#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ACVR1B	91	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	52374764	52374764	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr12:52374764T>G	ENST00000257963.4	+	4	669	c.592T>G	c.(592-594)Ttt>Gtt	p.F198V	ACVR1B_ENST00000415850.2_Missense_Mutation_p.F198V|ACVR1B_ENST00000541224.1_Missense_Mutation_p.F198V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.F198V|ACVR1B_ENST00000542485.1_Missense_Mutation_p.F146V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	198	GS. {ECO:0000255|PROSITE- ProRule:PRU00585}.				activin receptor signaling pathway (GO:0032924)|central nervous system development (GO:0007417)|development of primary female sexual characteristics (GO:0046545)|extrinsic apoptotic signaling pathway (GO:0097191)|G1/S transition of mitotic cell cycle (GO:0000082)|hair follicle development (GO:0001942)|in utero embryonic development (GO:0001701)|negative regulation of cell growth (GO:0030308)|nodal signaling pathway (GO:0038092)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of trophoblast cell migration (GO:1901165)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	activin receptor activity, type I (GO:0016361)|ATP binding (GO:0005524)|inhibin binding (GO:0034711)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|ubiquitin protein ligase binding (GO:0031625)	p.F198V(2)		breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GTTACCCCTCTTTGTCCAGCG	0.498											OREG0021829	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	kidney(2)											64.0	59.0	61.0					12																	52374764		2203	4300	6503	SO:0001583	missense	91				CCDS8816.1, CCDS44893.1, CCDS44894.1, CCDS44893.2, CCDS44894.2	12q13	2006-11-09			ENSG00000135503	ENSG00000135503			172	protein-coding gene	gene with protein product		601300		ACVRLK4		8397373	Standard	NM_020327		Approved	ALK4, SKR2, ActRIB	uc010snn.2	P36896	OTTHUMG00000167920	ENST00000257963.4:c.592T>G	12.37:g.52374764T>G	ENSP00000257963:p.Phe198Val	Somatic	984	WXS	Illumina HiSeq	Phase_I	B7Z5L8|B7Z5W5|Q15479|Q15480|Q15481|Q15482	Missense_Mutation	SNP	ENST00000257963.4	37	CCDS8816.1	.	.	.	.	.	.	.	.	.	.	T	14.63	2.592878	0.46214	.	.	ENSG00000135503	ENST00000257963;ENST00000541224;ENST00000426655;ENST00000415850;ENST00000542485	D;D;D;D;D	0.94138	-3.36;-3.36;-3.36;-3.36;-3.36	4.94	4.94	0.65067	Protein kinase-like domain (1);TGF beta receptor, GS motif (3);	0.000000	0.85682	D	0.000000	D	0.91882	0.7430	L	0.44542	1.39	0.58432	D	0.999999	B;B;B;B	0.24721	0.058;0.11;0.049;0.094	B;B;B;B	0.35971	0.064;0.215;0.064;0.113	D	0.90732	0.4643	10	0.87932	D	0	.	14.9281	0.70896	0.0:0.0:0.0:1.0	.	198;198;198;198	P36896-4;P36896;P36896-2;P36896-3	.;ACV1B_HUMAN;.;.	V	198;198;198;198;146	ENSP00000257963:F198V;ENSP00000442656:F198V;ENSP00000390477:F198V;ENSP00000397550:F198V;ENSP00000442885:F146V	ENSP00000257963:F198V	F	+	1	0	ACVR1B	50661031	0.935000	0.31712	0.990000	0.47175	0.925000	0.55904	1.460000	0.35244	1.993000	0.58246	0.528000	0.53228	TTT		0.498	ACVR1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397000.1		NM_020328	
ALDH18A1	5832	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	97373858	97373858	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr10:97373858T>C	ENST00000371224.2	-	14	1803	c.1666A>G	c.(1666-1668)Att>Gtt	p.I556V	ALDH18A1_ENST00000371221.3_Missense_Mutation_p.I554V	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	556	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)	p.I556V(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CCACGTGGAATGATCAGATCT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											204.0	206.0	205.0					10																	97373858		2203	4300	6503	SO:0001583	missense	5832			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1666A>G	10.37:g.97373858T>C	ENSP00000360268:p.Ile556Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Missense_Mutation	SNP	ENST00000371224.2	37	CCDS7443.1	.	.	.	.	.	.	.	.	.	.	T	19.94	3.920533	0.73213	.	.	ENSG00000059573	ENST00000371224;ENST00000371221	T;T	0.75589	-0.95;-0.95	5.5	5.5	0.81552	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Gamma-glutamyl phosphate reductase GPR (1);	0.000000	0.85682	D	0.000000	T	0.79724	0.4495	M	0.80332	2.49	0.80722	D	1	B;B	0.30542	0.284;0.241	B;B	0.39617	0.305;0.145	T	0.80770	-0.1234	10	0.66056	D	0.02	-13.8342	13.5609	0.61788	0.0:0.0:0.0:1.0	.	556;554	P54886;P54886-2	P5CS_HUMAN;.	V	556;554	ENSP00000360268:I556V;ENSP00000360265:I554V	ENSP00000360265:I554V	I	-	1	0	ALDH18A1	97363848	1.000000	0.71417	0.996000	0.52242	0.906000	0.53458	7.506000	0.81665	2.092000	0.63282	0.533000	0.62120	ATT		0.448	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049552.1		NM_002860	
ANAPC1	64682	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	112625654	112625654	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:112625654A>C	ENST00000341068.3	-	7	1403	c.631T>G	c.(631-633)Ttc>Gtc	p.F211V		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	211					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.F211V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGCATGCTGAACATAGTAGGT	0.308																																																	1	Substitution - Missense(1)	kidney(1)											68.0	72.0	71.0					2																	112625654		2203	4300	6503	SO:0001583	missense	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.631T>G	2.37:g.112625654A>C	ENSP00000339109:p.Phe211Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.289840	0.80914	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.32	4.32	0.51571	.	0.000000	0.47455	U	0.000228	T	0.77968	0.4210	M	0.83118	2.625	0.80722	D	1	D	0.63046	0.992	D	0.64687	0.928	T	0.80044	-0.1547	9	0.44086	T	0.13	-24.2677	13.9236	0.63948	1.0:0.0:0.0:0.0	.	211	Q9H1A4	APC1_HUMAN	V	211	.	ENSP00000339109:F211V	F	-	1	0	ANAPC1	112342125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.848000	0.86902	1.927000	0.55829	0.455000	0.32223	TTC		0.308	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2		NM_022662	
ANKRD17	26057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	73985963	73985963	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr4:73985963G>T	ENST00000358602.4	-	21	4057	c.3941C>A	c.(3940-3942)cCt>cAt	p.P1314H	ANKRD17_ENST00000514252.1_5'UTR|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1201H|ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1063H	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1314					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.P1314H(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGAACTGGAGGGGCATTAAC	0.453																																																	1	Substitution - Missense(1)	kidney(1)											159.0	144.0	149.0					4																	73985963		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3941C>A	4.37:g.73985963G>T	ENSP00000351416:p.Pro1314His	Somatic		WXS	Illumina HiSeq	Phase_I	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913656	0.92178	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.68624	-0.34;-0.3;-0.31	5.68	5.68	0.88126	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000003	T	0.76328	0.3972	L	0.31845	0.965	0.58432	D	0.99999	D;D;D;D;D	0.89917	0.99;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.95;0.98;0.98;0.989;1.0	T	0.78142	-0.2319	10	0.87932	D	0	.	19.7934	0.96469	0.0:0.0:1.0:0.0	.	835;1313;1063;1314;1201	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	H	1314;1063;1201	ENSP00000351416:P1314H;ENSP00000332265:P1063H;ENSP00000427151:P1201H	ENSP00000332265:P1063H	P	-	2	0	ANKRD17	74204827	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.678000	0.91216	0.585000	0.79938	CCT		0.453	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1		NM_032217	
ANKRD55	79722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	55412459	55412459	+	Silent	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr5:55412459G>T	ENST00000341048.4	-	9	1099	c.948C>A	c.(946-948)ctC>ctA	p.L316L	ANKRD55_ENST00000434982.2_Silent_p.L28L|ANKRD55_ENST00000504958.2_Silent_p.L273L|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	316								p.L316L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTTGGGAGAGGAGTTTGACAC	0.473																																																	1	Substitution - coding silent(1)	kidney(1)											101.0	108.0	105.0					5																	55412459		2203	4300	6503	SO:0001819	synonymous_variant	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.948C>A	5.37:g.55412459G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	CCDS34161.1																																																																																				0.473	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4		NM_024669	
ARHGAP20	57569	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	110451792	110451792	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr11:110451792G>T	ENST00000260283.4	-	16	2162	c.1878C>A	c.(1876-1878)gaC>gaA	p.D626E	ARHGAP20_ENST00000529591.1_Missense_Mutation_p.D169E|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.D600E|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.D590E|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.D600E|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.D590E|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.D603E	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	626					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)	p.D626E(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CCTCGGGCTGGTCAAGATCAT	0.483																																																	1	Substitution - Missense(1)	kidney(1)											100.0	94.0	96.0					11																	110451792		2201	4298	6499	SO:0001583	missense	57569			AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.1878C>A	11.37:g.110451792G>T	ENSP00000260283:p.Asp626Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	G	2.338	-0.351838	0.05173	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.08102	3.13;3.13;3.19;3.13;3.14;3.13;3.14	5.63	-1.19	0.09585	.	0.198325	0.40908	N	0.000986	T	0.04182	0.0116	L	0.28115	0.83	0.23696	N	0.997081	B;B;B	0.21309	0.054;0.032;0.054	B;B;B	0.21546	0.035;0.016;0.035	T	0.39800	-0.9596	10	0.18710	T	0.47	.	3.3479	0.07142	0.1981:0.2911:0.4092:0.1015	.	600;626;603	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	E	626;600;169;603;590;600;590	ENSP00000260283:D626E;ENSP00000349660:D600E;ENSP00000437905:D169E;ENSP00000432076:D603E;ENSP00000436319:D590E;ENSP00000436522:D600E;ENSP00000431399:D590E	ENSP00000260283:D626E	D	-	3	2	ARHGAP20	109957002	1.000000	0.71417	0.625000	0.29200	0.023000	0.10783	1.514000	0.35834	-0.164000	0.10927	-0.150000	0.13652	GAC		0.483	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1		NM_020809	
ARHGEF3	50650	broad.mit.edu;hgsc.bcm.edu	37	3	56789107	56789107	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr3:56789107G>C	ENST00000296315.3	-	3	445	c.277C>G	c.(277-279)Ccc>Gcc	p.P93A	ARHGEF3_ENST00000496106.1_Missense_Mutation_p.P99A|ARHGEF3_ENST00000498517.1_5'UTR|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.P93A|ARHGEF3_ENST00000413728.2_Missense_Mutation_p.P99A|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.P64A|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.P125A	NM_019555.2	NP_062455.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	93					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|intracellular (GO:0005622)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.P93A(2)|p.P125A(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		GTGCTCGAGGGGGCGGCATTT	0.537																																																	3	Substitution - Missense(3)	kidney(3)											121.0	121.0	121.0					3																	56789107		2203	4300	6503	SO:0001583	missense	50650			AB209661	CCDS2878.1, CCDS46854.1, CCDS46855.1, CCDS74948.1	3p14.3	2012-09-20			ENSG00000163947	ENSG00000163947		"""Rho guanine nucleotide exchange factors"""	683	protein-coding gene	gene with protein product	"""exchange factor found in platelets and leukemic and neuronal tissues, XPLN"", ""RhoGEF protein"""	612115				10873612	Standard	NM_019555		Approved	STA3, XPLN, GEF3, DKFZP434F2429	uc003dih.2	Q9NR81	OTTHUMG00000158857	ENST00000296315.3:c.277C>G	3.37:g.56789107G>C	ENSP00000296315:p.Pro93Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5U7|Q4FZB6|Q4QQI5|Q4QQQ0|Q59F00|Q6NUN3|Q7Z4U2|Q7Z5T2|Q9H7T4	Missense_Mutation	SNP	ENST00000296315.3	37	CCDS2878.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497691	0.44455	.	.	ENSG00000163947	ENST00000296315;ENST00000338458;ENST00000413728;ENST00000496106;ENST00000497267;ENST00000495373;ENST00000468727;ENST00000473779	T;T;T;T;T;T	0.24350	1.95;1.86;1.86;1.88;1.88;1.97	5.2	0.494	0.16884	.	0.312522	0.33792	N	0.004549	T	0.16896	0.0406	L	0.41710	1.295	0.30011	N	0.815147	B;B;B;B;B;B	0.13145	0.005;0.003;0.0;0.007;0.0;0.002	B;B;B;B;B;B	0.15052	0.005;0.003;0.003;0.012;0.002;0.007	T	0.09037	-1.0693	10	0.41790	T	0.15	-9.0343	5.5158	0.16906	0.3972:0.1303:0.4725:0.0	.	99;64;93;125;93;99	E9PG37;E7EU49;C9J586;Q9NR81-2;Q9NR81;Q9NR81-3	.;.;.;.;ARHG3_HUMAN;.	A	93;125;99;99;64;93;94;111	ENSP00000296315:P93A;ENSP00000341071:P125A;ENSP00000410922:P99A;ENSP00000420420:P99A;ENSP00000418826:P64A;ENSP00000417986:P93A	ENSP00000296315:P93A	P	-	1	0	ARHGEF3	56764147	0.997000	0.39634	0.637000	0.29366	0.991000	0.79684	0.942000	0.29017	-0.137000	0.11455	0.563000	0.77884	CCC		0.537	ARHGEF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352431.2		NM_019555	
ARMC4	55130	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	28274097	28274097	+	Silent	SNP	A	A	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr10:28274097A>G	ENST00000305242.5	-	4	518	c.426T>C	c.(424-426)aaT>aaC	p.N142N	ARMC4_ENST00000537576.1_5'Flank|ARMC4_ENST00000239715.3_5'UTR	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	142					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)		p.N142N(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTTTCATTGTATTATAATCAG	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											44.0	41.0	42.0					10																	28274097		2201	4297	6498	SO:0001819	synonymous_variant	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.426T>C	10.37:g.28274097A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K906|B7Z7I1|Q9H0C0	Silent	SNP	ENST00000305242.5	37	CCDS7157.1																																																																																				0.318	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047339.1		NM_018076	
BAZ2B	29994	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	160205332	160205332	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:160205332C>A	ENST00000392783.2	-	30	5645	c.5150G>T	c.(5149-5151)gGt>gTt	p.G1717V	BAZ2B_ENST00000355831.2_Missense_Mutation_p.G1683V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G1617V|BAZ2B_ENST00000392782.1_Missense_Mutation_p.G1681V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1717					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G1717V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCTCCACCAACCAAACTGCAT	0.308																																																	1	Substitution - Missense(1)	kidney(1)											89.0	77.0	81.0					2																	160205332		1804	4075	5879	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.5150G>T	2.37:g.160205332C>A	ENSP00000376534:p.Gly1717Val	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833111	0.32421	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	D;D;D;D	0.83837	-1.77;-1.7;-1.77;-1.69	5.48	5.48	0.80851	.	0.000000	0.37669	U	0.001996	D	0.90734	0.7092	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90955	0.4808	10	0.72032	D	0.01	-15.3817	19.7152	0.96115	0.0:1.0:0.0:0.0	.	1681;1717	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	V	1681;1717;1683;1617	ENSP00000376533:G1681V;ENSP00000376534:G1717V;ENSP00000348087:G1683V;ENSP00000339670:G1617V	ENSP00000339670:G1617V	G	-	2	0	BAZ2B	159913578	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	2.733000	0.93635	0.591000	0.81541	GGT		0.308	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2			
TRMT1L	81627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	185108635	185108635	+	Missense_Mutation	SNP	A	A	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:185108635A>C	ENST00000367506.5	-	9	1454	c.1186T>G	c.(1186-1188)Tca>Gca	p.S396A	TRMT1L_ENST00000367504.3_Missense_Mutation_p.S240A	NM_001202423.1|NM_030934.4	NP_001189352.1|NP_112196.3	Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	396	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.				adult locomotory behavior (GO:0008344)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)	p.S396A(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAAGTCACTGACACTATGCCA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											61.0	61.0	61.0					1																	185108635		2203	4300	6503	SO:0001583	missense	0			AF288399	CCDS1366.1	1q25.2	2012-06-29	2012-06-29	2011-01-24	ENSG00000121486	ENSG00000121486			16782	protein-coding gene	gene with protein product	"""TRM1-like"""	611673	"""chromosome 1 open reading frame 25"", ""TRM1 tRNA methyltransferase 1-like"""	C1orf25		11318611, 17198746	Standard	NM_030934		Approved		uc001grf.4	Q7Z2T5	OTTHUMG00000035389	ENST00000367506.5:c.1186T>G	1.37:g.185108635A>C	ENSP00000356476:p.Ser396Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TEN0|Q6ZMX0|Q8IWH5|Q8NC68|Q9BZQ1	Missense_Mutation	SNP	ENST00000367506.5	37	CCDS1366.1	.	.	.	.	.	.	.	.	.	.	A	10.17	1.275857	0.23307	.	.	ENSG00000121486	ENST00000367504;ENST00000367506;ENST00000458395	.	.	.	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.59998	0.2235	L	0.33339	1.005	0.58432	D	0.999991	B	0.31383	0.321	B	0.42112	0.376	T	0.55509	-0.8130	9	0.21540	T	0.41	-12.5967	16.3947	0.83586	1.0:0.0:0.0:0.0	.	396	Q7Z2T5	TRM1L_HUMAN	A	240;396;20	.	ENSP00000356474:S240A	S	-	1	0	TRMT1L	183375258	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.027000	0.93706	2.272000	0.75746	0.459000	0.35465	TCA		0.383	TRMT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085787.1		NM_030934	
C7orf66	154907	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	108524166	108524166	+	Silent	SNP	A	A	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr7:108524166A>G	ENST00000379007.2	-	2	300	c.246T>C	c.(244-246)atT>atC	p.I82I		NM_001024607.1	NP_001019778.1	A4D0T2	CG066_HUMAN	chromosome 7 open reading frame 66	82						integral component of membrane (GO:0016021)		p.I82I(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						ATCCCTCATGAATTCTAGTTC	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											187.0	161.0	170.0					7																	108524166		2203	4300	6503	SO:0001819	synonymous_variant	154907			AF103078	CCDS34735.1	7q31.1	2009-03-06			ENSG00000205174	ENSG00000205174			33712	protein-coding gene	gene with protein product							Standard	NM_001024607		Approved		uc003vfo.3	A4D0T2	OTTHUMG00000154867	ENST00000379007.2:c.246T>C	7.37:g.108524166A>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000379007.2	37	CCDS34735.1																																																																																				0.393	C7orf66-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337420.1		NM_001024607	
CHST9	83539	broad.mit.edu;hgsc.bcm.edu	37	18	24496333	24496333	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr18:24496333G>C	ENST00000284224.8	-	6	1499	c.1222C>G	c.(1222-1224)Caa>Gaa	p.Q408E	AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.Q408E|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	408					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.Q408E(1)|p.Q323E(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTCACGACTTGAGCATTGGTT	0.358																																																	2	Substitution - Missense(2)	kidney(2)											147.0	136.0	139.0					18																	24496333		1841	4091	5932	SO:0001583	missense	83539			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1222C>G	18.37:g.24496333G>C	ENSP00000284224:p.Gln408Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	ENST00000284224.8	37	CCDS42422.1	.	.	.	.	.	.	.	.	.	.	G	3.515	-0.098949	0.07010	.	.	ENSG00000154080	ENST00000284224	T	0.72615	-0.67	6.07	4.22	0.49857	.	0.465278	0.21663	N	0.070984	T	0.36580	0.0972	N	0.01751	-0.74	0.28818	N	0.89783	B	0.09022	0.002	B	0.14023	0.01	T	0.33904	-0.9850	10	0.02654	T	1	-6.8165	7.7983	0.29160	0.0:0.2611:0.5081:0.2308	.	408	Q7L1S5	CHST9_HUMAN	E	408	ENSP00000284224:Q408E	ENSP00000284224:Q408E	Q	-	1	0	CHST9	22750331	0.990000	0.36364	0.696000	0.30242	0.869000	0.49853	2.597000	0.46214	1.526000	0.49068	0.655000	0.94253	CAA		0.358	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1		NM_031422	
CLCN6	1185	broad.mit.edu;ucsc.edu	37	1	11894635	11894635	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:11894635T>G	ENST00000346436.6	+	17	1833	c.1781T>G	c.(1780-1782)gTg>gGg	p.V594G	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.V572G|CLCN6_ENST00000376496.3_Missense_Mutation_p.V594G	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	594					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)	p.V594G(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACAGAGGTGGAAATGGAC	0.463																																																	1	Substitution - Missense(1)	kidney(1)											117.0	118.0	117.0					1																	11894635		2203	4300	6503	SO:0001583	missense	1185			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1781T>G	1.37:g.11894635T>G	ENSP00000234488:p.Val594Gly	Somatic		WXS	Illumina GAIIx	Phase_I	A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Missense_Mutation	SNP	ENST00000346436.6	37	CCDS138.1	.	.	.	.	.	.	.	.	.	.	T	11.79	1.744515	0.30865	.	.	ENSG00000011021	ENST00000346436;ENST00000376487;ENST00000376496	D;D;D	0.88201	-2.35;-2.35;-2.35	5.26	2.92	0.33932	.	0.184634	0.46758	D	0.000280	D	0.82825	0.5121	L	0.58101	1.795	0.80722	D	1	B;B	0.22080	0.022;0.064	B;B	0.18871	0.013;0.023	T	0.71444	-0.4591	10	0.25751	T	0.34	-13.4348	4.5043	0.11879	0.1423:0.1551:0.0:0.7026	.	572;594	F8W9R3;P51797	.;CLCN6_HUMAN	G	594;572;594	ENSP00000234488:V594G;ENSP00000365670:V572G;ENSP00000365679:V594G	ENSP00000234488:V594G	V	+	2	0	CLCN6	11817222	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.476000	0.45171	0.325000	0.23359	0.374000	0.22700	GTG		0.463	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006639.2		NM_001286	
DEPTOR	64798	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	121019105	121019105	+	Missense_Mutation	SNP	G	G	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr8:121019105G>C	ENST00000286234.5	+	7	1117	c.987G>C	c.(985-987)aaG>aaC	p.K329N	DEPTOR_ENST00000523492.1_Missense_Mutation_p.K228N|DEPTOR_ENST00000518057.1_3'UTR	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein	329					intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)		p.K329N(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATGCAAGGAAGACATTCACGG	0.498																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)											145.0	120.0	129.0					8																	121019105		2203	4300	6503	SO:0001583	missense	64798				CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.987G>C	8.37:g.121019105G>C	ENSP00000286234:p.Lys329Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Missense_Mutation	SNP	ENST00000286234.5	37	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.708227	0.68615	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	T;T	0.30714	1.52;1.52	5.2	4.31	0.51392	PDZ/DHR/GLGF (1);	0.139857	0.64402	D	0.000008	T	0.51517	0.1679	M	0.76170	2.325	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.96	T	0.54139	-0.8338	10	0.72032	D	0.01	-34.4088	8.7159	0.34411	0.2145:0.0:0.7855:0.0	.	228;329	E7EV87;Q8TB45	.;DPTOR_HUMAN	N	228;329	ENSP00000430457:K228N;ENSP00000286234:K329N	ENSP00000286234:K329N	K	+	3	2	DEPTOR	121088286	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.829000	0.48128	1.411000	0.46957	0.655000	0.94253	AAG		0.498	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1		NM_022783	
DOCK7	85440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62961314	62961314	+	Silent	SNP	A	A	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:62961314A>T	ENST00000340370.5	-	38	4886	c.4869T>A	c.(4867-4869)tcT>tcA	p.S1623S	DOCK7_ENST00000251157.5_Silent_p.S1645S	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1654					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)	p.S1623S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TCACAGTATCAGAAAGAATCA	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	83.0	82.0					1																	62961314		2203	4299	6502	SO:0001819	synonymous_variant	85440				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4869T>A	1.37:g.62961314A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	ENST00000340370.5	37	CCDS30734.1	.	.	.	.	.	.	.	.	.	.	A	10.64	1.408134	0.25378	.	.	ENSG00000116641	ENST00000454575	.	.	.	6.02	2.45	0.29901	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.6605	0.17667	0.6061:0.2376:0.0652:0.0911	.	.	.	.	R	817	.	.	X	-	1	0	DOCK7	62733902	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	0.470000	0.22084	0.501000	0.28013	0.528000	0.53228	TGA		0.343	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036806.1		NM_033407	
DST	667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56469946	56469946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr6:56469946C>T	ENST00000361203.3	-	36	8854	c.8847G>A	c.(8845-8847)tgG>tgA	p.W2949*	DST_ENST00000370769.4_Nonsense_Mutation_p.W2949*|DST_ENST00000446842.2_Nonsense_Mutation_p.W2623*|DST_ENST00000312431.6_Nonsense_Mutation_p.W2949*|DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Nonsense_Mutation_p.W3127*|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron			Q03001	DYST_HUMAN	dystonin	2949					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATTCCCTTCCCACGATGTAA	0.338																																																	0													48.0	46.0	47.0					6																	56469946		1874	4100	5974	SO:0001587	stop_gained	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.8847G>A	6.37:g.56469946C>T	ENSP00000354508:p.Trp2949*	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Intron	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	C	45	11.514948	0.99570	.	.	ENSG00000151914	ENST00000370754;ENST00000370769;ENST00000446842;ENST00000312431;ENST00000361203;ENST00000439203	.	.	.	5.6	1.83	0.25207	.	0.529879	0.16078	N	0.230663	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	7.8841	0.29640	0.6587:0.2718:0.0695:0.0	.	.	.	.	X	3127;2949;2623;2949;2949;2623	.	ENSP00000307959:W2949X	W	-	3	0	DST	56577905	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	0.052000	0.14163	0.074000	0.16767	-0.262000	0.10625	TGG		0.338	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3		NM_001723	
GGCT	79017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	30538534	30538534	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr7:30538534C>T	ENST00000275428.4	-	3	442	c.308G>A	c.(307-309)gGa>gAa	p.G103E	GGCT_ENST00000005374.6_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000598361.1_Missense_Mutation_p.G18E|GGCT_ENST00000409436.1_Missense_Mutation_p.G103E	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	103					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|release of cytochrome c from mitochondria (GO:0001836)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)|protein homodimerization activity (GO:0042803)	p.G103A(1)|p.G103E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						AACATACATTCCACTTTTAAC	0.378																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											146.0	138.0	141.0					7																	30538534		2203	4300	6503	SO:0001583	missense	79017			BC019243	CCDS5428.1, CCDS56474.1, CCDS56475.1, CCDS56476.1	7p15-p14	2010-04-23	2010-04-23	2008-08-04	ENSG00000006625	ENSG00000006625	2.3.2.4		21705	protein-coding gene	gene with protein product		137170	"""chromosome 7 open reading frame 24"""	C7orf24, GCTG		17932939, 18515354	Standard	NM_024051		Approved	MGC3077, CRF21, Ggc	uc003tba.3	O75223	OTTHUMG00000128593	ENST00000275428.4:c.308G>A	7.37:g.30538534C>T	ENSP00000275428:p.Gly103Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RDN0|B8ZZN4|B8ZZR8|Q9BS37	Missense_Mutation	SNP	ENST00000275428.4	37	CCDS5428.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.684927	0.88639	.	.	ENSG00000006625	ENST00000275428;ENST00000497601;ENST00000409436	.	.	.	5.55	5.55	0.83447	Butirosin biosynthesis, BtrG-like (1);AIG2-like (1);	0.095412	0.64402	D	0.000001	D	0.83220	0.5207	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83617	0.0137	9	0.52906	T	0.07	-16.9986	18.8487	0.92218	0.0:1.0:0.0:0.0	.	103;42	O75223;E7EU55	GGCT_HUMAN;.	E	103;42;103	.	ENSP00000275428:G103E	G	-	2	0	GGCT	30505059	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	4.442000	0.59988	2.773000	0.95371	0.650000	0.86243	GGA		0.378	GGCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250447.2		NM_024051	
GLT8D1	55830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52729443	52729443	+	Missense_Mutation	SNP	T	T	C			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr3:52729443T>C	ENST00000407584.3	-	9	1656	c.806A>G	c.(805-807)aAt>aGt	p.N269S	GLT8D1_ENST00000394783.3_Missense_Mutation_p.N269S|GLT8D1_ENST00000266014.5_Missense_Mutation_p.N269S|GLT8D1_ENST00000491606.1_Missense_Mutation_p.N269S|SNORD69_ENST00000391150.1_RNA|GLT8D1_ENST00000463827.1_5'UTR|GLT8D1_ENST00000478968.2_Missense_Mutation_p.N269S	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	269						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)	p.N269S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTACTCTACATTGAGTTTCAT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											189.0	194.0	192.0					3																	52729443		2203	4300	6503	SO:0001583	missense	55830			AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"""Glycosyltransferase family 8 domain containing"""	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.806A>G	3.37:g.52729443T>C	ENSP00000385730:p.Asn269Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q7Z4D1|Q8N2J6|Q9P0I5	Missense_Mutation	SNP	ENST00000407584.3	37	CCDS2862.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.724708	0.68959	.	.	ENSG00000016864	ENST00000478968;ENST00000394783;ENST00000407584;ENST00000266014;ENST00000491606;ENST00000394786	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.48624	0.1510	M	0.74467	2.265	0.80722	D	1	P	0.40000	0.698	B	0.39379	0.298	T	0.54118	-0.8341	10	0.59425	D	0.04	-26.1449	16.4159	0.83738	0.0:0.0:0.0:1.0	.	269	Q68CQ7	GL8D1_HUMAN	S	269;269;269;269;269;100	ENSP00000419612:N269S;ENSP00000378263:N269S;ENSP00000385730:N269S;ENSP00000266014:N269S;ENSP00000418853:N269S	ENSP00000266014:N269S	N	-	2	0	GLT8D1	52704483	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.650000	0.83521	2.279000	0.76181	0.533000	0.62120	AAT		0.378	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352065.3		NM_152932	
GOLM1	51280	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	88692459	88692459	+	Silent	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr9:88692459C>T	ENST00000388712.3	-	3	345	c.177G>A	c.(175-177)gaG>gaA	p.E59E	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Silent_p.E59E	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	59					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)		p.E59E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						CGGCGCCTCTCTCTGCAGCCG	0.597																																																	1	Substitution - coding silent(1)	kidney(1)											90.0	88.0	88.0					9																	88692459		2203	4300	6503	SO:0001819	synonymous_variant	51280			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.177G>A	9.37:g.88692459C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IAF4|Q9NRB9	Silent	SNP	ENST00000388712.3	37	CCDS35054.1																																																																																				0.597	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052904.2		NM_177937	
GPC5	2262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	92345927	92345927	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr13:92345927T>A	ENST00000377067.3	+	3	1184	c.812T>A	c.(811-813)aTg>aAg	p.M271K		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	271					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.M271K(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGCCTTGTATGGGATACTGC	0.547																																																	1	Substitution - Missense(1)	kidney(1)											95.0	84.0	88.0					13																	92345927		2203	4300	6503	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.812T>A	13.37:g.92345927T>A	ENSP00000366267:p.Met271Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	T	2.270	-0.367316	0.05069	.	.	ENSG00000179399	ENST00000377067	T	0.49720	0.77	5.45	5.45	0.79879	Glypican, conserved site (1);	0.124980	0.64402	D	0.000001	T	0.42944	0.1225	L	0.48642	1.525	0.36134	D	0.846355	B	0.19200	0.034	B	0.34346	0.18	T	0.47381	-0.9122	10	0.19147	T	0.46	-0.0487	9.283	0.37740	0.0:0.0802:0.0:0.9198	.	271	P78333	GPC5_HUMAN	K	271	ENSP00000366267:M271K	ENSP00000366267:M271K	M	+	2	0	GPC5	91143928	1.000000	0.71417	0.997000	0.53966	0.729000	0.41735	2.232000	0.43018	2.075000	0.62263	0.477000	0.44152	ATG		0.547	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1		NM_004466	
GPC6	10082	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	94482723	94482723	+	Silent	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr13:94482723C>T	ENST00000377047.4	+	3	1251	c.636C>T	c.(634-636)acC>acT	p.T212T	GPC6-AS2_ENST00000445540.1_RNA	NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	212					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.T212T(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TTCAGGTTACCCGCGCCTTCA	0.493																																																	1	Substitution - coding silent(1)	kidney(1)											61.0	58.0	59.0					13																	94482723		2203	4300	6503	SO:0001819	synonymous_variant	10082			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.636C>T	13.37:g.94482723C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K279|Q96SG5|Q96SG8|Q9H1P4	Silent	SNP	ENST00000377047.4	37	CCDS9469.1																																																																																				0.493	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045460.4		NM_005708	
GRB10	2887	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	50737542	50737542	+	Silent	SNP	G	G	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr7:50737542G>A	ENST00000401949.1	-	7	850	c.381C>T	c.(379-381)gaC>gaT	p.D127D	GRB10_ENST00000406641.1_Silent_p.D69D|GRB10_ENST00000398810.2_Silent_p.D69D|GRB10_ENST00000439599.1_Silent_p.D121D|GRB10_ENST00000402578.1_Silent_p.D69D|GRB10_ENST00000398812.2_Silent_p.D127D|GRB10_ENST00000357271.5_Silent_p.D127D|GRB10_ENST00000407526.1_Silent_p.D69D|GRB10_ENST00000402497.1_Silent_p.D69D|GRB10_ENST00000403097.1_Silent_p.D121D|GRB10_ENST00000335866.3_Silent_p.D69D			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	127					insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.D127D(1)|p.D121D(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TAAACTGCTGGTCTTCCTCCT	0.567									Russell-Silver syndrome																																								2	Substitution - coding silent(2)	kidney(2)											25.0	30.0	28.0					7																	50737542		1970	4156	6126	SO:0001819	synonymous_variant	2887	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.381C>T	7.37:g.50737542G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	CCDS43582.1																																																																																				0.567	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			
GREB1	9687	broad.mit.edu;ucsc.edu	37	2	11706697	11706697	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:11706697G>T	ENST00000381486.2	+	4	669	c.369G>T	c.(367-369)aaG>aaT	p.K123N	GREB1_ENST00000381483.2_Missense_Mutation_p.K123N|GREB1_ENST00000389825.3_Missense_Mutation_p.K13N|GREB1_ENST00000263834.5_Missense_Mutation_p.K123N|GREB1_ENST00000234142.5_Missense_Mutation_p.K123N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	123						integral component of membrane (GO:0016021)		p.K123N(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TGGGGGTCAAGTCCCCCAGCC	0.587																																					Ovarian(39;850 945 2785 23371 33093)												3	Substitution - Missense(3)	kidney(3)											110.0	99.0	103.0					2																	11706697		2203	4300	6503	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.369G>T	2.37:g.11706697G>T	ENSP00000370896:p.Lys123Asn	Somatic		WXS	Illumina GAIIx	Phase_I	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870675	0.91587	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.67523	2.65;1.79;-0.27;1.68;2.65	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.82646	0.5082	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.999;0.997;0.994	D	0.84248	0.0476	10	0.87932	D	0	-51.9779	19.4103	0.94670	0.0:0.0:1.0:0.0	.	123;13;123;123	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	N	123;123;13;123;123	ENSP00000370896:K123N;ENSP00000263834:K123N;ENSP00000374475:K13N;ENSP00000370892:K123N;ENSP00000234142:K123N	ENSP00000234142:K123N	K	+	3	2	GREB1	11624148	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.300000	0.51834	2.583000	0.87209	0.655000	0.94253	AAG		0.587	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668	
GREB1	9687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	11706699	11706699	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:11706699C>A	ENST00000381486.2	+	4	671	c.371C>A	c.(370-372)tCc>tAc	p.S124Y	GREB1_ENST00000381483.2_Missense_Mutation_p.S124Y|GREB1_ENST00000389825.3_Missense_Mutation_p.S14Y|GREB1_ENST00000263834.5_Missense_Mutation_p.S124Y|GREB1_ENST00000234142.5_Missense_Mutation_p.S124Y	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	124						integral component of membrane (GO:0016021)		p.S124Y(3)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGGGTCAAGTCCCCCAGCCTG	0.582																																					Ovarian(39;850 945 2785 23371 33093)												3	Substitution - Missense(3)	kidney(3)											112.0	101.0	104.0					2																	11706699		2203	4300	6503	SO:0001583	missense	9687				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.371C>A	2.37:g.11706699C>A	ENSP00000370896:p.Ser124Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	32	5.123716	0.94429	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	T;T;T;T;T	0.61859	2.75;1.77;0.07;1.78;2.75	5.51	5.51	0.81932	.	0.219131	0.39985	N	0.001202	T	0.76205	0.3955	M	0.73217	2.22	0.80722	D	1	D;D;D;D	0.71674	0.995;0.998;0.996;0.988	D;D;D;P	0.69824	0.94;0.966;0.912;0.863	T	0.78339	-0.2242	10	0.87932	D	0	-42.1595	19.4103	0.94670	0.0:1.0:0.0:0.0	.	124;14;124;124	Q4ZG55-2;F8W6E5;Q4ZG55-3;Q4ZG55	.;.;.;GREB1_HUMAN	Y	124;124;14;124;124	ENSP00000370896:S124Y;ENSP00000263834:S124Y;ENSP00000374475:S14Y;ENSP00000370892:S124Y;ENSP00000234142:S124Y	ENSP00000234142:S124Y	S	+	2	0	GREB1	11624150	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.666000	0.83877	2.583000	0.87209	0.655000	0.94253	TCC		0.582	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668	
HOXB6	3216	broad.mit.edu;ucsc.edu	37	17	46673821	46673821	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr17:46673821G>A	ENST00000484302.2	-	3	1251	c.629C>T	c.(628-630)gCg>gTg	p.A210V	HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000466037.2_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB6_ENST00000490419.1_5'Flank|HOXB5_ENST00000239151.5_5'Flank|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB6_ENST00000225648.3_Missense_Mutation_p.A210V|HOXB-AS3_ENST00000476204.1_RNA			P17509	HXB6_HUMAN	homeobox B6	210					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte homeostasis (GO:0034101)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A210V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)	7						GAGCTGAGACGCGCTGAGCAG	0.592																																																	1	Substitution - Missense(1)	kidney(1)											203.0	175.0	185.0					17																	46673821		2203	4300	6503	SO:0001583	missense	3216				CCDS11531.1	17q21.32	2011-06-20	2005-12-22		ENSG00000108511	ENSG00000108511		"""Homeoboxes / ANTP class : HOXL subclass"""	5117	protein-coding gene	gene with protein product		142961	"""homeo box B6"""	HOX2, HOX2B		1973146, 1358459	Standard	XM_005257284		Approved		uc002ins.1	P17509	OTTHUMG00000159912	ENST00000484302.2:c.629C>T	17.37:g.46673821G>A	ENSP00000420009:p.Ala210Val	Somatic		WXS	Illumina GAIIx	Phase_I	A8K835|D3DTV5|P09068|Q9HB11|Q9UGH2	Missense_Mutation	SNP	ENST00000484302.2	37	CCDS11531.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.158237	0.57368	.	.	ENSG00000108511	ENST00000484302;ENST00000225648	D;D	0.90844	-2.74;-2.74	4.52	4.52	0.55395	.	0.413681	0.21970	N	0.066464	D	0.82527	0.5056	N	0.16066	0.365	0.33646	D	0.607829	B	0.27679	0.185	B	0.14578	0.011	D	0.84307	0.0508	10	0.41790	T	0.15	.	17.027	0.86450	0.0:0.0:1.0:0.0	.	210	P17509	HXB6_HUMAN	V	210	ENSP00000420009:A210V;ENSP00000225648:A210V	ENSP00000225648:A210V	A	-	2	0	HOXB6	44028820	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.581000	0.82535	2.329000	0.79093	0.563000	0.77884	GCG		0.592	HOXB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358146.2			
HPSE2	60495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	100904018	100904018	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr10:100904018G>A	ENST00000370552.3	-	3	646	c.587C>T	c.(586-588)aCt>aTt	p.T196I	HPSE2_ENST00000370549.1_Missense_Mutation_p.T196I|HPSE2_ENST00000370546.1_Missense_Mutation_p.T196I|HPSE2_ENST00000404542.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	196					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)	p.T196I(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATTACTGTAAGTATTGGAGAA	0.433																																																	2	Substitution - Missense(2)	kidney(2)											101.0	97.0	98.0					10																	100904018		2203	4300	6503	SO:0001583	missense	60495			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.587C>T	10.37:g.100904018G>A	ENSP00000359583:p.Thr196Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	ENST00000370552.3	37	CCDS7477.1	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354336	0.41700	.	.	ENSG00000172987	ENST00000370552;ENST00000370549;ENST00000370546	T;T;T	0.31769	1.54;1.48;1.54	5.97	5.97	0.96955	Glycoside hydrolase, superfamily (1);	0.060855	0.64402	D	0.000005	T	0.18923	0.0454	N	0.03115	-0.41	0.80722	D	1	B;B;B	0.17038	0.007;0.02;0.009	B;B;B	0.17722	0.011;0.011;0.019	T	0.09840	-1.0656	10	0.36615	T	0.2	-8.0036	20.4062	0.99009	0.0:0.0:1.0:0.0	.	196;196;196	Q8WWQ2-2;Q8WWQ2-3;Q8WWQ2	.;.;HPSE2_HUMAN	I	196	ENSP00000359583:T196I;ENSP00000359580:T196I;ENSP00000359577:T196I	ENSP00000359577:T196I	T	-	2	0	HPSE2	100894008	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.215000	0.77966	2.831000	0.97527	0.655000	0.94253	ACT		0.433	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1		NM_021828	
ITGB7	3695	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53594099	53594099	+	Silent	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr12:53594099C>T	ENST00000267082.5	-	3	360	c.129G>A	c.(127-129)ggG>ggA	p.G43G	ITGB7_ENST00000338737.4_Silent_p.G43G|ITGB7_ENST00000422257.3_Silent_p.G43G|ITGB7_ENST00000550743.2_Silent_p.G43G	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	43					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.G43G(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTGGCAGGACCCCAGCATGG	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											95.0	81.0	86.0					12																	53594099		2203	4300	6503	SO:0001819	synonymous_variant	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.129G>A	12.37:g.53594099C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UCP7|Q9UCS7	Silent	SNP	ENST00000267082.5	37	CCDS8849.1																																																																																				0.582	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu	37	X	53246339	53246339	+	Nonsense_Mutation	SNP	T	T	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chrX:53246339T>A	ENST00000375401.3	-	5	1175	c.643A>T	c.(643-645)Aga>Tga	p.R215*	KDM5C_ENST00000375379.3_Nonsense_Mutation_p.R215*|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.R174*|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.R148*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.R214*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	215					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.R148*(1)|p.R215*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGCTGCAGTCTCTTGGCCCGC	0.537			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Nonsense(2)	kidney(2)											124.0	90.0	102.0					X																	53246339		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.643A>T	X.37:g.53246339T>A	ENSP00000364550:p.Arg215*	Somatic		WXS	Illumina HiSeq	Phase_I	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	T	43	10.421806	0.99402	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.5415	8.7849	0.34814	0.0:0.0:0.1878:0.8122	.	.	.	.	X	148;215;214;215;174	.	ENSP00000364528:R215X	R	-	1	2	KDM5C	53263064	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.742000	0.68646	1.836000	0.53414	0.430000	0.28490	AGA		0.537	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
CFAP74	85452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	1920343	1920343	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:1920343T>A	ENST00000434971.2	-	3	169	c.137A>T	c.(136-138)gAc>gTc	p.D46V				Q69YW0	CA222_HUMAN		272								p.D46V(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)	11	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTGTCCCGGGTCCACGTCATC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											51.0	53.0	52.0					1																	1920343		1844	4079	5923	SO:0001583	missense	85452																														ENST00000434971.2:c.137A>T	1.37:g.1920343T>A	ENSP00000408078:p.Asp46Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000434971.2	37		.	.	.	.	.	.	.	.	.	.	t	7.261	0.605254	0.14002	.	.	ENSG00000142609	ENST00000270720;ENST00000378590;ENST00000434971	T;T	0.52526	0.66;0.67	3.29	-6.58	0.01836	.	.	.	.	.	T	0.24586	0.0596	N	0.24115	0.695	0.09310	N	1	P;P	0.38020	0.615;0.615	B;B	0.29077	0.098;0.059	T	0.12344	-1.0551	9	0.33940	T	0.23	.	9.7623	0.40539	0.0:0.4509:0.3959:0.1532	.	46;46	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	V	46;37;46	ENSP00000367853:D37V;ENSP00000408078:D46V	ENSP00000270720:D46V	D	-	2	0	C1orf222	1910203	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.142000	0.00286	-3.095000	0.00246	-0.319000	0.08680	GAC		0.562	C1orf222-201	KNOWN	basic	protein_coding	protein_coding				
PPP1R21	129285	hgsc.bcm.edu;ucsc.edu	37	2	48692136	48692136	+	Intron	SNP	A	A	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:48692136A>G	ENST00000294952.8	+	8	904				PPP1R21_ENST00000281394.4_Intron|PPP1R21_ENST00000449090.2_Intron	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21							membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						CAGGTAAAGGATGAAGTACAT	0.348																																																	0													117.0	118.0	118.0					2																	48692136		2203	4300	6503	SO:0001627	intron_variant	0			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.747+8A>G	2.37:g.48692136A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	RNA	SNP	ENST00000294952.8	37	CCDS46278.1																																																																																				0.348	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251238.4		NM_152994	
LAMA2	3908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	129588336	129588336	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr6:129588336C>A	ENST00000421865.2	+	16	2343	c.2294C>A	c.(2293-2295)tCc>tAc	p.S765Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	765	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.S765Y(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATGCGGAGTCCTGTGATGAC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											317.0	263.0	282.0					6																	129588336		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.2294C>A	6.37:g.129588336C>A	ENSP00000400365:p.Ser765Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.797858	0.50208	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.62788	0.0	5.75	4.88	0.63580	EGF-like, laminin (3);	0.495395	0.21595	N	0.072034	T	0.45054	0.1323	L	0.60904	1.88	0.22266	N	0.999245	P;P	0.39022	0.655;0.655	B;B	0.37198	0.243;0.243	T	0.49000	-0.8984	10	0.66056	D	0.02	.	13.1822	0.59662	0.0:0.8705:0.0:0.1295	.	765;765	A6NF00;P24043	.;LAMA2_HUMAN	Y	765	ENSP00000400365:S765Y	ENSP00000346769:S765Y	S	+	2	0	LAMA2	129630029	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	0.613000	0.24299	2.719000	0.93026	0.655000	0.94253	TCC		0.488	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			
LAPTM4A	9741	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	20237323	20237323	+	Silent	SNP	T	T	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:20237323T>G	ENST00000175091.4	-	3	792	c.285A>C	c.(283-285)tcA>tcC	p.S95S		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	95					transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S95S(1)		endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAACCAGCATTGAACTGATTA	0.308																																					Ovarian(90;1240 1386 7711 14384 46863)												1	Substitution - coding silent(1)	kidney(1)											88.0	89.0	88.0					2																	20237323		2203	4300	6503	SO:0001819	synonymous_variant	9741			D14696	CCDS1696.1	2p24.1	2008-08-11	2008-08-11		ENSG00000068697	ENSG00000068697			6924	protein-coding gene	gene with protein product			"""lysosomal-associated protein transmembrane 4 alpha"""	MBNT		8621662, 7788527	Standard	NM_014713		Approved	HUMORF13, KIAA0108, Mtrp, LAPTM4	uc002rdm.3	Q15012	OTTHUMG00000090750	ENST00000175091.4:c.285A>C	2.37:g.20237323T>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6UW22	Silent	SNP	ENST00000175091.4	37	CCDS1696.1																																																																																				0.308	LAPTM4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207494.1		NM_014713	
MICAL3	57553	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	18376628	18376628	+	Silent	SNP	G	G	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr22:18376628G>A	ENST00000441493.2	-	11	1844	c.1492C>T	c.(1492-1494)Ctg>Ttg	p.L498L	MICAL3_ENST00000207726.7_Silent_p.L498L|MICAL3_ENST00000444520.1_Silent_p.L498L|MICAL3_ENST00000414725.2_Silent_p.L498L|MICAL3_ENST00000400561.2_Silent_p.L498L|MICAL3_ENST00000383094.3_Silent_p.L498L|MICAL3_ENST00000585038.1_Silent_p.L498L|MICAL3_ENST00000429452.1_Silent_p.L498L	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	498					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)	p.L498L(3)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TCCATTTCCAGGTGAATATCT	0.423																																																	3	Substitution - coding silent(3)	kidney(3)											18.0	19.0	19.0					22																	18376628		1567	3580	5147	SO:0001819	synonymous_variant	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1492C>T	22.37:g.18376628G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	CCDS46659.1																																																																																				0.423	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			
MPHOSPH6	10200	hgsc.bcm.edu;ucsc.edu	37	16	82185072	82185074	+	In_Frame_Del	DEL	AGA	AGA	-	rs370786041|rs370510103		TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	AGA	AGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr16:82185072_82185074delAGA	ENST00000258169.4	-	3	260_262	c.210_212delTCT	c.(208-213)cttctc>ctc	p.70_71LL>L	MPHOSPH6_ENST00000563504.1_In_Frame_Del_p.41_42LL>L	NM_005792.2	NP_005783.2	Q99547	MPH6_HUMAN	M-phase phosphoprotein 6	70					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(3)	5						TCTTCCATAGAGAAGATCTTCAC	0.286																																																	0																																										SO:0001651	inframe_deletion	10200			X98263	CCDS10937.1	16q23.3	2008-03-03			ENSG00000135698	ENSG00000135698			7214	protein-coding gene	gene with protein product		605500				8885239	Standard	NM_005792		Approved	MPP6	uc002fgw.3	Q99547	OTTHUMG00000137632	ENST00000258169.4:c.210_212delTCT	16.37:g.82185075_82185077delAGA	ENSP00000258169:p.Leu71del	Somatic		WXS	Illumina HiSeq	Phase_I	B2RAF0	In_Frame_Del	DEL	ENST00000258169.4	37	CCDS10937.1																																																																																				0.286	MPHOSPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269058.1		NM_005792	
MT1X	4501	broad.mit.edu;ucsc.edu|broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	56717110	56717111	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr16:56717110_56717111GC>AT	ENST00000394485.4	+	2	179_180	c.62_63GC>AT	c.(61-63)tGC>tAT	p.C21Y	RP11-343H19.2_ENST00000567563.1_RNA|MT1X_ENST00000562939.1_Missense_Mutation_p.C21Y	NM_005952.3	NP_005943.1	P80297	MT1X_HUMAN	metallothionein 1X	21	Beta.				cellular response to cadmium ion (GO:0071276)|cellular response to erythropoietin (GO:0036018)|cellular response to zinc ion (GO:0071294)|negative regulation of growth (GO:0045926)|response to metal ion (GO:0010038)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)	p.C21Y(1)|p.C21C(1)		kidney(2)	2						TCCTGCAAATGCAAAGAGTGCA	0.554																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	kidney(2)																																								SO:0001583	missense	4501			BC032338	CCDS10768.1	16q13	2010-10-20			ENSG00000187193	ENSG00000187193		"""Metallothioneins"""	7405	protein-coding gene	gene with protein product		156359		MT1		2286373, 8049263	Standard	NM_005952		Approved	MT-1l	uc002ejy.3	P80297	OTTHUMG00000133280	Exception_encountered	16.37:g.56717110_56717111delinsAT	ENSP00000377995:p.Cys21Tyr	Somatic		WXS	Illumina GAIIx|Illumina HiSeq	Phase_I	A8MUC7	Missense_Mutation|Silent	SNP	ENST00000394485.4	37	CCDS10768.1																																																																																				0.554	MT1X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257060.1		NM_005952	
NEB	4703	broad.mit.edu;ucsc.edu	37	2	152553192	152553192	+	Missense_Mutation	SNP	C	C	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:152553192C>A	ENST00000172853.10	-	17	1675	c.1528G>T	c.(1528-1530)Gtt>Ttt	p.V510F	NEB_ENST00000604864.1_Missense_Mutation_p.V510F|NEB_ENST00000409198.1_Missense_Mutation_p.V510F|NEB_ENST00000427231.2_Missense_Mutation_p.V510F|NEB_ENST00000603639.1_Missense_Mutation_p.V510F|NEB_ENST00000397345.3_Missense_Mutation_p.V510F			P20929	NEBU_HUMAN	nebulin	510					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.V510F(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTAGCAGAACAGGAGAGTCT	0.423																																																	2	Substitution - Missense(2)	kidney(2)											220.0	216.0	217.0					2																	152553192		1908	4126	6034	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.1528G>T	2.37:g.152553192C>A	ENSP00000172853:p.Val510Phe	Somatic		WXS	Illumina GAIIx	Phase_I	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	C	15.72	2.916745	0.52546	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000536533	T;T;T;T	0.46819	0.86;0.86;0.86;0.86	5.93	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.72118	2.19	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.71656	0.974;0.952	T	0.69262	-0.5191	10	0.62326	D	0.03	.	13.0822	0.59119	0.0:0.9254:0.0:0.0746	.	143;510	Q86TG3;P20929	.;NEBU_HUMAN	F	510;510;510;510;236	ENSP00000386259:V510F;ENSP00000380505:V510F;ENSP00000416578:V510F;ENSP00000172853:V510F	ENSP00000172853:V510F	V	-	1	0	NEB	152261438	1.000000	0.71417	0.979000	0.43373	0.204000	0.24138	2.463000	0.45058	1.524000	0.49035	-0.259000	0.10710	GTT		0.423	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543	
NLGN1	22871	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	173322838	173322838	+	Silent	SNP	C	C	T	rs140286287		TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr3:173322838C>T	ENST00000457714.1	+	3	879	c.450C>T	c.(448-450)agC>agT	p.S150S	NLGN1_ENST00000545397.1_Silent_p.S150S|NLGN1_ENST00000361589.4_Silent_p.S150S|NLGN1_ENST00000401917.3_Silent_p.S150S	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	150					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.S150S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAGACCAGAGCGAAGACTGCC	0.373																																																	1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	109.0	111.0	110.0		450	3.2	1.0	3	dbSNP_134	110	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	NLGN1	NM_014932.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		150/824	173322838	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	22871			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.450C>T	3.37:g.173322838C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q9UPT2	Silent	SNP	ENST00000457714.1	37	CCDS3222.1																																																																																				0.373	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3		NM_014932	
NLRP2	55655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55489137	55489137	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr19:55489137C>T	ENST00000543010.1	+	4	486	c.343C>T	c.(343-345)Cga>Tga	p.R115*	NLRP2_ENST00000339757.7_Nonsense_Mutation_p.R115*|NLRP2_ENST00000391721.4_Intron|NLRP2_ENST00000537859.1_Nonsense_Mutation_p.R115*|NLRP2_ENST00000448584.2_Nonsense_Mutation_p.R115*|NLRP2_ENST00000263437.6_Nonsense_Mutation_p.R115*|NLRP2_ENST00000427260.2_Nonsense_Mutation_p.R92*|NLRP2_ENST00000538819.1_Intron	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	115					positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)	p.R115*(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		ACGGAAAGAACGACCACCTCT	0.552																																																	1	Substitution - Nonsense(1)	kidney(1)											135.0	111.0	119.0					19																	55489137		2203	4300	6503	SO:0001587	stop_gained	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.343C>T	19.37:g.55489137C>T	ENSP00000445135:p.Arg115*	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Nonsense_Mutation	SNP	ENST00000543010.1	37	CCDS12913.1	.	.	.	.	.	.	.	.	.	.	C	9.650	1.141269	0.21205	.	.	ENSG00000022556	ENST00000433772;ENST00000543010;ENST00000339757;ENST00000448584;ENST00000537859;ENST00000427260;ENST00000263437;ENST00000397169	.	.	.	1.32	-2.65	0.06095	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	1.2233	0.01928	0.1635:0.4025:0.1609:0.2731	.	.	.	.	X	115;115;115;115;115;92;115;47	.	ENSP00000263437:R115X	R	+	1	2	NLRP2	60180949	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.409000	0.02483	-2.387000	0.00589	-2.841000	0.00105	CGA		0.552	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396152.1		NM_017852	
NLRP9	338321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	56243988	56243988	+	Silent	SNP	A	A	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr19:56243988A>T	ENST00000332836.2	-	2	1236	c.1209T>A	c.(1207-1209)atT>atA	p.I403I		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	403	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.I403I(1)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TATATGTCCAAATTCCCTCTG	0.468																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	82.0	81.0					19																	56243988		2203	4300	6503	SO:0001819	synonymous_variant	338321			AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.1209T>A	19.37:g.56243988A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RN12|Q86W27	Silent	SNP	ENST00000332836.2	37	CCDS12934.1																																																																																				0.468	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1		NM_176820	
NT5DC3	51559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104179176	104179176	+	Silent	SNP	C	C	A	rs61752308		TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr12:104179176C>A	ENST00000392876.3	-	12	1306	c.1266G>T	c.(1264-1266)acG>acT	p.T422T		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	422						cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.T347T(2)|p.T422T(2)		NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TGTATTGCTCCGTGTTCATGA	0.423																																																	4	Substitution - coding silent(4)	lung(2)|kidney(2)											242.0	201.0	215.0					12																	104179176		2203	4300	6503	SO:0001819	synonymous_variant	51559			AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1266G>T	12.37:g.104179176C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9NUM7|Q9P2T2|Q9P2T3	Silent	SNP	ENST00000392876.3	37	CCDS41824.1																																																																																				0.423	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347118.2		NM_016575	
OR5J2	282775	hgsc.bcm.edu;ucsc.edu	37	11	55944758	55944759	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr11:55944758_55944759insT	ENST00000312298.1	+	1	665_666	c.665_666insT	c.(664-669)gcttttfs	p.AF222fs		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATCTTCATTGCTTTTGCTAGCC	0.475																																																	0																																										SO:0001589	frameshift_variant	282775			AB065595	CCDS31522.1	11q11	2012-08-09			ENSG00000174957	ENSG00000174957		"""GPCR / Class A : Olfactory receptors"""	19612	protein-coding gene	gene with protein product							Standard	NM_001005492		Approved		uc010rjb.2	Q8NH18	OTTHUMG00000166835	ENST00000312298.1:c.669dupT	11.37:g.55944762_55944762dupT	ENSP00000310788:p.Ala222fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IEU5	Frame_Shift_Ins	INS	ENST00000312298.1	37	CCDS31522.1																																																																																				0.475	OR5J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391544.1		NM_001005492	
PDGFRA	5156	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	55131181	55131181	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr4:55131181G>T	ENST00000257290.5	+	5	1055	c.724G>T	c.(724-726)Gtg>Ttg	p.V242L	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	242	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.V242L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TAACAATGAGGTGGTTGACCT	0.463			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	1	Substitution - Missense(1)	kidney(1)											156.0	147.0	150.0					4																	55131181		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.724G>T	4.37:g.55131181G>T	ENSP00000257290:p.Val242Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710560	0.48517	.	.	ENSG00000134853	ENST00000257290	T	0.66815	-0.23	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.29522	U	0.011903	T	0.62208	0.2409	L	0.43757	1.38	0.80722	D	1	B;B	0.33807	0.15;0.426	B;B	0.38755	0.101;0.281	T	0.57452	-0.7809	10	0.08837	T	0.75	.	19.0765	0.93165	0.0:0.0:1.0:0.0	.	242;242	P16234-3;P16234	.;PGFRA_HUMAN	L	242	ENSP00000257290:V242L	ENSP00000257290:V242L	V	+	1	0	PDGFRA	54825938	1.000000	0.71417	0.983000	0.44433	0.745000	0.42441	4.460000	0.60108	2.518000	0.84900	0.561000	0.74099	GTG		0.463	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2		NM_006206	
PRTG	283659	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	55964783	55964783	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr15:55964783A>G	ENST00000389286.4	-	11	1948	c.1901T>C	c.(1900-1902)aTt>aCt	p.I634T		NM_173814.4	NP_776175.2			protogenin									p.I634T(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CCTCACAGAAATGGTGGTACA	0.453																																																	1	Substitution - Missense(1)	kidney(1)											76.0	71.0	73.0					15																	55964783		1899	4120	6019	SO:0001583	missense	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.1901T>C	15.37:g.55964783A>G	ENSP00000373937:p.Ile634Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000389286.4	37	CCDS42040.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626423	0.87560	.	.	ENSG00000166450	ENST00000389286	T	0.35605	1.3	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.475126	0.24922	N	0.034527	T	0.59059	0.2166	M	0.82823	2.61	0.80722	D	1	D	0.53619	0.961	P	0.57371	0.819	T	0.64837	-0.6313	10	0.62326	D	0.03	-21.73	15.035	0.71738	1.0:0.0:0.0:0.0	.	634	Q2VWP7	PRTG_HUMAN	T	634	ENSP00000373937:I634T	ENSP00000373937:I634T	I	-	2	0	PRTG	53752075	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	9.003000	0.93577	2.141000	0.66446	0.528000	0.53228	ATT		0.453	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419357.1		NM_173814	
RFPL2	10739	broad.mit.edu;hgsc.bcm.edu	37	22	32589043	32589043	+	Silent	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr22:32589043C>T	ENST00000400237.1	-	4	1337	c.402G>A	c.(400-402)ggG>ggA	p.G134G	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Silent_p.G73G|RFPL2_ENST00000400236.3_Silent_p.G44G|RFPL2_ENST00000248983.4_Silent_p.G44G			O75678	RFPL2_HUMAN	ret finger protein-like 2	134							zinc ion binding (GO:0008270)	p.G73G(1)|p.G134G(1)|p.G44G(1)		endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GTAGATCCTCCCCATGGGGCT	0.532																																																	3	Substitution - coding silent(3)	kidney(3)											104.0	106.0	105.0					22																	32589043		2203	4300	6503	SO:0001819	synonymous_variant	10739			AJ010231	CCDS43009.1, CCDS46694.1, CCDS43009.2	22q12.3	2008-06-12				ENSG00000128253		"""RING-type (C3HC4) zinc fingers"""	9979	protein-coding gene	gene with protein product		605969				10508838	Standard	NM_001098527		Approved	RNF79	uc003amg.3	O75678		ENST00000400237.1:c.402G>A	22.37:g.32589043C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000400237.1	37	CCDS43009.2																																																																																				0.532	RFPL2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075262.2		NM_006605	
RPS6KB1	6198	broad.mit.edu;hgsc.bcm.edu	37	17	58022845	58022845	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr17:58022845C>T	ENST00000225577.4	+	14	1327	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	RPS6KB1_ENST00000443572.2_Nonsense_Mutation_p.R413*|RPS6KB1_ENST00000406116.3_Nonsense_Mutation_p.R436*|RP11-178C3.1_ENST00000591035.1_Nonsense_Mutation_p.R39*|RPS6KB1_ENST00000393021.3_Nonsense_Mutation_p.R383*	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	436	Autoinhibitory domain.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)	p.R436*(2)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			CCGATCACCTCGAAGATTTAT	0.373																																																	2	Substitution - Nonsense(2)	ovary(1)|kidney(1)											64.0	56.0	59.0					17																	58022845		2203	4299	6502	SO:0001587	stop_gained	6198			M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.1306C>T	17.37:g.58022845C>T	ENSP00000225577:p.Arg436*	Somatic		WXS	Illumina HiSeq	Phase_I	B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Nonsense_Mutation	SNP	ENST00000225577.4	37	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	C	37	6.080649	0.97267	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577;ENST00000393021	.	.	.	5.3	3.25	0.37280	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.413	0.67128	0.2684:0.7316:0.0:0.0	.	.	.	.	X	413;436;436;383	.	ENSP00000225577:R436X	R	+	1	2	RPS6KB1	55377627	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.691000	0.68249	0.569000	0.29329	0.655000	0.94253	CGA		0.373	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1		NM_003161	
RYR3	6263	broad.mit.edu;ucsc.edu	37	15	33916176	33916176	+	Missense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr15:33916176G>T	ENST00000389232.4	+	20	2596	c.2526G>T	c.(2524-2526)caG>caT	p.Q842H	RYR3_ENST00000415757.3_Missense_Mutation_p.Q842H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	842	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.Q842H(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTACCACCCAGTTCCTCTCCC	0.463																																																	1	Substitution - Missense(1)	kidney(1)											165.0	159.0	161.0					15																	33916176		1877	4115	5992	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.2526G>T	15.37:g.33916176G>T	ENSP00000373884:p.Gln842His	Somatic		WXS	Illumina GAIIx	Phase_I	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	13.30	2.195945	0.38806	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96619	-4.07;-4.07	4.86	2.99	0.34606	.	0.434432	0.22942	N	0.053772	D	0.90793	0.7109	N	0.19112	0.55	0.42499	D	0.992922	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	D	0.85068	0.0938	10	0.42905	T	0.14	.	9.2542	0.37573	0.234:0.0:0.766:0.0	.	842;842	Q15413-2;Q15413	.;RYR3_HUMAN	H	842	ENSP00000373884:Q842H;ENSP00000399610:Q842H	ENSP00000354735:Q842H	Q	+	3	2	RYR3	31703468	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	0.467000	0.22035	0.653000	0.30826	0.563000	0.77884	CAG		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			
RPUSD2	27079	broad.mit.edu;ucsc.edu	37	15	40866002	40866002	+	Missense_Mutation	SNP	T	T	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr15:40866002T>G	ENST00000315616.7	+	3	1218	c.1180T>G	c.(1180-1182)Tgg>Ggg	p.W394G	RPUSD2_ENST00000559271.1_Missense_Mutation_p.W333G	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	394					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)	p.W394G(1)		kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		CTCAGTTGCCTGGGGTCCTTC	0.592																																																	1	Substitution - Missense(1)	kidney(1)											62.0	55.0	58.0					15																	40866002		2203	4300	6503	SO:0001583	missense	27079			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.1180T>G	15.37:g.40866002T>G	ENSP00000323288:p.Trp394Gly	Somatic		WXS	Illumina GAIIx	Phase_I	B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Missense_Mutation	SNP	ENST00000315616.7	37	CCDS10061.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.105763	0.77096	.	.	ENSG00000166133	ENST00000315616;ENST00000417769	T	0.21031	2.03	5.36	5.36	0.76844	Pseudouridine synthase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.51584	0.1683	M	0.88570	2.965	0.80722	D	1	D	0.71674	0.998	D	0.66196	0.942	T	0.61222	-0.7106	10	0.72032	D	0.01	-16.9228	15.1873	0.73012	0.0:0.0:0.0:1.0	.	394	Q8IZ73	RUSD2_HUMAN	G	394;373	ENSP00000323288:W394G	ENSP00000323288:W394G	W	+	1	0	RPUSD2	38653294	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.700000	0.84556	2.257000	0.74773	0.460000	0.39030	TGG		0.592	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252308.2		NM_152260	
SAMD4A	23034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55218223	55218223	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr14:55218223G>T	ENST00000554335.1	+	6	1807	c.1144G>T	c.(1144-1146)Gaa>Taa	p.E382*	SAMD4A_ENST00000251091.5_Nonsense_Mutation_p.E294*|SAMD4A_ENST00000392067.3_Nonsense_Mutation_p.E382*|SAMD4A_ENST00000357634.3_Nonsense_Mutation_p.E381*			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	382	SAM.				negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.E381*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GAAGCTCAAAGAAAGACAAAA	0.328																																																	1	Substitution - Nonsense(1)	kidney(1)											107.0	115.0	112.0					14																	55218223		2203	4300	6503	SO:0001587	stop_gained	23034			AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1144G>T	14.37:g.55218223G>T	ENSP00000452535:p.Glu382*	Somatic		WXS	Illumina HiSeq	Phase_I	A8MPZ5|Q0VA96|Q6PEW4	Nonsense_Mutation	SNP	ENST00000554335.1	37	CCDS32084.2	.	.	.	.	.	.	.	.	.	.	G	38	6.891014	0.97912	.	.	ENSG00000020577	ENST00000554335;ENST00000392067;ENST00000305831;ENST00000251091;ENST00000357634	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-14.7349	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	382;382;294;293;381	.	ENSP00000306381:E294X	E	+	1	0	SAMD4A	54287973	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.444000	0.97578	2.894000	0.99253	0.655000	0.94253	GAA		0.328	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1		NM_015589	
TMEM199	147007	broad.mit.edu;ucsc.edu	37	17	26686415	26686415	+	Silent	SNP	C	C	T	rs376471654		TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr17:26686415C>T	ENST00000292114.3	+	3	453	c.363C>T	c.(361-363)aaC>aaT	p.N121N	POLDIP2_ENST00000003607.4_5'Flank|CTB-96E2.3_ENST00000591482.1_RNA|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Silent_p.N121N|TMEM199_ENST00000395404.3_5'UTR|TMEM199_ENST00000581386.1_3'UTR|CTB-96E2.7_ENST00000577850.1_RNA|POLDIP2_ENST00000540200.1_5'Flank	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	121						integral component of membrane (GO:0016021)		p.N121N(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCACCCGCAACGTCACTTGTC	0.468																																																	1	Substitution - coding silent(1)	kidney(1)						C		0,4406		0,0,2203	92.0	76.0	82.0		363	2.0	1.0	17		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TMEM199	NM_152464.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		121/209	26686415	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23098			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.363C>T	17.37:g.26686415C>T		Somatic		WXS	Illumina GAIIx	Phase_I		Silent	SNP	ENST00000292114.3	37	CCDS11228.1																																																																																				0.468	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2		NM_152464	
SCAF4	57466	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	33074137	33074137	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr21:33074137A>T	ENST00000286835.7	-	6	934	c.552T>A	c.(550-552)gaT>gaA	p.D184E	SCAF4_ENST00000399804.1_Missense_Mutation_p.D184E|SCAF4_ENST00000434667.3_Missense_Mutation_p.D169E	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	184						nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D184E(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CAGCAAAAGCATCAGAGCTGG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											96.0	92.0	93.0					21																	33074137		2203	4300	6503	SO:0001583	missense	0			AB032998	CCDS33537.1, CCDS46644.1, CCDS54482.1	21q22.1	2013-02-12	2011-01-10	2011-01-10	ENSG00000156304	ENSG00000156304		"""RNA binding motif (RRM) containing"""	19304	protein-coding gene	gene with protein product			"""splicing factor, arginine/serine-rich 15"""	SFRS15		10574461	Standard	NM_020706		Approved	KIAA1172, DKFZp434E098, SRA4	uc002ypd.2	O95104	OTTHUMG00000084903	ENST00000286835.7:c.552T>A	21.37:g.33074137A>T	ENSP00000286835:p.Asp184Glu	Somatic		WXS	Illumina HiSeq	Phase_I	C9JLZ0|Q0P5W8|Q6P1M5|Q8N3I8|Q9UFM1|Q9ULP8	Missense_Mutation	SNP	ENST00000286835.7	37	CCDS33537.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.946886	0.73672	.	.	ENSG00000156304	ENST00000434667;ENST00000286835;ENST00000399804	T;T;T	0.52295	0.69;0.67;0.7	6.06	3.71	0.42584	.	0.098855	0.64402	D	0.000002	T	0.64724	0.2624	M	0.74258	2.255	0.53688	D	0.999971	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.83275	0.991;0.991;0.996;0.991	T	0.61594	-0.7031	10	0.37606	T	0.19	-20.2072	10.255	0.43392	0.8674:0.0:0.1326:0.0	.	169;184;184;184	C9JLZ0;Q0P607;O95104-2;O95104	.;.;.;SFR15_HUMAN	E	169;184;184	ENSP00000402377:D169E;ENSP00000286835:D184E;ENSP00000382703:D184E	ENSP00000286835:D184E	D	-	3	2	SCAF4	31996008	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.236000	0.51336	0.542000	0.28846	0.528000	0.53228	GAT		0.483	SCAF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000192659.1		XM_047889	
SIPA1L2	57568	broad.mit.edu;ucsc.edu	37	1	232607212	232607212	+	Silent	SNP	T	T	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:232607212T>A	ENST00000366630.1	-	7	2506	c.2148A>T	c.(2146-2148)gcA>gcT	p.A716A	SIPA1L2_ENST00000262861.4_Silent_p.A716A			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	716	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.A716A(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TAAAAGGAAGTGCCCCAGGCT	0.423																																																	1	Substitution - coding silent(1)	kidney(1)											144.0	149.0	147.0					1																	232607212		2123	4276	6399	SO:0001819	synonymous_variant	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2148A>T	1.37:g.232607212T>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	ENST00000366630.1	37	CCDS41474.1																																																																																				0.423	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1		XM_045839	
TAF15	8148	hgsc.bcm.edu	37	17	34171703	34171726	+	In_Frame_Del	DEL	GAGGAGGCGGCTATGGAGGAGACC	GAGGAGGCGGCTATGGAGGAGACC	-	rs543739946|rs569473616|rs187380389|rs577544142|rs140484493|rs181978759|rs560641478	byFrequency	TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	GAGGAGGCGGCTATGGAGGAGACC	GAGGAGGCGGCTATGGAGGAGACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr17:34171703_34171726delGAGGAGGCGGCTATGGAGGAGACC	ENST00000588240.1	+	15	1515_1538	c.1400_1423delGAGGAGGCGGCTATGGAGGAGACC	c.(1399-1425)agaggaggcggctatggaggagaccga>aga	p.467_475RGGGYGGDR>R	TAF15_ENST00000311979.3_In_Frame_Del_p.464_472RGGGYGGDR>R|TAF15_ENST00000592237.1_Intron	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.G469R(1)	TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ggtggggacagaggaggcggctatggaggagaccgaggaggtgg	0.621			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																			Dom	yes		17	17q11.1-q11.2	8148	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""		"""L, M"""	1	Substitution - Missense(1)	lung(1)																																								SO:0001651	inframe_deletion	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1400_1423delGAGGAGGCGGCTATGGAGGAGACC	17.37:g.34171703_34171726delGAGGAGGCGGCTATGGAGGAGACC	ENSP00000466950:p.Arg475_Asp482del	Somatic		WXS	Illumina HiSeq	Phase_I	D3DPM5|Q15775|Q5T077	In_Frame_Del	DEL	ENST00000588240.1	37	CCDS32623.1																																																																																				0.621	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449134.1		NM_139215	
TMEM167B	56900	broad.mit.edu;hgsc.bcm.edu	37	1	109635584	109635584	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:109635584C>G	ENST00000338272.8	+	2	1153	c.83C>G	c.(82-84)cCt>cGt	p.P28R	TMEM167B_ENST00000473828.1_3'UTR|RP5-1065J22.8_ENST00000608574.1_RNA	NM_020141.3	NP_064526.1	Q9NRX6	KISHB_HUMAN	transmembrane protein 167B	28						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.P28R(1)		endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7						AAGAAAGTACCTCGTCTCAAA	0.448																																																	1	Substitution - Missense(1)	kidney(1)											275.0	288.0	283.0					1																	109635584		2203	4299	6502	SO:0001583	missense	56900				CCDS30789.1	1p13.3	2008-06-06	2008-06-06	2008-06-06	ENSG00000215717	ENSG00000215717			30187	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 119"""	C1orf119		12477932	Standard	NM_020141		Approved	AD-020, FLJ90710	uc001dwn.3	Q9NRX6	OTTHUMG00000042364	ENST00000338272.8:c.83C>G	1.37:g.109635584C>G	ENSP00000342148:p.Pro28Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RUU9	Missense_Mutation	SNP	ENST00000338272.8	37	CCDS30789.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.697400	0.88830	.	.	ENSG00000215717	ENST00000338272	.	.	.	5.63	5.63	0.86233	.	0.000000	0.64402	U	0.000002	T	0.70718	0.3256	.	.	.	0.58432	D	0.999995	D	0.69078	0.997	D	0.67725	0.953	T	0.67078	-0.5761	8	0.32370	T	0.25	-4.2385	17.1829	0.86859	0.0:1.0:0.0:0.0	.	28	Q9NRX6	KISHB_HUMAN	R	28	.	ENSP00000342148:P28R	P	+	2	0	TMEM167B	109437107	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.910000	0.75741	2.641000	0.89580	0.650000	0.86243	CCT		0.448	TMEM167B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100611.2		NM_020141	
TRAF6	7189	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	36514141	36514141	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr11:36514141delG	ENST00000526995.1	-	6	962	c.716delC	c.(715-717)ccafs	p.P239fs	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Frame_Shift_Del_p.P239fs	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	239	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCATGGAATTGGGGCTGTAGG	0.323																																																	0													142.0	145.0	144.0					11																	36514141		2202	4298	6500	SO:0001589	frameshift_variant	7189				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.716delC	11.37:g.36514141delG	ENSP00000433623:p.Pro239fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKI7|A8KAB3|D3DR16|Q8NEH5	Frame_Shift_Del	DEL	ENST00000526995.1	37	CCDS7901.1																																																																																				0.323	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1		NM_145803	
TRPC4AP	26133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	33595391	33595391	+	Missense_Mutation	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr20:33595391C>T	ENST00000252015.2	-	14	1737	c.1648G>A	c.(1648-1650)Gca>Aca	p.A550T	TRPC4AP_ENST00000451813.2_Missense_Mutation_p.A542T|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.A152T|TRPC4AP_ENST00000432634.2_Missense_Mutation_p.A511T			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	550					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.A550T(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATCTGGTCTGCATAGGAGGTG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											105.0	98.0	100.0					20																	33595391		2203	4300	6503	SO:0001583	missense	26133			AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1648G>A	20.37:g.33595391C>T	ENSP00000252015:p.Ala550Thr	Somatic		WXS	Illumina HiSeq	Phase_I	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.757568	0.89843	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.49830	0.1580	L	0.45581	1.43	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.994	D;D;D	0.66716	0.946;0.946;0.946	T	0.47935	-0.9078	10	0.66056	D	0.02	.	18.796	0.91994	0.0:1.0:0.0:0.0	.	511;542;550	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	T	550;542;152;511;535	ENSP00000252015:A550T;ENSP00000400614:A542T;ENSP00000446090:A152T;ENSP00000400497:A511T	ENSP00000252015:A550T	A	-	1	0	TRPC4AP	33059052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.314000	0.78988	2.670000	0.90874	0.655000	0.94253	GCA		0.602	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2		NM_015638	
VCAN	1462	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	82835015	82835015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr5:82835015G>T	ENST00000265077.3	+	8	6758	c.6193G>T	c.(6193-6195)Gaa>Taa	p.E2065*	VCAN_ENST00000343200.5_Nonsense_Mutation_p.E1078*|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2065	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.E2065*(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACCAACAGCAGAAGTGGAAGG	0.428																																																	1	Substitution - Nonsense(1)	kidney(1)											66.0	63.0	64.0					5																	82835015		2203	4300	6503	SO:0001587	stop_gained	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.6193G>T	5.37:g.82835015G>T	ENSP00000265077:p.Glu2065*	Somatic		WXS	Illumina HiSeq	Phase_I	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	ENST00000265077.3	37	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	48	14.634744	0.99803	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000513960	.	.	.	4.98	3.06	0.35304	.	0.697403	0.13016	N	0.420456	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	2.7536	0.05287	0.1733:0.1455:0.5315:0.1497	.	.	.	.	X	2065;1078;1078	.	ENSP00000265077:E2065X	E	+	1	0	VCAN	82870771	0.032000	0.19561	0.015000	0.15790	0.214000	0.24535	1.356000	0.34079	1.229000	0.43630	0.591000	0.81541	GAA		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3		NM_004385	
ZBTB7C	201501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	45567044	45567044	+	Silent	SNP	G	G	A	rs144374638	byFrequency	TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr18:45567044G>A	ENST00000588982.1	-	3	936	c.435C>T	c.(433-435)gaC>gaT	p.D145D	ZBTB7C_ENST00000586438.1_Silent_p.D145D|ZBTB7C_ENST00000535628.2_Silent_p.D145D|ZBTB7C_ENST00000590800.1_Silent_p.D145D|ZBTB7C_ENST00000332053.2_Silent_p.D145D			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	145	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.D145D(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						catcatcttcgtcgtcgtcat	0.567													G|||	5	0.000998403	0.0038	0.0	5008	,	,		21232	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)						G		1,4405	2.1+/-5.4	0,1,2202	170.0	123.0	139.0		435	-3.8	0.2	18	dbSNP_134	139	0,8600		0,0,4300	no	coding-synonymous	ZBTB7C	NM_001039360.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		145/620	45567044	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201501			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.435C>T	18.37:g.45567044G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O73453	Silent	SNP	ENST00000588982.1	37	CCDS32830.1																																																																																				0.567	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450731.1		NM_001039360	
ZCCHC14	23174	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	87493727	87493727	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr16:87493727C>G	ENST00000268616.4	-	2	387	c.170G>C	c.(169-171)aGa>aCa	p.R57T		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	57							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)	p.R57T(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GGCCTCAGTTCTTGGAGTGAT	0.448																																																	1	Substitution - Missense(1)	kidney(1)											121.0	117.0	118.0					16																	87493727		2198	4300	6498	SO:0001583	missense	23174			AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.170G>C	16.37:g.87493727C>G	ENSP00000268616:p.Arg57Thr	Somatic		WXS	Illumina HiSeq	Phase_I	D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.268572	0.40095	.	.	ENSG00000140948	ENST00000268616	T	0.19938	2.11	5.31	5.31	0.75309	.	0.121221	0.56097	D	0.000028	T	0.44498	0.1296	L	0.60455	1.87	0.35157	D	0.770329	D	0.63880	0.993	D	0.72338	0.977	T	0.54970	-0.8213	10	0.66056	D	0.02	-29.4731	17.7643	0.88473	0.0:1.0:0.0:0.0	.	57	Q8WYQ9	ZCH14_HUMAN	T	57	ENSP00000268616:R57T	ENSP00000268616:R57T	R	-	2	0	ZCCHC14	86051228	0.880000	0.30214	0.012000	0.15200	0.003000	0.03518	4.742000	0.62103	2.487000	0.83934	0.655000	0.94253	AGA		0.448	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1		NM_015144	
ZNF449	203523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	134483227	134483227	+	Missense_Mutation	SNP	T	T	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chrX:134483227T>A	ENST00000339249.4	+	3	687	c.547T>A	c.(547-549)Ttt>Att	p.F183I		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	183					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F183I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCAGAACTTTCTGGACCC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											138.0	122.0	127.0					X																	134483227		2203	4300	6503	SO:0001583	missense	203523			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.547T>A	X.37:g.134483227T>A	ENSP00000339585:p.Phe183Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	T	10.08	1.252853	0.22965	.	.	ENSG00000173275	ENST00000339249	T	0.05258	3.47	4.43	4.43	0.53597	.	0.175486	0.27841	N	0.017636	T	0.04318	0.0119	L	0.27053	0.805	0.80722	D	1	P	0.37781	0.608	B	0.32980	0.156	T	0.53464	-0.8435	10	0.23891	T	0.37	.	9.0761	0.36522	0.0:0.0:0.0:1.0	.	183	Q6P9G9	ZN449_HUMAN	I	183	ENSP00000339585:F183I	ENSP00000339585:F183I	F	+	1	0	ZNF449	134310893	0.988000	0.35896	0.807000	0.32361	0.352000	0.29268	3.017000	0.49615	1.965000	0.57142	0.486000	0.48141	TTT		0.522	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1		NM_152695	
Unknown	0	broad.mit.edu	37	14	106770438	106770439	+	IGR	INS	-	-	CT	rs201826648|rs375833692	byFrequency	TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr14:106770438_106770439insCT								IGHV2-26 (12322 upstream) : IGHV4-28 (10073 downstream)																							CCTGGCCCAGCCTCTCTTGGCT	0.52														159	0.0317492	0.1074	0.0101	5008	,	,		13768	0.001		0.001	False		,,,				2504	0.0082																0																																										SO:0001628	intergenic_variant	8755																															14.37:g.106770443_106770444dupCT		Somatic		WXS	Illumina GAIIx	Phase_I		Splice_Site	INS		37																																																																																				0	0.520									
COMMD3	23412	broad.mit.edu	37	10	22605369	22605369	+	Missense_Mutation	SNP	A	A	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr10:22605369A>G	ENST00000376836.3	+	1	467	c.23A>G	c.(22-24)cAg>cGg	p.Q8R	COMMD3-BMI1_ENST00000463409.2_3'UTR|COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.Q8R	NM_012071.3	NP_036203.1	Q9UBI1	COMD3_HUMAN	COMM domain containing 3	8								p.Q8R(1)		kidney(2)|lung(2)|ovary(1)	5						GAGTCTGTGCAGAAAGGCTTC	0.672																																																	1	Substitution - Missense(1)	kidney(1)											56.0	35.0	42.0					10																	22605369		2096	4139	6235	SO:0001583	missense	648			AY542159	CCDS7137.1	10p12.2	2012-09-20	2004-02-13	2004-02-18	ENSG00000148444	ENSG00000148444			23332	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 8"""	C10orf8		11042152, 15799966	Standard	NM_012071		Approved	BUP		Q9UBI1	OTTHUMG00000017806	ENST00000376836.3:c.23A>G	10.37:g.22605369A>G	ENSP00000366032:p.Gln8Arg	Somatic		WXS	Illumina GAIIx	Phase_I	D3DRU7|Q5T8Y9	Missense_Mutation	SNP	ENST00000376836.3	37	CCDS7137.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.809737	0.70797	.	.	ENSG00000148444	ENST00000376836;ENST00000376776;ENST00000376787	T	0.45668	0.89	4.94	3.79	0.43588	.	0.321788	0.29424	N	0.012192	T	0.44008	0.1273	M	0.66939	2.045	0.34890	D	0.745454	P;P	0.48911	0.917;0.917	B;B	0.44315	0.353;0.446	T	0.61207	-0.7109	10	0.66056	D	0.02	-5.7731	10.4419	0.44471	0.8537:0.0:0.0:0.1463	.	8;8	Q9UBI1;E9PC68	COMD3_HUMAN;.	R	8	ENSP00000366032:Q8R	ENSP00000365968:Q8R	Q	+	2	0	COMMD3	22645375	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.589000	0.61006	0.984000	0.38629	0.533000	0.62120	CAG		0.672	COMMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047159.1		NM_012071	
KANSL1L	151050	broad.mit.edu	37	2	210887820	210887820	+	Missense_Mutation	SNP	C	C	G			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr2:210887820C>G	ENST00000281772.9	-	15	3080	c.2817G>C	c.(2815-2817)caG>caC	p.Q939H	KANSL1L_ENST00000418791.1_Missense_Mutation_p.Q897H	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	939						histone acetyltransferase complex (GO:0000123)		p.Q939H(1)									ACCTTTCAACCTGATCCTTTT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											124.0	117.0	119.0					2																	210887820		2203	4300	6503	SO:0001583	missense	0			AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.2817G>C	2.37:g.210887820C>G	ENSP00000281772:p.Gln939His	Somatic		WXS	Illumina GAIIx	Phase_I	B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	CCDS33370.1	.	.	.	.	.	.	.	.	.	.	C	1.917	-0.449390	0.04572	.	.	ENSG00000144445	ENST00000281772;ENST00000418791	.	.	.	5.6	2.73	0.32206	.	0.911616	0.09248	N	0.828287	T	0.27241	0.0668	L	0.27053	0.805	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.23583	-1.0184	9	0.45353	T	0.12	.	3.1241	0.06401	0.154:0.5548:0.1493:0.1419	.	897;939	A0AUZ9-2;A0AUZ9	.;CB067_HUMAN	H	939;897	.	ENSP00000281772:Q939H	Q	-	3	2	C2orf67	210596065	0.315000	0.24571	0.004000	0.12327	0.046000	0.14306	1.192000	0.32150	0.680000	0.31366	0.591000	0.81541	CAG		0.443	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3		NM_152519	
VWA7	80737	broad.mit.edu	37	6	31744362	31744362	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr6:31744362delT	ENST00000375688.4	-	2	395	c.195delA	c.(193-195)ccafs	p.P67fs	VWA7_ENST00000375686.3_Frame_Shift_Del_p.P67fs|Y_RNA_ENST00000364685.1_RNA|VWA7_ENST00000447450.1_Frame_Shift_Del_p.P67fs|VWA7_ENST00000467576.1_5'UTR			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	67						extracellular region (GO:0005576)											GGCCTGGGGGTGGCTGCTCCA	0.637																																																	0													15.0	7.0	10.0					6																	31744362		1363	2474	3837	SO:0001589	frameshift_variant	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.195delA	6.37:g.31744362delT	ENSP00000364840:p.Pro67fs	Somatic		WXS	Illumina GAIIx	Phase_I	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Frame_Shift_Del	DEL	ENST00000375688.4	37	CCDS4721.2																																																																																				0.637	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2		NM_025258	
CFP	5199	broad.mit.edu	37	X	47487501	47487501	+	Splice_Site	SNP	C	C	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chrX:47487501C>T	ENST00000396992.3	-	3	523	c.403G>A	c.(403-405)Gag>Aag	p.E135K	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000377005.2_Splice_Site_p.E135K|CFP_ENST00000247153.3_Splice_Site_p.E135K	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	135					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.E135K(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TCCTCCTCACCAGGACAGCAC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											42.0	34.0	37.0					X																	47487501		2203	4300	6503	SO:0001630	splice_region_variant	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.403+1G>A	X.37:g.47487501C>T		Somatic		WXS	Illumina GAIIx	Phase_I	O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	C	18.36	3.606649	0.66558	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005	T;T;T	0.40756	1.02;1.02;1.02	5.97	5.97	0.96955	.	0.320980	0.32884	N	0.005528	T	0.51719	0.1691	L	0.60067	1.865	0.47819	D	0.999528	P;P	0.47841	0.901;0.592	P;B	0.51701	0.677;0.314	T	0.46830	-0.9163	9	.	.	.	.	14.562	0.68148	0.0:1.0:0.0:0.0	.	71;135	B3KVK6;P27918	.;PROP_HUMAN	K	135	ENSP00000380189:E135K;ENSP00000247153:E135K;ENSP00000366204:E135K	.	E	-	1	0	CFP	47372445	0.999000	0.42202	0.998000	0.56505	0.076000	0.17211	4.383000	0.59600	2.517000	0.84864	0.600000	0.82982	GAG		0.642	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2		NM_002621	Missense_Mutation
CROCCP2	84809	broad.mit.edu	37	1	16945409	16945409	+	lincRNA	SNP	T	T	A	rs13566	byFrequency	TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr1:16945409T>A	ENST00000412962.1	-	0	2110				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											GCGGGATAGCTCGGTGGAGAG	0.612													.|||	1533	0.30611	0.2254	0.3473	5008	,	,		64331	0.2113		0.3767	False		,,,				2504	0.411																0																																												0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945409T>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																					0.612	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1		NR_026752.1	
DBP	1628	broad.mit.edu	37	19	49134131	49134131	+	Missense_Mutation	SNP	A	A	T			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr19:49134131A>T	ENST00000222122.5	-	4	1384	c.941T>A	c.(940-942)gTg>gAg	p.V314E	DBP_ENST00000599385.1_Missense_Mutation_p.V112E|DBP_ENST00000593500.1_Missense_Mutation_p.V112E	NM_001352.3	NP_001343.2	Q10586	DBP_HUMAN	D site of albumin promoter (albumin D-box) binding protein	314	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				liver development (GO:0001889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.V314E(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		TCGGGACAGCACGGCGCGGTA	0.672																																																	1	Substitution - Missense(1)	kidney(1)											16.0	19.0	18.0					19																	49134131		2200	4298	6498	SO:0001583	missense	1628			U06936	CCDS12728.1	19q13.33	2013-09-20			ENSG00000105516	ENSG00000105516			2697	protein-coding gene	gene with protein product		124097				1535333, 7835883	Standard	XR_243907		Approved	DABP	uc002pjx.4	Q10586	OTTHUMG00000183319	ENST00000222122.5:c.941T>A	19.37:g.49134131A>T	ENSP00000222122:p.Val314Glu	Somatic		WXS	Illumina GAIIx	Phase_I	A2I2P4	Missense_Mutation	SNP	ENST00000222122.5	37	CCDS12728.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.621907	0.87460	.	.	ENSG00000105516	ENST00000222122	T	0.44881	0.91	4.28	4.28	0.50868	Basic-leucine zipper (bZIP) transcription factor (2);	0.079957	0.50627	U	0.000105	T	0.46600	0.1401	L	0.47716	1.5	0.47862	D	0.999537	D	0.53151	0.958	P	0.52109	0.69	T	0.49551	-0.8928	10	0.72032	D	0.01	-14.5292	11.6891	0.51505	1.0:0.0:0.0:0.0	.	314	Q10586	DBP_HUMAN	E	314	ENSP00000222122:V314E	ENSP00000222122:V314E	V	-	2	0	DBP	53825943	0.989000	0.36119	1.000000	0.80357	0.980000	0.70556	6.781000	0.75068	1.914000	0.55421	0.460000	0.39030	GTG		0.672	DBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466167.1		NM_001352	
GOLGA6L10	647042	broad.mit.edu	37	15	82635163	82635163	+	Silent	SNP	C	C	G	rs28429808	byFrequency	TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr15:82635163C>G	ENST00000439287.4	-	9	1506	c.1407G>C	c.(1405-1407)gcG>gcC	p.A469A		NM_001164465.1	NP_001157937.1	A6NI86	GG6LA_HUMAN	golgin A6 family-like 10	469								p.A469A(10)		endometrium(1)|kidney(4)	5						CCCTGTTCTCCGCAGCCCGAA	0.478																																																	10	Substitution - coding silent(10)	kidney(8)|endometrium(2)																																								SO:0001819	synonymous_variant	647042				CCDS45325.1	15q25.2	2014-08-13	2010-02-12		ENSG00000278662				37228	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 10"", ""golgin A6 family-like 18"""	GOLGA6L18			Standard	XM_006720643		Approved		uc021ssn.1	A6NI86	OTTHUMG00000172580	ENST00000439287.4:c.1407G>C	15.37:g.82635163C>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000439287.4	37	CCDS45325.1																																																																																				0.478	GOLGA6L10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419403.2		NM_001164465	
INCENP	3619	broad.mit.edu	37	11	61897352	61897352	+	Missense_Mutation	SNP	G	G	A			TCGA-CZ-5467-01A-01D-1501-10	TCGA-CZ-5467-11A-01D-1501-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99c640a3-660f-4723-bf82-36fcb3134356	7021632c-f0b7-406b-b839-984c10966fe5	g.chr11:61897352G>A	ENST00000394818.3	+	4	555	c.353G>A	c.(352-354)gGc>gAc	p.G118D	INCENP_ENST00000278849.4_Missense_Mutation_p.G118D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	118					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)		p.G118D(2)		breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGGGAGAACGGCTCCGTCCTG	0.642																																																	2	Substitution - Missense(2)	kidney(2)											50.0	52.0	51.0					11																	61897352		2202	4299	6501	SO:0001583	missense	3619			AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.353G>A	11.37:g.61897352G>A	ENSP00000378295:p.Gly118Asp	Somatic		WXS	Illumina GAIIx	Phase_I	A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559136	0.27827	.	.	ENSG00000149503	ENST00000394818;ENST00000533896;ENST00000278849	T;T;T	0.22539	2.54;1.95;2.54	4.52	4.52	0.55395	.	0.264242	0.27076	N	0.021060	T	0.40522	0.1120	M	0.62723	1.935	0.28211	N	0.926927	D;D;D	0.76494	0.998;0.999;0.998	P;D;P	0.67548	0.852;0.952;0.896	T	0.17561	-1.0365	10	0.56958	D	0.05	.	12.6383	0.56694	0.0:0.0:1.0:0.0	.	118;118;118	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	D	118	ENSP00000378295:G118D;ENSP00000433100:G118D;ENSP00000278849:G118D	ENSP00000278849:G118D	G	+	2	0	INCENP	61653928	0.928000	0.31464	0.299000	0.25016	0.140000	0.21249	1.189000	0.32114	2.350000	0.79820	0.561000	0.74099	GGC		0.642	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2		NM_020238	
