#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	215839587	215839587	+	Splice_Site	SNP	T	T	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr2:215839587T>A	ENST00000272895.7	-	35	5602	c.5383A>T	c.(5383-5385)Aat>Tat	p.N1795Y	ABCA12_ENST00000389661.4_Splice_Site_p.N1477Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1795					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.N1795Y(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)		GGGTGATAATTACTGCAATAT	0.398																																					Ovarian(66;664 1488 5121 34295)												1	Substitution - Missense(1)	kidney(1)											126.0	127.0	127.0					2																	215839587		2203	4300	6503	SO:0001630	splice_region_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.5382-1A>T	2.37:g.215839587T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579686	0.46006	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.91180	-2.8;-2.78	5.7	5.7	0.88788	.	0.077794	0.53938	N	0.000042	D	0.93933	0.8058	M	0.63843	1.955	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.69307	0.963;0.939	D	0.94377	0.7601	10	0.72032	D	0.01	.	14.2213	0.65828	0.0:0.0:0.0:1.0	.	1795;1477	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	Y	1795;1477	ENSP00000272895:N1795Y;ENSP00000374312:N1477Y	ENSP00000272895:N1795Y	N	-	1	0	ABCA12	215547832	1.000000	0.71417	0.994000	0.49952	0.086000	0.17979	5.832000	0.69337	2.185000	0.69588	0.528000	0.53228	AAT		0.398	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1		NM_173076	Missense_Mutation
ABCA13	154664	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	48312610	48312610	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr7:48312610A>G	ENST00000435803.1	+	17	3371	c.3347A>G	c.(3346-3348)gAg>gGg	p.E1116G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1116					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E1061G(1)|p.E1116G(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAACAAGTGAGGAGTCTTCA	0.348																																																	2	Substitution - Missense(2)	kidney(2)											55.0	54.0	55.0					7																	48312610		1824	4077	5901	SO:0001583	missense	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.3347A>G	7.37:g.48312610A>G	ENSP00000411096:p.Glu1116Gly	Somatic		WXS	Illumina HiSeq	Phase_I	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	3.201	-0.163778	0.06502	.	.	ENSG00000179869	ENST00000435803	D	0.85484	-1.99	5.48	-4.02	0.04034	.	2.307080	0.01722	N	0.028322	T	0.70937	0.3281	N	0.21448	0.665	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.54377	-0.8303	9	.	.	.	.	2.0211	0.03509	0.5122:0.1041:0.2317:0.1519	.	1116	Q86UQ4	ABCAD_HUMAN	G	1116	ENSP00000411096:E1116G	.	E	+	2	0	ABCA13	48283156	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.362000	0.07602	-0.275000	0.09219	-0.256000	0.11100	GAG		0.348	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2		NM_152701	
AFF3	3899	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	100623119	100623119	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr2:100623119delT	ENST00000409236.2	-	5	960	c.848delA	c.(847-849)aagfs	p.K283fs	AFF3_ENST00000356421.2_Frame_Shift_Del_p.K308fs|AFF3_ENST00000409579.1_Frame_Shift_Del_p.K308fs|AFF3_ENST00000317233.4_Frame_Shift_Del_p.K283fs			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	283					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATGCTGAACTTGGAGAGCTT	0.532																																																	0													55.0	59.0	58.0					2																	100623119		2203	4300	6503	SO:0001589	frameshift_variant	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.848delA	2.37:g.100623119delT	ENSP00000387207:p.Lys283fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Frame_Shift_Del	DEL	ENST00000409236.2	37	CCDS42723.1																																																																																				0.532	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285	
APPL1	26060	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	57291081	57291081	+	Splice_Site	SNP	T	T	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr3:57291081T>A	ENST00000288266.3	+	14	1394		c.e14+2			NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|insulin receptor signaling pathway (GO:0008286)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic process (GO:0042981)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of glucose import (GO:0046324)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|protein kinase B binding (GO:0043422)	p.?(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AGCAGCAGGGTAAGTTACCAC	0.448																																																	1	Unknown(1)	kidney(1)											51.0	55.0	54.0					3																	57291081		2203	4300	6503	SO:0001630	splice_region_variant	26060			AB037849	CCDS2882.1	3p21.1-p14.3	2013-01-11			ENSG00000157500	ENSG00000157500		"""Pleckstrin homology (PH) domain containing"""	24035	protein-coding gene	gene with protein product		604299				10490823, 17030088	Standard	NM_012096		Approved	APPL	uc003dio.3	Q9UKG1	OTTHUMG00000133756	ENST00000288266.3:c.1247+2T>A	3.37:g.57291081T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9P2B9	Splice_Site	SNP	ENST00000288266.3	37	CCDS2882.1	.	.	.	.	.	.	.	.	.	.	T	15.74	2.923367	0.52653	.	.	ENSG00000157500	ENST00000288266	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1931	0.65652	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	APPL1	57266121	1.000000	0.71417	0.951000	0.38953	0.003000	0.03518	2.386000	0.44380	2.102000	0.63906	0.533000	0.62120	.		0.448	APPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258196.2		NM_012096	Intron
ARHGEF7	8874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	111953859	111953859	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr13:111953859G>A	ENST00000218789.5	+	20	2472	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	ARHGEF7_ENST00000370623.3_Missense_Mutation_p.E685K|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.E600K|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.E675K|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.E600K			Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	0					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E600K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			ATTAAAGGATGAAGTTCAAGA	0.353																																																	1	Substitution - Missense(1)	kidney(1)											274.0	234.0	247.0					13																	111953859		2203	4300	6503	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000218789.5:c.1975G>A	13.37:g.111953859G>A	ENSP00000218789:p.Glu659Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	ENST00000218789.5	37		.	.	.	.	.	.	.	.	.	.	G	18.07	3.541859	0.65198	.	.	ENSG00000102606	ENST00000370623;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737	T;T;T;T;T	0.56444	0.48;0.46;0.49;0.49;0.52	4.65	4.65	0.58169	.	.	.	.	.	T	0.69691	0.3139	M	0.65498	2.005	0.80722	D	1	D	0.65815	0.995	D	0.63488	0.915	T	0.73895	-0.3838	9	0.66056	D	0.02	.	17.9049	0.88915	0.0:0.0:1.0:0.0	.	675	B7Z6G2	.	K	685;659;600;600;675	ENSP00000359657:E685K;ENSP00000218789:E659K;ENSP00000364888:E600K;ENSP00000397068:E600K;ENSP00000364889:E675K	ENSP00000218789:E659K	E	+	1	0	ARHGEF7	110751860	1.000000	0.71417	1.000000	0.80357	0.241000	0.25554	8.829000	0.92055	2.306000	0.77630	0.555000	0.69702	GAA		0.353	ARHGEF7-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000045805.3		NM_001113511	
BRD7	29117	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	50357601	50357601	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr16:50357601T>C	ENST00000394688.3	-	12	1499	c.1340A>G	c.(1339-1341)gAg>gGg	p.E447G	BRD7_ENST00000394689.2_Missense_Mutation_p.E447G			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	447					cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.E447G(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GGCCAAAAACTCATGGATGCT	0.463																																																	1	Substitution - Missense(1)	kidney(1)											86.0	74.0	78.0					16																	50357601		2198	4300	6498	SO:0001583	missense	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.1340A>G	16.37:g.50357601T>C	ENSP00000378180:p.Glu447Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Missense_Mutation	SNP	ENST00000394688.3	37	CCDS10742.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.979229	0.92982	.	.	ENSG00000166164	ENST00000394688;ENST00000394689	T;T	0.51574	0.7;0.7	5.53	5.53	0.82687	.	0.099305	0.64402	D	0.000002	T	0.62085	0.2399	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.59767	0.986;0.982	P;P	0.56398	0.797;0.695	T	0.65928	-0.6049	10	0.62326	D	0.03	-36.3972	15.645	0.77042	0.0:0.0:0.0:1.0	.	447;447	Q9NPI1;Q9NPI1-2	BRD7_HUMAN;.	G	447	ENSP00000378180:E447G;ENSP00000378181:E447G	ENSP00000378180:E447G	E	-	2	0	BRD7	48915102	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.461000	0.80834	2.096000	0.63516	0.533000	0.62120	GAG		0.463	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3		NM_013263	
CEP290	80184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	88514013	88514013	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr12:88514013delT	ENST00000552810.1	-	15	1743	c.1400delA	c.(1399-1401)aatfs	p.N467fs	CEP290_ENST00000309041.7_Frame_Shift_Del_p.N467fs|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	467					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						GTTTTTACAATTCTTTATTTC	0.249																																																	0													61.0	52.0	55.0					12																	88514013		1788	4041	5829	SO:0001589	frameshift_variant	80184			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1400delA	12.37:g.88514013delT	ENSP00000448012:p.Asn467fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Del	DEL	ENST00000552810.1	37	CCDS55858.1																																																																																				0.249	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1		NM_025114	
CPB1	1360	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	148559631	148559631	+	Nonsense_Mutation	SNP	A	A	T	rs367547720		TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr3:148559631A>T	ENST00000491148.1	+	7	830	c.496A>T	c.(496-498)Aag>Tag	p.K166*	CPB1_ENST00000282957.4_Nonsense_Mutation_p.K166*			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	166						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.K166*(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			TGGACAAAATAAGCCTGCCAT	0.458																																																	1	Substitution - Nonsense(1)	kidney(1)											161.0	150.0	154.0					3																	148559631		2203	4300	6503	SO:0001587	stop_gained	1360			AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.496A>T	3.37:g.148559631A>T	ENSP00000417222:p.Lys166*	Somatic		WXS	Illumina HiSeq	Phase_I	O60834|Q53XJ0|Q96BQ8	Nonsense_Mutation	SNP	ENST00000491148.1	37	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	A	16.97	3.269454	0.59540	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	.	.	.	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.5066	0.75745	1.0:0.0:0.0:0.0	.	.	.	.	X	166;166;132	.	ENSP00000282957:K166X	K	+	1	0	CPB1	150042321	1.000000	0.71417	0.958000	0.39756	0.785000	0.44390	6.739000	0.74827	2.136000	0.66102	0.533000	0.62120	AAG		0.458	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1		NM_001871	
DCHS1	8642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	6652328	6652328	+	Missense_Mutation	SNP	G	G	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr11:6652328G>T	ENST00000299441.3	-	9	4297	c.3886C>A	c.(3886-3888)Caa>Aaa	p.Q1296K	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1296	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Q1296K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGCTGCCTTGGTCATGAGCA	0.617																																																	1	Substitution - Missense(1)	kidney(1)											38.0	31.0	33.0					11																	6652328		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3886C>A	11.37:g.6652328G>T	ENSP00000299441:p.Gln1296Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O15098	Missense_Mutation	SNP	ENST00000299441.3	37	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	G	5.882	0.346822	0.11126	.	.	ENSG00000166341	ENST00000299441	T	0.50548	0.74	4.83	4.83	0.62350	Cadherin (4);Cadherin-like (1);	0.000000	0.37530	N	0.002052	T	0.24586	0.0596	N	0.04148	-0.265	0.30579	N	0.762758	P	0.35077	0.483	B	0.37015	0.239	T	0.12682	-1.0538	10	0.05525	T	0.97	.	14.7808	0.69766	0.0:0.0:1.0:0.0	.	1296	Q96JQ0	PCD16_HUMAN	K	1296	ENSP00000299441:Q1296K	ENSP00000299441:Q1296K	Q	-	1	0	DCHS1	6608904	0.901000	0.30685	1.000000	0.80357	0.987000	0.75469	1.173000	0.31920	2.529000	0.85273	0.467000	0.42956	CAA		0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737	
DDIT4L	115265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	101108875	101108875	+	Missense_Mutation	SNP	G	G	C	rs58706659	byFrequency	TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr4:101108875G>C	ENST00000273990.2	-	3	755	c.541C>G	c.(541-543)Ctt>Gtt	p.L181V	RP11-588P8.1_ENST00000515782.1_RNA|RP11-15B17.1_ENST00000515026.1_RNA	NM_145244.3	NP_660287.1	Q96D03	DDT4L_HUMAN	DNA-damage-inducible transcript 4-like	181					negative regulation of signal transduction (GO:0009968)	cytoplasm (GO:0005737)		p.L181V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(2)	12				OV - Ovarian serous cystadenocarcinoma(123;5.75e-09)		AGTGAGTAAAGTTTTTTCTTA	0.378																																																	1	Substitution - Missense(1)	kidney(1)											58.0	64.0	62.0					4																	101108875		2203	4300	6503	SO:0001583	missense	115265			BC013592	CCDS34036.1	4q23	2008-02-05				ENSG00000145358			30555	protein-coding gene	gene with protein product	"""regulated in development and DNA damage response 2"", "" similar to Smhs1 protein"""	607730				12477932	Standard	NM_145244		Approved	REDD2, Rtp801L	uc003hvq.3	Q96D03		ENST00000273990.2:c.541C>G	4.37:g.101108875G>C	ENSP00000354830:p.Leu181Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R7C3	Missense_Mutation	SNP	ENST00000273990.2	37	CCDS34036.1	.	.	.	.	.	.	.	.	.	.	G	19.75	3.886008	0.72410	.	.	ENSG00000145358	ENST00000273990	T	0.63580	-0.05	5.95	5.95	0.96441	.	0.000000	0.64402	D	0.000001	T	0.77130	0.4085	M	0.79475	2.455	0.45594	D	0.998533	D	0.76494	0.999	D	0.85130	0.997	T	0.79135	-0.1928	10	0.87932	D	0	-13.8016	9.2293	0.37428	0.153:0.0:0.847:0.0	.	181	Q96D03	DDT4L_HUMAN	V	181	ENSP00000354830:L181V	ENSP00000354830:L181V	L	-	1	0	DDIT4L	101327898	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.353000	0.52247	2.824000	0.97209	0.655000	0.94253	CTT		0.378	DDIT4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363423.1		NM_145244	
FADS2	9415	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61624985	61624985	+	Missense_Mutation	SNP	G	G	A	rs140356378		TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr11:61624985G>A	ENST00000278840.4	+	7	1495	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	FADS2_ENST00000521849.1_Missense_Mutation_p.V289I|FADS2_ENST00000522056.1_Missense_Mutation_p.V258I|FADS2_ENST00000257261.6_Missense_Mutation_p.V267I	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	289					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.V289I(1)|p.V267I(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	GACCATGATCGTCCATAAGAA	0.602																																																	2	Substitution - Missense(2)	kidney(2)						G	ILE/VAL	0,4404		0,0,2202	124.0	110.0	115.0		865	1.3	0.0	11	dbSNP_134	115	1,8597	1.2+/-3.3	0,1,4298	no	missense	FADS2	NM_004265.2	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	289/445	61624985	1,13001	2202	4299	6501	SO:0001583	missense	9415			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.865G>A	11.37:g.61624985G>A	ENSP00000278840:p.Val289Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	G	2.296	-0.361316	0.05103	0.0	1.16E-4	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000278840;ENST00000521849;ENST00000521571;ENST00000355484	T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62	5.02	1.28	0.21552	Fatty acid desaturase, type 1 (1);	1.000500	0.08067	N	0.999297	T	0.24967	0.0606	N	0.12182	0.205	0.09310	N	1	P;B;B;B	0.35612	0.512;0.188;0.09;0.287	B;B;B;B	0.33568	0.166;0.067;0.017;0.103	T	0.15809	-1.0424	10	0.20046	T	0.44	-4.2623	4.524	0.11973	0.4303:0.1607:0.4091:0.0	.	258;289;289;267	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	I	267;258;289;289;55;55	ENSP00000257261:V267I;ENSP00000429500:V258I;ENSP00000278840:V289I;ENSP00000431091:V289I;ENSP00000443867:V55I;ENSP00000437965:V55I	ENSP00000257261:V267I	V	+	1	0	FADS2	61381561	0.000000	0.05858	0.017000	0.16124	0.141000	0.21300	-0.252000	0.08806	-0.024000	0.13941	-0.264000	0.10439	GTC		0.602	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2		NM_004265	
FAM63B	54629	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59146745	59146745	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr15:59146745G>A	ENST00000559228.1	+	9	1884	c.1802G>A	c.(1801-1803)cGg>cAg	p.R601Q	RP11-30K9.5_ENST00000558042.1_RNA|FAM63B_ENST00000450403.2_Missense_Mutation_p.R600Q			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	601								p.R601Q(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						GAACGTAAACGGAAGGAACCA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											59.0	56.0	57.0					15																	59146745		1841	4094	5935	SO:0001583	missense	54629			AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1802G>A	15.37:g.59146745G>A	ENSP00000452885:p.Arg601Gln	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT8|Q9ULQ6	Missense_Mutation	SNP	ENST00000559228.1	37	CCDS42046.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.859522	0.51376	.	.	ENSG00000128923	ENST00000316848;ENST00000450403	T	0.49432	0.78	5.96	5.96	0.96718	.	0.275088	0.25208	N	0.032331	T	0.56920	0.2018	L	0.27053	0.805	0.41782	D	0.989825	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.46048	-0.9219	10	0.17832	T	0.49	-8.4741	19.4074	0.94653	0.0:0.0:1.0:0.0	.	601;600	Q8NBR6;Q8NBR6-2	FA63B_HUMAN;.	Q	601;600	ENSP00000393231:R600Q	ENSP00000326194:R601Q	R	+	2	0	FAM63B	56934037	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.744000	0.68664	2.831000	0.97527	0.650000	0.86243	CGG		0.383	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1		NM_019092	
FBN3	84467	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	8196481	8196481	+	Silent	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr19:8196481G>A	ENST00000600128.1	-	15	2361	c.1947C>T	c.(1945-1947)caC>caT	p.H649H	FBN3_ENST00000601739.1_Silent_p.H649H|FBN3_ENST00000270509.2_Silent_p.H649H			Q75N90	FBN3_HUMAN	fibrillin 3	649	TB 3.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.H649H(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCCCAAAACCGTGGTCCGGAT	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											58.0	62.0	61.0					19																	8196481		2203	4300	6503	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1947C>T	19.37:g.8196481G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	CCDS12196.1																																																																																				0.642	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2		NM_032447	
GEMIN4	50628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	649388	649388	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr17:649388A>T	ENST00000319004.5	-	2	2013	c.1895T>A	c.(1894-1896)aTg>aAg	p.M632K	GEMIN4_ENST00000576778.1_Missense_Mutation_p.M621K	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	632					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)		p.M632K(2)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CACGGGACTCATCAGGCAGTT	0.478																																																	2	Substitution - Missense(2)	kidney(2)											98.0	99.0	99.0					17																	649388		1881	4110	5991	SO:0001583	missense	50628			AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.1895T>A	17.37:g.649388A>T	ENSP00000321706:p.Met632Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	A	8.146	0.786235	0.16189	.	.	ENSG00000179409	ENST00000319004	T	0.07908	3.15	5.48	4.37	0.52481	.	0.181464	0.56097	D	0.000022	T	0.08268	0.0206	L	0.42245	1.32	0.80722	D	1	B	0.30973	0.302	B	0.24541	0.054	T	0.10870	-1.0611	10	0.72032	D	0.01	-2.403	10.8928	0.47004	0.9253:0.0:0.0747:0.0	.	632	P57678	GEMI4_HUMAN	K	632	ENSP00000321706:M632K	ENSP00000321706:M632K	M	-	2	0	GEMIN4	596138	1.000000	0.71417	0.293000	0.24932	0.107000	0.19398	4.833000	0.62766	0.870000	0.35726	0.482000	0.46254	ATG		0.478	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1		NM_015721	
GPRIN1	114787	hgsc.bcm.edu	37	5	176026129	176026129	+	Missense_Mutation	SNP	C	C	A	rs142779818|rs550332435|rs199714570|rs371149640|rs386695335	byFrequency	TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr5:176026129C>A	ENST00000303991.4	-	2	884	c.707G>T	c.(706-708)gGg>gTg	p.G236V		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	236				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCAAAGACCCAGGATCCTC	0.498																																																	0													89.0	92.0	91.0					5																	176026129		2140	4202	6342	SO:0001583	missense	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.707G>T	5.37:g.176026129C>A	ENSP00000305839:p.Gly236Val	Somatic		WXS	Illumina HiSeq	Phase_I	C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489235	0.26686	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.08193	3.12	4.31	-5.97	0.02227	.	0.829122	0.09843	N	0.748618	T	0.07143	0.0181	M	0.74881	2.28	0.21256	N	0.999744	B	0.18013	0.025	B	0.18871	0.023	T	0.45600	-0.9250	10	0.24483	T	0.36	3.7158	0.2113	0.00156	0.3574:0.1616:0.2179:0.2631	.	236	Q7Z2K8	GRIN1_HUMAN	V	236	ENSP00000305839:G236V	ENSP00000305839:G236V	G	-	2	0	GPRIN1	175958735	0.000000	0.05858	0.001000	0.08648	0.496000	0.33645	-2.182000	0.01256	-0.780000	0.04553	0.313000	0.20887	GGG		0.498	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1		NM_052899	
GPRIN1	114787	hgsc.bcm.edu	37	5	176026138	176026138	+	Missense_Mutation	SNP	T	T	A	rs142779818|rs550332435|rs201635586|rs371149640|rs386695335	byFrequency	TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr5:176026138T>A	ENST00000303991.4	-	2	875	c.698A>T	c.(697-699)gAg>gTg	p.E233V		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	233				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGATCCTCCTTCCTCGG	0.488																																																	0													87.0	88.0	88.0					5																	176026138		2153	4218	6371	SO:0001583	missense	114787			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.698A>T	5.37:g.176026138T>A	ENSP00000305839:p.Glu233Val	Somatic		WXS	Illumina HiSeq	Phase_I	C9JM70|Q8ND74|Q96PZ4	Missense_Mutation	SNP	ENST00000303991.4	37	CCDS4405.1	.	.	.	.	.	.	.	.	.	.	T	12.30	1.897302	0.33535	.	.	ENSG00000169258	ENST00000303991;ENST00000335532	T	0.09163	3.01	4.92	2.48	0.30137	.	0.222228	0.23132	N	0.051562	T	0.12561	0.0305	M	0.77103	2.36	0.09310	N	1	B	0.30146	0.27	B	0.31337	0.128	T	0.18429	-1.0337	10	0.40728	T	0.16	-7.1862	3.6069	0.08046	0.1625:0.1858:0.0:0.6517	.	233	Q7Z2K8	GRIN1_HUMAN	V	233	ENSP00000305839:E233V	ENSP00000305839:E233V	E	-	2	0	GPRIN1	175958744	0.024000	0.19004	0.794000	0.32065	0.466000	0.32739	1.906000	0.39887	0.731000	0.32448	0.260000	0.18958	GAG		0.488	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1		NM_052899	
KIAA0368	23392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	114132845	114132845	+	Missense_Mutation	SNP	A	A	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr9:114132845A>T	ENST00000338205.5	-	44	5063	c.4844T>A	c.(4843-4845)cTg>cAg	p.L1615Q	KIAA0368_ENST00000465499.1_5'UTR|KIAA0368_ENST00000259335.4_Missense_Mutation_p.L1793Q|KIAA0368_ENST00000374378.3_Missense_Mutation_p.L79Q			Q5VYK3	ECM29_HUMAN	KIAA0368	1621					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)		p.L1793Q(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACATTCCTTCAGAACAGCTTG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											66.0	62.0	63.0					9																	114132845		1901	4109	6010	SO:0001583	missense	23392			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.4844T>A	9.37:g.114132845A>T	ENSP00000339889:p.Leu1615Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37		.	.	.	.	.	.	.	.	.	.	A	25.4	4.635223	0.87760	.	.	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000374383;ENST00000543827;ENST00000374378	T;T	0.70045	-0.45;-0.45	5.79	5.79	0.91817	.	0.080850	0.51477	D	0.000085	T	0.79644	0.4481	M	0.72894	2.215	0.53005	D	0.999967	D	0.65815	0.995	D	0.64042	0.921	T	0.79921	-0.1599	10	0.45353	T	0.12	.	16.1249	0.81386	1.0:0.0:0.0:0.0	.	1090	B3KXF2	.	Q	1615;1793;79;1090;79	ENSP00000259335:L1793Q;ENSP00000363499:L79Q	ENSP00000259335:L1793Q	L	-	2	0	KIAA0368	113172666	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.666000	0.91149	2.208000	0.71279	0.533000	0.62120	CTG		0.423	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2		NM_014686	
KLHL24	54800	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	183390233	183390233	+	Missense_Mutation	SNP	A	A	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr3:183390233A>C	ENST00000454652.2	+	8	1949	c.1563A>C	c.(1561-1563)gaA>gaC	p.E521D	KLHL24_ENST00000242810.6_Missense_Mutation_p.E521D|KLHL24_ENST00000476808.1_Missense_Mutation_p.E521D	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	521						cell projection (GO:0042995)|cytoplasm (GO:0005737)		p.E521D(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			ATCCAGTTGAAGATTACTGGA	0.393																																																	1	Substitution - Missense(1)	kidney(1)											88.0	70.0	76.0					3																	183390233		2203	4300	6503	SO:0001583	missense	54800				CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1563A>C	3.37:g.183390233A>C	ENSP00000395012:p.Glu521Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702711	0.48307	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.78364	-1.17;-1.17;-1.17	5.9	2.28	0.28536	Galactose oxidase, beta-propeller (1);	0.191364	0.47852	D	0.000204	T	0.65069	0.2656	N	0.25485	0.75	0.50313	D	0.999866	B;B	0.28636	0.218;0.077	B;B	0.33121	0.06;0.158	T	0.56141	-0.8028	10	0.41790	T	0.15	.	9.2076	0.37298	0.5689:0.0:0.4311:0.0	.	521;521	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	D	521	ENSP00000242810:E521D;ENSP00000395012:E521D;ENSP00000419010:E521D	ENSP00000242810:E521D	E	+	3	2	KLHL24	184872927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.079000	0.30766	0.151000	0.19162	0.528000	0.53228	GAA		0.393	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2		NM_017644	
CERS4	79603	hgsc.bcm.edu;ucsc.edu	37	19	8322788	8322790	+	In_Frame_Del	DEL	AGT	AGT	-			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	AGT	AGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr19:8322788_8322790delAGT	ENST00000251363.5	+	10	1067_1069	c.767_769delAGT	c.(766-771)cagtat>cat	p.256_257QY>H	CERS4_ENST00000559450.1_In_Frame_Del_p.256_257QY>H|CERS4_ENST00000595722.1_3'UTR|CERS4_ENST00000558331.1_In_Frame_Del_p.205_206QY>H|CERS4_ENST00000559336.1_Intron	NM_024552.2	NP_078828.2	Q9HA82	CERS4_HUMAN	ceramide synthase 4	256	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										AACTACATGCAGTATCAGCAAGT	0.547																																																	0																																										SO:0001651	inframe_deletion	0				CCDS12197.1	19p13.2	2014-09-11	2011-07-08	2011-07-08	ENSG00000090661	ENSG00000090661		"""Homeoboxes / CERS class"""	23747	protein-coding gene	gene with protein product		615334	"""LAG1 longevity assurance homolog 4 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 4"""	LASS4			Standard	NM_024552		Approved	FLJ12089, Trh1	uc002mjg.3	Q9HA82	OTTHUMG00000172570	ENST00000251363.5:c.767_769delAGT	19.37:g.8322788_8322790delAGT	ENSP00000251363:p.Gln256_Tyr257delinsHis	Somatic		WXS	Illumina HiSeq	Phase_I	D6W665	In_Frame_Del	DEL	ENST00000251363.5	37	CCDS12197.1																																																																																				0.547	CERS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419200.1		NM_024552	
MAGEE2	139599	broad.mit.edu;hgsc.bcm.edu	37	X	75003527	75003527	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chrX:75003527G>A	ENST00000373359.2	-	1	1552	c.1360C>T	c.(1360-1362)Cca>Tca	p.P454S		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	454	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.P454S(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TAGGACAGTGGCCTGCATTCC	0.473																																																	1	Substitution - Missense(1)	kidney(1)											97.0	85.0	89.0					X																	75003527		2203	4300	6503	SO:0001583	missense	139599			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1360C>T	X.37:g.75003527G>A	ENSP00000362457:p.Pro454Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.045910	0.36085	.	.	ENSG00000186675	ENST00000373359	T	0.04809	3.55	2.63	2.63	0.31362	.	.	.	.	.	T	0.14614	0.0353	M	0.64404	1.975	0.22521	N	0.999021	D	0.65815	0.995	D	0.66602	0.945	T	0.04029	-1.0983	9	0.66056	D	0.02	.	7.9556	0.30040	0.0:0.0:1.0:0.0	.	454	Q8TD90	MAGE2_HUMAN	S	454	ENSP00000362457:P454S	ENSP00000362457:P454S	P	-	1	0	MAGEE2	74920252	1.000000	0.71417	0.650000	0.29550	0.651000	0.38670	2.604000	0.46274	1.586000	0.49944	0.417000	0.27973	CCA		0.473	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1		NM_138703	
NXPH4	11247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57619419	57619419	+	Silent	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr12:57619419G>A	ENST00000349394.5	+	2	991	c.816G>A	c.(814-816)aaG>aaA	p.K272K	Y_RNA_ENST00000365197.1_RNA	NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	272	V (Cys-rich).				neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.K272K(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TCTGTGCCAAGCCCTTCAAAG	0.577																																																	2	Substitution - coding silent(2)	kidney(2)											58.0	64.0	62.0					12																	57619419		2203	4300	6503	SO:0001819	synonymous_variant	11247			AF043469	CCDS8933.1	12q13.3	2014-09-04			ENSG00000182379	ENSG00000182379			8078	protein-coding gene	gene with protein product		604637				9570794	Standard	NM_007224		Approved	NPH4	uc009zpj.4	O95158	OTTHUMG00000171241	ENST00000349394.5:c.816G>A	12.37:g.57619419G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K4I4|Q7Z6L3|Q8N462	Silent	SNP	ENST00000349394.5	37	CCDS8933.1																																																																																				0.577	NXPH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412474.1		NM_007224	
ODF2	4957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	131256871	131256871	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr9:131256871A>G	ENST00000434106.3	+	17	2198	c.1835A>G	c.(1834-1836)gAg>gGg	p.E612G	ODF2_ENST00000604420.1_Missense_Mutation_p.E612G|ODF2_ENST00000372807.5_Missense_Mutation_p.E607G|ODF2_ENST00000351030.3_Missense_Mutation_p.E607G|ODF2_ENST00000372814.3_Missense_Mutation_p.E656G|ODF2_ENST00000393527.3_Missense_Mutation_p.E588G|ODF2_ENST00000372791.3_Missense_Mutation_p.E593G|ODF2_ENST00000393533.2_Missense_Mutation_p.E612G|ODF2_ENST00000444119.2_Missense_Mutation_p.E588G|ODF2_ENST00000448249.3_Missense_Mutation_p.E531G|ODF2_ENST00000546203.1_Missense_Mutation_p.E593G	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	612					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.E588G(1)|p.E656G(1)|p.E612G(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AAGCTGGCTGAGTGCCAAGAC	0.577																																																	3	Substitution - Missense(3)	kidney(3)											75.0	65.0	68.0					9																	131256871		2203	4300	6503	SO:0001583	missense	4957			AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1835A>G	9.37:g.131256871A>G	ENSP00000403453:p.Glu612Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	37	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593315	0.66219	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;D;D;D;D;T;T	0.86865	1.05;-2.18;-2.02;-2.02;-2.02;-2.18;1.08;1.09	5.4	5.4	0.78164	.	0.048281	0.85682	D	0.000000	D	0.90310	0.6969	M	0.73217	2.22	0.80722	D	1	P;P;B;P;P;P;P	0.52842	0.759;0.915;0.383;0.902;0.759;0.956;0.95	B;P;B;P;B;P;P	0.55824	0.256;0.662;0.116;0.462;0.256;0.785;0.662	D	0.90660	0.4589	10	0.56958	D	0.05	-27.7591	11.069	0.47993	0.8614:0.0:0.0:0.1386	.	593;607;531;612;593;612;588	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;ODFP2_HUMAN;.	G	612;656;607;612;588;531;593;593	ENSP00000377166:E612G;ENSP00000361901:E656G;ENSP00000342581:E607G;ENSP00000361882:E612G;ENSP00000307781:E588G;ENSP00000396687:E531G;ENSP00000437579:E593G;ENSP00000361877:E593G	ENSP00000307781:E588G	E	+	2	0	ODF2	130296692	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.478000	0.60230	2.047000	0.60756	0.459000	0.35465	GAG		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			
OSBPL6	114880	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179255817	179255817	+	Silent	SNP	T	T	G			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr2:179255817T>G	ENST00000190611.4	+	22	2695	c.2319T>G	c.(2317-2319)tcT>tcG	p.S773S	OSBPL6_ENST00000409045.3_Silent_p.S742S|OSBPL6_ENST00000315022.2_Silent_p.S777S|OSBPL6_ENST00000409631.1_Silent_p.S737S|OSBPL6_ENST00000392505.2_Silent_p.S798S|OSBPL6_ENST00000359685.3_Silent_p.S737S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	773					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.S798S(1)|p.S773S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTGGAATTCTAACATGAATG	0.428																																																	2	Substitution - coding silent(2)	kidney(2)											130.0	128.0	128.0					2																	179255817		2203	4300	6503	SO:0001819	synonymous_variant	114880			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2319T>G	2.37:g.179255817T>G		Somatic		WXS	Illumina HiSeq	Phase_I	B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	ENST00000190611.4	37	CCDS2277.1																																																																																				0.428	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2		NM_032523	
PDSS1	23590	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	26994248	26994248	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr10:26994248C>A	ENST00000376215.5	+	4	314	c.261C>A	c.(259-261)caC>caA	p.H87Q	PDSS1_ENST00000376203.5_Missense_Mutation_p.H87Q	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	87					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)	p.H87Q(1)		autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						GTAAAACACACAGTGGTGAAA	0.368																																																	1	Substitution - Missense(1)	kidney(1)											79.0	73.0	75.0					10																	26994248		2203	4300	6503	SO:0001583	missense	23590			AF118395	CCDS31168.1	10p12.2	2006-04-12	2006-02-14	2006-02-14	ENSG00000148459	ENSG00000148459			17759	protein-coding gene	gene with protein product	"""coenzyme Q1 homolog (yeast)"""	607429	"""trans-prenyltransferase"""	TPRT		10972372	Standard	NM_014317		Approved	TPT, COQ1	uc001isv.3	Q5T2R2	OTTHUMG00000017844	ENST00000376215.5:c.261C>A	10.37:g.26994248C>A	ENSP00000365388:p.His87Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q53F75|Q6P473|Q86WQ8|Q9Y2W5	Missense_Mutation	SNP	ENST00000376215.5	37	CCDS31168.1	.	.	.	.	.	.	.	.	.	.	C	6.443	0.449969	0.12223	.	.	ENSG00000148459	ENST00000376215;ENST00000376203;ENST00000396343	D	0.81739	-1.53	5.33	2.43	0.29744	Terpenoid synthase (1);	0.618333	0.17376	N	0.176497	T	0.57388	0.2050	N	0.12182	0.205	0.35206	D	0.774725	B;B	0.15473	0.013;0.001	B;B	0.12837	0.008;0.001	T	0.51810	-0.8658	10	0.05436	T	0.98	-26.9069	7.3796	0.26847	0.1618:0.4407:0.3975:0.0	.	87;87	Q5T2R2-2;Q5T2R2	.;DPS1_HUMAN	Q	87;87;48	ENSP00000365388:H87Q	ENSP00000365376:H87Q	H	+	3	2	PDSS1	27034254	0.660000	0.27420	0.296000	0.24974	0.933000	0.57130	1.012000	0.29924	0.208000	0.20626	-0.219000	0.12488	CAC		0.368	PDSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047276.1			
POLR2B	5431	broad.mit.edu;ucsc.edu	37	4	57887152	57887152	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr4:57887152G>A	ENST00000381227.1	+	18	2824	c.2411G>A	c.(2410-2412)gGc>gAc	p.G804D	POLR2B_ENST00000431623.2_Missense_Mutation_p.G729D|POLR2B_ENST00000314595.5_Missense_Mutation_p.G804D|POLR2B_ENST00000441246.2_Missense_Mutation_p.G797D			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	804					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)	p.G804D(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GTAGACCGCGGCTTCTTCAGG	0.353																																																	1	Substitution - Missense(1)	kidney(1)											104.0	96.0	98.0					4																	57887152		2203	4300	6503	SO:0001583	missense	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.2411G>A	4.37:g.57887152G>A	ENSP00000370625:p.Gly804Asp	Somatic		WXS	Illumina GAIIx	Phase_I	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	37	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.607608	0.66558	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	5.64	5.64	0.86602	DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.104089	0.64402	D	0.000003	T	0.81432	0.4821	M	0.64630	1.985	0.80722	D	1	D;D	0.89917	0.975;1.0	D;D	0.97110	0.949;1.0	T	0.82655	-0.0350	10	0.87932	D	0	.	12.9666	0.58488	0.0737:0.0:0.9263:0.0	.	729;804	C9J4M6;P30876	.;RPB2_HUMAN	D	804;729;797;804	ENSP00000370625:G804D;ENSP00000391096:G729D;ENSP00000391452:G797D;ENSP00000312735:G804D	ENSP00000312735:G804D	G	+	2	0	POLR2B	57581909	1.000000	0.71417	1.000000	0.80357	0.286000	0.27126	9.731000	0.98807	2.657000	0.90304	0.655000	0.94253	GGC		0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1		NM_000938	
PRPS1L1	221823	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	18066846	18066846	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr7:18066846A>G	ENST00000506618.2	-	1	640	c.560T>C	c.(559-561)gTg>gCg	p.V187A		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	187					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.V187A(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					AGCAAAGTCCACATTCAACTG	0.453																																																	2	Substitution - Missense(2)	kidney(2)											112.0	108.0	109.0					7																	18066846		2203	4300	6503	SO:0001583	missense	221823			M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.560T>C	7.37:g.18066846A>G	ENSP00000424595:p.Val187Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	A	13.83	2.353593	0.41700	.	.	ENSG00000229937	ENST00000506618	D	0.90732	-2.72	4.62	4.62	0.57501	Phosphoribosyltransferase (1);	.	.	.	.	D	0.83732	0.5318	L	0.28014	0.82	.	.	.	B	0.14012	0.009	B	0.24269	0.052	T	0.81254	-0.1016	8	0.16420	T	0.52	.	12.3001	0.54870	1.0:0.0:0.0:0.0	.	187	P21108	PRPS3_HUMAN	A	187	ENSP00000424595:V187A	ENSP00000424595:V187A	V	-	2	0	PRPS1L1	18033371	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.441000	0.90313	2.077000	0.62373	0.528000	0.53228	GTG		0.453	PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1		NM_175886	
PRUNE2	158471	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	79318764	79318764	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr9:79318764T>C	ENST00000376718.3	-	9	7888	c.7765A>G	c.(7765-7767)Act>Gct	p.T2589A	PRUNE2_ENST00000428286.1_Missense_Mutation_p.T2230A	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2589					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.T2589A(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCTAACTGAGTTCCCTGCAGC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											124.0	115.0	118.0					9																	79318764		1568	3582	5150	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.7765A>G	9.37:g.79318764T>C	ENSP00000365908:p.Thr2589Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	37	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	7.618|7.618	0.676137|0.676137	0.14841|0.14841	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000426088|ENST00000376718;ENST00000428286;ENST00000422033	.|T;T	.|0.46451	.|0.87;0.87	5.76|5.76	3.1|3.1	0.35709|0.35709	.|.	.|0.777662	.|0.11834	.|N	.|0.524917	T|T	0.45558|0.45558	0.1348|0.1348	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	1|1	.|P;P	.|0.48089	.|0.885;0.905	.|P;B	.|0.48189	.|0.57;0.444	T|T	0.23691|0.23691	-1.0181|-1.0181	5|10	.|0.37606	.|T	.|0.19	-7.6994|-7.6994	8.0679|8.0679	0.30672|0.30672	0.0:0.2347:0.0:0.7653|0.0:0.2347:0.0:0.7653	.|.	.|2589;2589	.|Q8WUY3-3;Q8WUY3	.|.;PRUN2_HUMAN	S|A	1910|2589;2230;2588	.|ENSP00000365908:T2589A;ENSP00000397425:T2230A	.|ENSP00000365908:T2589A	N|T	-|-	2|1	0|0	PRUNE2|PRUNE2	78508584|78508584	0.001000|0.001000	0.12720|0.12720	0.046000|0.046000	0.18839|0.18839	0.136000|0.136000	0.21042|0.21042	0.525000|0.525000	0.22956|0.22956	1.019000|1.019000	0.39547|0.39547	0.482000|0.482000	0.46254|0.46254	AAC|ACT		0.423	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2		NM_138818	
RBM43	375287	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152107578	152107581	+	Frame_Shift_Del	DEL	TCTC	TCTC	-			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	TCTC	TCTC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr2:152107578_152107581delTCTC	ENST00000331426.5	-	4	1064_1067	c.913_916delGAGA	c.(913-918)gagaaafs	p.EK305fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	305							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		ATCATTCTTTTCTCTCTATTTTCC	0.343																																																	0																																										SO:0001589	frameshift_variant	375287			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.913_916delGAGA	2.37:g.152107578_152107581delTCTC	ENSP00000331211:p.Glu305fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RMT5	Frame_Shift_Del	DEL	ENST00000331426.5	37	CCDS2191.1																																																																																				0.343	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2		NM_198557	
RTN2	6253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	45997582	45997582	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr19:45997582G>A	ENST00000245923.4	-	4	891	c.656C>T	c.(655-657)cCg>cTg	p.P219L	PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.P219L|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000589384.1_5'Flank|PPM1N_ENST00000396737.2_5'Flank	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	219					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)		p.P219L(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGATGGGGACGGAGTACCGGC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											64.0	56.0	59.0					19																	45997582		2203	4300	6503	SO:0001583	missense	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.656C>T	19.37:g.45997582G>A	ENSP00000245923:p.Pro219Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402769	0.62288	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	T;T	0.54866	0.55;0.6	5.68	4.64	0.57946	.	0.000000	0.51477	D	0.000096	T	0.58104	0.2099	L	0.29908	0.895	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.53816	-0.8385	10	0.25751	T	0.34	-19.9775	12.069	0.53605	0.0:0.0:0.8278:0.1722	.	219;219	O75298-2;O75298	.;RTN2_HUMAN	L	219	ENSP00000345127:P219L;ENSP00000245923:P219L	ENSP00000245923:P219L	P	-	2	0	RTN2	50689422	0.983000	0.35010	0.063000	0.19743	0.007000	0.05969	1.511000	0.35801	1.384000	0.46424	0.563000	0.77884	CCG		0.622	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1		NM_005619	
SCN3A	6328	broad.mit.edu;ucsc.edu	37	2	165946947	165946947	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr2:165946947T>C	ENST00000360093.3	-	28	6207	c.5716A>G	c.(5716-5718)Atc>Gtc	p.I1906V	AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000540861.1_Missense_Mutation_p.I389V|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1906V|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Missense_Mutation_p.I1857V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1906	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.I1906V(1)|p.I1857V(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGCTGAATGATAGCGGCAGAC	0.373																																																	2	Substitution - Missense(2)	kidney(2)											76.0	72.0	73.0					2																	165946947		2203	4300	6503	SO:0001583	missense	6328			AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.5716A>G	2.37:g.165946947T>C	ENSP00000353206:p.Ile1906Val	Somatic		WXS	Illumina GAIIx	Phase_I	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37		.	.	.	.	.	.	.	.	.	.	T	0.015	-1.558262	0.00910	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000540861	D;D;D;D	0.96522	-3.78;-3.78;-3.73;-4.04	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000004	D	0.91112	0.7202	N	0.05259	-0.085	0.35088	D	0.764041	B;P;B	0.41498	0.0;0.752;0.07	B;P;B	0.50970	0.001;0.655;0.023	D	0.89592	0.3828	10	0.02654	T	1	.	8.5415	0.33395	0.0:0.1433:0.0:0.8567	.	1857;1857;1906	Q9NY46-2;Q9NY46-4;Q9NY46-3	.;.;.	V	1906;1906;1857;389	ENSP00000353206:I1906V;ENSP00000283254:I1906V;ENSP00000386726:I1857V;ENSP00000439920:I389V	ENSP00000283254:I1906V	I	-	1	0	SCN3A	165655193	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.083000	0.30815	2.225000	0.72522	0.533000	0.62120	ATC		0.373	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_006922	
SLC12A5	57468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	44663593	44663593	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr20:44663593G>A	ENST00000454036.2	+	2	177	c.128G>A	c.(127-129)gGc>gAc	p.G43D	SLC12A5_ENST00000608944.1_5'UTR|SLC12A5_ENST00000372315.1_Missense_Mutation_p.G20D|SLC12A5_ENST00000243964.3_Missense_Mutation_p.G20D	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	43					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.G20D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCAGGTGATGGCAACCCCAAG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											217.0	165.0	183.0					20																	44663593		2203	4300	6503	SO:0001583	missense	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.128G>A	20.37:g.44663593G>A	ENSP00000387694:p.Gly43Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.921316	0.52653	.	.	ENSG00000124140	ENST00000454036;ENST00000372315;ENST00000539566;ENST00000243964	D;T;T;T	0.84660	-1.88;2.06;2.06;2.06	4.88	4.88	0.63580	.	0.388617	0.29376	N	0.012322	T	0.79488	0.4454	L	0.45352	1.415	0.43924	D	0.996577	B;B;B	0.20780	0.048;0.001;0.001	B;B;B	0.27170	0.077;0.004;0.001	T	0.72802	-0.4183	10	0.27082	T	0.32	.	10.6758	0.45785	0.0882:0.0:0.9118:0.0	.	43;20;20	Q9H2X9;Q9H2X9-2;A8K143	S12A5_HUMAN;.;.	D	43;20;20;20	ENSP00000387694:G43D;ENSP00000361389:G20D;ENSP00000446091:G20D;ENSP00000243964:G20D	ENSP00000243964:G20D	G	+	2	0	SLC12A5	44097000	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.157000	0.71846	2.679000	0.91253	0.655000	0.94253	GGC		0.532	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			
SLC27A5	10998	broad.mit.edu;hgsc.bcm.edu	37	19	59011001	59011001	+	Missense_Mutation	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr19:59011001G>A	ENST00000263093.2	-	7	1634	c.1525C>T	c.(1525-1527)Cgc>Tgc	p.R509C	SLC27A5_ENST00000594786.1_5'Flank|SLC27A5_ENST00000601355.1_Missense_Mutation_p.R425C|SLC27A5_ENST00000599700.1_5'Flank	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	509					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R509C(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CGGGGGCCGCGGTAGCCCACG	0.657																																																	1	Substitution - Missense(1)	kidney(1)											80.0	77.0	78.0					19																	59011001		2203	4300	6503	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.1525C>T	19.37:g.59011001G>A	ENSP00000263093:p.Arg509Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVP6|B4DPQ1	Missense_Mutation	SNP	ENST00000263093.2	37	CCDS12983.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365992	0.82463	.	.	ENSG00000083807	ENST00000263093	T	0.40225	1.04	5.26	1.69	0.24217	AMP-dependent synthetase/ligase (1);	0.384512	0.26788	N	0.022488	T	0.51856	0.1699	M	0.68593	2.085	0.43467	D	0.995678	D	0.65815	0.995	P	0.61658	0.892	T	0.50558	-0.8814	10	0.59425	D	0.04	-18.0939	5.8228	0.18536	0.0907:0.0:0.5689:0.3404	.	509	Q9Y2P5	S27A5_HUMAN	C	509	ENSP00000263093:R509C	ENSP00000263093:R509C	R	-	1	0	SLC27A5	63702813	0.996000	0.38824	0.958000	0.39756	0.852000	0.48524	1.991000	0.40727	0.711000	0.32018	0.462000	0.41574	CGC		0.657	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467060.1		NM_012254	
SLC28A2	9153	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45559654	45559654	+	Splice_Site	SNP	C	C	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr15:45559654C>T	ENST00000347644.3	+	11	1009	c.944C>T	c.(943-945)aCa>aTa	p.T315I	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	315					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)	p.T315I(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	TGTTTGTAGACAGAGGCACCT	0.547																																					NSCLC(92;493 1501 26361 28917 47116)												1	Substitution - Missense(1)	kidney(1)											168.0	163.0	165.0					15																	45559654		2198	4298	6496	SO:0001630	splice_region_variant	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.943-1C>T	15.37:g.45559654C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7F9|O43239|Q52LZ0	Missense_Mutation	SNP	ENST00000347644.3	37	CCDS10121.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.564123	0.86335	.	.	ENSG00000137860	ENST00000347644	T	0.28666	1.6	5.94	5.94	0.96194	Nucleoside recognition (1);	0.000000	0.85682	D	0.000000	T	0.58337	0.2115	M	0.80422	2.495	0.80722	D	1	D	0.63046	0.992	D	0.65010	0.931	T	0.61019	-0.7147	10	0.87932	D	0	-5.8716	17.853	0.88754	0.0:1.0:0.0:0.0	.	315	O43868	S28A2_HUMAN	I	315	ENSP00000315006:T315I	ENSP00000315006:T315I	T	+	2	0	SLC28A2	43346946	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.374000	0.79633	2.816000	0.96949	0.561000	0.74099	ACA		0.547	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254219.2		NM_004212	Missense_Mutation
SOCS4	122809	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55510990	55510991	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr14:55510990_55510991insT	ENST00000395472.2	+	2	1563_1564	c.1231_1232insT	c.(1231-1233)attfs	p.I411fs	SOCS4_ENST00000555846.1_Frame_Shift_Ins_p.I411fs|SOCS4_ENST00000339298.2_Frame_Shift_Ins_p.I411fs	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	411	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGCCCTTCCAATTCCTTCTTCT	0.371																																																	0																																										SO:0001589	frameshift_variant	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.1233dupT	14.37:g.55510992_55510992dupT	ENSP00000378855:p.Ile411fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000395472.2	37	CCDS9722.1																																																																																				0.371	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276910.1			
SVEP1	79987	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	113169878	113169878	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr9:113169878G>C	ENST00000401783.2	-	38	8338	c.8002C>G	c.(8002-8004)Cct>Gct	p.P2668A	SVEP1_ENST00000297826.5_Missense_Mutation_p.P594A|SVEP1_ENST00000374469.1_Missense_Mutation_p.P2645A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2668	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.P2671A(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGTGTAGCAGGAGACTCCTTT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											189.0	186.0	187.0					9																	113169878		1893	4120	6013	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8002C>G	9.37:g.113169878G>C	ENSP00000384917:p.Pro2668Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	ENST00000401783.2	37	CCDS48004.1	.	.	.	.	.	.	.	.	.	.	G	0.592	-0.832471	0.02713	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826;ENST00000374463	T;T;T	0.75367	-0.92;-0.93;-0.45	5.55	-1.13	0.09775	Complement control module (1);Sushi/SCR/CCP (3);	0.912598	0.09600	N	0.780325	T	0.54598	0.1868	L	0.48642	1.525	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.40683	-0.9550	10	0.05436	T	0.98	.	0.2043	0.00149	0.2389:0.1927:0.2344:0.3339	.	2668	Q4LDE5	SVEP1_HUMAN	A	2668;2645;594;340	ENSP00000384917:P2668A;ENSP00000363593:P2645A;ENSP00000297826:P594A	ENSP00000297826:P594A	P	-	1	0	SVEP1	112209699	0.003000	0.15002	0.047000	0.18901	0.202000	0.24057	0.048000	0.14078	0.047000	0.15862	-0.238000	0.12139	CCT		0.453	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
TAF1C	9013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	84215642	84215642	+	Silent	SNP	G	G	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr16:84215642G>T	ENST00000567759.1	-	8	926	c.744C>A	c.(742-744)acC>acA	p.T248T	TAF1C_ENST00000341690.6_Silent_p.T181T|TAF1C_ENST00000378541.4_Silent_p.T248T|TAF1C_ENST00000570117.1_5'UTR|TAF1C_ENST00000541676.1_Silent_p.T181T|TAF1C_ENST00000566732.1_Silent_p.T248T	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	248					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.T248T(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TGTCACCTGGGGTCAGAACGA	0.557																																																	1	Substitution - coding silent(1)	kidney(1)											69.0	69.0	69.0					16																	84215642		2200	4300	6500	SO:0001819	synonymous_variant	9013			L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.744C>A	16.37:g.84215642G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Silent	SNP	ENST00000567759.1	37	CCDS32496.1																																																																																				0.557	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2		NM_139353	
THBS3	7059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155169611	155169612	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	CA	CA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr1:155169611_155169612delCA	ENST00000368378.3	-	16	1883_1884	c.1863_1864delTG	c.(1861-1866)tgtgatfs	p.CD621fs	RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000457183.2_Frame_Shift_Del_p.CD501fs|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000541990.1_Frame_Shift_Del_p.CD150fs|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541576.1_Frame_Shift_Del_p.CD18fs|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	621					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCATTAGTATCACAGACATCCC	0.49																																																	0																																										SO:0001589	frameshift_variant	7059			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1863_1864delTG	1.37:g.155169613_155169614delCA	ENSP00000357362:p.Cys621fs	Somatic		WXS	Illumina HiSeq	Phase_I	B1AVR8|B4DQ20|Q8WV34	Frame_Shift_Del	DEL	ENST00000368378.3	37	CCDS1099.1																																																																																				0.490	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1		NM_007112	
TPI1	7167	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	6978057	6978057	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr12:6978057A>G	ENST00000229270.4	+	2	593	c.256A>G	c.(256-258)Atc>Gtc	p.I86V	TPI1_ENST00000535434.1_5'UTR|TPI1_ENST00000488464.2_5'UTR|TPI1_ENST00000396705.5_Missense_Mutation_p.I49V	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	86					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)	p.I49V(1)|p.I86V(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TACTGCCTATATCGACTTCGC	0.512											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	kidney(2)											74.0	68.0	70.0					12																	6978057		2203	4300	6503	SO:0001583	missense	7167				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.256A>G	12.37:g.6978057A>G	ENSP00000229270:p.Ile86Val	Somatic	638	WXS	Illumina HiSeq	Phase_I	B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Missense_Mutation	SNP	ENST00000229270.4	37	CCDS53740.1	.	.	.	.	.	.	.	.	.	.	A	16.84	3.234939	0.58886	.	.	ENSG00000111669	ENST00000229270;ENST00000396705	D;D	0.94497	-3.44;-3.44	4.52	3.36	0.38483	Aldolase-type TIM barrel (1);	0.084643	0.49305	U	0.000155	D	0.90679	0.7076	L	0.42686	1.345	0.80722	D	1	B	0.02656	0.0	B	0.21708	0.036	D	0.88342	0.2975	10	0.62326	D	0.03	.	9.4271	0.38586	0.6022:0.3978:0.0:0.0	.	86	P60174	TPIS_HUMAN	V	86;49	ENSP00000229270:I86V;ENSP00000379933:I49V	ENSP00000229270:I86V	I	+	1	0	TPI1	6848318	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.820000	0.48057	1.895000	0.54865	0.459000	0.35465	ATC		0.512	TPI1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258252.1		NM_000365	
TRPM7	54822	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50891477	50891477	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr15:50891477T>C	ENST00000313478.7	-	22	3286	c.3005A>G	c.(3004-3006)tAc>tGc	p.Y1002C	TRPM7_ENST00000560955.1_Missense_Mutation_p.Y1002C	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1002					actomyosin structure organization (GO:0031032)|calcium ion transmembrane transport (GO:0070588)|calcium-dependent cell-matrix adhesion (GO:0016340)|cellular magnesium ion homeostasis (GO:0010961)|ion transmembrane transport (GO:0034220)|necroptotic process (GO:0070266)|protein autophosphorylation (GO:0046777)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.Y1002C(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CACTACAATGTAGAACATATT	0.333																																																	1	Substitution - Missense(1)	kidney(1)											86.0	84.0	85.0					15																	50891477		1833	4079	5912	SO:0001583	missense	54822			AF346629	CCDS42035.1, CCDS73725.1	15q21	2011-12-14				ENSG00000092439		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17994	protein-coding gene	gene with protein product		605692				11161216, 11385574, 16382100	Standard	XM_005254486		Approved	CHAK1, LTRPC7, TRP-PLIK	uc001zyt.4	Q96QT4		ENST00000313478.7:c.3005A>G	15.37:g.50891477T>C	ENSP00000320239:p.Tyr1002Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZMF5|Q86VJ4|Q8NBW2|Q9BXB2|Q9NXQ2	Missense_Mutation	SNP	ENST00000313478.7	37	CCDS42035.1	.	.	.	.	.	.	.	.	.	.	T	19.98	3.926846	0.73327	.	.	ENSG00000092439	ENST00000313478	T	0.72835	-0.69	5.2	5.2	0.72013	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.86209	0.5878	M	0.89904	3.07	0.58432	D	0.999998	D	0.89917	1.0	D	0.70487	0.969	D	0.89301	0.3626	10	0.87932	D	0	-7.0677	14.707	0.69198	0.0:0.0:0.0:1.0	.	1002	Q96QT4	TRPM7_HUMAN	C	1002	ENSP00000320239:Y1002C	ENSP00000320239:Y1002C	Y	-	2	0	TRPM7	48678769	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.981000	0.70524	1.940000	0.56252	0.491000	0.48974	TAC		0.333	TRPM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418604.1		NM_017672	
UBA5	79876	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	132389115	132389115	+	Missense_Mutation	SNP	A	A	G			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr3:132389115A>G	ENST00000356232.4	+	5	1553	c.481A>G	c.(481-483)Atg>Gtg	p.M161V	UBA5_ENST00000473651.1_Missense_Mutation_p.M161V|UBA5_ENST00000494238.2_Missense_Mutation_p.M105V|UBA5_ENST00000264991.4_Missense_Mutation_p.M105V|UBA5_ENST00000493720.2_Missense_Mutation_p.M161V	NM_024818.3	NP_079094.1	Q9GZZ9	UBA5_HUMAN	ubiquitin-like modifier activating enzyme 5	161					protein ufmylation (GO:0071569)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|UFM1 activating enzyme activity (GO:0071566)	p.M161V(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCAACATTTCATGGATAGAAT	0.259																																																	1	Substitution - Missense(1)	kidney(1)											32.0	32.0	32.0					3																	132389115		2191	4292	6483	SO:0001583	missense	79876			AY253672	CCDS3076.1, CCDS3077.1	3q22	2007-11-30	2007-11-30	2007-11-30	ENSG00000081307	ENSG00000081307		"""Ubiquitin-like modifier activating enzymes"""	23230	protein-coding gene	gene with protein product	"""UBA5, ubiquitin-activating enzyme E1 homolog (yeast)"""	610552	"""ubiquitin-activating enzyme E1-domain containing 1"""	UBE1DC1		11230166, 15071506	Standard	NM_198329		Approved	FLJ23251	uc003epa.4	Q9GZZ9	OTTHUMG00000159759	ENST00000356232.4:c.481A>G	3.37:g.132389115A>G	ENSP00000348565:p.Met161Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJL3|D3DNC8|Q96ST1	Missense_Mutation	SNP	ENST00000356232.4	37	CCDS3076.1	.	.	.	.	.	.	.	.	.	.	A	11.17	1.559674	0.27827	.	.	ENSG00000081307	ENST00000264991;ENST00000356232;ENST00000493720;ENST00000473651;ENST00000494238;ENST00000464068;ENST00000489361	T;T;T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7;1.7;1.7	5.36	5.36	0.76844	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.11836	0.0288	N	0.03177	-0.4	0.80722	D	1	B;B	0.25772	0.051;0.134	B;B	0.21151	0.019;0.033	T	0.17471	-1.0368	10	0.12766	T	0.61	-20.7024	15.3489	0.74368	1.0:0.0:0.0:0.0	.	161;161	E7EWE1;Q9GZZ9	.;UBA5_HUMAN	V	105;161;161;161;105;71;105	ENSP00000264991:M105V;ENSP00000348565:M161V;ENSP00000417879:M161V;ENSP00000424984:M161V;ENSP00000418807:M105V;ENSP00000420055:M71V;ENSP00000417905:M105V	ENSP00000264991:M105V	M	+	1	0	UBA5	133871805	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.214000	0.77958	2.039000	0.60335	0.528000	0.53228	ATG		0.259	UBA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357187.2		NM_024818	
UBXN11	91544	broad.mit.edu;ucsc.edu	37	1	26609138	26609138	+	Splice_Site	SNP	A	A	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr1:26609138A>C	ENST00000374222.1	-	15	1757		c.e15+1		UBXN11_ENST00000374217.2_Splice_Site|UBXN11_ENST00000357089.4_Splice_Site|UBXN11_ENST00000314675.7_Splice_Site|UBXN11_ENST00000374221.3_Splice_Site|UBXN11_ENST00000374223.1_Splice_Site			Q5T124	UBX11_HUMAN	UBX domain protein 11							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.?(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CCCTGCACCCACCTGGCCTGC	0.632																																																	1	Unknown(1)	kidney(1)											63.0	71.0	68.0					1																	26609138		2045	4190	6235	SO:0001630	splice_region_variant	91544			AF521017	CCDS41286.1, CCDS41287.1, CCDS41288.1	1p36.11	2008-07-25	2008-07-25	2008-07-25	ENSG00000158062	ENSG00000158062		"""UBX domain containing"""	30600	protein-coding gene	gene with protein product	"""socius"""	609151	"""UBX domain containing 5"""	UBXD5		11940653	Standard	NM_183008		Approved	SOC, SOCI	uc001blw.3	Q5T124	OTTHUMG00000003382	ENST00000374222.1:c.1292+1T>G	1.37:g.26609138A>C		Somatic		WXS	Illumina GAIIx	Phase_I	D3DPK6|Q5T117|Q5T120|Q5T125|Q5T126|Q5T129|Q5T131|Q5T133|Q63HM6|Q71RB3|Q8IY27|Q8N1L6|Q8N9M4|Q8NA18|Q8NFE3|Q8NFE4|Q8NFE6	Splice_Site	SNP	ENST00000374222.1	37	CCDS41288.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.170741	0.38315	.	.	ENSG00000158062	ENST00000314675;ENST00000374223;ENST00000357089;ENST00000374221;ENST00000374222;ENST00000374217	.	.	.	4.99	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.0215	0.30412	0.9078:0.0:0.0922:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UBXN11	26481725	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	5.033000	0.64146	1.872000	0.54250	0.459000	0.35465	.		0.632	UBXN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000009500.1		NM_145345	Intron
UMODL1	89766	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	43533907	43533907	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr21:43533907G>T	ENST00000408910.2	+	13	2329	c.2329G>T	c.(2329-2331)Gaa>Taa	p.E777*	UMODL1_ENST00000400427.1_Nonsense_Mutation_p.E833*|UMODL1_ENST00000408989.2_Nonsense_Mutation_p.E905*|UMODL1_ENST00000400424.2_Nonsense_Mutation_p.E705*	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	777	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.E705*(1)|p.E905*(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ATGTGGGAAAGAAGGTGCCAG	0.483																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												2	Substitution - Nonsense(2)	kidney(2)											69.0	67.0	68.0					21																	43533907		1951	4145	6096	SO:0001587	stop_gained	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.2329G>T	21.37:g.43533907G>T	ENSP00000386147:p.Glu777*	Somatic		WXS	Illumina HiSeq	Phase_I	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Nonsense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.308951	0.81247	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910	.	.	.	4.7	2.73	0.32206	.	0.133319	0.32918	N	0.005492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.5033	12.4482	0.55664	0.0:0.3229:0.6771:0.0	.	.	.	.	X	833;705;905;777	.	.	E	+	1	0	UMODL1	42406976	0.958000	0.32768	0.038000	0.18304	0.005000	0.04900	1.993000	0.40747	1.323000	0.45263	-0.224000	0.12420	GAA		0.483	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			
USP34	9736	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	61575328	61575328	+	Silent	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr2:61575328G>A	ENST00000398571.2	-	15	2038	c.1962C>T	c.(1960-1962)tgC>tgT	p.C654C		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	654					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.C654C(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGTCCCCCAGGCAAATGCCTG	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											65.0	61.0	62.0					2																	61575328		1911	4118	6029	SO:0001819	synonymous_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.1962C>T	2.37:g.61575328G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1																																																																																				0.448	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			
VCAN	1462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	82834255	82834255	+	Silent	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr5:82834255T>C	ENST00000265077.3	+	8	5998	c.5433T>C	c.(5431-5433)agT>agC	p.S1811S	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Silent_p.S824S|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1811	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.S1811S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGCACAGCAGTATCCATCAAC	0.507																																																	1	Substitution - coding silent(1)	kidney(1)											58.0	64.0	62.0					5																	82834255		2203	4300	6503	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.5433T>C	5.37:g.82834255T>C		Somatic		WXS	Illumina HiSeq	Phase_I	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	ENST00000265077.3	37	CCDS4060.1																																																																																				0.507	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385	
WARS2	10352	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	119575670	119575670	+	Missense_Mutation	SNP	G	G	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr1:119575670G>C	ENST00000235521.4	-	6	973	c.947C>G	c.(946-948)cCa>cGa	p.P316R	WARS2_ENST00000537870.1_Missense_Mutation_p.P222R|WARS2_ENST00000369426.5_3'UTR	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	316					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)	p.P316R(1)|p.P316Q(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	ACGCTTAATTGGGGCAAACTT	0.498																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											126.0	128.0	127.0					1																	119575670		2203	4300	6503	SO:0001583	missense	10352			BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.947C>G	1.37:g.119575670G>C	ENSP00000235521:p.Pro316Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	CCDS900.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900275	0.92035	.	.	ENSG00000116874	ENST00000235521;ENST00000537870	T;T	0.35605	1.3;1.3	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.71350	0.3329	H	0.96015	3.755	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.85130	0.997;0.98	T	0.79992	-0.1569	10	0.87932	D	0	-10.0308	20.422	0.99049	0.0:0.0:1.0:0.0	.	259;316	B7Z6G7;Q9UGM6	.;SYWM_HUMAN	R	316;222	ENSP00000235521:P316R;ENSP00000438807:P222R	ENSP00000235521:P316R	P	-	2	0	WARS2	119377193	1.000000	0.71417	0.988000	0.46212	0.966000	0.64601	9.466000	0.97665	2.832000	0.97577	0.655000	0.94253	CCA		0.498	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1		NM_015836	
ZNF783	100289678	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	148963737	148963737	+	Silent	SNP	G	G	T			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr7:148963737G>T	ENST00000434415.1	+	2	499	c.336G>T	c.(334-336)cgG>cgT	p.R112R		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R112R(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			TGCAGAGGCGGCTGGAGAATG	0.652																																																	1	Substitution - coding silent(1)	kidney(1)											66.0	75.0	72.0					7																	148963737		2203	4300	6503	SO:0001819	synonymous_variant	100289678			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.336G>T	7.37:g.148963737G>T		Somatic		WXS	Illumina HiSeq	Phase_I	C9J9J2	Silent	SNP	ENST00000434415.1	37	CCDS56519.1																																																																																				0.652	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352715.1		NM_001195220	
RNU6-55P	100873763	broad.mit.edu	37	13	19442373	19442373	+	RNA	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr13:19442373G>A	ENST00000411092.1	-	0	107					NR_046929.1				RNA, U6 small nuclear 55, pseudogene																		GGCAATATCAGACCTAATATC	0.219																																																	0																																												0					13q11	2013-05-01	2013-05-01	2013-05-01	ENSG00000223024	ENSG00000223024			42545	pseudogene	RNA, pseudogene			"""RNA, U6 small nuclear 55"""	RNU6-55			Standard	NR_046929		Approved						13.37:g.19442373G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000411092.1	37																																																																																					0.219	RNU6-55P-201	KNOWN	basic	snRNA	snRNA			NR_046929	
COL4A2	1284	broad.mit.edu	37	13	111125466	111125466	+	Silent	SNP	T	T	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr13:111125466T>A	ENST00000360467.5	+	29	2700	c.2394T>A	c.(2392-2394)ctT>ctA	p.L798L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	798	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)	p.L798L(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TTAAAGGCCTTCCCGGAGACA	0.687																																																	1	Substitution - coding silent(1)	kidney(1)											12.0	15.0	14.0					13																	111125466		1916	4099	6015	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2394T>A	13.37:g.111125466T>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																				0.687	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2		NM_001846	
LOC644669	644669	broad.mit.edu	37	18	15325895	15325895	+	RNA	SNP	C	C	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr18:15325895C>A	ENST00000455308.2	-	0	309					NR_027417.1																						CATTTACCTTCATCAGAGTTG	0.398																																																	0																																												644669																															18.37:g.15325895C>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000455308.2	37																																																																																					0.398	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			
MUC4	4585	broad.mit.edu	37	3	195509322	195509322	+	Silent	SNP	G	G	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr3:195509322G>A	ENST00000463781.3	-	2	9588	c.9129C>T	c.(9127-9129)gtC>gtT	p.V3043V	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.V3043V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	984					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V3043V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGTGTCGGTGACAGGAAGCG	0.612																																																	1	Substitution - coding silent(1)	kidney(1)																																								SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9129C>T	3.37:g.195509322G>A		Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.612	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
OMP	4975	broad.mit.edu	37	11	76814080	76814080	+	Silent	SNP	C	C	T	rs199977260	byFrequency	TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr11:76814080C>T	ENST00000529803.1	+	1	195	c.195C>T	c.(193-195)ttC>ttT	p.F65F	CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000456580.2_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000531028.1_Intron	NM_006189.1	NP_006180.1	P47874	OMP_HUMAN	olfactory marker protein	65					neurogenesis (GO:0022008)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.F65F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGCTACAGTTCGAGCGCTGGA	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											38.0	49.0	45.0					11																	76814080		2162	4252	6414	SO:0001819	synonymous_variant	4975			U01212	CCDS53682.1	11q14-q21	2008-07-21				ENSG00000254550			8136	protein-coding gene	gene with protein product		164340				8499899	Standard	NM_006189		Approved		uc010rsk.2	P47874		ENST00000529803.1:c.195C>T	11.37:g.76814080C>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q562G2	Silent	SNP	ENST00000529803.1	37	CCDS53682.1																																																																																				0.627	OMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382570.1		NM_006189	
PDGFRA	5156	broad.mit.edu	37	4	55156677	55156677	+	Missense_Mutation	SNP	C	C	A			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr4:55156677C>A	ENST00000257290.5	+	22	3409	c.3078C>A	c.(3076-3078)gaC>gaA	p.D1026E	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D786E	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1026					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.D1026E(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTGACATTGACCCTGTCCCTG	0.572			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	1	Substitution - Missense(1)	kidney(1)											146.0	126.0	133.0					4																	55156677		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3078C>A	4.37:g.55156677C>A	ENSP00000257290:p.Asp1026Glu	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.798292	0.31777	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.76060	-0.99;-0.81	5.93	4.1	0.47936	.	0.000000	0.33813	U	0.004525	T	0.50360	0.1611	N	0.17474	0.49	0.80722	D	1	B	0.21606	0.058	B	0.17098	0.017	T	0.42172	-0.9467	10	0.06099	T	0.92	.	6.9735	0.24662	0.1419:0.7164:0.0:0.1417	.	1026	P16234	PGFRA_HUMAN	E	786;1026	ENSP00000423325:D786E;ENSP00000257290:D1026E	ENSP00000423325:D786E	D	+	3	2	FIP1L1;PDGFRA	54851434	0.985000	0.35326	1.000000	0.80357	0.355000	0.29361	0.252000	0.18278	1.506000	0.48736	0.563000	0.77884	GAC		0.572	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		NM_006206	
Unknown	0	broad.mit.edu	37	8	86786611	86786611	+	IGR	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr8:86786611T>C								REXO1L10P (27866 upstream) : CTA-392E5.1 (65322 downstream)																							ttcccggatatccttttttaa	0.418																																																	0																																										SO:0001628	intergenic_variant	254958																															8.37:g.86786611T>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.418									
ZNF512B	57473	broad.mit.edu	37	20	62595905	62595905	+	Missense_Mutation	SNP	T	T	C			TCGA-CW-5585-01A-01D-1534-10	TCGA-CW-5585-11A-01D-1535-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bd6d9aa8-d0ef-4810-a43c-eacdd846c44e	f3f5f3ab-e4d6-418a-aca2-feff7f19abd2	g.chr20:62595905T>C	ENST00000450537.1	-	6	1259	c.1199A>G	c.(1198-1200)gAg>gGg	p.E400G	ZNF512B_ENST00000217130.3_Missense_Mutation_p.E400G|ZNF512B_ENST00000369888.1_Missense_Mutation_p.E400G			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	400					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E400G(1)		NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CTTCAGTGCCTCCATGCCCCC	0.687																																																	1	Substitution - Missense(1)	kidney(1)											37.0	36.0	37.0					20																	62595905		2202	4299	6501	SO:0001583	missense	57473			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.1199A>G	20.37:g.62595905T>C	ENSP00000393795:p.Glu400Gly	Somatic		WXS	Illumina GAIIx	Phase_I	Q08AK9|Q9ULM4	Missense_Mutation	SNP	ENST00000450537.1	37	CCDS13548.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.570548	0.45798	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.27256	1.68;1.68;1.68	5.35	5.35	0.76521	.	0.382752	0.28176	N	0.016313	T	0.33440	0.0863	L	0.50333	1.59	0.49798	D	0.999826	P	0.52463	0.953	P	0.50109	0.631	T	0.04522	-1.0945	10	0.48119	T	0.1	-43.4413	13.0668	0.59038	0.0:0.0:0.0:1.0	.	400	Q96KM6	Z512B_HUMAN	G	400	ENSP00000358904:E400G;ENSP00000393795:E400G;ENSP00000217130:E400G	ENSP00000217130:E400G	E	-	2	0	ZNF512B	62066349	0.997000	0.39634	0.151000	0.22473	0.012000	0.07955	3.284000	0.51708	2.023000	0.59567	0.482000	0.46254	GAG		0.687	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1		NM_020713	
