#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_ORegAnno_bin	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
ABCA1	19	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	107564349	107564349	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr9:107564349G>T	ENST00000374736.3	-	34	5078	c.4684C>A	c.(4684-4686)Cta>Ata	p.L1562I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1562					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.L1562I(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	GCCAGCTTTAGGTGTTTCTTC	0.423																																																	1	Substitution - Missense(1)	kidney(1)											157.0	144.0	148.0					9																	107564349		2203	4300	6503	SO:0001583	missense	19			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4684C>A	9.37:g.107564349G>T	ENSP00000363868:p.Leu1562Ile		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.399355	0.62177	.	.	ENSG00000165029	ENST00000374736	D	0.89485	-2.52	5.78	2.21	0.28008	.	0.173853	0.50627	D	0.000119	D	0.87354	0.6156	L	0.53249	1.67	0.80722	D	1	B	0.26635	0.155	B	0.39339	0.297	T	0.81801	-0.0766	10	0.56958	D	0.05	.	8.2396	0.31652	0.6925:0.0:0.3075:0.0	.	1562	O95477	ABCA1_HUMAN	I	1562	ENSP00000363868:L1562I	ENSP00000363868:L1562I	L	-	1	2	ABCA1	106604170	1.000000	0.71417	0.999000	0.59377	0.929000	0.56500	4.089000	0.57685	0.199000	0.20427	-0.302000	0.09304	CTA		0.423	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1		NM_005502	
ACSM3	6296	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	20796410	20796410	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr16:20796410G>T	ENST00000289416.5	+	8	1599	c.1124G>T	c.(1123-1125)gGa>gTa	p.G375V	ACSM3_ENST00000440284.2_Missense_Mutation_p.G375V|ERI2_ENST00000300005.3_Intron|ACSM3_ENST00000567387.1_3'UTR|RNU6-944P_ENST00000364023.1_RNA|ACSM3_ENST00000450120.2_Missense_Mutation_p.G367V	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	375					cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)	p.G375V(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ATCTACGAAGGATATGGACAG	0.428																																																	2	Substitution - Missense(2)	kidney(2)											134.0	118.0	124.0					16																	20796410		2201	4300	6501	SO:0001583	missense	6296			D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.1124G>T	16.37:g.20796410G>T	ENSP00000289416:p.Gly375Val		O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Missense_Mutation	SNP	ENST00000289416.5	37	CCDS10589.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271931	0.80469	.	.	ENSG00000005187	ENST00000289416;ENST00000440284;ENST00000450120	T;T;T	0.47177	0.85;0.85;0.85	5.34	5.34	0.76211	AMP-dependent synthetase/ligase (1);	0.060811	0.64402	D	0.000005	T	0.67795	0.2931	M	0.83384	2.64	0.80722	D	1	P;P;D	0.54047	0.833;0.932;0.964	P;P;P	0.55577	0.6;0.708;0.779	T	0.71237	-0.4652	10	0.52906	T	0.07	-40.131	19.3973	0.94612	0.0:0.0:1.0:0.0	.	367;375;375	E7ETR5;Q53FZ2;Q53FZ2-2	.;ACSM3_HUMAN;.	V	375;375;367	ENSP00000289416:G375V;ENSP00000394565:G375V;ENSP00000395297:G367V	ENSP00000289416:G375V	G	+	2	0	ACSM3	20703911	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.123000	0.64703	2.660000	0.90430	0.655000	0.94253	GGA		0.428	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2		NM_005622	
ADAMTS2	9509	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	178579193	178579193	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr5:178579193T>G	ENST00000251582.7	-	10	1680	c.1579A>C	c.(1579-1581)Aag>Cag	p.K527Q	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.K527Q	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	527	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K527Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TTCTTGGTCTTGCAAAAGTAG	0.597																																																	1	Substitution - Missense(1)	kidney(1)											74.0	68.0	70.0					5																	178579193		2203	4300	6503	SO:0001583	missense	9509			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.1579A>C	5.37:g.178579193T>G	ENSP00000251582:p.Lys527Gln			Missense_Mutation	SNP	ENST00000251582.7	37	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	T	24.8	4.571119	0.86542	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	T;T	0.68624	-0.34;-0.34	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000015	T	0.72526	0.3471	L	0.31120	0.905	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.73219	-0.4052	10	0.42905	T	0.14	.	14.5676	0.68188	0.0:0.0:0.0:1.0	.	527;527	O95450-2;O95450	.;ATS2_HUMAN	Q	527	ENSP00000251582:K527Q;ENSP00000274609:K527Q	ENSP00000251582:K527Q	K	-	1	0	ADAMTS2	178511799	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.832000	0.86757	2.033000	0.60031	0.454000	0.30748	AAG		0.597	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1		NM_014244	
AIM1L	55057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	26663759	26663759	+	Silent	SNP	G	G	A			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr1:26663759G>A	ENST00000308182.5	-	9	1050	c.621C>T	c.(619-621)ctC>ctT	p.L207L	AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000527815.1_Silent_p.L378L			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	207	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.						carbohydrate binding (GO:0030246)	p.L207L(1)|p.L378L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GGATGACCCGGAGGGAGGTCA	0.592																																																	2	Substitution - coding silent(2)	kidney(2)											93.0	85.0	87.0					1																	26663759		2203	4300	6503	SO:0001819	synonymous_variant	55057					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.621C>T	1.37:g.26663759G>A			B2RNG3|Q5T137|Q5T150	Silent	SNP	ENST00000308182.5	37		.	.	.	.	.	.	.	.	.	.	G	8.991	0.977716	0.18812	.	.	ENSG00000176092	ENST00000429942	.	.	.	4.88	3.03	0.35002	.	.	.	.	.	T	0.46658	0.1404	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34004	-0.9846	4	.	.	.	.	3.3293	0.07079	0.2822:0.3542:0.2836:0.08	.	.	.	.	S	145	.	.	P	-	1	0	AIM1L	26536346	0.976000	0.34144	1.000000	0.80357	0.937000	0.57800	0.069000	0.14552	0.672000	0.31204	-0.823000	0.03104	CCG		0.592	AIM1L-201	KNOWN	basic	protein_coding	protein_coding			NM_001039775.2	
BTAF1	9044	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	93695500	93695500	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr10:93695500A>T	ENST00000265990.6	+	2	409	c.101A>T	c.(100-102)aAg>aTg	p.K34M		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	34					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K34M(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGTGGTGAAGCTTCATCCC	0.358																																																	1	Substitution - Missense(1)	kidney(1)											119.0	107.0	111.0					10																	93695500		2203	4300	6503	SO:0001583	missense	9044			AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.101A>T	10.37:g.93695500A>T	ENSP00000265990:p.Lys34Met		B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	A	21.7	4.190636	0.78789	.	.	ENSG00000095564	ENST00000265990	T	0.67698	-0.28	5.12	5.12	0.69794	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	D	0.87487	0.2424	10	0.87932	D	0	-1.8126	15.2191	0.73296	1.0:0.0:0.0:0.0	.	34	O14981	BTAF1_HUMAN	M	34	ENSP00000265990:K34M	ENSP00000265990:K34M	K	+	2	0	BTAF1	93685480	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.475000	0.81041	2.052000	0.61016	0.533000	0.62120	AAG		0.358	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4		NM_003972	
C12orf10	60314	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53700821	53700822	+	Nonsense_Mutation	DNP	GC	GC	AA			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr12:53700821_53700822GC>AA	ENST00000267103.5	+	7	1071_1072	c.1019_1020GC>AA	c.(1018-1020)tGC>tAA	p.C340*	C12orf10_ENST00000549488.1_Nonsense_Mutation_p.C177*|AAAS_ENST00000549983.1_5'Flank|C12orf10_ENST00000548632.1_Nonsense_Mutation_p.C265*	NM_021640.3	NP_067653	Q9HB07	MYG1_HUMAN	chromosome 12 open reading frame 10	340					locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.C340>?(1)|p.C340Y(1)|p.C340*(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						ATCCCTGGCTGCATCTTCGTCC	0.663																																																	3	Substitution - Missense(1)|Substitution - Nonsense(1)|Complex(1)	kidney(3)																																								SO:0001587	stop_gained	60314			AF289485	CCDS31810.1	12q13.13	2014-05-29			ENSG00000139637	ENSG00000139637			17590	protein-coding gene	gene with protein product	"""melanocyte related gene"", ""melanocyte proliferating gene 1"""	611366					Standard	NM_021640		Approved	MYG, MYG1, Gamm1	uc001scp.4	Q9HB07	OTTHUMG00000170030	Exception_encountered	12.37:g.53700821_53700822delinsAA	ENSP00000267103:p.Cys340*			Missense_Mutation|Nonsense_Mutation	SNP	ENST00000267103.5	37	CCDS31810.1																																																																																				0.663	C12orf10-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406906.1		NM_021640	
C1orf198	84886	broad.mit.edu	37	1	230979640	230979640	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr1:230979640A>T	ENST00000366663.5	-	3	527	c.387T>A	c.(385-387)agT>agA	p.S129R	C1orf198_ENST00000470540.1_Missense_Mutation_p.S91R|C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000523410.1_5'UTR	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	129						cytoplasm (GO:0005737)		p.S129R(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ACTCCATCTGACTCTAGGGTG	0.572																																																	1	Substitution - Missense(1)	kidney(1)											73.0	83.0	80.0					1																	230979640		2172	4240	6412	SO:0001583	missense	84886			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.387T>A	1.37:g.230979640A>T	ENSP00000355623:p.Ser129Arg		A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	A	15.70	2.910788	0.52439	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000522201	T;T	0.69175	-0.38;-0.38	4.29	1.9	0.25705	.	0.000000	0.85682	D	0.000000	T	0.78610	0.4310	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.76305	-0.3008	10	0.87932	D	0	-8.9005	7.3718	0.26806	0.7483:0.0:0.2517:0.0	.	129	Q9H425	CA198_HUMAN	R	129;91;86	ENSP00000355623:S129R;ENSP00000428172:S91R	ENSP00000355623:S129R	S	-	3	2	C1orf198	229046263	0.999000	0.42202	1.000000	0.80357	0.409000	0.31022	0.700000	0.25601	0.194000	0.20326	0.379000	0.24179	AGT		0.572	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2		NM_032800	
CD3EAP	10849	hgsc.bcm.edu	37	19	45912490	45912492	+	In_Frame_Del	DEL	AAG	AAG	-	rs374686338|rs35729377		TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr19:45912490_45912492delAAG	ENST00000309424.3	+	3	1752_1754	c.1264_1266delAAG	c.(1264-1266)aagdel	p.K428del	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K430del|ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	428	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		CACATCCACCaagaagaagaaga	0.557																																																	0																																										SO:0001651	inframe_deletion	10849			U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.1264_1266delAAG	19.37:g.45912499_45912501delAAG	ENSP00000310966:p.Lys428del		Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	CCDS12661.1																																																																																				0.557	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1		NM_012099	
CECR2	27443	broad.mit.edu	37	22	18021869	18021869	+	Silent	SNP	C	C	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr22:18021869C>T	ENST00000400585.2	+	16	1986	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L	CECR2_ENST00000400573.5_Silent_p.L657L|CECR2_ENST00000262608.8_Silent_p.L658L			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	699	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)		p.L657L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TTAACAGCCTCCGAGGACCCA	0.547																																																	1	Substitution - coding silent(1)	kidney(1)											33.0	33.0	33.0					22																	18021869		1971	4160	6131	SO:0001819	synonymous_variant	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.1548C>T	22.37:g.18021869C>T			A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Silent	SNP	ENST00000400585.2	37																																																																																					0.547	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000316226.2		NM_031413	
CELSR1	9620	hgsc.bcm.edu;ucsc.edu	37	22	46930036	46930036	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr22:46930036delT	ENST00000262738.3	-	1	3031	c.3032delA	c.(3031-3033)aacfs	p.N1012fs	CELSR1_ENST00000497509.1_5'UTR|CELSR1_ENST00000395964.1_Frame_Shift_Del_p.N1012fs	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1012	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CACTGGGTTGTTCTCCTCAAC	0.522																																																	0													98.0	98.0	98.0					22																	46930036		2203	4300	6503	SO:0001589	frameshift_variant	9620			AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.3032delA	22.37:g.46930036delT	ENSP00000262738:p.Asn1012fs		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Frame_Shift_Del	DEL	ENST00000262738.3	37	CCDS14076.1																																																																																				0.522	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1		NM_014246	
CLCN5	1184	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	49840554	49840554	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chrX:49840554A>G	ENST00000307367.2	+	4	601	c.310A>G	c.(310-312)Aac>Gac	p.N104D	CLCN5_ENST00000376091.3_Missense_Mutation_p.N174D|CLCN5_ENST00000376088.3_Missense_Mutation_p.N174D|CLCN5_ENST00000376108.3_Missense_Mutation_p.N104D			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	104					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.N104D(1)|p.N174D(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TTGTTGCTGGAACTCTGAGCA	0.428																																																	2	Substitution - Missense(2)	kidney(2)											161.0	133.0	143.0					X																	49840554		2203	4300	6503	SO:0001583	missense	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.310A>G	X.37:g.49840554A>G	ENSP00000304257:p.Asn104Asp		A1L475|B3KPN6|Q5JQD5|Q7RTN8	Missense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	A	12.59	1.984529	0.35036	.	.	ENSG00000171365	ENST00000376088;ENST00000376091;ENST00000376108;ENST00000307367	D;D;D;D	0.89415	-2.51;-2.51;-2.5;-2.5	5.0	2.59	0.31030	Chloride channel, core (1);	0.295036	0.36740	N	0.002432	T	0.77778	0.4181	N	0.16602	0.42	0.36186	D	0.849766	B;B	0.22146	0.0;0.065	B;B	0.19946	0.001;0.027	T	0.70425	-0.4875	10	0.48119	T	0.1	-12.1912	7.0805	0.25229	0.7263:0.0:0.2737:0.0	.	104;174	P51795;P51795-2	CLCN5_HUMAN;.	D	174;174;104;104	ENSP00000365256:N174D;ENSP00000365259:N174D;ENSP00000365276:N104D;ENSP00000304257:N104D	ENSP00000304257:N104D	N	+	1	0	CLCN5	49727294	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	4.302000	0.59092	0.212000	0.20703	0.430000	0.28490	AAC		0.428	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1			
CS	1431	broad.mit.edu;hgsc.bcm.edu	37	12	56669791	56669791	+	Silent	SNP	G	G	A	rs146737473		TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr12:56669791G>A	ENST00000351328.3	-	7	967	c.777C>T	c.(775-777)ctC>ctT	p.L259L	CS_ENST00000548567.1_Silent_p.L193L|CS_ENST00000542324.2_Silent_p.L246L	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	259					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)	p.L259L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		TGTGGATGGTGAGGTACAGGC	0.463																																																	1	Substitution - coding silent(1)	kidney(1)						G		0,4406		0,0,2203	119.0	104.0	109.0		777	4.5	1.0	12	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CS	NM_004077.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		259/467	56669791	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1431				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.777C>T	12.37:g.56669791G>A			Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Silent	SNP	ENST00000351328.3	37	CCDS8913.1																																																																																				0.463	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2		NM_004077	
DAPK3	1613	hgsc.bcm.edu	37	19	3964978	3964984	+	Frame_Shift_Del	DEL	GCAAACT	GCAAACT	-			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	GCAAACT	GCAAACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr19:3964978_3964984delGCAAACT	ENST00000545797.2	-	3	311_317	c.68_74delAGTTTGC	c.(67-75)cagtttgcgfs	p.QFA23fs	DAPK3_ENST00000301264.3_Frame_Shift_Del_p.QFA23fs			O43293	DAPK3_HUMAN	death-associated protein kinase 3	23	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCACGATCGCAAACTGGCCGCtgga	0.671																																																	0																																										SO:0001589	frameshift_variant	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.68_74delAGTTTGC	19.37:g.3964978_3964984delGCAAACT	ENSP00000442973:p.Gln23fs		A0AVN4|B3KQE2|Q05JY4	Frame_Shift_Del	DEL	ENST00000545797.2	37	CCDS12116.1																																																																																				0.671	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2		NM_001348	
DBI	1622	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	120129819	120129819	+	Splice_Site	SNP	A	A	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr2:120129819A>T	ENST00000355857.3	+	4	321		c.e4-1		DBI_ENST00000393103.2_Splice_Site|DBI_ENST00000409094.1_Splice_Site|DBI_ENST00000535617.1_Splice_Site|DBI_ENST00000311521.4_Splice_Site|DBI_ENST00000460901.1_Splice_Site|DBI_ENST00000535757.1_Splice_Site|DBI_ENST00000542275.1_Splice_Site	NM_001079862.1|NM_001178043.1	NP_001073331.1|NP_001171514.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)						hair follicle development (GO:0001942)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|transport (GO:0006810)|triglyceride metabolic process (GO:0006641)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|perinuclear endoplasmic reticulum (GO:0097038)	benzodiazepine receptor binding (GO:0030156)|lipid binding (GO:0008289)|long-chain fatty acyl-CoA binding (GO:0036042)|protein dimerization activity (GO:0046983)	p.?(1)		kidney(1)|lung(4)|skin(1)	6						GATTCCTTACAGGGACTTCCA	0.473																																																	1	Unknown(1)	kidney(1)											130.0	122.0	125.0					2																	120129819		2203	4300	6503	SO:0001630	splice_region_variant	1622			L76366	CCDS2126.1, CCDS42740.1, CCDS42741.1, CCDS74568.1	2q12-q21	2010-10-20	2010-04-30		ENSG00000155368	ENSG00000155368			2690	protein-coding gene	gene with protein product	"""endozepine"""	125950	"""diazepam binding inhibitor (GABA receptor modulator, acyl-Coenzyme A binding protein)"""			1440058	Standard	NM_001079863		Approved	ACBP, ACBD1	uc021vnj.1	P07108	OTTHUMG00000131403	ENST00000355857.3:c.191-1A>T	2.37:g.120129819A>T			B8ZWD2|B8ZWD6|B8ZWD7|P08869|Q4VWZ6|Q53SQ7|Q6IB48|Q9UCI8	Splice_Site	SNP	ENST00000355857.3	37	CCDS42740.1	.	.	.	.	.	.	.	.	.	.	A	15.53	2.860103	0.51482	.	.	ENSG00000155368	ENST00000355857;ENST00000535617;ENST00000535757;ENST00000409094;ENST00000311521;ENST00000542275;ENST00000393103	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9958	0.53201	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DBI	119846289	1.000000	0.71417	0.984000	0.44739	0.458000	0.32498	6.820000	0.75267	2.326000	0.78906	0.533000	0.62120	.		0.473	DBI-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330590.1		NM_020548	Intron
DHX35	60625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	37632409	37632409	+	Silent	SNP	T	T	A			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr20:37632409T>A	ENST00000252011.3	+	11	903	c.870T>A	c.(868-870)gtT>gtA	p.V290V	DHX35_ENST00000373325.2_Silent_p.V290V|DHX35_ENST00000373323.4_Silent_p.V259V	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	290	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)	p.V290V(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TAGAAACTGTTGTGTCGATGC	0.448																																																	1	Substitution - coding silent(1)	kidney(1)											145.0	137.0	140.0					20																	37632409		2203	4300	6503	SO:0001819	synonymous_variant	60625			AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	ENST00000252011.3:c.870T>A	20.37:g.37632409T>A			A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Silent	SNP	ENST00000252011.3	37	CCDS13310.1																																																																																				0.448	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2		NM_021931	
DIAPH3	81624	broad.mit.edu;hgsc.bcm.edu	37	13	60584726	60584726	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr13:60584726A>T	ENST00000400324.4	-	8	1069	c.849T>A	c.(847-849)aaT>aaA	p.N283K	DIAPH3_ENST00000400319.1_Missense_Mutation_p.N213K|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000377908.2_Missense_Mutation_p.N272K|DIAPH3_ENST00000400320.1_Missense_Mutation_p.N237K|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3_ENST00000267215.4_Missense_Mutation_p.N283K|DIAPH3_ENST00000400330.1_Missense_Mutation_p.N283K	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	283	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N283K(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTGTCATCATATTGGGGTGTC	0.378																																																	1	Substitution - Missense(1)	kidney(1)											51.0	53.0	52.0					13																	60584726		1866	4107	5973	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.849T>A	13.37:g.60584726A>T	ENSP00000383178:p.Asn283Lys		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	A	7.435	0.639433	0.14386	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.88201	-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	5.81	-4.62	0.03370	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.910122	0.09609	N	0.779100	T	0.79770	0.4503	L	0.39898	1.24	0.09310	N	0.999998	B;B;B;B;B	0.30584	0.286;0.219;0.219;0.183;0.056	B;B;B;B;B	0.32928	0.155;0.155;0.155;0.062;0.05	T	0.65651	-0.6116	10	0.02654	T	1	.	11.2097	0.48790	0.2743:0.0:0.6237:0.102	.	213;237;272;20;283	A8MYX0;C9JL55;C9JDG1;Q9NSV4-1;Q9NSV4	.;.;.;.;DIAP3_HUMAN	K	283;283;272;237;213;272;213;237;283;20;283	ENSP00000383178:N283K;ENSP00000383184:N283K;ENSP00000367141:N272K;ENSP00000383173:N213K;ENSP00000383174:N237K;ENSP00000267215:N283K	ENSP00000267214:N20K	N	-	3	2	DIAPH3	59482727	0.008000	0.16893	0.002000	0.10522	0.470000	0.32858	0.144000	0.16135	-1.063000	0.03177	-0.326000	0.08463	AAT		0.378	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3		NM_001042517	
DNAH7	56171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	196837108	196837108	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr2:196837108A>C	ENST00000312428.6	-	16	2016	c.1916T>G	c.(1915-1917)cTc>cGc	p.L639R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	639	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.L639R(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATACTCGATGAGGAAGGCGAG	0.393																																																	1	Substitution - Missense(1)	kidney(1)											183.0	165.0	171.0					2																	196837108		1867	4115	5982	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.1916T>G	2.37:g.196837108A>C	ENSP00000311273:p.Leu639Arg		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	15.01	2.707112	0.48412	.	.	ENSG00000118997	ENST00000312428	T	0.30182	1.54	4.75	4.75	0.60458	.	0.000000	0.64402	D	0.000009	T	0.60196	0.2250	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.68735	-0.5330	10	0.87932	D	0	.	14.2145	0.65783	1.0:0.0:0.0:0.0	.	639	Q8WXX0	DYH7_HUMAN	R	639	ENSP00000311273:L639R	ENSP00000311273:L639R	L	-	2	0	DNAH7	196545353	1.000000	0.71417	1.000000	0.80357	0.100000	0.18952	7.933000	0.87642	1.904000	0.55121	0.455000	0.32223	CTC		0.393	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3		NM_018897	
ABHD17A	81926	broad.mit.edu	37	19	1881411	1881411	+	Missense_Mutation	SNP	G	G	T	rs532663864		TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr19:1881411G>T	ENST00000292577.7	-	2	588	c.155C>A	c.(154-156)cCc>cAc	p.P52H	ABHD17A_ENST00000590661.1_Missense_Mutation_p.P52H|ABHD17A_ENST00000250974.9_Missense_Mutation_p.P52H	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	52						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.P52H(1)									GGTCCCCAAGGGGGCGGCCCC	0.746																																																	1	Substitution - Missense(1)	kidney(1)											8.0	11.0	10.0					19																	1881411		1876	3937	5813	SO:0001583	missense	81926			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.155C>A	19.37:g.1881411G>T	ENSP00000292577:p.Pro52His		A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	ENST00000292577.7	37	CCDS45902.1	.	.	.	.	.	.	.	.	.	.	g	11.38	1.620433	0.28801	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.32023	1.47;1.52	3.69	3.69	0.42338	.	0.866127	0.10186	N	0.705218	T	0.42131	0.1189	L	0.46157	1.445	0.09310	N	1	P;P;P;P	0.44195	0.571;0.828;0.474;0.824	B;P;B;P	0.56127	0.264;0.792;0.333;0.621	T	0.18524	-1.0334	10	0.54805	T	0.06	-41.7049	8.6941	0.34284	0.0:0.0:0.7728:0.2272	.	52;52;52;52	Q96GS6;Q96GS6-2;Q96GS6-3;Q96GS6-4	F18A1_HUMAN;.;.;.	H	52	ENSP00000250974:P52H;ENSP00000292577:P52H	ENSP00000250974:P52H	P	-	2	0	FAM108A1	1832411	0.001000	0.12720	0.213000	0.23690	0.176000	0.22953	1.102000	0.31050	2.071000	0.62044	0.561000	0.74099	CCC		0.746	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2		NM_031213	
FAT4	79633	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	126389800	126389801	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr4:126389800_126389801GC>CA	ENST00000394329.3	+	11	12046_12047	c.12033_12034GC>CA	c.(12031-12036)ttGCtt>ttCAtt	p.4011_4012LL>FI	FAT4_ENST00000335110.5_Missense_Mutation_p.2274_2275LL>FI	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4011	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L4011>?(1)|p.L4011F(1)|p.L3977I(1)|p.L3976F(1)|p.L4012I(1)|p.L3976>?(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGCCTTATTGCTTTACAACTA	0.391																																																	6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	Exception_encountered	4.37:g.126389800_126389801delinsCA	ENSP00000377862:p.L4011_L4012delinsFI		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.391	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582	
FBXO38	81545	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	147781573	147781573	+	Silent	SNP	A	A	G			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr5:147781573A>G	ENST00000340253.5	+	4	459	c.291A>G	c.(289-291)ctA>ctG	p.L97L	FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000296701.6_Silent_p.L97L|FBXO38_ENST00000513826.1_Silent_p.L97L|FBXO38_ENST00000394370.3_Silent_p.L97L			Q6PIJ6	FBX38_HUMAN	F-box protein 38	97	Interaction with KLF7. {ECO:0000250}.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L97L(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTAACACTATTAAAGAAGA	0.428																																																	1	Substitution - coding silent(1)	kidney(1)											104.0	104.0	104.0					5																	147781573		2203	4299	6502	SO:0001819	synonymous_variant	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.291A>G	5.37:g.147781573A>G			Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Silent	SNP	ENST00000340253.5	37																																																																																					0.428	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2		NM_030793	
HAGH	3029	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1866929	1866929	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr16:1866929T>C	ENST00000397356.3	-	7	1118	c.712A>G	c.(712-714)Aat>Gat	p.N238D	HAGH_ENST00000397353.2_Missense_Mutation_p.N190D|HAGH_ENST00000566709.1_Missense_Mutation_p.N190D|HAGH_ENST00000455446.2_Silent_p.A201A	NM_005326.4	NP_005317.2	Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	238					glutathione biosynthetic process (GO:0006750)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxyacylglutathione hydrolase activity (GO:0004416)|zinc ion binding (GO:0008270)	p.N190D(1)		kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	ATGGCGGCATTGCCGGGCTCC	0.642																																					Pancreas(55;1048 1176 25227 40124 41333)												1	Substitution - Missense(1)	kidney(1)											89.0	75.0	80.0					16																	1866929		2199	4300	6499	SO:0001583	missense	3029			X90999	CCDS32366.1, CCDS10447.2, CCDS66900.1	16p13.3	2012-10-02	2003-11-04		ENSG00000063854	ENSG00000063854	3.1.2.6		4805	protein-coding gene	gene with protein product		138760	"""hydroxyacyl glutathione hydrolase"""			3025077, 7327557	Standard	NM_001286249		Approved	GLO2, GLXII, HAGH1	uc002cna.3	Q16775	OTTHUMG00000128662	ENST00000397356.3:c.712A>G	16.37:g.1866929T>C	ENSP00000380514:p.Asn238Asp		A8K290|B4DP33|B4DRA7|E7EN93	Missense_Mutation	SNP	ENST00000397356.3	37	CCDS10447.2	.	.	.	.	.	.	.	.	.	.	T	19.00	3.741653	0.69304	.	.	ENSG00000063854	ENST00000397356;ENST00000397353	D;D	0.95788	-3.81;-3.81	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.97651	0.9230	M	0.85373	2.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.989	D	0.98440	1.0586	10	0.87932	D	0	.	13.849	0.63485	0.0:0.0:0.0:1.0	.	190;238	Q16775-2;Q16775	.;GLO2_HUMAN	D	238;190	ENSP00000380514:N238D;ENSP00000380511:N190D	ENSP00000380511:N190D	N	-	1	0	HAGH	1806930	1.000000	0.71417	0.095000	0.20976	0.315000	0.28087	7.603000	0.82811	1.876000	0.54355	0.533000	0.62120	AAT		0.642	HAGH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250548.2		NM_005326	
HECW1	23072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	43400541	43400541	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr7:43400541A>T	ENST00000395891.2	+	6	1122	c.517A>T	c.(517-519)Acc>Tcc	p.T173S	HECW1_ENST00000453890.1_Missense_Mutation_p.T173S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	173					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.T152S(1)|p.T173S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCTGCGAGCAACCACCCCCAG	0.458																																																	2	Substitution - Missense(2)	kidney(2)											104.0	109.0	108.0					7																	43400541		1960	4126	6086	SO:0001583	missense	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.517A>T	7.37:g.43400541A>T	ENSP00000379228:p.Thr173Ser		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	A	23.8	4.463517	0.84425	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.36878	1.28;1.23	5.44	5.44	0.79542	.	0.329226	0.21438	U	0.074523	T	0.59266	0.2181	M	0.71581	2.175	0.50632	D	0.999889	D;P;D	0.69078	0.997;0.904;0.997	D;P;D	0.75020	0.985;0.86;0.985	T	0.62676	-0.6804	10	0.72032	D	0.01	.	14.479	0.67567	1.0:0.0:0.0:0.0	.	173;205;173	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	S	173;173;172	ENSP00000379228:T173S;ENSP00000407774:T173S	ENSP00000265522:T172S	T	+	1	0	HECW1	43367066	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.455000	0.73497	2.063000	0.61619	0.533000	0.62120	ACC		0.458	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2		NM_015052	
IFNA5	3442	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	21304871	21304871	+	Missense_Mutation	SNP	C	C	G	rs370988896		TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr9:21304871C>G	ENST00000259555.4	-	1	441	c.385G>C	c.(385-387)Gtg>Ctg	p.V129L		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	129					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.V129L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GTGTCTTCCACTCCAACCTCC	0.443																																																	1	Substitution - Missense(1)	kidney(1)											153.0	152.0	152.0					9																	21304871		2203	4300	6503	SO:0001583	missense	3442				CCDS6502.1	9p22	2010-08-24			ENSG00000147873	ENSG00000147873		"""Interferons"""	5426	protein-coding gene	gene with protein product		147565				1385305	Standard	NM_002169		Approved	IFN-alphaG	uc011lnh.2	P01569	OTTHUMG00000019664	ENST00000259555.4:c.385G>C	9.37:g.21304871C>G	ENSP00000259555:p.Val129Leu		Q52LX3	Missense_Mutation	SNP	ENST00000259555.4	37	CCDS6502.1	.	.	.	.	.	.	.	.	.	.	C	5.799	0.331655	0.10956	.	.	ENSG00000147873	ENST00000259555	T	0.03301	3.98	4.16	-5.83	0.02325	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.718250	0.02674	N	0.108958	T	0.03608	0.0103	L	0.45470	1.425	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.43750	-0.9372	10	0.26408	T	0.33	.	3.9098	0.09197	0.1268:0.1866:0.5017:0.1849	.	129	P01569	IFNA5_HUMAN	L	129	ENSP00000259555:V129L	ENSP00000259555:V129L	V	-	1	0	IFNA5	21294871	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.778000	0.00775	-0.627000	0.05589	-0.311000	0.09066	GTG		0.443	IFNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051893.1		NM_002169	
KLF8	11279	broad.mit.edu	37	X	56291625	56291625	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chrX:56291625G>T	ENST00000468660.1	+	3	382	c.94G>T	c.(94-96)Gtt>Ttt	p.V32F	KLF8_ENST00000374928.3_Missense_Mutation_p.V32F	NM_007250.4	NP_009181.2	O95600	KLF8_HUMAN	Kruppel-like factor 8	32					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.V32F(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CACTGCTTCTGTTCGGAACAG	0.398																																																	1	Substitution - Missense(1)	kidney(1)											30.0	26.0	28.0					X																	56291625		2203	4300	6503	SO:0001583	missense	11279			U28282	CCDS14373.1, CCDS55428.1	Xp11.21	2013-01-08			ENSG00000102349	ENSG00000102349		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	6351	protein-coding gene	gene with protein product		300286					Standard	NM_007250		Approved	BKLF3, ZNF741, DXS741	uc004dur.3	O95600	OTTHUMG00000021666	ENST00000468660.1:c.94G>T	X.37:g.56291625G>T	ENSP00000417303:p.Val32Phe		B4DJN3|E7EQQ8|L0R3U8|L0R4U2|Q2M246|Q59GV5|Q5HYQ5|Q5JXP7|Q6MZJ7|Q9UGC4	Missense_Mutation	SNP	ENST00000468660.1	37	CCDS14373.1	.	.	.	.	.	.	.	.	.	.	G	9.751	1.167453	0.21621	.	.	ENSG00000102349	ENST00000374928;ENST00000468660	T	0.08282	3.11	4.47	1.67	0.24075	.	0.265226	0.26394	N	0.024637	T	0.09247	0.0228	L	0.27053	0.805	0.09310	N	0.999993	P;P;P	0.51351	0.9;0.944;0.622	P;P;B	0.53722	0.553;0.733;0.119	T	0.14643	-1.0465	10	0.87932	D	0	.	4.4479	0.11606	0.3093:0.1645:0.5262:0.0	.	32;32;32	E7EQQ8;B4DJN3;O95600	.;.;KLF8_HUMAN	F	32	ENSP00000417303:V32F	ENSP00000431911:V32F	V	+	1	0	KLF8	56308350	0.016000	0.18221	0.087000	0.20705	0.016000	0.09150	0.387000	0.20718	0.098000	0.17522	0.594000	0.82650	GTT		0.398	KLF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056887.2		NM_007250	
LCE1F	353137	hgsc.bcm.edu	37	1	152749037	152749042	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs202038292|rs200171226|rs149277953	byFrequency	TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	GGTGGT	GGTGGT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr1:152749037_152749042delGGTGGT	ENST00000334371.2	+	1	190_195	c.190_195delGGTGGT	c.(190-195)ggtggtdel	p.GG64del		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	64	Poly-Gly.				keratinization (GO:0031424)			p.G64_G65delGG(1)		kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCTGGGGGTGGTGGCTGCTGCA	0.675														356	0.0710863	0.0136	0.0663	5008	,	,		14489	0.0923		0.1034	False		,,,				2504	0.0971																1	Deletion - In frame(1)	stomach(1)								106,4154		4,98,2028						-1.6	0.0		dbSNP_134	9	754,7496		7,740,3378	no	coding	LCE1F	NM_178354.2		11,838,5406	A1A1,A1R,RR		9.1394,2.4883,6.8745				860,11650				SO:0001651	inframe_deletion	353137				CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.190_195delGGTGGT	1.37:g.152749037_152749042delGGTGGT	ENSP00000334187:p.Gly64_Gly65del			In_Frame_Del	DEL	ENST00000334371.2	37	CCDS1023.1																																																																																				0.675	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2		NM_178354	
LCP1	3936	hgsc.bcm.edu	37	13	46717458	46717459	+	Frame_Shift_Ins	INS	-	-	G	rs143399162|rs199851535		TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr13:46717458_46717459insG	ENST00000398576.2	-	15	1722_1723	c.1334_1335insC	c.(1333-1335)ccgfs	p.P445fs	LCP1_ENST00000323076.2_Frame_Shift_Ins_p.P445fs|LCP1_ENST00000435666.2_5'Flank			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	445	Actin-binding 2.|CH 3. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGGGGTATGGCGGTTTGTTTAC	0.426			T	BCL6	NHL																																			Dom	yes		13	13q14.1-q14.3	3936	lymphocyte cytosolic protein 1 (L-plastin)		L	0																																										SO:0001589	frameshift_variant	3936			M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.1335dupC	13.37:g.46717460_46717460dupG	ENSP00000381581:p.Pro445fs		B2R613|B4DUA0|Q5TBN4	Frame_Shift_Ins	INS	ENST00000398576.2	37	CCDS9403.1																																																																																				0.426	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3		NM_002298	
LOC441666	441666	broad.mit.edu	37	10	42832499	42832499	+	RNA	SNP	C	C	G	rs368323025		TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr10:42832499C>G	ENST00000609841.1	-	0	1404					NR_024380.1																						TCTCCCCTATCAATTATGTTT	0.363																																																	0																																												441666																															10.37:g.42832499C>G				RNA	SNP	ENST00000609841.1	37																																																																																					0.363	RP11-313J2.1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472483.1			
LOXL4	84171	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	100015482	100015482	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr10:100015482C>G	ENST00000260702.3	-	10	1593	c.1443G>C	c.(1441-1443)tgG>tgC	p.W481C	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	481	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|receptor complex (GO:0043235)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)	p.W481C(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCGTCCCCGACCAGAACCAGG	0.632																																																	1	Substitution - Missense(1)	kidney(1)											60.0	53.0	55.0					10																	100015482		2203	4300	6503	SO:0001583	missense	84171			AF338441	CCDS7473.1	10q24	2008-08-01			ENSG00000138131	ENSG00000138131			17171	protein-coding gene	gene with protein product		607318				11292829	Standard	XM_005270216		Approved	FLJ21889, LOXC	uc001kpa.1	Q96JB6	OTTHUMG00000018874	ENST00000260702.3:c.1443G>C	10.37:g.100015482C>G	ENSP00000260702:p.Trp481Cys		Q5W0B3|Q96DY1|Q96PC0|Q9H6T5	Missense_Mutation	SNP	ENST00000260702.3	37	CCDS7473.1	.	.	.	.	.	.	.	.	.	.	C	15.74	2.922194	0.52653	.	.	ENSG00000138131	ENST00000260702	T	0.28454	1.61	5.25	5.25	0.73442	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.59582	0.2204	M	0.79614	2.46	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64462	-0.6402	10	0.87932	D	0	.	18.8572	0.92257	0.0:1.0:0.0:0.0	.	481	Q96JB6	LOXL4_HUMAN	C	481	ENSP00000260702:W481C	ENSP00000260702:W481C	W	-	3	0	LOXL4	100005472	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	5.920000	0.70017	2.456000	0.83038	0.561000	0.74099	TGG		0.632	LOXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049766.1		NM_032211	
NOXO1	124056	hgsc.bcm.edu	37	16	2031172	2031173	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr16:2031172_2031173insC	ENST00000397280.4	-	1	11_12	c.8_9insG	c.(7-9)ggcfs	p.G3fs	NOXO1_ENST00000566005.1_Frame_Shift_Ins_p.G3fs|TBL3_ENST00000568546.1_3'UTR|AC005606.1_ENST00000598236.1_5'Flank|NOXO1_ENST00000354249.4_Frame_Shift_Ins_p.G3fs|NOXO1_ENST00000356120.4_Frame_Shift_Ins_p.G3fs			Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	3	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				extracellular matrix disassembly (GO:0022617)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|superoxide metabolic process (GO:0006801)	NADPH oxidase complex (GO:0043020)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)|phospholipid binding (GO:0005543)|superoxide-generating NADPH oxidase activator activity (GO:0016176)			lung(2)	2					Ecabet(DB05265)	GGTATCGGGGGCCTGCCATGGC	0.614																																					Pancreas(104;2811 2841 4129)|Esophageal Squamous(25;910 1225 43728)												0																																										SO:0001589	frameshift_variant	124056			AF532985	CCDS10454.1, CCDS10455.1, CCDS42101.1, CCDS58406.1	16p13.3	2008-02-05			ENSG00000196408	ENSG00000196408			19404	protein-coding gene	gene with protein product		611256					Standard	NM_144603		Approved	P41NOXA, P41NOXB, P41NOXC, SH3PXD5, SNX28	uc002cnx.4	Q8NFA2	OTTHUMG00000128707	ENST00000397280.4:c.9dupG	16.37:g.2031174_2031174dupC	ENSP00000380450:p.Gly3fs		Q86YM1|Q8NFA3|Q96B73	Frame_Shift_Ins	INS	ENST00000397280.4	37	CCDS42101.1																																																																																				0.614	NOXO1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250612.1			
PLEKHG1	57480	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	151153138	151153138	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr6:151153138T>C	ENST00000358517.2	+	15	3102	c.2891T>C	c.(2890-2892)cTg>cCg	p.L964P	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.L964P			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	964							Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L964P(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AACCCTGACCTGGGGATGGAG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											124.0	138.0	133.0					6																	151153138		2203	4300	6503	SO:0001583	missense	57480			AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.2891T>C	6.37:g.151153138T>C	ENSP00000351318:p.Leu964Pro		Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	37	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	T	0.069	-1.205543	0.01568	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.25579	1.79;1.79	5.57	1.65	0.23941	.	0.739096	0.13812	N	0.361041	T	0.01454	0.0047	N	0.00246	-1.78	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.46871	-0.9160	10	0.29301	T	0.29	.	4.9102	0.13818	0.1625:0.4594:0.0:0.3781	.	771;964;964	Q5EBL9;Q5JYA6;Q9ULL1	.;.;PKHG1_HUMAN	P	964	ENSP00000356297:L964P;ENSP00000351318:L964P	ENSP00000351318:L964P	L	+	2	0	PLEKHG1	151194831	0.000000	0.05858	0.001000	0.08648	0.819000	0.46315	0.493000	0.22451	0.318000	0.23185	-0.959000	0.02639	CTG		0.483	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1			
PLEKHH2	130271	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	43924441	43924441	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr2:43924441A>C	ENST00000282406.4	+	7	744	c.634A>C	c.(634-636)Atg>Ctg	p.M212L		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	212					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)	p.M212L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				ATCTGAGGAAATGAGCAAGAT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											98.0	96.0	96.0					2																	43924441		2203	4300	6503	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.634A>C	2.37:g.43924441A>C	ENSP00000282406:p.Met212Leu		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	4.669	0.124386	0.08931	.	.	ENSG00000152527	ENST00000282406	T	0.10192	2.9	5.14	0.153	0.14897	.	1.026730	0.07652	N	0.932159	T	0.05868	0.0153	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45991	-0.9223	10	0.17369	T	0.5	0.1672	6.5296	0.22320	0.4911:0.1316:0.3773:0.0	.	212;212	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	L	212	ENSP00000282406:M212L	ENSP00000282406:M212L	M	+	1	0	PLEKHH2	43777945	0.014000	0.17966	0.197000	0.23402	0.890000	0.51754	0.150000	0.16263	0.028000	0.15324	0.528000	0.53228	ATG		0.408	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069	
PRODH2	58510	broad.mit.edu	37	19	36304176	36304176	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr19:36304176G>T	ENST00000301175.3	-	1	25	c.8C>A	c.(7-9)cCc>cAc	p.P3H		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	3					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)	p.P3H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			gactaccctgggcgacatagt	0.463																																																	1	Substitution - Missense(1)	kidney(1)											38.0	34.0	35.0					19																	36304176		2196	4288	6484	SO:0001583	missense	58510			U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.8C>A	19.37:g.36304176G>T	ENSP00000301175:p.Pro3His			Missense_Mutation	SNP	ENST00000301175.3	37	CCDS12478.1	.	.	.	.	.	.	.	.	.	.	G	3.455	-0.111270	0.06881	.	.	ENSG00000250799	ENST00000301175	T	0.07327	3.2	0.36	-0.721	0.11189	.	.	.	.	.	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	P	0.48834	0.916	B	0.28553	0.091	T	0.42032	-0.9475	8	0.87932	D	0	.	.	.	.	.	3	Q9UF12	PROD2_HUMAN	H	3	ENSP00000301175:P3H	ENSP00000301175:P3H	P	-	2	0	PRODH2	40996016	.	.	0.001000	0.08648	0.001000	0.01503	.	.	-0.387000	0.07809	-0.385000	0.06624	CCC		0.463	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2		NM_021232	
RALGAPA1	253959	broad.mit.edu;hgsc.bcm.edu	37	14	36133906	36133906	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr14:36133906A>G	ENST00000389698.3	-	26	4142	c.3752T>C	c.(3751-3753)cTg>cCg	p.L1251P	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.L1264P|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.L1251P|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.L1298P	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1251					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L1251P(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGAGAAGGCAGTTCACAATA	0.338																																																	2	Substitution - Missense(2)	kidney(2)											68.0	68.0	68.0					14																	36133906		2203	4297	6500	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3752T>C	14.37:g.36133906A>G	ENSP00000374348:p.Leu1251Pro		A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.447287	0.84101	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.83	5.83	0.93111	.	0.065893	0.64402	D	0.000009	T	0.81564	0.4849	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;0.997	D;D;D;D	0.91635	0.999;0.963;0.988;0.921	T	0.83076	-0.0140	10	0.72032	D	0.01	-5.4169	16.2005	0.82071	1.0:0.0:0.0:0.0	.	1298;1264;1251;1251	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	P	1251;1251;1251;1298;1264;1298	ENSP00000374348:L1251P;ENSP00000302647:L1251P;ENSP00000258840:L1298P;ENSP00000371803:L1264P;ENSP00000451877:L1298P	ENSP00000258840:L1298P	L	-	2	0	RALGAPA1	35203657	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.108000	0.94275	2.231000	0.72958	0.455000	0.32223	CTG		0.338	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022	
RASSF6	166824	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	74459276	74459276	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr4:74459276A>C	ENST00000342081.3	-	4	405	c.275T>G	c.(274-276)cTg>cGg	p.L92R	RASSF6_ENST00000395777.2_Missense_Mutation_p.L60R|RASSF6_ENST00000335049.5_Missense_Mutation_p.L48R|RASSF6_ENST00000307439.5_Missense_Mutation_p.L60R	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	92					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)			p.L60R(1)|p.L92R(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAAAATGTCCAGCATTCCTTC	0.353																																																	2	Substitution - Missense(2)	kidney(2)											109.0	111.0	110.0					4																	74459276		2203	4300	6503	SO:0001583	missense	166824			AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.275T>G	4.37:g.74459276A>C	ENSP00000340578:p.Leu92Arg		Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Missense_Mutation	SNP	ENST00000342081.3	37	CCDS3558.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863396	0.71949	.	.	ENSG00000169435	ENST00000307439;ENST00000342081;ENST00000395777;ENST00000335049	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.42	5.42	0.78866	.	0.082163	0.53938	D	0.000050	T	0.72366	0.3451	M	0.80847	2.515	0.46478	D	0.999067	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.76512	-0.2932	10	0.87932	D	0	-9.9148	11.8484	0.52397	1.0:0.0:0.0:0.0	.	48;60;92	Q6ZTQ3-3;Q6ZTQ3-4;Q6ZTQ3	.;.;RASF6_HUMAN	R	60;92;60;48	ENSP00000303877:L60R;ENSP00000340578:L92R;ENSP00000379123:L60R;ENSP00000335582:L48R	ENSP00000303877:L60R	L	-	2	0	RASSF6	74678140	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.908000	0.69916	2.071000	0.62044	0.443000	0.29094	CTG		0.353	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1		NM_177532	
ROCK2	9475	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11361380	11361380	+	Silent	SNP	T	T	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr2:11361380T>C	ENST00000315872.6	-	9	1651	c.1203A>G	c.(1201-1203)aaA>aaG	p.K401K	ROCK2_ENST00000401753.1_Silent_p.K158K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	401	AGC-kinase C-terminal.|Interaction with NPM1.|Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)	p.K401K(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAACAAAAGCTTTAGGAATTG	0.358																																																	2	Substitution - coding silent(2)	kidney(2)											134.0	132.0	132.0					2																	11361380		1851	4097	5948	SO:0001819	synonymous_variant	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1203A>G	2.37:g.11361380T>C			Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	37	CCDS42654.1																																																																																				0.358	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			
RPL30	6156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	99054939	99054939	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr8:99054939T>C	ENST00000521291.1	-	3	378	c.232A>G	c.(232-234)Aat>Gat	p.N78D	SNORA72_ENST00000384339.1_RNA|RPL30_ENST00000523172.1_Missense_Mutation_p.N14D|RPL30_ENST00000287038.3_Missense_Mutation_p.N78D|RPL30_ENST00000518164.1_Intron|RPL30_ENST00000396070.2_Missense_Mutation_p.N59D|KB-1208A12.3_ENST00000501016.2_RNA			P62888	RL30_HUMAN	ribosomal protein L30	78					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.N78D(1)		kidney(2)|lung(4)|skin(1)	7	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.192)			AGTTCAATATTATTGCCACTG	0.368																																																	1	Substitution - Missense(1)	kidney(1)											114.0	102.0	106.0					8																	99054939		2203	4300	6503	SO:0001583	missense	6156				CCDS34928.1	8q22	2013-05-09			ENSG00000156482	ENSG00000156482		"""L ribosomal proteins"""	10333	protein-coding gene	gene with protein product		180467				1577483	Standard	NM_000989		Approved	L30	uc003yif.3	P62888	OTTHUMG00000164796	ENST00000521291.1:c.232A>G	8.37:g.99054939T>C	ENSP00000428085:p.Asn78Asp		B2R591|P04645|Q502Z6	Missense_Mutation	SNP	ENST00000521291.1	37	CCDS34928.1	.	.	.	.	.	.	.	.	.	.	T	26.0	4.698878	0.88830	.	.	ENSG00000156482	ENST00000521291;ENST00000396070;ENST00000287038;ENST00000523172;ENST00000521726	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	4.94	4.94	0.65067	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	D	0.82305	0.5008	H	0.99225	4.475	0.80722	D	1	P	0.36837	0.571	P	0.49387	0.609	D	0.87534	0.2454	10	0.87932	D	0	-7.257	13.4746	0.61301	0.0:0.0:0.0:1.0	.	78	P62888	RL30_HUMAN	D	78;59;78;14;78	ENSP00000428085:N78D;ENSP00000287038:N78D;ENSP00000430506:N14D;ENSP00000429483:N78D	ENSP00000287038:N78D	N	-	1	0	RPL30	99124115	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.831000	0.86748	1.982000	0.57802	0.533000	0.62120	AAT		0.368	RPL30-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380450.1			
ZBED9	114821	broad.mit.edu;ucsc.edu	37	6	28542935	28542935	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr6:28542935T>A	ENST00000452236.2	-	3	2164	c.1547A>T	c.(1546-1548)cAg>cTg	p.Q516L	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1												p.Q516L(1)		NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ACATGGAGTCTGTTGCATGCT	0.418																																																	1	Substitution - Missense(1)	kidney(1)											134.0	131.0	132.0					6																	28542935		2203	4300	6503	SO:0001583	missense	114821																														ENST00000452236.2:c.1547A>T	6.37:g.28542935T>A	ENSP00000395259:p.Gln516Leu			Missense_Mutation	SNP	ENST00000452236.2	37	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	T	12.34	1.907746	0.33721	.	.	ENSG00000232040	ENST00000452236	T	0.38401	1.14	3.41	3.41	0.39046	Integrase, catalytic core (1);Ribonuclease H-like (1);	.	.	.	.	T	0.25717	0.0626	M	0.64997	1.995	0.27728	N	0.944898	D	0.53885	0.963	P	0.47402	0.546	T	0.06445	-1.0826	9	0.72032	D	0.01	.	8.4296	0.32750	0.0:0.0:0.0:1.0	.	516	Q6R2W3	SCND3_HUMAN	L	516	ENSP00000395259:Q516L	ENSP00000395259:Q516L	Q	-	2	0	SCAND3	28650914	0.001000	0.12720	0.958000	0.39756	0.569000	0.35902	0.186000	0.16978	1.558000	0.49541	0.460000	0.39030	CAG		0.418	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			
SLC29A3	55315	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	73111405	73111405	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr10:73111405C>G	ENST00000373189.5	+	4	522	c.470C>G	c.(469-471)aCt>aGt	p.T157S		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	157					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)	p.T157S(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						AAGGTGGACACTTCCTCCTGG	0.577																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)												1	Substitution - Missense(1)	kidney(1)											221.0	162.0	182.0					10																	73111405		2203	4300	6503	SO:0001583	missense	55315			AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.470C>G	10.37:g.73111405C>G	ENSP00000362285:p.Thr157Ser		B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926792	0.73327	.	.	ENSG00000198246	ENST00000373189	T	0.58358	0.34	5.53	4.6	0.57074	.	0.232262	0.45867	D	0.000337	T	0.49440	0.1557	L	0.56280	1.765	0.41341	D	0.987304	P	0.34462	0.454	B	0.37601	0.254	T	0.57435	-0.7812	9	0.21014	T	0.42	-44.3286	14.1649	0.65471	0.15:0.8499:0.0:0.0	.	157	Q9BZD2	S29A3_HUMAN	S	157	ENSP00000362285:T157S	ENSP00000362285:T157S	T	+	2	0	SLC29A3	72781411	1.000000	0.71417	0.975000	0.42487	0.852000	0.48524	3.688000	0.54699	1.430000	0.47334	0.555000	0.69702	ACT		0.577	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1		NM_018344	
SLCO1B1	10599	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	21353532	21353532	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr12:21353532G>A	ENST00000256958.2	+	9	1157	c.1061G>A	c.(1060-1062)gGt>gAt	p.G354D		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	354					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G354D(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	AGCTATATTGGTGCTTTTACT	0.348																																																	1	Substitution - Missense(1)	kidney(1)											114.0	105.0	108.0					12																	21353532		2202	4298	6500	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1061G>A	12.37:g.21353532G>A	ENSP00000256958:p.Gly354Asp		B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	ENST00000256958.2	37	CCDS8685.1	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632357	0.46944	.	.	ENSG00000134538	ENST00000256958	T	0.61859	0.07	3.34	3.34	0.38264	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.053610	0.85682	D	0.000000	T	0.80396	0.4615	H	0.94222	3.51	0.36769	D	0.883675	D	0.62365	0.991	D	0.72625	0.978	D	0.87724	0.2575	10	0.87932	D	0	.	12.0129	0.53297	0.0:0.0:1.0:0.0	.	354	Q9Y6L6	SO1B1_HUMAN	D	354	ENSP00000256958:G354D	ENSP00000256958:G354D	G	+	2	0	SLCO1B1	21244799	1.000000	0.71417	0.313000	0.25210	0.079000	0.17450	3.995000	0.57001	1.846000	0.53633	0.491000	0.48974	GGT		0.348	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402070.1		NM_006446	
SSPO	23145	broad.mit.edu	37	7	149515189	149515189	+	RNA	DEL	A	A	-	rs60594151	byFrequency	TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr7:149515189delA	ENST00000378016.2	+	0	11577							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCTCGAGTAACTGCCCCAG	0.667													A|AA|A|insertion	1839	0.367212	0.4402	0.3473	5008	,	,		16407	0.4206		0.2942	False		,,,				2504	0.3027																0										1497,2307		384,729,789	5.0	7.0	6.0			1.8	0.2	7	dbSNP_132	8	2537,5339		482,1573,1883	no	frameshift	SSPO	NM_198455.2		866,2302,2672	A1A1,A1R,RR		32.2118,39.3533,34.5377			149515189	4034,7646	1638	3723	5361			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149515189delA			Q76B61	Splice_Site	DEL	ENST00000378016.2	37																																																																																					0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				
VHL	7428	hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	A	rs5030807		TCGA-BP-5008-01A-01D-1392-10	TCGA-BP-5008-11A-01D-1392-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	70d9fb04-75b3-445f-8c8a-0004211428e3	053cd8bf-5805-41a8-ac61-78e77051a4d6	g.chr3:10183797T>A	ENST00000256474.2	+	1	1106	c.266T>A	c.(265-267)cTc>cAc	p.L89H	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.L89H	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13.0	16.0	15.0					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>A	3.37:g.10183797T>A	ENSP00000256474:p.Leu89His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986585	0.93106	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99576	0.9847	L	0.41492	1.28	0.33129	D	0.542832	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.957	D	0.97755	1.0217	10	0.87932	D	0	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	.	89;89	P40337-2;P40337	.;VHL_HUMAN	H	89	ENSP00000256474:L89H;ENSP00000344757:L89H	ENSP00000256474:L89H	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZNF862	643641	broad.mit.edu	37	7	149544912	149544912	+	Silent	SNP	C	C	A			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr7:149544912C>A	ENST00000223210.4	+	4	575	c.330C>A	c.(328-330)gcC>gcA	p.A110A		NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	110					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.A110A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AGAAGAAAGCCTACCTTTCCC	0.542																																																	1	Substitution - coding silent(1)	kidney(1)											43.0	46.0	45.0					7																	149544912		1953	4139	6092	SO:0001819	synonymous_variant	643641			AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.330C>A	7.37:g.149544912C>A			A0AUL8	Silent	SNP	ENST00000223210.4	37	CCDS47741.1																																																																																				0.542	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1		NM_001099220	
KAT6B	23522	broad.mit.edu	37	10	76789332	76789332	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5008-01A-01D-1462-08	TCGA-BP-5008-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	a945d50e-a61d-46e3-ade6-c295a5ecf54a	d5e54023-831c-486a-9e5a-57dd34c6ebb0	g.chr10:76789332A>T	ENST00000287239.4	+	18	5239	c.4750A>T	c.(4750-4752)Att>Ttt	p.I1584F	KAT6B_ENST00000372725.1_Missense_Mutation_p.I1292F|KAT6B_ENST00000372724.1_Missense_Mutation_p.I1292F|KAT6B_ENST00000372711.1_Missense_Mutation_p.I1401F|KAT6B_ENST00000372714.1_Missense_Mutation_p.I1292F	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1584	Interaction with RUNX1 and RUNX2.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I1584F(1)									AAGTCCACAGATTGCCACCAC	0.567																																						.											1	Substitution - Missense(1)	kidney(1)											119.0	110.0	113.0					10																	76789332		2203	4300	6503	SO:0001583	missense	0			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4750A>T	10.37:g.76789332A>T	ENSP00000287239:p.Ile1584Phe		O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	6.115	0.389534	0.11581	.	.	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78364	-1.16;-1.16;-1.17;-1.16;-1.16	4.77	3.63	0.41609	.	0.000000	0.50627	D	0.000110	T	0.79323	0.4426	L	0.40543	1.245	0.42164	D	0.991614	P;D;B	0.53462	0.902;0.96;0.417	P;D;B	0.66979	0.602;0.948;0.15	T	0.76252	-0.3027	10	0.44086	T	0.13	-1.9108	6.4274	0.21778	0.7613:0.1574:0.0813:0.0	.	1401;1292;1584	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	F	1292;1292;1584;1292;1401	ENSP00000361810:I1292F;ENSP00000361809:I1292F;ENSP00000287239:I1584F;ENSP00000361799:I1292F;ENSP00000361796:I1401F	ENSP00000287239:I1584F	I	+	1	0	KAT6B	76459338	1.000000	0.71417	0.573000	0.28510	0.309000	0.27889	2.818000	0.48041	0.681000	0.31386	-0.371000	0.07208	ATT		0.567	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1		NM_012330	
