENSG00000137845	ENST00000260408;ENST00000396136	T	0.26957	1.7	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.35068	0.0919	M	0.81497	2.545	0.80722	D	1	B	0.32829	0.386	B	0.32805	0.153	T	0.18999	-1.0319	10	0.20046	T	0.44	-21.5184	19.3944	0.94601	0.0:1.0:0.0:0.0	.	210	O14672	ADA10_HUMAN	K	210;29	ENSP00000260408:R210K	ENSP00000260408:R210K	R	-	2	0	ADAM10	56725652	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.487000	0.81328	2.574000	0.86865	0.591000	0.81541	AGG		0.328	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2		NM_001110	
ADAMTS20	80070	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	43771275	43771275	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr12:43771275G>A	ENST00000389420.3	-	32	4887	c.4888C>T	c.(4888-4890)Cgg>Tgg	p.R1630W		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1630	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1630W(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACTATAGGCCGAAGTCGATGG	0.408																																																	1	Substitution - Missense(1)	kidney(1)											133.0	123.0	126.0					12																	43771275		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4888C>T	12.37:g.43771275G>A	ENSP00000374071:p.Arg1630Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	5.785	0.329103	0.10956	.	.	ENSG00000173157	ENST00000389420	T	0.60171	0.21	5.08	-1.6	0.08426	.	0.767160	0.11370	N	0.570964	T	0.38108	0.1028	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.12041	-1.0563	10	0.46703	T	0.11	.	12.1205	0.53889	0.2723:0.0:0.7277:0.0	.	1630	P59510	ATS20_HUMAN	W	1630	ENSP00000374071:R1630W	ENSP00000374071:R1630W	R	-	1	2	ADAMTS20	42057542	0.000000	0.05858	0.088000	0.20740	0.023000	0.10783	0.139000	0.16036	-0.095000	0.12351	-0.290000	0.09829	CGG		0.408	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1		NM_025003	
BIRC6	57448	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32673959	32673959	+	Silent	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:32673959C>A	ENST00000421745.2	+	22	4715	c.4581C>A	c.(4579-4581)gtC>gtA	p.V1527V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1527					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.V1499V(1)|p.V1527V(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCATTGGTGTCCAGTCAGATG	0.343																																					Pancreas(94;175 1509 16028 18060 45422)												2	Substitution - coding silent(2)	kidney(2)											132.0	133.0	133.0					2																	32673959		2203	4300	6503	SO:0001819	synonymous_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4581C>A	2.37:g.32673959C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9ULD1	Silent	SNP	ENST00000421745.2	37	CCDS33175.2																																																																																				0.343	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252	
BMS1	9790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	43292488	43292488	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr10:43292488C>T	ENST00000374518.5	+	10	1859	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	599					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.S599L(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAAGCTCCTCACTCAGTGCA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											67.0	69.0	68.0					10																	43292488		2203	4300	6503	SO:0001583	missense	9790			BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.1796C>T	10.37:g.43292488C>T	ENSP00000363642:p.Ser599Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	ENST00000374518.5	37	CCDS7199.1	.	.	.	.	.	.	.	.	.	.	c	8.917	0.960133	0.18507	.	.	ENSG00000165733	ENST00000374518	T	0.27104	1.69	4.68	2.74	0.32292	.	0.772618	0.12678	N	0.448225	T	0.15739	0.0379	N	0.22421	0.69	0.09310	N	1	B	0.32245	0.361	B	0.31812	0.136	T	0.23013	-1.0200	10	0.27082	T	0.32	.	7.4971	0.27496	0.1702:0.7439:0.0:0.0859	.	599	Q14692	BMS1_HUMAN	L	599	ENSP00000363642:S599L	ENSP00000363642:S599L	S	+	2	0	BMS1	42612494	0.052000	0.20516	0.008000	0.14137	0.837000	0.47467	0.858000	0.27845	0.460000	0.27045	0.549000	0.68633	TCA		0.458	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2		NM_014753	
C11orf30	56946	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	76256949	76256949	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr11:76256949C>G	ENST00000529032.1	+	19	3382	c.3382C>G	c.(3382-3384)Ctg>Gtg	p.L1128V	C11orf30_ENST00000525038.1_Missense_Mutation_p.L1129V|C11orf30_ENST00000533248.1_Missense_Mutation_p.L1037V|C11orf30_ENST00000524767.1_Missense_Mutation_p.L1143V|C11orf30_ENST00000334736.3_Missense_Mutation_p.L1128V|C11orf30_ENST00000525919.1_Missense_Mutation_p.L1129V|C11orf30_ENST00000524490.1_Missense_Mutation_p.L1030V|C11orf30_ENST00000343878.3_Intron			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	1128					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.L1128V(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TGTGCCTAAGCTGACATCACC	0.448																																																	1	Substitution - Missense(1)	kidney(1)											92.0	86.0	88.0					11																	76256949		2200	4292	6492	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.3382C>G	11.37:g.76256949C>G	ENSP00000432327:p.Leu1128Val	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	ENST00000529032.1	37	CCDS8244.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.292782	0.40594	.	.	ENSG00000158636	ENST00000524490;ENST00000334736;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.5	3.6	0.41247	.	0.000000	0.64402	D	0.000001	T	0.52597	0.1744	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D	0.69078	0.993;0.993;0.993;0.997;0.993;0.997	D;D;D;D;D;D	0.72625	0.967;0.967;0.967;0.978;0.967;0.978	T	0.46275	-0.9203	9	0.30854	T	0.27	-5.5853	9.3908	0.38372	0.0:0.7677:0.0:0.2323	.	1037;1129;1143;1129;1030;1128	B7ZKT8;B7ZKU2;B7ZKU0;Q17RM7;E9PMC9;Q7Z589	.;.;.;.;.;EMSY_HUMAN	V	1030;1128;810;1143;1037;1129;1129;1128	.	ENSP00000334130:L1128V	L	+	1	2	C11orf30	75934597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.147000	0.42226	0.834000	0.34852	0.650000	0.86243	CTG		0.448	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383288.2		NM_020193	
C6orf57	135154	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	71289120	71289120	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr6:71289120C>T	ENST00000370474.3	+	2	92	c.68C>T	c.(67-69)tCa>tTa	p.S23L		NM_145267.2	NP_660310.2	Q5VUM1	SDHF4_HUMAN	chromosome 6 open reading frame 57	23					innate immune response (GO:0045087)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)		p.S23L(1)		kidney(1)|lung(1)|skin(1)	3						CTTCTAGGATCACCCCTTCTG	0.338																																																	1	Substitution - Missense(1)	kidney(1)											83.0	84.0	84.0					6																	71289120		2203	4300	6503	SO:0001583	missense	135154			BC018085	CCDS4972.1	6q12	2011-12-13			ENSG00000154079	ENSG00000154079			20957	protein-coding gene	gene with protein product							Standard	NM_145267		Approved		uc003pfq.1	Q5VUM1	OTTHUMG00000014992	ENST00000370474.3:c.68C>T	6.37:g.71289120C>T	ENSP00000359505:p.Ser23Leu	Somatic		WXS	Illumina HiSeq	Phase_I	E1P532	Missense_Mutation	SNP	ENST00000370474.3	37	CCDS4972.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.951491	0.34471	.	.	ENSG00000154079	ENST00000370474	T	0.35421	1.31	5.36	2.52	0.30459	.	0.682593	0.14540	N	0.313349	T	0.10121	0.0248	L	0.27053	0.805	0.22330	N	0.9992	B	0.06786	0.001	B	0.08055	0.003	T	0.28170	-1.0052	10	0.39692	T	0.17	-6.2852	9.3817	0.38318	0.0:0.7498:0.0:0.2502	.	23	Q5VUM1	CF057_HUMAN	L	23	ENSP00000359505:S23L	ENSP00000359505:S23L	S	+	2	0	C6orf57	71345841	0.527000	0.26306	0.779000	0.31741	0.414000	0.31173	0.941000	0.29005	0.717000	0.32145	0.453000	0.30009	TCA		0.338	C6orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041140.1		NM_145267	
CARD6	84674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	40852478	40852478	+	Silent	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr5:40852478G>A	ENST00000254691.5	+	3	1243	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	348					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)			p.K348K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCAGTCACAAGGTTCTGGATG	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											62.0	60.0	60.0					5																	40852478		2203	4300	6503	SO:0001819	synonymous_variant	84674			AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1044G>A	5.37:g.40852478G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q52LR2	Silent	SNP	ENST00000254691.5	37	CCDS3935.1																																																																																				0.473	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			
CGNL1	84952	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	57816796	57816796	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr15:57816796G>T	ENST00000281282.5	+	12	2964	c.2886G>T	c.(2884-2886)gaG>gaT	p.E962D	CTD-2515H24.4_ENST00000566990.1_lincRNA	NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	962						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)	p.E962D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		ACATTGTTGAGGCCTCCCGTA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											117.0	119.0	118.0					15																	57816796		2192	4292	6484	SO:0001583	missense	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.2886G>T	15.37:g.57816796G>T	ENSP00000281282:p.Glu962Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.448362	0.26074	.	.	ENSG00000128849	ENST00000281282	T	0.77877	-1.13	5.48	1.31	0.21738	.	0.140379	0.33217	N	0.005142	T	0.69433	0.3110	L	0.53249	1.67	0.36111	D	0.844799	B	0.27765	0.188	B	0.26310	0.068	T	0.67457	-0.5666	10	0.44086	T	0.13	-33.5125	9.7281	0.40344	0.2933:0.0:0.7067:0.0	.	962	Q0VF96	CGNL1_HUMAN	D	962	ENSP00000281282:E962D	ENSP00000281282:E962D	E	+	3	2	CGNL1	55604088	0.998000	0.40836	0.776000	0.31678	0.338000	0.28826	0.414000	0.21164	0.247000	0.21414	-0.345000	0.07892	GAG		0.537	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2		NM_032866	
CCNB2	9133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59409521	59409521	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr15:59409521C>T	ENST00000288207.2	+	7	1120	c.929C>T	c.(928-930)gCa>gTa	p.A310V	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	310					G2/M transition of mitotic cell cycle (GO:0000086)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)		p.A310V(1)		kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						AAGGTAGCAGCAGCTGCTTCC	0.408																																																	1	Substitution - Missense(1)	kidney(1)											114.0	104.0	107.0					15																	59409521		2191	4291	6482	SO:0001583	missense	9133			AF002822	CCDS10170.1	15q21.3	2004-01-19			ENSG00000157456	ENSG00000157456			1580	protein-coding gene	gene with protein product		602755					Standard	NM_004701		Approved	HsT17299	uc002afz.3	O95067	OTTHUMG00000132715	ENST00000288207.2:c.929C>T	15.37:g.59409521C>T	ENSP00000288207:p.Ala310Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KM93|Q6FI99	Missense_Mutation	SNP	ENST00000288207.2	37	CCDS10170.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.833754	0.91036	.	.	ENSG00000157456	ENST00000288207	T	0.35048	1.33	5.45	5.45	0.79879	Cyclin, C-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.73001	0.3531	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.82546	-0.0403	10	0.87932	D	0	.	18.2661	0.90052	0.0:1.0:0.0:0.0	.	310	O95067	CCNB2_HUMAN	V	310	ENSP00000288207:A310V	ENSP00000288207:A310V	A	+	2	0	CCNB2	57196813	1.000000	0.71417	0.604000	0.28916	0.994000	0.84299	6.040000	0.70980	2.553000	0.86117	0.655000	0.94253	GCA		0.408	CCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256016.1		NM_004701	
CIAPIN1	57019	hgsc.bcm.edu	37	16	57468040	57468041	+	Frame_Shift_Ins	INS	-	-	TACA			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr16:57468040_57468041insTACA	ENST00000569979.1	-	4	517_518	c.471_472insTGTA	c.(469-474)gttcagfs	p.Q158fs	CIAPIN1_ENST00000394391.4_Frame_Shift_Ins_p.Q158fs|CIAPIN1_ENST00000565961.1_Frame_Shift_Ins_p.Q131fs|CIAPIN1_ENST00000567518.1_Frame_Shift_Ins_p.Q145fs|CIAPIN1_ENST00000569246.1_5'UTR|CIAPIN1_ENST00000568940.1_Frame_Shift_Ins_p.Q158fs|CIAPIN1_ENST00000569370.1_Frame_Shift_Ins_p.Q158fs					cytokine induced apoptosis inhibitor 1											cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CCTGTGATCTGAACAAACAGCA	0.48																																																	0																																										SO:0001589	frameshift_variant	57019			AF248964	CCDS10781.2	16q21	2012-09-20			ENSG00000005194	ENSG00000005194			28050	protein-coding gene	gene with protein product		608943				10493829, 11230166	Standard	XM_005256061		Approved	Anamorsin	uc002ell.1	Q6FI81	OTTHUMG00000133457	ENST00000569979.1:c.471_472insTGTA	16.37:g.57468040_57468041insTACA	ENSP00000458000:p.Gln158fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000569979.1	37																																																																																					0.480	CIAPIN1-010	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000432580.1		NM_020313	
CSGALNACT1	55790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	19297429	19297429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr8:19297429C>A	ENST00000454498.2	-	6	1878	c.865G>T	c.(865-867)Gag>Tag	p.E289*	CSGALNACT1_ENST00000544602.1_Nonsense_Mutation_p.E289*|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000332246.6_Nonsense_Mutation_p.E289*|CSGALNACT1_ENST00000522854.1_Nonsense_Mutation_p.E289*|CSGALNACT1_ENST00000311540.4_Nonsense_Mutation_p.E289*	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	289					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)	p.E289*(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCATCCTGCTCAATGCACATC	0.398																																																	1	Substitution - Nonsense(1)	kidney(1)											129.0	107.0	114.0					8																	19297429		2203	4300	6503	SO:0001587	stop_gained	55790			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.865G>T	8.37:g.19297429C>A	ENSP00000411816:p.Glu289*	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Nonsense_Mutation	SNP	ENST00000454498.2	37	CCDS6010.1	.	.	.	.	.	.	.	.	.	.	C	41	9.070661	0.99055	.	.	ENSG00000147408	ENST00000454498;ENST00000332246;ENST00000311540;ENST00000522854;ENST00000544602	.	.	.	5.71	4.83	0.62350	.	0.353016	0.33591	N	0.004744	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	-20.8854	14.3447	0.66651	0.0:0.1565:0.8435:0.0	.	.	.	.	X	289	.	ENSP00000310891:E289X	E	-	1	0	CSGALNACT1	19341709	1.000000	0.71417	0.995000	0.50966	0.941000	0.58515	3.554000	0.53720	1.415000	0.47037	-0.165000	0.13383	GAG		0.398	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1		NM_018371	
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113358405	113358405	+	Silent	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr8:113358405C>A	ENST00000297405.5	-	41	6607	c.6363G>T	c.(6361-6363)gtG>gtT	p.V2121V	CSMD3_ENST00000455883.2_Silent_p.V2017V|CSMD3_ENST00000343508.3_Silent_p.V2081V|CSMD3_ENST00000352409.3_Silent_p.V2051V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2121	CUB 12. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V2121V(1)|p.V2081V(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GACTGAGGATCACACCACTGA	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - coding silent(2)	kidney(2)											110.0	110.0	110.0					8																	113358405		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.6363G>T	8.37:g.113358405C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q96PZ3	Silent	SNP	ENST00000297405.5	37	CCDS6315.1																																																																																				0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900	
CUBN	8029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	16911671	16911671	+	Missense_Mutation	SNP	C	C	G	rs148491916	byFrequency	TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr10:16911671C>G	ENST00000377833.4	-	59	9483	c.9418G>C	c.(9418-9420)Gca>Cca	p.A3140P		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3140	CUB 23. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.A3140P(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGCCTTTTGCTGTCTGAAAT	0.423																																																	1	Substitution - Missense(1)	kidney(1)											157.0	170.0	166.0					10																	16911671		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.9418G>C	10.37:g.16911671C>G	ENSP00000367064:p.Ala3140Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105359	0.37145	.	.	ENSG00000107611	ENST00000377833	T	0.19105	2.17	5.69	5.69	0.88448	CUB (5);	0.000000	0.44902	D	0.000403	T	0.44685	0.1305	M	0.89840	3.065	0.80722	D	1	P	0.47910	0.902	P	0.52710	0.707	T	0.44620	-0.9316	10	0.33940	T	0.23	.	13.5352	0.61643	0.156:0.8439:0.0:0.0	.	3140	O60494	CUBN_HUMAN	P	3140	ENSP00000367064:A3140P	ENSP00000367064:A3140P	A	-	1	0	CUBN	16951677	0.994000	0.37717	0.953000	0.39169	0.125000	0.20455	3.808000	0.55598	2.688000	0.91661	0.650000	0.86243	GCA		0.423	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1		NM_001081	
DACT1	51339	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	59112841	59112841	+	Silent	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr14:59112841C>T	ENST00000335867.4	+	4	1524	c.1500C>T	c.(1498-1500)aaC>aaT	p.N500N	DACT1_ENST00000556859.1_Silent_p.N219N|DACT1_ENST00000395153.3_Silent_p.N463N|DACT1_ENST00000541264.2_Silent_p.N219N			Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	500					dendrite morphogenesis (GO:0048813)|embryonic hindgut morphogenesis (GO:0048619)|gastrulation with mouth forming second (GO:0001702)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of catenin import into nucleus (GO:0035412)|regulation of protein stability (GO:0031647)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|synapse organization (GO:0050808)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)	p.N500N(1)		endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CGCAGGAGAACAAAGTTGTAC	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											63.0	79.0	74.0					14																	59112841		2202	4300	6502	SO:0001819	synonymous_variant	51339			AF251079	CCDS9736.1, CCDS41961.1	14q22.3	2013-05-15	2013-05-15		ENSG00000165617	ENSG00000165617			17748	protein-coding gene	gene with protein product		607861	"""dapper homolog 1, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis)"""			11970895	Standard	NM_001079520		Approved	DAPPER1, THYEX3, HDPR1, DAPPER, FRODO	uc001xdw.3	Q9NYF0	OTTHUMG00000140324	ENST00000335867.4:c.1500C>T	14.37:g.59112841C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MYJ2|Q86TY0	Silent	SNP	ENST00000335867.4	37	CCDS9736.1																																																																																				0.607	DACT1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325515.1		NM_016651	
DARS	1615	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	136678172	136678172	+	Splice_Site	SNP	T	T	C			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:136678172T>C	ENST00000264161.4	-	10	1027		c.e10-2		DARS_ENST00000537273.1_Splice_Site	NM_001349.2	NP_001340.2	P14868	SYDC_HUMAN	aspartyl-tRNA synthetase						aspartyl-tRNA aminoacylation (GO:0006422)|gene expression (GO:0010467)|protein complex assembly (GO:0006461)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacylase activity (GO:0004046)|aspartate-tRNA ligase activity (GO:0004815)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)	p.?(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CTCTGAATACTGTGAAGTTAA	0.323																																																	1	Unknown(1)	kidney(1)											74.0	75.0	75.0					2																	136678172		2203	4300	6503	SO:0001630	splice_region_variant	1615			J05032	CCDS2180.1	2q21.3	2011-07-01			ENSG00000115866	ENSG00000115866	6.1.1.12	"""Aminoacyl tRNA synthetases / Class II"""	2678	protein-coding gene	gene with protein product	"""aspartate tRNA ligase 1, cytoplasmic"""	603084				2674137	Standard	NM_001349		Approved		uc002tux.1	P14868	OTTHUMG00000131741	ENST00000264161.4:c.812-2A>G	2.37:g.136678172T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K3J2|D3DP77|Q2TNI3|Q32Q69|Q53HV4|Q53YC5|Q68CR9|Q9BW52	Splice_Site	SNP	ENST00000264161.4	37	CCDS2180.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.436673	0.62955	.	.	ENSG00000115866	ENST00000264161;ENST00000537273	.	.	.	5.47	5.47	0.80525	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8483	0.78907	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	DARS	136394642	1.000000	0.71417	0.993000	0.49108	0.792000	0.44763	7.993000	0.88291	2.203000	0.70933	0.477000	0.44152	.		0.323	DARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254660.5		NM_001349	Intron
DHRS4	10901	broad.mit.edu;hgsc.bcm.edu	37	14	24424292	24424292	+	Silent	SNP	G	G	T	rs533460137		TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr14:24424292G>T	ENST00000313250.5	+	2	380	c.177G>T	c.(175-177)gtG>gtT	p.V59V	DHRS4_ENST00000421831.1_Silent_p.V41V|DHRS4_ENST00000382761.3_Silent_p.V41V|DHRS4_ENST00000397074.3_Silent_p.V59V|DHRS4_ENST00000559632.1_Silent_p.V59V|DHRS4_ENST00000543741.2_Silent_p.V59V|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000558263.1_Silent_p.V59V|DHRS4_ENST00000397075.3_Silent_p.V59V|DHRS4_ENST00000397073.2_Silent_p.V41V|DHRS4_ENST00000558581.1_Silent_p.V59V|DHRS4_ENST00000308178.8_Silent_p.V41V	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	59					alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.V59V(1)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGGCCCATGTGGTCGTCAGCA	0.657																																																	1	Substitution - coding silent(1)	kidney(1)											54.0	61.0	59.0					14																	24424292		2203	4299	6502	SO:0001819	synonymous_variant	10901			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.177G>T	14.37:g.24424292G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Silent	SNP	ENST00000313250.5	37	CCDS9605.1																																																																																				0.657	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3			
DLAT	1737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111915861	111915861	+	Splice_Site	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr11:111915861G>A	ENST00000280346.6	+	9	1856		c.e9-1		DLAT_ENST00000393051.1_Splice_Site|DLAT_ENST00000537636.1_Splice_Site	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase						cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.?(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		TCCTCCCATAGGCTCCGGCAG	0.463																																																	1	Unknown(1)	kidney(1)											160.0	162.0	161.0					11																	111915861		2201	4297	6498	SO:0001630	splice_region_variant	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1198-1G>A	11.37:g.111915861G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q16783|Q53EP3	Splice_Site	SNP	ENST00000280346.6	37	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291203	0.40494	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	.	.	.	4.96	3.05	0.35203	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.7756	0.18277	0.1583:0.0:0.6844:0.1573	.	.	.	.	.	-1	.	.	.	+	.	.	DLAT	111421071	1.000000	0.71417	0.218000	0.23776	0.829000	0.46940	7.862000	0.87013	0.491000	0.27793	0.462000	0.41574	.		0.463	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1		NM_001931	Intron
DLAT	1737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	111915865	111915865	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr11:111915865C>G	ENST00000280346.6	+	9	1860	c.1201C>G	c.(1201-1203)Ccg>Gcg	p.P401A	DLAT_ENST00000393051.1_Missense_Mutation_p.P296A|DLAT_ENST00000537636.1_Missense_Mutation_p.P172A	NM_001931.4	NP_001922.2	P10515	ODP2_HUMAN	dihydrolipoamide S-acetyltransferase	401					cellular metabolic process (GO:0044237)|glucose metabolic process (GO:0006006)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial pyruvate dehydrogenase complex (GO:0005967)|mitochondrion (GO:0005739)	dihydrolipoyllysine-residue acetyltransferase activity (GO:0004742)	p.P401A(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)		CCCATAGGCTCCGGCAGCTGT	0.458																																																	1	Substitution - Missense(1)	kidney(1)											161.0	163.0	162.0					11																	111915865		2201	4297	6498	SO:0001583	missense	1737			Y00978	CCDS8354.1	11q23.1	2008-02-05	2008-02-04		ENSG00000150768	ENSG00000150768	2.3.1.12		2896	protein-coding gene	gene with protein product	"""E2 component of pyruvate dehydrogenase complex"""	608770		DLTA		8102256	Standard	NM_001931		Approved	PDC-E2	uc001pmo.3	P10515	OTTHUMG00000133751	ENST00000280346.6:c.1201C>G	11.37:g.111915865C>G	ENSP00000280346:p.Pro401Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q16783|Q53EP3	Missense_Mutation	SNP	ENST00000280346.6	37	CCDS8354.1	.	.	.	.	.	.	.	.	.	.	C	3.597	-0.082384	0.07141	.	.	ENSG00000150768	ENST00000280346;ENST00000393051;ENST00000531306;ENST00000537636	T;T;T;T	0.25749	2.14;2.28;2.19;1.78	5.72	3.76	0.43208	E3 binding (1);	0.393306	0.28130	N	0.016486	T	0.08714	0.0216	N	0.02379	-0.575	0.45594	D	0.998533	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.09377	0.001;0.004;0.001	T	0.20806	-1.0264	10	0.05436	T	0.98	-1.8545	10.9489	0.47317	0.0:0.6271:0.3045:0.0684	.	401;296;401	Q86YI5;E9PEJ4;P10515	.;.;ODP2_HUMAN	A	401;296;233;172	ENSP00000280346:P401A;ENSP00000376771:P296A;ENSP00000433432:P233A;ENSP00000442427:P172A	ENSP00000280346:P401A	P	+	1	0	DLAT	111421075	0.619000	0.27059	0.986000	0.45419	0.384000	0.30261	1.626000	0.37039	0.654000	0.30846	0.462000	0.41574	CCG		0.458	DLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258167.1		NM_001931	
DSG3	1830	broad.mit.edu;ucsc.edu	37	18	29046612	29046612	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr18:29046612G>T	ENST00000257189.4	+	11	1614	c.1531G>T	c.(1531-1533)Gtc>Ttc	p.V511F		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	511					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V511F(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCCGTGGTTGTCTCCGCTAG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											144.0	129.0	134.0					18																	29046612		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1531G>T	18.37:g.29046612G>T	ENSP00000257189:p.Val511Phe	Somatic		WXS	Illumina GAIIx	Phase_I	A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889881	0.72524	.	.	ENSG00000134757	ENST00000257189	T	0.62941	-0.01	5.73	4.85	0.62838	.	0.165433	0.27807	N	0.017776	T	0.72104	0.3419	M	0.68952	2.095	0.32081	N	0.5932	D	0.62365	0.991	P	0.59115	0.852	T	0.79147	-0.1923	10	0.87932	D	0	.	10.7674	0.46301	0.0733:0.1382:0.7885:0.0	.	511	P32926	DSG3_HUMAN	F	511	ENSP00000257189:V511F	ENSP00000257189:V511F	V	+	1	0	DSG3	27300610	0.952000	0.32445	0.409000	0.26459	0.018000	0.09664	1.437000	0.34991	1.395000	0.46643	0.585000	0.79938	GTC		0.448	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1		NM_001944	
EIF2AK1	27102	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6094303	6094303	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr7:6094303T>C	ENST00000199389.6	-	2	297	c.151A>G	c.(151-153)Aaa>Gaa	p.K51E	RNU6-218P_ENST00000517120.1_RNA|EIF2AK1_ENST00000536084.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	51					negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)	p.K51E(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AGGGGTTCTTTTAACACCTGG	0.388																																																	1	Substitution - Missense(1)	kidney(1)											104.0	102.0	103.0					7																	6094303		2203	4300	6503	SO:0001583	missense	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.151A>G	7.37:g.6094303T>C	ENSP00000199389:p.Lys51Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	14.37	2.515346	0.44763	.	.	ENSG00000086232	ENST00000199389;ENST00000446699	T;T	0.13901	2.55;2.55	5.42	2.98	0.34508	.	0.206489	0.50627	D	0.000111	T	0.10294	0.0252	L	0.40543	1.245	0.58432	D	0.999999	P;B	0.36465	0.554;0.418	B;B	0.33521	0.165;0.079	T	0.13442	-1.0509	10	0.12103	T	0.63	-20.5858	12.1152	0.53861	0.0:0.0:0.2713:0.7287	.	51;51	Q9BQI3-2;Q9BQI3	.;E2AK1_HUMAN	E	51	ENSP00000199389:K51E;ENSP00000397590:K51E	ENSP00000199389:K51E	K	-	1	0	EIF2AK1	6060829	0.994000	0.37717	0.214000	0.23707	0.993000	0.82548	2.663000	0.46774	0.332000	0.23536	0.459000	0.35465	AAA		0.388	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2		NM_014413	
PGBD3	267004	hgsc.bcm.edu;ucsc.edu	37	10	50732227	50732227	+	De_novo_Start_OutOfFrame	DEL	C	C	-			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr10:50732227delC	ENST00000374127.3	-	0	46				ERCC6_ENST00000355832.5_Frame_Shift_Del_p.V417fs|PGBD3_ENST00000603152.1_Frame_Shift_Del_p.V417fs|ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.V417fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.V417fs	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3											breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGCACTGGCACTTTCTTCTGC	0.557																																																	0													105.0	104.0	104.0					10																	50732227		2203	4300	6503			2074			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.-156G>-	10.37:g.50732227delC		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQC4|Q5W0M0|Q6PIH0	Frame_Shift_Del	DEL	ENST00000374127.3	37	CCDS7230.1																																																																																				0.557	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			
ERCC6	2074	hgsc.bcm.edu	37	10	50732231	50732231	+	Silent	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr10:50732231C>T	ENST00000355832.5	-	5	1323	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	PGBD3_ENST00000374127.3_5'UTR|PGBD3_ENST00000603152.1_Silent_p.K415K|ERCC6-PGBD3_ENST00000447839.2_Silent_p.K415K|ERCC6-PGBD3_ENST00000515869.1_Silent_p.K415K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	415					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGGCACTTTCTTCTGCCGTT	0.552								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													102.0	101.0	101.0					10																	50732231		2203	4300	6503	SO:0001819	synonymous_variant	2074			L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1245G>A	10.37:g.50732231C>T		Somatic		WXS	Illumina HiSeq	Phase_I	D3DX94|Q5W0L9	Silent	SNP	ENST00000355832.5	37	CCDS7229.1																																																																																				0.552	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1		NM_000124	
EXOSC9	5393	hgsc.bcm.edu;ucsc.edu	37	4	122731151	122731151	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr4:122731151delG	ENST00000243498.5	+	7	743	c.635delG	c.(634-636)cgafs	p.R212fs	EXOSC9_ENST00000509980.1_3'UTR|EXOSC9_ENST00000379663.3_Frame_Shift_Del_p.R212fs|EXOSC9_ENST00000512454.1_Frame_Shift_Del_p.R196fs	NM_005033.2	NP_005024.2	Q06265	EXOS9_HUMAN	exosome component 9	212	ARE binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|immune response (GO:0006955)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|intermediate filament cytoskeleton (GO:0045111)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						CCCAATGAACGAGAAGAACGT	0.393																																																	0													184.0	169.0	174.0					4																	122731151		2203	4300	6503	SO:0001589	frameshift_variant	5393			M58460	CCDS3722.2, CCDS34057.1	4q27	2010-05-07	2004-06-16	2004-06-18	ENSG00000123737	ENSG00000123737	3.1.13.-		9137	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 1 (75kD)"""	606180	"""polymyositis/scleroderma autoantigen 1, 75kDa"""	PMSCL1			Standard	XR_427545		Approved	PM/Scl-75, Rrp45p, RRP45, p5, p6	uc003idz.3	Q06265	OTTHUMG00000128783	ENST00000243498.5:c.635delG	4.37:g.122731151delG	ENSP00000243498:p.Arg212fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q12883|Q4W5P5|Q86Y41|Q86Y48	Frame_Shift_Del	DEL	ENST00000243498.5	37	CCDS3722.2																																																																																				0.393	EXOSC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250708.2		NM_005033	
FSIP2	401024	broad.mit.edu;hgsc.bcm.edu	37	2	186669998	186669998	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:186669998A>T	ENST00000424728.1	+	17	15965	c.15965A>T	c.(15964-15966)gAa>gTa	p.E5322V	FSIP2_ENST00000343098.5_Missense_Mutation_p.E5411V			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5322								p.E20V(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTGATAAGGGAATTTAAGAAA	0.299																																																	2	Substitution - Missense(2)	kidney(2)											70.0	71.0	71.0					2																	186669998		1793	4053	5846	SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.15965A>T	2.37:g.186669998A>T	ENSP00000401306:p.Glu5322Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37		.	.	.	.	.	.	.	.	.	.	A	13.32	2.201486	0.38905	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.58060	0.36;0.36	5.45	5.45	0.79879	.	.	.	.	.	T	0.46889	0.1416	N	0.24115	0.695	0.27227	N	0.959511	.	.	.	.	.	.	T	0.49011	-0.8983	7	0.72032	D	0.01	.	11.8204	0.52235	1.0:0.0:0.0:0.0	.	.	.	.	V	5411;5322	ENSP00000344403:E5411V;ENSP00000401306:E5322V	ENSP00000344403:E5411V	E	+	2	0	FSIP2	186378243	1.000000	0.71417	0.994000	0.49952	0.082000	0.17680	4.343000	0.59348	2.285000	0.76669	0.477000	0.44152	GAA		0.299	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3		NM_173651	
G6PC	2538	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	41052960	41052960	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:41052960T>A	ENST00000253801.2	+	1	146	c.67T>A	c.(67-69)Tac>Aac	p.Y23N	G6PC_ENST00000585489.1_Missense_Mutation_p.Y23N|LINC00671_ENST00000301683.3_lincRNA|G6PC_ENST00000592383.1_Missense_Mutation_p.Y23N	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	23					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.Y23N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCAGGTGAATTACCAAGACTC	0.502																																																	1	Substitution - Missense(1)	kidney(1)											129.0	102.0	111.0					17																	41052960		2203	4300	6503	SO:0001583	missense	2538			U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.67T>A	17.37:g.41052960T>A	ENSP00000253801:p.Tyr23Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.653302	0.88056	.	.	ENSG00000131482	ENST00000253801	T	0.76839	-1.05	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.86648	0.5983	M	0.72118	2.19	0.58432	D	0.999999	D;D	0.76494	0.999;0.994	D;P	0.69824	0.966;0.832	D	0.87748	0.2590	10	0.59425	D	0.04	.	15.3534	0.74409	0.0:0.0:0.0:1.0	.	25;23	E7ENG5;P35575	.;G6PC_HUMAN	N	23	ENSP00000253801:Y23N	ENSP00000253801:Y23N	Y	+	1	0	G6PC	38306486	1.000000	0.71417	0.992000	0.48379	0.970000	0.65996	7.450000	0.80656	2.212000	0.71576	0.528000	0.53228	TAC		0.502	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1		NM_000151	
GIPC3	126326	broad.mit.edu;hgsc.bcm.edu	37	19	3586520	3586520	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr19:3586520A>T	ENST00000322315.5	+	2	298	c.253A>T	c.(253-255)Aaa>Taa	p.K85*		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	85								p.K85*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACAGCCACAAAGTGGACAT	0.592											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Nonsense(1)	kidney(1)											55.0	58.0	57.0					19																	3586520		2203	4300	6503	SO:0001587	stop_gained	126326			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.253A>T	19.37:g.3586520A>T	ENSP00000319254:p.Lys85*	Somatic	612	WXS	Illumina HiSeq	Phase_I	O75227	Nonsense_Mutation	SNP	ENST00000322315.5	37	CCDS32871.1	.	.	.	.	.	.	.	.	.	.	A	37	6.152751	0.97329	.	.	ENSG00000179855	ENST00000322315	.	.	.	3.49	3.49	0.39957	.	0.050891	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.9751	11.0049	0.47629	1.0:0.0:0.0:0.0	.	.	.	.	X	85	.	ENSP00000319254:K85X	K	+	1	0	GIPC3	3537520	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	8.438000	0.90305	1.463000	0.47967	0.459000	0.35465	AAA		0.592	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1		NM_133261	
GRIA1	2890	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	153077687	153077687	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr5:153077687C>A	ENST00000285900.5	+	9	1561	c.1218C>A	c.(1216-1218)aaC>aaA	p.N406K	GRIA1_ENST00000521843.2_Missense_Mutation_p.N337K|GRIA1_ENST00000340592.5_Missense_Mutation_p.N406K|GRIA1_ENST00000448073.4_Missense_Mutation_p.N416K|GRIA1_ENST00000518783.1_Missense_Mutation_p.N416K|GRIA1_ENST00000518142.1_Missense_Mutation_p.N326K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	406					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.N406K(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GTGTTCAGAACAGAACATACA	0.458																																																	2	Substitution - Missense(2)	kidney(2)											100.0	91.0	94.0					5																	153077687		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1218C>A	5.37:g.153077687C>A	ENSP00000285900:p.Asn406Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.184428	0.78677	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000537037;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.15139	2.48;2.45;2.48;2.46;2.46;2.46;2.47	5.56	-5.87	0.02297	.	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	M	0.91459	3.21	0.80722	D	1	D;D;P;D;D;D	0.61697	0.963;0.963;0.866;0.963;0.978;0.99	P;P;P;P;P;P	0.56751	0.643;0.643;0.566;0.643;0.805;0.677	T	0.63024	-0.6729	10	0.87932	D	0	.	16.4078	0.83697	0.0:0.7001:0.0:0.2999	.	416;416;326;416;406;406	E7ESV8;B7Z9G9;B7Z3F6;B7Z2W8;P42261-2;P42261	.;.;.;.;.;GRIA1_HUMAN	K	406;406;326;360;406;337;337;416;416	ENSP00000285900:N406K;ENSP00000427920:N326K;ENSP00000339343:N406K;ENSP00000427864:N337K;ENSP00000442108:N337K;ENSP00000428994:N416K;ENSP00000415569:N416K	ENSP00000285900:N406K	N	+	3	2	GRIA1	153057880	0.485000	0.25972	0.884000	0.34674	0.989000	0.77384	-0.216000	0.09266	-0.862000	0.04089	-0.290000	0.09829	AAC		0.458	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			
HDAC9	9734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	18688092	18688092	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr7:18688092G>T	ENST00000432645.2	+	10	1244	c.1244G>T	c.(1243-1245)gGa>gTa	p.G415V	HDAC9_ENST00000417496.2_Missense_Mutation_p.G413V|HDAC9_ENST00000406072.1_Missense_Mutation_p.G402V|HDAC9_ENST00000441542.2_Missense_Mutation_p.G418V|HDAC9_ENST00000428307.2_Missense_Mutation_p.G371V|HDAC9_ENST00000405010.3_Missense_Mutation_p.G415V|HDAC9_ENST00000524023.1_Missense_Mutation_p.G338V|HDAC9_ENST00000401921.1_Missense_Mutation_p.G374V|HDAC9_ENST00000456174.2_Missense_Mutation_p.G387V|HDAC9_ENST00000406451.4_Missense_Mutation_p.G415V	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	415					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.G418V(2)|p.G413V(1)|p.G415V(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TTTTCAGGTGGAGTTCCCTTA	0.418																																																	4	Substitution - Missense(4)	kidney(4)											56.0	56.0	56.0					7																	18688092		1882	4115	5997	SO:0001583	missense	9734			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.1244G>T	7.37:g.18688092G>T	ENSP00000410337:p.Gly415Val	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	15.09	2.730282	0.48939	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T	0.59364	0.88;0.83;0.28;0.89;0.88;0.35;0.28;0.27;0.83;0.88	5.7	5.7	0.88788	.	0.108412	0.41396	D	0.000894	T	0.59985	0.2234	L	0.53249	1.67	0.58432	D	0.999996	B;B;B;P;B;P;B;P;P;B;B;P;B;D	0.53151	0.099;0.049;0.288;0.919;0.099;0.573;0.376;0.952;0.51;0.049;0.376;0.51;0.178;0.958	B;B;B;P;B;B;B;P;B;B;B;B;B;P	0.47015	0.025;0.024;0.22;0.534;0.04;0.294;0.09;0.492;0.273;0.026;0.09;0.273;0.053;0.528	T	0.62849	-0.6767	10	0.54805	T	0.06	-20.3872	15.6369	0.76961	0.0:0.1756:0.8244:0.0	.	338;387;415;402;413;415;418;374;418;415;387;415;415;393	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q9UKV0-2;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	V	413;416;415;415;371;402;374;415;418;387;338;415	ENSP00000401669:G413V;ENSP00000384382:G415V;ENSP00000384657:G415V;ENSP00000395655:G371V;ENSP00000384017:G402V;ENSP00000383912:G374V;ENSP00000410337:G415V;ENSP00000408617:G418V;ENSP00000388568:G387V;ENSP00000430036:G338V	ENSP00000262069:G416V	G	+	2	0	HDAC9	18654617	0.997000	0.39634	0.999000	0.59377	0.721000	0.41392	2.703000	0.47110	2.702000	0.92279	0.557000	0.71058	GGA		0.418	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1			
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186056587	186056587	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr1:186056587T>G	ENST00000271588.4	+	60	9402	c.9173T>G	c.(9172-9174)aTt>aGt	p.I3058S	HMCN1_ENST00000367492.2_Missense_Mutation_p.I3058S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3058	Ig-like C2-type 29.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.I3058S(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCCCAAGCATTAAAGACCAT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											77.0	76.0	77.0					1																	186056587		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9173T>G	1.37:g.186056587T>G	ENSP00000271588:p.Ile3058Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.139160	0.77775	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.75260	-0.92;-0.92	5.5	5.5	0.81552	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88347	0.6412	M	0.91663	3.23	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	D	0.89877	0.4027	10	0.46703	T	0.11	.	15.5957	0.76578	0.0:0.0:0.0:1.0	.	3058	Q96RW7	HMCN1_HUMAN	S	3058	ENSP00000271588:I3058S;ENSP00000356462:I3058S	ENSP00000271588:I3058S	I	+	2	0	HMCN1	184323210	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.728000	0.84847	2.074000	0.62210	0.533000	0.62120	ATT		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935	
HSD17B11	51170	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	88303419	88303419	+	Silent	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr4:88303419G>A	ENST00000358290.4	-	2	621	c.306C>T	c.(304-306)agC>agT	p.S102S	HSD17B11_ENST00000507286.1_Silent_p.S102S	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	102					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)	p.S102S(1)		cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TCTTTGCAGAGCTGTAAATAT	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											204.0	207.0	206.0					4																	88303419		2203	4300	6503	SO:0001819	synonymous_variant	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.306C>T	4.37:g.88303419G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q96HF6|Q9UKU4	Silent	SNP	ENST00000358290.4	37	CCDS3619.1																																																																																				0.433	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1		NM_016245	
IRS1	3667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	227660084	227660084	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:227660084G>A	ENST00000305123.5	-	1	4391	c.3371C>T	c.(3370-3372)gCa>gTa	p.A1124V	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1124					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.A1124V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCCCCTACTGCTGCCCCCGC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											35.0	35.0	35.0					2																	227660084		2203	4300	6503	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3371C>T	2.37:g.227660084G>A	ENSP00000304895:p.Ala1124Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	5.368	0.253223	0.10185	.	.	ENSG00000169047	ENST00000305123	T	0.58358	0.34	5.28	-1.22	0.09494	.	0.945681	0.08703	N	0.906108	T	0.34048	0.0884	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.21861	-1.0233	10	0.35671	T	0.21	0.0642	6.7306	0.23381	0.2622:0.3363:0.4014:0.0	.	1124	P35568	IRS1_HUMAN	V	1124	ENSP00000304895:A1124V	ENSP00000304895:A1124V	A	-	2	0	IRS1	227368328	0.603000	0.26924	0.000000	0.03702	0.002000	0.02628	1.515000	0.35845	-0.120000	0.11809	-0.140000	0.14226	GCA		0.642	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3		NM_005544	
KCNJ15	3772	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	39671523	39671523	+	Missense_Mutation	SNP	C	C	G	rs372007819		TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr21:39671523C>G	ENST00000328656.4	+	4	643	c.340C>G	c.(340-342)Ctc>Gtc	p.L114V	KCNJ15_ENST00000398932.1_Missense_Mutation_p.L114V|KCNJ15_ENST00000398930.1_Missense_Mutation_p.L114V|KCNJ15_ENST00000398934.1_Missense_Mutation_p.L114V|KCNJ15_ENST00000398938.2_Missense_Mutation_p.L114V	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	KCJ15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	114					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)	p.L114V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24					Yohimbine(DB01392)	AGTGGACTCTCTCACTGGGGC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											98.0	101.0	100.0					21																	39671523		2203	4300	6503	SO:0001583	missense	3772			Y10745	CCDS13656.1	21q22.2	2011-07-05			ENSG00000157551	ENSG00000157551		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6261	protein-coding gene	gene with protein product		602106				9299242, 8995301, 16382105	Standard	NM_170736		Approved	Kir4.2, Kir1.3, IRKK	uc002ywx.4	Q99712	OTTHUMG00000090609	ENST00000328656.4:c.340C>G	21.37:g.39671523C>G	ENSP00000331698:p.Leu114Val	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSH5|O00564|Q96L28|Q99446	Missense_Mutation	SNP	ENST00000328656.4	37	CCDS13656.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466395	0.63625	.	.	ENSG00000157551	ENST00000328656;ENST00000398928;ENST00000398938;ENST00000398932;ENST00000438657;ENST00000398930;ENST00000398934;ENST00000398927;ENST00000419868	D;D;D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.34	3.43	0.39272	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.070864	0.52532	D	0.000067	D	0.95658	0.8588	M	0.76002	2.32	0.50313	D	0.999866	D	0.59357	0.985	P	0.60286	0.872	D	0.94713	0.7894	9	.	.	.	.	9.5328	0.39205	0.0:0.7674:0.0:0.2326	.	114	Q99712	IRK15_HUMAN	V	114	ENSP00000331698:L114V;ENSP00000381902:L114V;ENSP00000381911:L114V;ENSP00000381905:L114V;ENSP00000414487:L114V;ENSP00000381904:L114V;ENSP00000381907:L114V;ENSP00000381901:L114V;ENSP00000400849:L114V	.	L	+	1	0	KCNJ15	38593393	0.988000	0.35896	0.970000	0.41538	0.924000	0.55760	2.733000	0.47360	1.335000	0.45486	0.655000	0.94253	CTC		0.488	KCNJ15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207181.2		NM_002243	
LCLAT1	253558	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	30785088	30785088	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:30785088G>A	ENST00000309052.4	+	5	764	c.555G>A	c.(553-555)atG>atA	p.M185I	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000359433.1_Missense_Mutation_p.M185I|LCLAT1_ENST00000379509.3_Missense_Mutation_p.M147I|LCLAT1_ENST00000540623.1_Missense_Mutation_p.M147I|LCLAT1_ENST00000319406.4_Missense_Mutation_p.M185I	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	185					cardiolipin acyl-chain remodeling (GO:0035965)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|multicellular organismal development (GO:0007275)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.M185I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TCGAAGACATGATTGATTACT	0.403																																																	1	Substitution - Missense(1)	kidney(1)											113.0	104.0	107.0					2																	30785088		2203	4300	6503	SO:0001583	missense	253558			AK095284	CCDS1772.1, CCDS42670.1	2p23.1	2008-12-15	2008-12-15	2008-12-15	ENSG00000172954	ENSG00000172954			26756	protein-coding gene	gene with protein product		614241	"""lysocardiolipin acyltransferase"""	LYCAT		18931347, 15152008, 16620771, 17675553	Standard	NM_001002257		Approved	FLJ37965, ALCAT1, AGPAT8	uc002rnl.3	Q6UWP7	OTTHUMG00000099349	ENST00000309052.4:c.555G>A	2.37:g.30785088G>A	ENSP00000310551:p.Met185Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8Z7|Q8N1Q7	Missense_Mutation	SNP	ENST00000309052.4	37	CCDS1772.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859766	0.51376	.	.	ENSG00000172954	ENST00000379509;ENST00000444270;ENST00000319406;ENST00000309052;ENST00000359433;ENST00000540623	D;D;D;D;D	0.92911	-3.13;-3.13;-3.13;-3.13;-3.13	5.48	5.48	0.80851	Phospholipid/glycerol acyltransferase (2);	0.034902	0.85682	D	0.000000	D	0.86896	0.6043	N	0.21097	0.63	0.58432	D	0.999999	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.003	T	0.81446	-0.0929	9	.	.	.	-23.92	19.3613	0.94440	0.0:0.0:1.0:0.0	.	185;185	Q6UWP7-2;Q6UWP7	.;LCLT1_HUMAN	I	147;147;185;185;185;147	ENSP00000368823:M147I;ENSP00000368826:M185I;ENSP00000310551:M185I;ENSP00000352406:M185I;ENSP00000442857:M147I	.	M	+	3	0	LCLAT1	30638592	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.512000	0.67030	2.573000	0.86826	0.650000	0.86243	ATG		0.403	LCLAT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000216780.1		NM_182551	
LBX2	85474	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	74725150	74725150	+	Silent	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:74725150C>T	ENST00000377566.4	-	2	679	c.501G>A	c.(499-501)ctG>ctA	p.L167L	LBX2_ENST00000460508.3_Silent_p.L163L|LBX2_ENST00000550249.1_5'UTR|AC005041.17_ENST00000479098.1_RNA|LBX2_ENST00000341396.2_3'UTR	NM_001282430.1	NP_001269359.1	Q6XYB7	LBX2_HUMAN	ladybird homeobox 2	167					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L163L(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						CGCCTTCGGGCAGTGCTAAGC	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											39.0	40.0	40.0					2																	74725150		2203	4299	6502	SO:0001819	synonymous_variant	85474			AC005041	CCDS33228.1, CCDS62938.1	2p13.1	2014-05-06	2007-02-15		ENSG00000179528	ENSG00000179528		"""Homeoboxes / ANTP class : NKL subclass"""	15525	protein-coding gene	gene with protein product		607164	"""ladybird homeobox homolog 2 (Drosophila)"""			11386758	Standard	NM_001282430		Approved		uc002slw.3	Q6XYB7	OTTHUMG00000170595	ENST00000377566.4:c.501G>A	2.37:g.74725150C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z5Y8	Silent	SNP	ENST00000377566.4	37																																																																																					0.667	LBX2-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000328490.1		NM_001009812	
MYH13	8735	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10225010	10225010	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:10225010C>A	ENST00000418404.3	-	23	3113	c.2950G>T	c.(2950-2952)Gaa>Taa	p.E984*	RP11-401O9.3_ENST00000577743.1_RNA|MYH13_ENST00000252172.4_Nonsense_Mutation_p.E984*			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	984					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.E984*(2)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GTCATTTCTTCGGAAAGATTC	0.383																																																	2	Substitution - Nonsense(2)	kidney(2)											124.0	107.0	112.0					17																	10225010		1825	4085	5910	SO:0001587	stop_gained	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2950G>T	17.37:g.10225010C>A	ENSP00000404570:p.Glu984*	Somatic		WXS	Illumina HiSeq	Phase_I	O95252|Q9P0U8	Nonsense_Mutation	SNP	ENST00000418404.3	37	CCDS45613.1	.	.	.	.	.	.	.	.	.	.	C	44	10.619036	0.99438	.	.	ENSG00000006788	ENST00000252172;ENST00000418404	.	.	.	4.16	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.0067	0.86395	0.0:1.0:0.0:0.0	.	.	.	.	X	984;610	.	ENSP00000252172:E984X	E	-	1	0	MYH13	10165735	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	7.480000	0.81109	2.309000	0.77851	0.561000	0.74099	GAA		0.383	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1		NM_003802	
NAV1	89796	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201779747	201779747	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr1:201779747G>A	ENST00000367296.4	+	24	5078	c.4658G>A	c.(4657-4659)cGc>cAc	p.R1553H	MIR1231_ENST00000408101.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.R1550H|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.R1159H|NAV1_ENST00000367302.1_Missense_Mutation_p.R1506H|NAV1_ENST00000367297.4_Missense_Mutation_p.R1545H|NAV1_ENST00000367300.3_Missense_Mutation_p.R1493H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1553					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.R1550H(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AAGCACCGGCGCCTCGTCCTC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											54.0	47.0	49.0					1																	201779747		2203	4300	6503	SO:0001583	missense	89796			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.4658G>A	1.37:g.201779747G>A	ENSP00000356265:p.Arg1553His	Somatic		WXS	Illumina HiSeq	Phase_I	A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	ENST00000367296.4	37	CCDS1414.2	.	.	.	.	.	.	.	.	.	.	G	35	5.502800	0.96371	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000367295	D;D;D;D;D;D	0.88046	-2.33;-2.33;-2.33;-2.33;-2.33;-2.33	4.85	4.85	0.62838	.	0.127561	0.53938	D	0.000046	D	0.92974	0.7764	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.987;0.998	D	0.93731	0.7041	10	0.87932	D	0	-25.1358	17.7641	0.88471	0.0:0.0:1.0:0.0	.	1159;1550	Q8NEY1-5;Q8NEY1-3	.;.	H	1506;1553;1550;1545;1493;1159	ENSP00000356271:R1506H;ENSP00000356265:R1553H;ENSP00000295624:R1550H;ENSP00000356266:R1545H;ENSP00000356269:R1493H;ENSP00000356264:R1159H	ENSP00000295624:R1550H	R	+	2	0	NAV1	200046370	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.577000	0.98196	2.503000	0.84419	0.585000	0.79938	CGC		0.627	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1		NM_020443	
NRAP	4892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	115356916	115356916	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr10:115356916T>G	ENST00000359988.3	-	37	4604	c.4360A>C	c.(4360-4362)Atc>Ctc	p.I1454L	NRAP_ENST00000369358.4_Missense_Mutation_p.I1462L|NRAP_ENST00000360478.3_Missense_Mutation_p.I1419L|NRAP_ENST00000369360.3_Missense_Mutation_p.I1427L	NM_001261463.1|NM_198060.3	NP_001248392.1|NP_932326.2			nebulin-related anchoring protein									p.I1454L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GTGAACTTGATACTGTCTGGT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											319.0	286.0	297.0					10																	115356916		2203	4300	6503	SO:0001583	missense	4892				CCDS7578.1, CCDS7579.1, CCDS73199.1	10q24-q26	2008-08-01			ENSG00000197893	ENSG00000197893			7988	protein-coding gene	gene with protein product		602873				12789664, 10320340	Standard	NM_006175		Approved		uc001lal.4	Q86VF7	OTTHUMG00000019072	ENST00000359988.3:c.4360A>C	10.37:g.115356916T>G	ENSP00000353078:p.Ile1454Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000359988.3	37	CCDS7579.1	.	.	.	.	.	.	.	.	.	.	T	4.053	0.007608	0.07866	.	.	ENSG00000197893	ENST00000369358;ENST00000369360;ENST00000359988;ENST00000360478;ENST00000369350	T;T;T;T	0.15372	2.65;2.7;2.52;2.43	5.99	3.6	0.41247	.	0.213391	0.43416	N	0.000573	T	0.05181	0.0138	N	0.01874	-0.695	0.31728	N	0.637464	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.0;0.001;0.003;0.001	T	0.37291	-0.9712	10	0.02654	T	1	.	9.8948	0.41311	0.1068:0.0:0.4204:0.4728	.	612;1454;1419;1454	B1ANW7;A0AVL2;Q86VF7-4;Q86VF7	.;.;.;NRAP_HUMAN	L	1462;1427;1454;1419;612	ENSP00000358365:I1462L;ENSP00000358367:I1427L;ENSP00000353078:I1454L;ENSP00000353666:I1419L	ENSP00000353078:I1454L	I	-	1	0	NRAP	115346906	0.235000	0.23794	0.964000	0.40570	0.981000	0.71138	0.521000	0.22893	0.475000	0.27415	0.533000	0.62120	ATC		0.453	NRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050425.2		NM_006175	
OPHN1	4983	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	67273543	67273543	+	Silent	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chrX:67273543C>T	ENST00000355520.5	-	22	2909	c.2268G>A	c.(2266-2268)aaG>aaA	p.K756K	OPHN1_ENST00000540071.1_Silent_p.K648K	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	756	Pro-rich.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|negative regulation of proteasomal protein catabolic process (GO:1901799)|nervous system development (GO:0007399)|regulation of endocytosis (GO:0030100)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of synaptic transmission, glutamatergic (GO:0051966)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|terminal bouton (GO:0043195)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)	p.K756K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTGGTTCTGGCTTTTGGGGAG	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											100.0	74.0	83.0					X																	67273543		2203	4300	6503	SO:0001819	synonymous_variant	4983			AJ001189	CCDS14388.1	Xq12	2011-07-04			ENSG00000079482	ENSG00000079482		"""Rho GTPase activating proteins"""	8148	protein-coding gene	gene with protein product		300127	"""mental retardation, X-linked 60"""	MRX60		9195162, 9582072	Standard	NM_002547		Approved	OPN1, ARHGAP41	uc004dww.4	O60890	OTTHUMG00000021744	ENST00000355520.5:c.2268G>A	X.37:g.67273543C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B9EIP8|Q5JQ81|Q6PCC1|Q8WX47	Silent	SNP	ENST00000355520.5	37	CCDS14388.1																																																																																				0.542	OPHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057011.1		NM_002547	
PARP1	142	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	226551746	226551746	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr1:226551746A>G	ENST00000366794.5	-	20	2827	c.2684T>C	c.(2683-2685)aTc>aCc	p.I895T	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	895	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I895T(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		AGCGAAATAGATCCCTTTACC	0.488								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									1	Substitution - Missense(1)	kidney(1)											124.0	114.0	117.0					1																	226551746		2203	4300	6503	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2684T>C	1.37:g.226551746A>G	ENSP00000355759:p.Ile895Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	ENST00000366794.5	37	CCDS1554.1	.	.	.	.	.	.	.	.	.	.	A	28.8	4.951151	0.92660	.	.	ENSG00000143799	ENST00000366794	T	0.16324	2.35	6.17	6.17	0.99709	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.045054	0.85682	D	0.000000	T	0.54598	0.1868	M	0.93808	3.46	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	T	0.66763	-0.5841	10	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	895	P09874	PARP1_HUMAN	T	895	ENSP00000355759:I895T	ENSP00000355759:I895T	I	-	2	0	PARP1	224618369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.310000	0.96267	2.371000	0.80710	0.533000	0.62120	ATC		0.488	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091519.1		NM_001618	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52637692	52637694	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	ATT	ATT	ATT	-	ATT	ATT	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr3:52637692_52637694delATT	ENST00000296302.7	-	17	2623_2625	c.2622_2624delAAT	c.(2620-2625)aaaatt>aat	p.874_875KI>N	PBRM1_ENST00000356770.4_In_Frame_Del_p.842_843KI>N|PBRM1_ENST00000409767.1_In_Frame_Del_p.889_890KI>N|PBRM1_ENST00000410007.1_In_Frame_Del_p.874_875KI>N|PBRM1_ENST00000394830.3_In_Frame_Del_p.874_875KI>N|PBRM1_ENST00000409114.3_In_Frame_Del_p.889_890KI>N|PBRM1_ENST00000337303.4_In_Frame_Del_p.874_875KI>N|PBRM1_ENST00000409057.1_In_Frame_Del_p.874_875KI>N			Q86U86	PB1_HUMAN	polybromo 1	874					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I873fs*2(2)|p.I841fs*2(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCATCACGAATTTTAATAAAAA	0.355			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	3	Deletion - Frameshift(3)	kidney(3)																																								SO:0001651	inframe_deletion	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2622_2624delAAT	3.37:g.52637692_52637694delATT	ENSP00000296302:p.Lys874_Ile875delinsAsn	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	In_Frame_Del	DEL	ENST00000296302.7	37																																																																																					0.355	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PDE12	201626	hgsc.bcm.edu;ucsc.edu	37	3	57542938	57542938	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr3:57542938delA	ENST00000311180.8	+	1	935	c.832delA	c.(832-834)actfs	p.T278fs	PDE12_ENST00000487257.1_Frame_Shift_Del_p.T278fs	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	278					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TGGCACCTGCACTTTTGACCA	0.582																																					Colon(125;308 1634 19198 50622 50717)												0													84.0	84.0	84.0					3																	57542938		2203	4300	6503	SO:0001589	frameshift_variant	201626			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.832delA	3.37:g.57542938delA	ENSP00000309142:p.Thr278fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Frame_Shift_Del	DEL	ENST00000311180.8	37	CCDS33772.1																																																																																				0.582	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2		NM_177966	
PDE12	201626	hgsc.bcm.edu	37	3	57542940	57542940	+	Silent	SNP	T	T	C			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr3:57542940T>C	ENST00000311180.8	+	1	937	c.834T>C	c.(832-834)acT>acC	p.T278T	PDE12_ENST00000487257.1_Silent_p.T278T	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	278					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		GCACCTGCACTTTTGACCACC	0.587																																					Colon(125;308 1634 19198 50622 50717)												0													84.0	84.0	84.0					3																	57542940		2203	4300	6503	SO:0001819	synonymous_variant	201626			AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.834T>C	3.37:g.57542940T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Silent	SNP	ENST00000311180.8	37	CCDS33772.1																																																																																				0.587	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2		NM_177966	
TRIM37	4591	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	57058007	57058007	+	IGR	SNP	C	C	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:57058007C>T	ENST00000393066.3	-	0	3622				PPM1E_ENST00000308249.2_Missense_Mutation_p.T628I	NM_001005207.2	NP_001005207.1	O94972	TRI37_HUMAN	tripartite motif containing 37						aggresome assembly (GO:0070842)|negative regulation of centriole replication (GO:0046600)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autoubiquitination (GO:0051865)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|peroxisome (GO:0005777)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T628I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GAGTTTCCCACTGCTTTCAAT	0.433									Mulibrey Nanism																																								1	Substitution - Missense(1)	kidney(1)											140.0	142.0	141.0					17																	57058007		2203	4300	6503	SO:0001628	intergenic_variant	22843	Familial Cancer Database	Perheentupa syndrome	AB020705	CCDS32694.1, CCDS45746.1	17q	2014-02-17	2011-01-25	2001-11-30		ENSG00000108395		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	7523	protein-coding gene	gene with protein product	"""RING-B-box-coiled-coil protein"""	605073	"""tripartite motif-containing 37"""	MUL		9106536, 10888877	Standard	NM_015294		Approved	KIAA0898, POB1, TEF3	uc002iwy.4	O94972			17.37:g.57058007C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z3E6|Q8IYF7|Q8WYF7	Missense_Mutation	SNP	ENST00000393066.3	37	CCDS45746.1	.	.	.	.	.	.	.	.	.	.	C	9.786	1.176576	0.21704	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.18502	2.21	5.18	4.2	0.49525	.	0.684894	0.14000	N	0.348173	T	0.09512	0.0234	N	0.08118	0	0.19575	N	0.999969	B;B	0.12013	0.002;0.005	B;B	0.13407	0.001;0.009	T	0.22661	-1.0210	10	0.66056	D	0.02	0.4112	8.6623	0.34099	0.0:0.7653:0.1524:0.0823	.	637;628	Q8WY54-3;Q8WY54-2	.;.	I	628;479	ENSP00000312411:T628I	ENSP00000312411:T628I	T	+	2	0	PPM1E	54412789	0.978000	0.34361	0.996000	0.52242	0.947000	0.59692	2.525000	0.45598	1.151000	0.42436	0.491000	0.48974	ACT		0.433	TRIM37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445928.1		NM_015294	
RAB37	326624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	72739479	72739479	+	Splice_Site	SNP	G	G	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:72739479G>T	ENST00000392613.5	+	5	422	c.366G>T	c.(364-366)agG>agT	p.R122S	RAB37_ENST00000392610.1_Splice_Site_p.R122S|RAB37_ENST00000402449.4_Splice_Site_p.R115S|RAB37_ENST00000528438.1_Splice_Site_p.R95S|RAB37_ENST00000340415.3_Splice_Site_p.R115S|RAB37_ENST00000392615.5_Splice_Site_p.R90S|RAB37_ENST00000392612.3_Splice_Site_p.R85S|RAB37_ENST00000392614.4_Splice_Site_p.R127S	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	122					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)	p.R115S(2)|p.R122S(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						ACAACATCAGGGTAGGTCCTC	0.572																																																	3	Substitution - Missense(3)	kidney(3)											213.0	171.0	185.0					17																	72739479		2203	4300	6503	SO:0001630	splice_region_variant	326624			BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.366+1G>T	17.37:g.72739479G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MXF5|A8MYT0|Q8IWA7	Missense_Mutation	SNP	ENST00000392613.5	37	CCDS32722.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022508	0.75275	.	.	ENSG00000172794	ENST00000340415;ENST00000402449;ENST00000469248;ENST00000392617;ENST00000528438;ENST00000392615;ENST00000392614;ENST00000392613;ENST00000533530;ENST00000392612;ENST00000392610	T;T;T;T;T;T;T;T	0.76709	-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04;-1.04	5.06	5.06	0.68205	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.80839	0.4700	L	0.31120	0.905	0.80722	D	1	D;D;P;P;P;P;D	0.69078	0.972;0.997;0.759;0.929;0.924;0.851;0.992	P;P;P;P;P;P;P	0.62089	0.812;0.898;0.467;0.638;0.449;0.634;0.889	T	0.82577	-0.0388	10	0.54805	T	0.06	.	17.2219	0.86960	0.0:0.0:1.0:0.0	.	85;90;127;115;122;115;115	A8MXF5;A8MZI4;A8MYT0;Q96AX2-2;Q96AX2;A8MSP2;A8MUU7	.;.;.;.;RAB37_HUMAN;.;.	S	115;115;115;115;95;90;127;122;122;85;122	ENSP00000341354:R115S;ENSP00000383934:R115S;ENSP00000432086:R95S;ENSP00000376391:R90S;ENSP00000376390:R127S;ENSP00000376389:R122S;ENSP00000376388:R85S;ENSP00000376387:R122S	ENSP00000341354:R115S	R	+	3	2	RAB37	70251074	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.340000	0.43974	2.357000	0.79964	0.650000	0.86243	AGG		0.572	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2		NM_175738	Missense_Mutation
RAPGEF2	9693	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	160264133	160264133	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr4:160264133G>C	ENST00000264431.4	+	15	2857	c.2438G>C	c.(2437-2439)gGc>gCc	p.G813A		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	813	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.G801A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CCTCTCAGTGGCCTAAACCTG	0.368																																																	1	Substitution - Missense(1)	kidney(1)											49.0	46.0	47.0					4																	160264133		1894	4110	6004	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2438G>C	4.37:g.160264133G>C	ENSP00000264431:p.Gly813Ala	Somatic		WXS	Illumina HiSeq	Phase_I	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	37	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.897544	0.91962	.	.	ENSG00000109756	ENST00000264431	T	0.28454	1.61	5.82	5.82	0.92795	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.50616	0.1626	L	0.41632	1.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47649	-0.9101	10	0.87932	D	0	.	20.0926	0.97825	0.0:0.0:1.0:0.0	.	813	Q9Y4G8	RPGF2_HUMAN	A	813	ENSP00000264431:G813A	ENSP00000264431:G813A	G	+	2	0	RAPGEF2	160483583	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	9.757000	0.98924	2.745000	0.94114	0.561000	0.74099	GGC		0.368	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2		NM_014247	
RNASE11	122651	hgsc.bcm.edu;ucsc.edu	37	14	21052170	21052170	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr14:21052170delT	ENST00000610205.1	-	3	647	c.464delA	c.(463-465)aatfs	p.N155fs	RNASE11_ENST00000555841.1_Frame_Shift_Del_p.N155fs|RNASE11_ENST00000432835.2_Frame_Shift_Del_p.N155fs|RNASE11_ENST00000398009.2_Frame_Shift_Del_p.N155fs|RNASE11_ENST00000553849.1_Frame_Shift_Del_p.N155fs|RNASE11_ENST00000398008.2_Frame_Shift_Del_p.N155fs	NM_145250.3	NP_660293.1	Q8TAA1	RNS11_HUMAN	ribonuclease, RNase A family, 11 (non-active)	155						extracellular region (GO:0005576)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GCACACTGTATTTTCCAGTTC	0.498																																																	0													96.0	82.0	87.0					14																	21052170		2203	4300	6503	SO:0001589	frameshift_variant	122651			BC025410	CCDS9553.1	14q11.1	2013-08-05	2004-11-18	2004-11-18	ENSG00000173464	ENSG00000173464		"""Ribonucleases, RNase A"""	19269	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 6"""	C14orf6			Standard	NM_145250		Approved		uc001vxs.3	Q8TAA1	OTTHUMG00000170990	ENST00000610205.1:c.464delA	14.37:g.21052170delT	ENSP00000476537:p.Asn155fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Del	DEL	ENST00000610205.1	37	CCDS9553.1																																																																																				0.498	RNASE11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073662.3		NM_145250	
RND1	27289	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49251928	49251928	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr12:49251928A>T	ENST00000309739.5	-	5	680	c.550T>A	c.(550-552)Tcc>Acc	p.S184T		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	184					actin filament organization (GO:0007015)|axon guidance (GO:0007411)|GTP catabolic process (GO:0006184)|negative regulation of cell adhesion (GO:0007162)|neuron remodeling (GO:0016322)|small GTPase mediated signal transduction (GO:0007264)	adherens junction (GO:0005912)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|receptor binding (GO:0005102)	p.S184T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						CACAGCATGGATGCCGTCCGA	0.552																																																	1	Substitution - Missense(1)	kidney(1)											129.0	115.0	119.0					12																	49251928		2203	4300	6503	SO:0001583	missense	27289			Y07923	CCDS8771.1	12q12	2008-01-23				ENSG00000172602			18314	protein-coding gene	gene with protein product	"""ras homolog gene family, member S"""	609038				9531558	Standard	NM_014470		Approved	Rho6, ARHS, RHOS	uc001rsn.3	Q92730	OTTHUMG00000170400	ENST00000309739.5:c.550T>A	12.37:g.49251928A>T	ENSP00000308461:p.Ser184Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9P7	Missense_Mutation	SNP	ENST00000309739.5	37	CCDS8771.1	.	.	.	.	.	.	.	.	.	.	A	1.666	-0.510174	0.04231	.	.	ENSG00000172602	ENST00000550607;ENST00000309739	T;T	0.34472	3.32;1.36	5.1	5.1	0.69264	.	0.053929	0.85682	D	0.000000	T	0.09247	0.0228	N	0.00327	-1.64	0.48830	D	0.999715	B	0.17038	0.02	B	0.23150	0.044	T	0.32134	-0.9918	10	0.02654	T	1	-23.7611	11.1082	0.48216	0.8454:0.1546:0.0:0.0	.	184	Q92730	RND1_HUMAN	T	78;184	ENSP00000447059:S78T;ENSP00000308461:S184T	ENSP00000308461:S184T	S	-	1	0	RND1	47538195	0.959000	0.32827	0.940000	0.37924	0.806000	0.45545	2.375000	0.44283	2.231000	0.72958	0.454000	0.30748	TCC		0.552	RND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408915.1		NM_014470	
SCYL2	55681	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100704845	100704845	+	Silent	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr12:100704845G>A	ENST00000360820.2	+	5	941	c.504G>A	c.(502-504)ttG>ttA	p.L168L		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	168	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				endosome to lysosome transport (GO:0008333)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of receptor internalization (GO:0002092)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)	p.L168L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						TGTCATTCTTGCATAGCAGTG	0.284																																																	1	Substitution - coding silent(1)	kidney(1)											98.0	99.0	99.0					12																	100704845		2203	4300	6503	SO:0001819	synonymous_variant	55681			AB037781	CCDS9076.1	12q23.1	2005-01-20				ENSG00000136021			19286	protein-coding gene	gene with protein product						10718198	Standard	NM_017988		Approved	KIAA1360	uc001thn.3	Q6P3W7	OTTHUMG00000170319	ENST00000360820.2:c.504G>A	12.37:g.100704845G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8KAB5|Q96EF4|Q96ST4|Q9H7V5|Q9NVH3|Q9P2I7	Silent	SNP	ENST00000360820.2	37	CCDS9076.1																																																																																				0.284	SCYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408493.2		NM_017988	
SDSL	113675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	113865886	113865886	+	Silent	SNP	T	T	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr12:113865886T>A	ENST00000403593.4	+	2	361	c.99T>A	c.(97-99)ccT>ccA	p.P33P	SDSL_ENST00000345635.4_Silent_p.P33P			Q96GA7	SDSL_HUMAN	serine dehydratase-like	33					cellular amino acid metabolic process (GO:0006520)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	L-serine ammonia-lyase activity (GO:0003941)|L-threonine ammonia-lyase activity (GO:0004794)|pyridoxal phosphate binding (GO:0030170)	p.P33P(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15						CGGGCATGCCTGTCTTCCTCA	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											57.0	49.0	52.0					12																	113865886		2203	4300	6503	SO:0001819	synonymous_variant	113675			AF134473	CCDS9170.1	12q24.21	2014-06-24				ENSG00000139410			30404	protein-coding gene	gene with protein product						16580895	Standard	NM_138432		Approved	SDS-RS1, cSDH	uc001tvi.3	Q96GA7		ENST00000403593.4:c.99T>A	12.37:g.113865886T>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000403593.4	37	CCDS9170.1																																																																																				0.612	SDSL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404782.1		NM_138432	
SH2B1	25970	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	28878735	28878735	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr16:28878735G>T	ENST00000322610.8	+	5	1462	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D	SH2B1_ENST00000545570.1_Missense_Mutation_p.E31D|SH2B1_ENST00000538342.1_Missense_Mutation_p.E5D|SH2B1_ENST00000395532.4_Missense_Mutation_p.E341D|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.E341D|SH2B1_ENST00000337120.5_Missense_Mutation_p.E341D			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	341	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|PH.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.E341D(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CTGACCGGGAGAACACGTTTG	0.567																																																	2	Substitution - Missense(2)	kidney(2)											159.0	160.0	159.0					16																	28878735		2197	4300	6497	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1023G>T	16.37:g.28878735G>T	ENSP00000321221:p.Glu341Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	ENST00000322610.8	37	CCDS53996.1	.	.	.	.	.	.	.	.	.	.	G	9.891	1.204174	0.22205	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000538342;ENST00000395532;ENST00000337120	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	4.28	0.943	0.19531	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.162980	0.37761	N	0.001959	T	0.26159	0.0638	N	0.17838	0.53	0.39533	D	0.968703	B;B;B;B;B	0.29646	0.008;0.253;0.038;0.038;0.035	B;B;B;B;B	0.42692	0.008;0.395;0.028;0.028;0.037	T	0.07046	-1.0793	10	0.29301	T	0.29	-31.4209	5.7137	0.17948	0.195:0.2812:0.5239:0.0	.	5;31;341;341;341	B4DLN5;F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;.;SH2B1_HUMAN	D	341;31;341;5;341;341	ENSP00000321221:E341D;ENSP00000440354:E31D;ENSP00000352232:E341D;ENSP00000438784:E5D;ENSP00000378903:E341D;ENSP00000337163:E341D	ENSP00000321221:E341D	E	+	3	2	SH2B1	28786236	0.858000	0.29795	1.000000	0.80357	0.975000	0.68041	-0.140000	0.10342	0.909000	0.36697	0.563000	0.77884	GAG		0.567	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1		NM_015503	
SLC16A8	23539	broad.mit.edu;hgsc.bcm.edu	37	22	38476983	38476983	+	Silent	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr22:38476983G>A	ENST00000320521.5	-	4	1170	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	SLC16A8_ENST00000469516.1_Intron	NM_013356.2	NP_037488.2	O95907	MOT3_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 8	354					blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|lactate transmembrane transport (GO:0035873)|lactate transport (GO:0015727)|leukocyte migration (GO:0050900)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.G354G(1)		kidney(1)|large_intestine(1)|prostate(1)	3	Melanoma(58;0.045)				Pyruvic acid(DB00119)	CGTAGGAGAGGCCGAAGGCGA	0.701																																																	1	Substitution - coding silent(1)	kidney(1)											11.0	12.0	11.0					22																	38476983		2146	4180	6326	SO:0001819	synonymous_variant	23539			AF132610	CCDS13966.1	22q12.3-q13.2	2013-07-18	2013-07-18		ENSG00000100156	ENSG00000100156		"""Solute carriers"""	16270	protein-coding gene	gene with protein product	"""monocarboxylate transporter 3"""	610409	"""solute carrier 16 (monocarboxylic acid transporters), member 8"""			10493836	Standard	NM_013356		Approved	MCT3, REMP	uc003auu.3	O95907	OTTHUMG00000151196	ENST00000320521.5:c.1062C>T	22.37:g.38476983G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UBE2	Silent	SNP	ENST00000320521.5	37	CCDS13966.1																																																																																				0.701	SLC16A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321724.1		NM_013356	
TGM5	9333	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	43525807	43525807	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr15:43525807C>G	ENST00000220420.5	-	12	1961	c.1954G>C	c.(1954-1956)Gac>Cac	p.D652H	TGM5_ENST00000349114.4_Missense_Mutation_p.D570H	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	652					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.D652H(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGCACACAGTCCTCAACCTGC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											109.0	107.0	108.0					15																	43525807		2203	4299	6502	SO:0001583	missense	9333			AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1954G>C	15.37:g.43525807C>G	ENSP00000220420:p.Asp652His	Somatic		WXS	Illumina HiSeq	Phase_I	O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	C	9.322	1.058401	0.19987	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.34472	1.36;1.36	5.86	1.8	0.24995	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.181729	0.47852	D	0.000211	T	0.35422	0.0931	M	0.66506	2.035	0.21652	N	0.999604	B;B	0.19583	0.037;0.011	B;B	0.26614	0.071;0.044	T	0.33701	-0.9858	10	0.54805	T	0.06	-14.9674	8.9813	0.35966	0.0:0.6776:0.0:0.3224	.	570;652	O43548-2;O43548	.;TGM5_HUMAN	H	652;570;651	ENSP00000220420:D652H;ENSP00000220419:D570H	ENSP00000220420:D652H	D	-	1	0	TGM5	41313099	0.000000	0.05858	0.014000	0.15608	0.392000	0.30506	-0.149000	0.10204	0.072000	0.16694	-0.136000	0.14681	GAC		0.517	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1		NM_004245	
TRIM46	80128	hgsc.bcm.edu	37	1	155150596	155150597	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr1:155150596_155150597insG	ENST00000334634.4	+	6	1028_1029	c.1028_1029insG	c.(1027-1032)ctggccfs	p.A344fs	TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000545012.1_Frame_Shift_Ins_p.A218fs|TRIM46_ENST00000368383.3_Frame_Shift_Ins_p.A344fs|TRIM46_ENST00000543729.1_Frame_Shift_Ins_p.A351fs|TRIM46_ENST00000368385.4_Frame_Shift_Ins_p.A344fs|TRIM46_ENST00000392451.2_Frame_Shift_Ins_p.A344fs|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368382.1_Frame_Shift_Ins_p.A321fs	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	344						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGGAGCGGCTGGCCCGTCTCA	0.629																																																	0																																										SO:0001589	frameshift_variant	80128				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.1030dupG	1.37:g.155150598_155150598dupG	ENSP00000334657:p.Ala344fs	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Frame_Shift_Ins	INS	ENST00000334634.4	37	CCDS1097.1																																																																																				0.629	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1		NM_025058	
TYK2	7297	broad.mit.edu;hgsc.bcm.edu	37	19	10475698	10475698	+	Silent	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr19:10475698G>A	ENST00000525621.1	-	8	1519	c.1038C>T	c.(1036-1038)aaC>aaT	p.N346N	TYK2_ENST00000529370.1_Silent_p.N346N|TYK2_ENST00000264818.6_Silent_p.N346N|TYK2_ENST00000524462.1_Silent_p.N161N	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	346	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.N346N(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TGGCTTGGGGGTTCCTGCCAC	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											21.0	22.0	22.0					19																	10475698		2203	4299	6502	SO:0001819	synonymous_variant	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.1038C>T	19.37:g.10475698G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	CCDS12236.1																																																																																				0.622	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			
UBN1	29855	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4924865	4924865	+	Silent	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr16:4924865G>A	ENST00000396658.4	+	14	3157	c.2454G>A	c.(2452-2454)acG>acA	p.T818T	UBN1_ENST00000262376.6_Silent_p.T818T|UBN1_ENST00000590769.1_Silent_p.T818T|UBN1_ENST00000545171.1_Silent_p.T818T	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	818					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.T818T(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AAAACTTCACGCCCCCATCTC	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											69.0	72.0	71.0					16																	4924865		2197	4300	6497	SO:0001819	synonymous_variant	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.2454G>A	16.37:g.4924865G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z6D3|D3DUE8|Q13079|Q9P1P7	Silent	SNP	ENST00000396658.4	37	CCDS10525.1																																																																																				0.582	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1		NM_016936	
VWF	7450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6127762	6127762	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr12:6127762T>C	ENST00000261405.5	-	28	5076	c.4822A>G	c.(4822-4824)Acc>Gcc	p.T1608A		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1608	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.T1608A(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGATTTCCGGTGACCATGTAG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											56.0	53.0	54.0					12																	6127762		2203	4300	6503	SO:0001583	missense	7450				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4822A>G	12.37:g.6127762T>C	ENSP00000261405:p.Thr1608Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	16.82	3.228426	0.58777	.	.	ENSG00000110799	ENST00000261405	D	0.88201	-2.35	4.94	3.78	0.43462	von Willebrand factor, type A (3);	0.488214	0.17512	N	0.171569	D	0.91133	0.7208	H	0.96015	3.755	0.80722	D	1	B	0.31193	0.312	B	0.33454	0.164	D	0.91525	0.5237	10	0.72032	D	0.01	.	5.045	0.14479	0.1761:0.0965:0.0:0.7273	.	1608	P04275	VWF_HUMAN	A	1608	ENSP00000261405:T1608A	ENSP00000261405:T1608A	T	-	1	0	VWF	5998023	1.000000	0.71417	0.994000	0.49952	0.716000	0.41182	4.971000	0.63749	2.106000	0.64143	0.444000	0.29173	ACC		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552	
XRN2	22803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	21336744	21336744	+	Missense_Mutation	SNP	G	G	C	rs377309279		TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr20:21336744G>C	ENST00000377191.3	+	22	2142	c.2047G>C	c.(2047-2049)Gtc>Ctc	p.V683L	XRN2_ENST00000539513.1_Missense_Mutation_p.V629L|XRN2_ENST00000430571.2_Missense_Mutation_p.V607L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	683					cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.V683L(1)		endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGAGGTGATGTCTTATTTGT	0.383																																																	1	Substitution - Missense(1)	kidney(1)											136.0	131.0	132.0					20																	21336744		2203	4300	6503	SO:0001583	missense	22803			AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.2047G>C	20.37:g.21336744G>C	ENSP00000366396:p.Val683Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	37	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829138	0.32329	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.29142	1.58;1.58;1.58	5.93	5.93	0.95920	.	0.245802	0.39909	N	0.001222	T	0.19327	0.0464	L	0.28274	0.84	0.44030	D	0.996753	B	0.11235	0.004	B	0.06405	0.002	T	0.05386	-1.0888	10	0.02654	T	1	-14.7513	13.5351	0.61643	0.0709:0.0:0.9291:0.0	.	683	Q9H0D6	XRN2_HUMAN	L	683;607;629	ENSP00000366396:V683L;ENSP00000413548:V607L;ENSP00000441113:V629L	ENSP00000366396:V683L	V	+	1	0	XRN2	21284744	0.943000	0.32029	0.413000	0.26509	0.664000	0.39144	1.120000	0.31271	2.814000	0.96858	0.591000	0.81541	GTC		0.383	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2		NM_012255	
ZC3H3	23144	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	144620458	144620458	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr8:144620458T>G	ENST00000262577.5	-	2	1110	c.1079A>C	c.(1078-1080)aAg>aCg	p.K360T		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	360					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K360T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTCCTGGGCTTGGGCTCTGG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											55.0	57.0	57.0					8																	144620458		2201	4293	6494	SO:0001583	missense	23144			D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.1079A>C	8.37:g.144620458T>G	ENSP00000262577:p.Lys360Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	T	14.45	2.539028	0.45176	.	.	ENSG00000014164	ENST00000262577	T	0.05258	3.47	5.28	0.379	0.16213	.	0.403987	0.24438	N	0.038532	T	0.09335	0.0230	L	0.59436	1.845	0.09310	N	1	D	0.63880	0.993	P	0.49637	0.617	T	0.14671	-1.0464	10	0.66056	D	0.02	-13.9413	5.2812	0.15676	0.0:0.3139:0.145:0.5411	.	360	Q8IXZ2	ZC3H3_HUMAN	T	360	ENSP00000262577:K360T	ENSP00000262577:K360T	K	-	2	0	ZC3H3	144691601	0.445000	0.25657	0.435000	0.26784	0.759000	0.43091	0.638000	0.24674	0.044000	0.15775	0.533000	0.62120	AAG		0.622	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2		NM_015117	
ZKSCAN1	7586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99631582	99631582	+	Missense_Mutation	SNP	G	G	T	rs193920886		TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr7:99631582G>T	ENST00000324306.6	+	6	1688	c.1454G>T	c.(1453-1455)gGg>gTg	p.G485V	ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.G272V|ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.G449V	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	485					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.G485V(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATTCACACGGGGGAGAAACCC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											74.0	82.0	80.0					7																	99631582		2203	4300	6503	SO:0001583	missense	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1454G>T	7.37:g.99631582G>T	ENSP00000323148:p.Gly485Val	Somatic		WXS	Illumina HiSeq	Phase_I	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380040	0.82682	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.01599	4.74;4.74;4.74	5.08	5.08	0.68730	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000014	T	0.11879	0.0289	M	0.82923	2.615	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.00038	-1.2246	10	0.87932	D	0	.	16.3706	0.83357	0.0:0.0:1.0:0.0	.	485	P17029	ZKSC1_HUMAN	V	485;449;272	ENSP00000323148:G485V;ENSP00000409172:G449V;ENSP00000443508:G272V	ENSP00000323148:G485V	G	+	2	0	ZKSCAN1	99469518	1.000000	0.71417	0.993000	0.49108	0.993000	0.82548	5.568000	0.67385	2.802000	0.96397	0.563000	0.77884	GGG		0.478	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2		NM_003439	
ZNF215	7762	broad.mit.edu;ucsc.edu	37	11	6977426	6977426	+	Silent	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr11:6977426C>A	ENST00000278319.5	+	7	1806	c.1218C>A	c.(1216-1218)ccC>ccA	p.P406P	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Silent_p.P406P	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	406					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P406P(1)		NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GAGAGAAACCCTATAAATGCA	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											75.0	73.0	74.0					11																	6977426		2201	4296	6497	SO:0001819	synonymous_variant	7762			AF056618	CCDS7775.1	11p15.4	2013-01-09			ENSG00000149054	ENSG00000149054		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13007	protein-coding gene	gene with protein product		605016					Standard	XM_005253130		Approved	ZKSCAN11, ZSCAN43	uc001mey.3	Q9UL58	OTTHUMG00000165507	ENST00000278319.5:c.1218C>A	11.37:g.6977426C>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q96C84	Silent	SNP	ENST00000278319.5	37	CCDS7775.1																																																																																				0.398	ZNF215-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384550.1			
ALPP	250	broad.mit.edu	37	2	233246013	233246013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr2:233246013C>A	ENST00000392027.2	+	10	1514	c.1245C>A	c.(1243-1245)taC>taA	p.Y415*	AC068134.8_ENST00000439072.1_RNA|AC068134.8_ENST00000441266.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	415					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.Y415Y(2)|p.Y415*(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TCCTCCTATACGGAAACGGTC	0.667																																																	3	Substitution - coding silent(2)|Substitution - Nonsense(1)	kidney(2)|large_intestine(1)											35.0	45.0	42.0					2																	233246013		2202	4296	6498	SO:0001587	stop_gained	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1245C>A	2.37:g.233246013C>A	ENSP00000375881:p.Tyr415*	Somatic		WXS	Illumina GAIIx	Phase_I	P05188|P06861|Q53S78|Q96DB7	Nonsense_Mutation	SNP	ENST00000392027.2	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	C	36	5.885638	0.97068	.	.	ENSG00000163283	ENST00000392027	.	.	.	2.35	-0.463	0.12164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.6759	0.23093	0.0:0.3636:0.0:0.6364	.	.	.	.	X	415	.	ENSP00000375881:Y415X	Y	+	3	2	ALPP	232954257	0.003000	0.15002	0.067000	0.19924	0.005000	0.04900	-1.611000	0.02062	-0.198000	0.10333	-0.786000	0.03341	TAC		0.667	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3		NM_001632	
ANKRD20A1	84210	broad.mit.edu	37	9	67938633	67938633	+	Missense_Mutation	SNP	G	G	T	rs200989194	byFrequency	TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr9:67938633G>T	ENST00000377477.2	+	6	880	c.768G>T	c.(766-768)aaG>aaT	p.K256N	RNU6-368P_ENST00000391117.1_RNA	NM_032250.3	NP_115626.2	Q5TYW2	A20A1_HUMAN	ankyrin repeat domain 20 family, member A1	256						plasma membrane (GO:0005886)		p.K256N(2)		kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	11						AACATAAAAAGAAGATACTTA	0.249																																																	2	Substitution - Missense(2)	urinary_tract(1)|kidney(1)											9.0	11.0	10.0					9																	67938633		1501	3099	4600	SO:0001583	missense	441425			AL136793	CCDS6620.1	9p12	2014-04-16	2005-08-23	2005-08-23	ENSG00000196774	ENSG00000260691		"""Ankyrin repeat domain containing"""	23665	protein-coding gene	gene with protein product			"""ankyrin repeat domain 20A"""	ANKRD20A			Standard	NM_032250		Approved	DKFZp434A171		Q5TYW2	OTTHUMG00000188594	ENST00000377477.2:c.768G>T	9.37:g.67938633G>T	ENSP00000366697:p.Lys256Asn	Somatic		WXS	Illumina GAIIx	Phase_I	Q9H0H6	Missense_Mutation	SNP	ENST00000377477.2	37	CCDS6620.1	.	.	.	.	.	.	.	.	.	.	.	8.301	0.819993	0.16678	.	.	ENSG00000196774	ENST00000377477	T	0.37752	1.18	1.4	-1.97	0.07503	Ankyrin repeat-containing domain (2);	.	.	.	.	T	0.13372	0.0324	N	0.05230	-0.09	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.19745	-1.0296	9	0.29301	T	0.29	.	1.5748	0.02622	0.4716:0.0:0.2145:0.3139	.	256	Q5TYW2	A20A1_HUMAN	N	256	ENSP00000366697:K256N	ENSP00000366697:K256N	K	+	3	2	ANKRD20A1	67528453	0.778000	0.28640	0.019000	0.16419	0.050000	0.14768	0.163000	0.16520	-0.458000	0.07023	-1.594000	0.00841	AAG		0.249	ANKRD20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083800.1			
GOLGA6L5P	374650	broad.mit.edu	37	15	85055754	85055756	+	RNA	DEL	CTC	CTC	-			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	CTC	CTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr15:85055754_85055756delCTC	ENST00000560239.1	-	0	984				GOLGA6L5_ENST00000414190.2_RNA																							CACGTAGCCTCTCCTCCTGTTCA	0.547																																																	0																																												374650																															15.37:g.85055757_85055759delCTC		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000560239.1	37																																																																																					0.547	RP11-182J1.12-001	KNOWN	mRNA_end_NF|basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000418581.1			
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																																	0																																												54435			M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000457107.1	37																																																																																					0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1		NG_002729	
KRTAP4-1	85285	broad.mit.edu	37	17	39340475	39340477	+	3'UTR	DEL	TGC	TGC	-	rs200471154|rs3071131|rs10531365|rs397838335	byFrequency	TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	TGC	TGC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:39340475_39340477delTGC	ENST00000398472.1	-	0	1117_1119							Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1							keratin filament (GO:0045095)				kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GAGGTCTGAATGCTGCTGGGAAG	0.379														4768	0.952077	0.9395	0.9741	5008	,	,		17570	0.9484		0.9324	False		,,,				2504	0.9775																0																																										SO:0001624	3_prime_UTR_variant	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.*191GCA>-	17.37:g.39340478_39340480delTGC		Somatic		WXS	Illumina GAIIx	Phase_I	A8MWS7|Q3SYF2	Splice_Site	DEL	ENST00000398472.1	37																																																																																					0.379	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1		NM_033060	
C17orf50	146853	broad.mit.edu	37	17	34093633	34093633	+	IGR	SNP	G	G	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:34093633G>A	ENST00000285023.4	+	0	1018					NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50									p.D482D(1)					Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCAGTAGCGGTCATCTCGGA	0.672																																																	1	Substitution - coding silent(1)	kidney(1)											21.0	24.0	23.0					17																	34093633		2011	4165	6176	SO:0001628	intergenic_variant	79148			BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389		17.37:g.34093633G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q6Q621	Silent	SNP	ENST00000285023.4	37	CCDS42298.1																																																																																				0.672	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449132.1		NM_145272	
PSMC1	5700	broad.mit.edu	37	14	90730104	90730104	+	Silent	SNP	T	T	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr14:90730104T>G	ENST00000261303.8	+	5	481	c.378T>G	c.(376-378)tcT>tcG	p.S126S	PSMC1_ENST00000543772.2_Silent_p.S53S	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	126					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)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)	p.S126S(1)		endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		TGTCTACATCTGTGGGCTCAG	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											63.0	61.0	61.0					14																	90730104		2202	4280	6482	SO:0001819	synonymous_variant	5700			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.378T>G	14.37:g.90730104T>G		Somatic		WXS	Illumina GAIIx	Phase_I	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Silent	SNP	ENST00000261303.8	37	CCDS32139.1																																																																																				0.488	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411253.1		NM_002802	
SLC17A9	63910	broad.mit.edu	37	20	61594983	61594983	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr20:61594983T>A	ENST00000370351.4	+	7	904	c.773T>A	c.(772-774)cTc>cAc	p.L258H	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370349.3_Missense_Mutation_p.L252H	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	258					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.L258H(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TTCTTCATCCTCCTCTCCTGG	0.682																																																	1	Substitution - Missense(1)	kidney(1)											54.0	59.0	57.0					20																	61594983		2144	4246	6390	SO:0001583	missense	63910			AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.773T>A	20.37:g.61594983T>A	ENSP00000359376:p.Leu258His	Somatic		WXS	Illumina GAIIx	Phase_I	B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Missense_Mutation	SNP	ENST00000370351.4	37	CCDS42901.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158294	0.57368	.	.	ENSG00000101194	ENST00000370351;ENST00000370349	T;T	0.62105	0.05;0.05	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.065081	0.64402	D	0.000006	D	0.82765	0.5108	M	0.91140	3.18	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.87086	0.2169	10	0.87932	D	0	.	14.4569	0.67423	0.0:0.0:0.0:1.0	.	278;258;252	B4DPU8;Q9BYT1;Q9BYT1-2	.;S17A9_HUMAN;.	H	258;252	ENSP00000359376:L258H;ENSP00000359374:L252H	ENSP00000359374:L252H	L	+	2	0	SLC17A9	61065428	1.000000	0.71417	0.999000	0.59377	0.051000	0.14879	7.045000	0.76585	1.819000	0.53055	0.260000	0.18958	CTC		0.682	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1		NM_022082	
SPDYE7P	441251	broad.mit.edu	37	7	72333538	72333538	+	IGR	SNP	G	G	A	rs146152373	byFrequency	TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr7:72333538G>A								RN7SL625P (21233 upstream) : POM121 (16397 downstream)																							AGTTCCTGCTGAAAATCCACA	0.488													.|||	475	0.0948482	0.3442	0.0245	5008	,	,		20620	0.0		0.003	False		,,,				2504	0.0																0																																										SO:0001628	intergenic_variant	441251																															7.37:g.72333538G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.488									
TFAP2C	7022	broad.mit.edu	37	20	55206674	55206674	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr20:55206674C>A	ENST00000201031.2	+	2	705	c.462C>A	c.(460-462)caC>caA	p.H154Q	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	154					cell-cell signaling (GO:0007267)|cerebral cortex development (GO:0021987)|dichotomous subdivision of terminal units involved in mammary gland duct morphogenesis (GO:0060598)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|forebrain neuron fate commitment (GO:0021877)|germ-line stem cell maintenance (GO:0030718)|hair follicle development (GO:0001942)|keratinocyte development (GO:0003334)|male gonad development (GO:0008584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermis development (GO:0045682)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sebaceous gland development (GO:0048733)|somatic stem cell maintenance (GO:0035019)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H154Q(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CCCACGCACACGCCCTGGATG	0.741																																																	1	Substitution - Missense(1)	kidney(1)											6.0	7.0	6.0					20																	55206674		2164	4240	6404	SO:0001583	missense	7022				CCDS13454.1	20q13.2	2008-07-17	2001-11-28		ENSG00000087510	ENSG00000087510			11744	protein-coding gene	gene with protein product	"""estrogen receptor factor 1"""	601602	"""transcription factor AP-2 gamma (activating enhancer-binding protein 2 gamma)"""			8661133	Standard	NM_003222		Approved	AP2-GAMMA, ERF1, TFAP2G, hAP-2g	uc002xya.3	Q92754	OTTHUMG00000032805	ENST00000201031.2:c.462C>A	20.37:g.55206674C>A	ENSP00000201031:p.His154Gln	Somatic		WXS	Illumina GAIIx	Phase_I	B4DWK3|O00685|O00730|Q86V30|Q8IVB6|Q9P1X2	Missense_Mutation	SNP	ENST00000201031.2	37	CCDS13454.1	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313449	0.60414	.	.	ENSG00000087510	ENST00000201031	T	0.80994	-1.44	5.59	4.65	0.58169	.	0.000000	0.85682	D	0.000000	D	0.86577	0.5966	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.85825	0.1388	10	0.48119	T	0.1	-24.8872	8.8787	0.35360	0.0:0.7754:0.0:0.2246	.	154	Q92754	AP2C_HUMAN	Q	154	ENSP00000201031:H154Q	ENSP00000201031:H154Q	H	+	3	2	TFAP2C	54640081	1.000000	0.71417	0.999000	0.59377	0.336000	0.28762	1.024000	0.30077	1.362000	0.46000	0.491000	0.48974	CAC		0.741	TFAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079823.2		NM_003222	
TSEN54	283989	broad.mit.edu	37	17	73518055	73518055	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr17:73518055T>G	ENST00000333213.6	+	8	929	c.893T>G	c.(892-894)tTc>tGc	p.F298C		NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	298					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)		p.F298C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCTGGAACTTCGAGCAGATC	0.706																																																	1	Substitution - Missense(1)	kidney(1)											18.0	20.0	19.0					17																	73518055		2191	4294	6485	SO:0001583	missense	283989			AK097583	CCDS11724.1	17q25.1	2013-08-06	2013-08-06		ENSG00000182173	ENSG00000182173		"""tRNA splicing endonuclease subunits"""	27561	protein-coding gene	gene with protein product		608755	"""tRNA splicing endonuclease 54 homolog (SEN54, S. cerevisiae)"", ""tRNA splicing endonuclease 54 homolog (S. cerevisiae)"""			15109492	Standard	NM_207346		Approved	SEN54, SEN54L	uc002jof.1	Q7Z6J9		ENST00000333213.6:c.893T>G	17.37:g.73518055T>G	ENSP00000327487:p.Phe298Cys	Somatic		WXS	Illumina GAIIx	Phase_I	Q86WV3|Q86XE4|Q8N9H2	Missense_Mutation	SNP	ENST00000333213.6	37	CCDS11724.1	.	.	.	.	.	.	.	.	.	.	T	24.5	4.537063	0.85812	.	.	ENSG00000182173	ENST00000333213	T	0.75704	-0.96	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.85358	0.5678	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86991	0.2110	10	0.72032	D	0.01	-8.3728	15.6093	0.76704	0.0:0.0:0.0:1.0	.	298	Q7Z6J9	SEN54_HUMAN	C	298	ENSP00000327487:F298C	ENSP00000327487:F298C	F	+	2	0	TSEN54	71029650	1.000000	0.71417	0.999000	0.59377	0.953000	0.61014	7.102000	0.77005	2.083000	0.62718	0.459000	0.35465	TTC		0.706	TSEN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447618.1		NM_207346	
SMG1P7	100506060	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-B0-5104-01A-01D-1421-08	TCGA-B0-5104-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c93a5a8-8c37-4295-b566-cb15edd464a4	d7121c44-3327-411d-a772-ce8d49e3c031	g.chr16:70268158A>C	ENST00000459379.1	-	0	0																											TTCTTCATTAAAACAGCTACT	0.333																																																	0																																												0																															16.37:g.70268158A>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.333	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
