#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
ACSS2	55902	broad.mit.edu	37	20	33508376	33508376	+	Missense_Mutation	SNP	A	A	G	rs375929217		TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr20:33508376A>G	ENST00000360596.2	+	9	1218	c.1007A>G	c.(1006-1008)tAt>tGt	p.Y336C	ACSS2_ENST00000476922.1_Intron|ACSS2_ENST00000336325.4_Missense_Mutation_p.Y286C|ACSS2_ENST00000253382.5_Missense_Mutation_p.Y349C	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	336					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|lipid biosynthetic process (GO:0008610)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)	p.Y349C(1)|p.Y336C(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TACATGCTCTATGTAGCCACA	0.517																																																	2	Substitution - Missense(2)	kidney(2)						A	CYS/TYR,CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	172.0	135.0	148.0		1046,722,1007	5.2	1.0	20		148	0,8600		0,0,4300	no	missense,missense,missense	ACSS2	NM_001076552.2,NM_001242393.1,NM_018677.3	194,194,194	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	349/715,241/607,336/702	33508376	1,13005	2203	4300	6503	SO:0001583	missense	55902			AF263614	CCDS13243.1, CCDS42868.1, CCDS42868.2	20q11.22	2012-07-13	2005-09-08	2005-09-08	ENSG00000131069	ENSG00000131069	6.2.1.1	"""Acyl-CoA synthetase family"""	15814	protein-coding gene	gene with protein product		605832	"""acetyl-Coenzyme A synthetase 2 (ADP forming)"""	ACAS2		10843999	Standard	NM_018677		Approved	ACS, ACSA, AceCS, dJ1161H23.1	uc010gey.2	Q9NR19	OTTHUMG00000032317	ENST00000360596.2:c.1007A>G	20.37:g.33508376A>G	ENSP00000353804:p.Tyr336Cys	Somatic		WXS	Illumina GAIIx	Phase_I	A6NE90|Q5QPH2|Q5QPH3|Q8N238|Q96EL0|Q9NQP7|Q9UJ15	Missense_Mutation	SNP	ENST00000360596.2	37	CCDS13243.1	.	.	.	.	.	.	.	.	.	.	A	16.06	3.015787	0.54468	2.27E-4	0.0	ENSG00000131069	ENST00000336325;ENST00000360596;ENST00000374693;ENST00000542204;ENST00000253382	T;T;T	0.41400	1.0;1.0;1.0	5.22	5.22	0.72569	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.66684	0.2814	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.987	T	0.72494	-0.4276	10	0.87932	D	0	-15.3285	10.8709	0.46883	0.8003:0.0:0.0:0.1997	.	349;336	Q5QPH3;Q9NR19	.;ACSA_HUMAN	C	286;336;334;44;349	ENSP00000337190:Y286C;ENSP00000353804:Y336C;ENSP00000253382:Y349C	ENSP00000253382:Y349C	Y	+	2	0	ACSS2	32972037	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.210000	0.51129	2.192000	0.70111	0.533000	0.62120	TAT		0.517	ACSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078823.3		NM_018677	
ALDH1L1	10840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	125828895	125828895	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr3:125828895C>T	ENST00000393434.2	-	20	2588	c.2239G>A	c.(2239-2241)Ggg>Agg	p.G747R	ALDH1L1_ENST00000452905.2_Missense_Mutation_p.G646R|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.G757R|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1-AS1_ENST00000512384.1_RNA|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.G747R	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	747	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)	p.G747R(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCTGCGGCCCGTGGTCGGTG	0.607																																																	1	Substitution - Missense(1)	kidney(1)											146.0	118.0	127.0					3																	125828895		2203	4300	6503	SO:0001583	missense	10840			AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.2239G>A	3.37:g.125828895C>T	ENSP00000377083:p.Gly747Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	CCDS3034.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228755	0.58777	.	.	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	3.91	3.91	0.45181	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.97679	0.9239	H	0.99911	4.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98235	1.0485	10	0.87932	D	0	.	13.431	0.61055	0.0:1.0:0.0:0.0	.	646;282;747	E9PBX3;Q6ZV71;O75891	.;.;AL1L1_HUMAN	R	757;747;646;747	ENSP00000273450:G757R;ENSP00000420293:G747R;ENSP00000395881:G646R;ENSP00000377083:G747R	ENSP00000273450:G757R	G	-	1	0	ALDH1L1	127311585	1.000000	0.71417	0.994000	0.49952	0.172000	0.22775	6.979000	0.76154	2.032000	0.59987	0.491000	0.48974	GGG		0.607	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1		NM_012190	
ALDH8A1	64577	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	135253987	135253987	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr6:135253987G>C	ENST00000265605.2	-	5	844	c.776C>G	c.(775-777)cCt>cGt	p.P259R	ALDH8A1_ENST00000367845.2_Missense_Mutation_p.P259R|ALDH8A1_ENST00000367847.2_Missense_Mutation_p.P209R	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	259					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.P259R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GATGATGGCAGGATTCTTGCC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											93.0	95.0	94.0					6																	135253987		2203	4300	6503	SO:0001583	missense	64577			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.776C>G	6.37:g.135253987G>C	ENSP00000265605:p.Pro259Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Missense_Mutation	SNP	ENST00000265605.2	37	CCDS5171.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940477	0.52972	.	.	ENSG00000118514	ENST00000265605;ENST00000367845;ENST00000367847	T;T;T	0.38722	1.12;1.12;1.12	5.45	4.58	0.56647	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.70962	0.3284	H	0.97732	4.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.995;0.997	T	0.82774	-0.0291	10	0.87932	D	0	.	14.1317	0.65257	0.0723:0.0:0.9277:0.0	.	209;259;259	B7Z521;Q9H2A2-2;Q9H2A2	.;.;AL8A1_HUMAN	R	259;259;209	ENSP00000265605:P259R;ENSP00000356819:P259R;ENSP00000356821:P209R	ENSP00000265605:P259R	P	-	2	0	ALDH8A1	135295680	1.000000	0.71417	1.000000	0.80357	0.147000	0.21601	7.677000	0.84024	1.300000	0.44818	0.557000	0.71058	CCT		0.612	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042334.2			
ALG10	84920	hgsc.bcm.edu	37	12	34179315	34179315	+	Nonsense_Mutation	SNP	C	C	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:34179315C>A	ENST00000266483.2	+	3	1206	c.887C>A	c.(886-888)tCa>tAa	p.S296*	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron|AC046130.1_ENST00000401300.2_RNA	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	296					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring hexosyl groups (GO:0016758)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				TACTTTTTTTCATTTACTCTC	0.348																																																	0													129.0	136.0	134.0					12																	34179315		2203	4297	6500	SO:0001587	stop_gained	84920			AJ312278	CCDS41769.1	12p11.21	2013-03-04	2013-03-04		ENSG00000139133	ENSG00000139133	2.4.1.256		23162	protein-coding gene	gene with protein product	"""derepression of ITR1 expression 2 homolog (S. cerevisiae)"", ""dolichyl-P-Glc:Glc(2)Man(9)GlcNAc(2)-PP-dolichol alpha-1,2- glucosyltransferase"""	603313	"""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (yeast)"", ""asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe)"""				Standard	NM_032834		Approved	FLJ14751, DIE2, ALG10A	uc001rlm.3	Q5BKT4	OTTHUMG00000169285	ENST00000266483.2:c.887C>A	12.37:g.34179315C>A	ENSP00000266483:p.Ser296*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6NS98|Q96DU0|Q96SM6	Nonsense_Mutation	SNP	ENST00000266483.2	37	CCDS41769.1	.	.	.	.	.	.	.	.	.	.	C	34	5.395886	0.96009	.	.	ENSG00000139133	ENST00000266483	.	.	.	3.37	2.43	0.29744	.	0.233918	0.45361	D	0.000366	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	9.6165	0.39694	0.0:0.5813:0.4187:0.0	.	.	.	.	X	296	.	ENSP00000266483:S296X	S	+	2	0	ALG10	34070582	0.993000	0.37304	0.885000	0.34714	0.607000	0.37147	2.944000	0.49034	0.502000	0.28037	0.184000	0.17185	TCA		0.348	ALG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403309.1		NM_032834	
ALKBH2	121642	broad.mit.edu	37	12	109530325	109530325	+	Silent	SNP	T	T	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:109530325T>A	ENST00000429722.2	-	2	630	c.267A>T	c.(265-267)gtA>gtT	p.V89V	ALKBH2_ENST00000440112.2_Silent_p.V89V|ALKBH2_ENST00000343075.3_Silent_p.V89V	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	89					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)	p.V89V(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	TAAAATATTCTACTTCTTTCT	0.473								Direct reversal of damage																																									1	Substitution - coding silent(1)	kidney(1)											59.0	55.0	56.0					12																	109530325		2203	4300	6503	SO:0001819	synonymous_variant	121642			AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.267A>T	12.37:g.109530325T>A		Somatic		WXS	Illumina GAIIx	Phase_I	A4PET2|Q5XLE3	Silent	SNP	ENST00000429722.2	37	CCDS31897.1																																																																																				0.473	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2		NM_001001655	
ALKBH2	121642	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	109530381	109530381	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:109530381C>T	ENST00000429722.2	-	2	574	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	ALKBH2_ENST00000440112.2_Missense_Mutation_p.V71I|ALKBH2_ENST00000343075.3_Missense_Mutation_p.V71I	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	71					DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)	p.V71I(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	CCAAACAGGACTGTGTAACTG	0.542								Direct reversal of damage																																									1	Substitution - Missense(1)	kidney(1)											115.0	116.0	116.0					12																	109530381		2203	4300	6503	SO:0001583	missense	121642			AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.211G>A	12.37:g.109530381C>T	ENSP00000398181:p.Val71Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	C	9.706	1.155810	0.21454	.	.	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370;ENST00000440112;ENST00000540305;ENST00000536242;ENST00000536358	T;T;T	0.23552	1.9;1.9;2.58	5.76	1.85	0.25348	.	0.436673	0.24735	N	0.036022	T	0.11452	0.0279	N	0.16743	0.435	0.09310	N	0.999997	B;B	0.27351	0.176;0.0	B;B	0.23419	0.046;0.002	T	0.17107	-1.0380	10	0.37606	T	0.19	-15.4134	1.7861	0.03042	0.1284:0.4013:0.2503:0.2199	.	71;71	A4PET2;Q6NS38	.;ALKB2_HUMAN	I	71	ENSP00000398181:V71I;ENSP00000343021:V71I;ENSP00000444103:V71I	ENSP00000343021:V71I	V	-	1	0	ALKBH2	108014764	0.001000	0.12720	0.015000	0.15790	0.017000	0.09413	-0.186000	0.09670	0.068000	0.16574	0.563000	0.77884	GTC		0.542	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2		NM_001001655	
ANKRD13C	81573	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	70781173	70781173	+	Silent	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr1:70781173G>C	ENST00000370944.4	-	4	967	c.654C>G	c.(652-654)gcC>gcG	p.A218A	ANKRD13C_ENST00000262346.6_Silent_p.A183A	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	218					protein retention in ER lumen (GO:0006621)|regulation of anoikis (GO:2000209)|regulation of receptor biosynthetic process (GO:0010869)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)	p.A218A(1)		endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CCTCTTTCAGGGCTTTTAATA	0.294																																																	1	Substitution - coding silent(1)	kidney(1)											76.0	83.0	81.0					1																	70781173		2203	4298	6501	SO:0001819	synonymous_variant	81573				CCDS648.2	1p32.3-p31.3	2013-01-10			ENSG00000118454	ENSG00000118454		"""Ankyrin repeat domain containing"""	25374	protein-coding gene	gene with protein product		615125				11230166	Standard	NM_030816		Approved	DKFZP566D1346, dJ677H15.3	uc001dex.4	Q8N6S4	OTTHUMG00000009343	ENST00000370944.4:c.654C>G	1.37:g.70781173G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KQ97|Q5VYH4|Q5VYH5|Q6PJE4|Q9H0N9	Silent	SNP	ENST00000370944.4	37	CCDS648.2																																																																																				0.294	ANKRD13C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025903.1		NM_030816	
ATP4A	495	broad.mit.edu;ucsc.edu	37	19	36054147	36054147	+	Silent	SNP	C	C	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr19:36054147C>T	ENST00000262623.3	-	3	208	c.180G>A	c.(178-180)gcG>gcA	p.A60A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	60					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)	p.A60A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	GTTCCAGCTCCGCCACTGACA	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											177.0	171.0	173.0					19																	36054147		2203	4300	6503	SO:0001819	synonymous_variant	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.180G>A	19.37:g.36054147C>T		Somatic		WXS	Illumina GAIIx	Phase_I	O00738	Silent	SNP	ENST00000262623.3	37	CCDS12467.1																																																																																				0.642	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2		NM_000704	
C11orf16	56673	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	8948498	8948498	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr11:8948498T>A	ENST00000326053.5	-	4	654	c.548A>T	c.(547-549)gAt>gTt	p.D183V	C11orf16_ENST00000525780.1_Missense_Mutation_p.D183V|C11orf16_ENST00000528998.1_5'Flank	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	183								p.D183V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TCTCTGGGGATCTCTCATCTC	0.572																																																	1	Substitution - Missense(1)	kidney(1)											68.0	66.0	67.0					11																	8948498		2201	4296	6497	SO:0001583	missense	56673			AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.548A>T	11.37:g.8948498T>A	ENSP00000318999:p.Asp183Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q53FB2|Q8N6Y9	Missense_Mutation	SNP	ENST00000326053.5	37	CCDS7794.1	.	.	.	.	.	.	.	.	.	.	T	8.389	0.839190	0.16891	.	.	ENSG00000176029	ENST00000525780;ENST00000326053	T;T	0.35789	1.31;1.29	5.62	0.803	0.18691	.	0.672953	0.14675	N	0.305117	T	0.41994	0.1183	L	0.43152	1.355	0.09310	N	0.999996	D;D	0.53885	0.963;0.963	P;P	0.58454	0.76;0.839	T	0.24119	-1.0169	10	0.42905	T	0.14	-16.059	8.3805	0.32468	0.0:0.2941:0.0:0.7059	.	183;183	Q9NQ32-2;Q9NQ32	.;CK016_HUMAN	V	183	ENSP00000436818:D183V;ENSP00000318999:D183V	ENSP00000318999:D183V	D	-	2	0	C11orf16	8905074	0.913000	0.31002	0.000000	0.03702	0.005000	0.04900	1.637000	0.37155	-0.105000	0.12132	-0.376000	0.06991	GAT		0.572	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1		NM_020643	
C12orf57	113246	broad.mit.edu	37	12	7054995	7054995	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:7054995C>A	ENST00000229281.5	+	3	390	c.291C>A	c.(289-291)agC>agA	p.S97R	C12orf57_ENST00000537087.1_Missense_Mutation_p.S68R|PTPN6_ENST00000447931.2_5'Flank|C12orf57_ENST00000542222.1_3'UTR|RNU7-1_ENST00000458811.1_RNA|U47924.31_ENST00000607421.1_RNA|C12orf57_ENST00000540506.2_Missense_Mutation_p.S62R|PTPN6_ENST00000399448.1_5'Flank	NM_138425.2	NP_612434.1	Q99622	C10_HUMAN	chromosome 12 open reading frame 57	97						cytoplasm (GO:0005737)		p.S97R(1)		kidney(1)|large_intestine(1)	2						AGATCGCCAGCCTGTCAGGCA	0.612																																																	1	Substitution - Missense(1)	kidney(1)											77.0	60.0	65.0					12																	7054995		2203	4300	6503	SO:0001583	missense	113246			U47924	CCDS8571.1	12p13.31	2012-05-30			ENSG00000111678	ENSG00000111678			29521	protein-coding gene	gene with protein product		615140				9445485	Standard	NM_138425		Approved	GRCC10, C10	uc009zfj.2	Q99622	OTTHUMG00000169017	ENST00000229281.5:c.291C>A	12.37:g.7054995C>A	ENSP00000229281:p.Ser97Arg	Somatic		WXS	Illumina GAIIx	Phase_I	B2R4Q6	Missense_Mutation	SNP	ENST00000229281.5	37	CCDS8571.1	.	.	.	.	.	.	.	.	.	.	C	10.94	1.493488	0.26774	.	.	ENSG00000111678	ENST00000545581;ENST00000537087;ENST00000229281	T;T;T	0.76578	-1.0;-1.03;-1.0	5.16	5.16	0.70880	.	0.107189	0.64402	D	0.000003	T	0.54679	0.1873	N	0.03324	-0.35	0.58432	D	0.999999	B	0.14012	0.009	B	0.14023	0.01	T	0.56202	-0.8018	10	0.05721	T	0.95	-15.1639	17.1818	0.86857	0.0:1.0:0.0:0.0	.	97	Q99622	C10_HUMAN	R	97;68;97	ENSP00000440602:S97R;ENSP00000440937:S68R;ENSP00000229281:S97R	ENSP00000229281:S97R	S	+	3	2	C12orf57	6925256	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.642000	0.54367	2.567000	0.86603	0.462000	0.41574	AGC		0.612	C12orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401959.1		NM_138425	
C17orf47	284083	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	56620725	56620725	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr17:56620725G>A	ENST00000321691.3	-	1	1004	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	275								p.L275F(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGACAGAGAGTTTGAGCAAT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											98.0	95.0	96.0					17																	56620725		2203	4300	6503	SO:0001583	missense	284083				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.823C>T	17.37:g.56620725G>A	ENSP00000354874:p.Leu275Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151461	0.57151	.	.	ENSG00000181013	ENST00000321691	T	0.39406	1.08	5.46	-2.44	0.06502	.	0.638943	0.14627	N	0.308032	T	0.25531	0.0621	L	0.29908	0.895	0.09310	N	1	B	0.23735	0.09	B	0.26310	0.068	T	0.18429	-1.0337	10	0.51188	T	0.08	-2.2747	5.5262	0.16959	0.3305:0.3136:0.3559:0.0	.	275	Q8NEP4	CQ047_HUMAN	F	275	ENSP00000354874:L275F	ENSP00000354874:L275F	L	-	1	0	C17orf47	53975724	0.090000	0.21635	0.299000	0.25016	0.162000	0.22319	-0.221000	0.09202	-0.232000	0.09811	0.563000	0.77884	CTC		0.453	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1		NM_001038704	
MIS18A	54069	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	33642768	33642768	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr21:33642768A>C	ENST00000290130.3	-	3	528	c.474T>G	c.(472-474)aaT>aaG	p.N158K	MIS18A_ENST00000486363.1_5'UTR	NM_018944.2	NP_061817.1	Q9NYP9	MS18A_HUMAN	MIS18 kinetochore protein A	158					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of DNA methylation (GO:0044030)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.N158K(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7						TGTAATCAAGATTCTTGGGCG	0.423																																																	1	Substitution - Missense(1)	kidney(1)											94.0	83.0	87.0					21																	33642768		2203	4300	6503	SO:0001583	missense	0			AF231921	CCDS13611.1	21q22.11	2013-10-21	2013-10-21	2011-02-23	ENSG00000159055	ENSG00000159055			1286	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 46"", ""chromosome 21 open reading frame 45"", ""MIS18 kinetochore protein homolog A (S. pombe)"""	C21orf46, C21orf45		17199038	Standard	NM_018944		Approved	B28, FASP1, hMis18alpha	uc002ypi.3	Q9NYP9	OTTHUMG00000085308	ENST00000290130.3:c.474T>G	21.37:g.33642768A>C	ENSP00000290130:p.Asn158Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B2R562|Q542Z0	Missense_Mutation	SNP	ENST00000290130.3	37	CCDS13611.1	.	.	.	.	.	.	.	.	.	.	A	4.030	0.003029	0.07866	.	.	ENSG00000159055	ENST00000290130	.	.	.	5.78	-3.94	0.04130	.	1.060650	0.07249	N	0.865601	T	0.22282	0.0537	L	0.38531	1.155	0.09310	N	1	P	0.38504	0.634	B	0.31101	0.124	T	0.17992	-1.0351	9	0.36615	T	0.2	-0.4897	8.6454	0.34003	0.2452:0.0:0.6223:0.1325	.	158	Q9NYP9	MS18A_HUMAN	K	158	.	ENSP00000290130:N158K	N	-	3	2	MIS18A	32564639	0.000000	0.05858	0.001000	0.08648	0.070000	0.16714	-0.767000	0.04720	-0.725000	0.04901	0.454000	0.30748	AAT		0.423	MIS18A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193090.1		NM_018944	
TSPEAR	54084	broad.mit.edu	37	21	45950936	45950936	+	Missense_Mutation	SNP	C	C	A	rs200994878		TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr21:45950936C>A	ENST00000323084.4	-	4	688	c.623G>T	c.(622-624)gGc>gTc	p.G208V	TSPEAR_ENST00000397916.1_Missense_Mutation_p.G140V	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	208	Laminin G-like.				sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)		p.G208V(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						CATGAACAGGCCTTTGGCTCT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											74.0	59.0	64.0					21																	45950936		2203	4300	6503	SO:0001583	missense	0			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.623G>T	21.37:g.45950936C>A	ENSP00000321987:p.Gly208Val	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000323084.4	37	CCDS13712.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.568097	0.45798	.	.	ENSG00000175894	ENST00000323084;ENST00000397916;ENST00000341581	T;T	0.02682	4.2;4.2	4.44	4.44	0.53790	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.101569	0.64402	D	0.000002	T	0.13884	0.0336	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.00243	-1.1884	10	0.66056	D	0.02	11.2173	12.5699	0.56331	0.0:1.0:0.0:0.0	.	208	Q8WU66	TSEAR_HUMAN	V	208;140;208	ENSP00000321987:G208V;ENSP00000381012:G140V	ENSP00000321987:G208V	G	-	2	0	TSPEAR	44775364	1.000000	0.71417	0.595000	0.28798	0.081000	0.17604	5.284000	0.65627	2.018000	0.59344	0.563000	0.77884	GGC		0.582	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098761.1		NM_144991	
CPED1	79974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	120773891	120773891	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr7:120773891A>C	ENST00000310396.5	+	13	2059	c.1592A>C	c.(1591-1593)gAa>gCa	p.E531A	CPED1_ENST00000423795.1_Missense_Mutation_p.E311A|CPED1_ENST00000450913.2_Missense_Mutation_p.E531A	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	531						endoplasmic reticulum (GO:0005783)		p.E531A(1)									TCTTTCACAGAAGATAAGAAC	0.303																																																	1	Substitution - Missense(1)	kidney(1)											97.0	100.0	99.0					7																	120773891		2203	4299	6502	SO:0001583	missense	0				CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1592A>C	7.37:g.120773891A>C	ENSP00000309772:p.Glu531Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	A	4.759	0.141144	0.09083	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.45668	2.22;0.89;1.89;1.9;1.48	5.44	4.3	0.51218	.	1.187570	0.05723	N	0.598062	T	0.41581	0.1165	L	0.54323	1.7	0.23325	N	0.997903	B;B;B	0.26809	0.001;0.16;0.0	B;B;B	0.28305	0.003;0.088;0.001	T	0.33650	-0.9860	10	0.28530	T	0.3	.	8.508	0.33199	0.9092:0.0:0.0908:0.0	.	311;531;531	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	A	531;531;531;311;311	ENSP00000309772:E531A;ENSP00000398082:E531A;ENSP00000406122:E531A;ENSP00000415573:E311A;ENSP00000391952:E311A	ENSP00000309772:E531A	E	+	2	0	C7orf58	120561127	0.245000	0.23899	0.002000	0.10522	0.840000	0.47671	2.502000	0.45398	1.021000	0.39600	0.529000	0.55759	GAA		0.303	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1		NM_024913	
CACNA1S	779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201010703	201010703	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr1:201010703C>G	ENST00000362061.3	-	41	5289	c.5063G>C	c.(5062-5064)aGg>aCg	p.R1688T	RP11-168O16.2_ENST00000415359.1_RNA|CACNA1S_ENST00000367338.3_Missense_Mutation_p.R1669T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1688					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R1688T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGGAACTCCCTTTCATAGTG	0.562																																																	1	Substitution - Missense(1)	kidney(1)											78.0	65.0	70.0					1																	201010703		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5063G>C	1.37:g.201010703C>G	ENSP00000355192:p.Arg1688Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	9.912	1.209713	0.22289	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95949	-3.86;-3.8	4.51	0.408	0.16377	.	9.571350	0.00397	N	0.000059	D	0.90817	0.7116	L	0.36672	1.1	0.09310	N	1	B	0.23937	0.094	B	0.19666	0.026	T	0.79262	-0.1876	10	0.16896	T	0.51	.	3.3463	0.07136	0.3599:0.4418:0.0:0.1983	.	1688	Q13698	CAC1S_HUMAN	T	1688;1669	ENSP00000355192:R1688T;ENSP00000356307:R1669T	ENSP00000355192:R1688T	R	-	2	0	CACNA1S	199277326	0.000000	0.05858	0.123000	0.21794	0.042000	0.13812	-0.016000	0.12613	0.234000	0.21139	-0.475000	0.04921	AGG		0.562	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1		NM_000069	
CCDC144CP	348254	broad.mit.edu	37	17	20241534	20241534	+	RNA	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr17:20241534G>C	ENST00000340196.4	+	0	2823				RN7SL17P_ENST00000583626.1_RNA			Q8IYA2	C144C_HUMAN	coiled-coil domain containing 144C, pseudogene																		GCGAAAATAAGCAGCCACAAG	0.353																																																	0																																												348254					17p11.2	2013-03-14	2013-03-14	2013-03-14	ENSG00000154898	ENSG00000154898			29073	pseudogene	pseudogene			"""coiled-coil domain containing 144C"""	CCDC144C		11997339	Standard	NR_023380		Approved		uc010cqy.1	Q8IYA2	OTTHUMG00000059513		17.37:g.20241534G>C		Somatic		WXS	Illumina GAIIx	Phase_I	B7WNP5	RNA	SNP	ENST00000340196.4	37																																																																																					0.353	CCDC144CP-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132378.2		NR_023380	
CCDC160	347475	broad.mit.edu;hgsc.bcm.edu	37	X	133379666	133379666	+	Missense_Mutation	SNP	G	G	T	rs200917250		TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chrX:133379666G>T	ENST00000517294.1	+	3	1219	c.836G>T	c.(835-837)aGt>aTt	p.S279I	CCDC160_ENST00000370809.4_Missense_Mutation_p.S279I			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	279								p.S279I(1)|p.S279N(1)		endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GGAGAGCTCAGTGTCATCAAG	0.383																																																	2	Substitution - Missense(2)	kidney(2)											42.0	38.0	39.0					X																	133379666		1837	4073	5910	SO:0001583	missense	347475			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.836G>T	X.37:g.133379666G>T	ENSP00000427951:p.Ser279Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000517294.1	37	CCDS48171.1	.	.	.	.	.	.	.	.	.	.	G	1.875	-0.459336	0.04508	.	.	ENSG00000203952	ENST00000517294;ENST00000370809	D;D	0.90844	-2.74;-2.74	5.29	-1.73	0.08081	.	1.068870	0.07308	N	0.875388	T	0.76300	0.3968	N	0.08118	0	0.09310	N	1	P	0.34546	0.456	B	0.29862	0.108	T	0.65376	-0.6183	10	0.39692	T	0.17	-0.7691	4.9933	0.14226	0.4906:0.266:0.2434:0.0	.	279	A6NGH7	CC160_HUMAN	I	279	ENSP00000427951:S279I;ENSP00000359845:S279I	ENSP00000359845:S279I	S	+	2	0	CCDC160	133207332	0.001000	0.12720	0.001000	0.08648	0.000000	0.00434	0.618000	0.24373	-0.644000	0.05465	-1.427000	0.01099	AGT		0.383	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1		NM_001101357	
CDRT1	374286	broad.mit.edu;hgsc.bcm.edu	37	17	15516051	15516051	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr17:15516051C>T	ENST00000395906.3	-	5	1085	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	RP11-385D13.1_ENST00000455584.2_Missense_Mutation_p.M672I	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	362								p.M362I(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GTTTCACACGCATGCTCTTCC	0.448																																																	2	Substitution - Missense(2)	kidney(2)											188.0	189.0	189.0					17																	15516051		2203	4300	6503	SO:0001583	missense	374286			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.1086G>A	17.37:g.15516051C>T	ENSP00000379242:p.Met362Ile	Somatic		WXS	Illumina HiSeq	Phase_I	O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	CCDS45619.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.37|10.37	1.332048|1.332048	0.24167|0.24167	.|.	.|.	ENSG00000251537|ENSG00000251537	ENST00000455584|ENST00000261644;ENST00000395906	.|T	.|0.18810	.|2.19	5.34|5.34	-10.1|-10.1	0.00402|0.00402	.|F-box domain, Skp2-like (1);	.|1.747040	.|0.03734	.|N	.|0.254018	T|T	0.04092|0.04092	0.0114|0.0114	N|N	0.00841|0.00841	-1.15|-1.15	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.0	T|T	0.29427|0.29427	-1.0012|-1.0012	5|10	.|0.21014	.|T	.|0.42	.|.	1.5117|1.5117	0.02497|0.02497	0.3327:0.1216:0.1213:0.4244|0.3327:0.1216:0.1213:0.4244	.|.	.|362;686	.|O95170;Q59EB2	.|CDRT1_HUMAN;.	Y|I	687|392;362	.|ENSP00000379242:M362I	.|ENSP00000261644:M392I	C|M	-|-	2|3	0|0	RP11-385D13.1|RP11-385D13.1	15456776|15456776	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.004000|0.004000	0.04260|0.04260	-3.239000|-3.239000	0.00544|0.00544	-1.354000|-1.354000	0.02188|0.02188	0.555000|0.555000	0.69702|0.69702	TGC|ATG		0.448	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1		NM_006382	
CERKL	375298	hgsc.bcm.edu	37	2	182430234	182430234	+	Frame_Shift_Del	DEL	C	C	-			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr2:182430234delC	ENST00000339098.5	-	5	680	c.681delG	c.(679-681)gggfs	p.G227fs	CERKL_ENST00000374970.2_Intron|CERKL_ENST00000374969.2_Intron|CERKL_ENST00000479558.1_Intron|CERKL_ENST00000409440.3_Frame_Shift_Del_p.G183fs|CERKL_ENST00000410087.3_Intron			Q49MI3	CERKL_HUMAN	ceramide kinase-like	227	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GTTTCCGATGCCCACTGTGAA	0.318																																																	0													132.0	118.0	122.0					2																	182430234		1851	4102	5953	SO:0001589	frameshift_variant	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.681delG	2.37:g.182430234delC	ENSP00000341159:p.Gly227fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Frame_Shift_Del	DEL	ENST00000339098.5	37	CCDS42789.1																																																																																				0.318	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			
CHST8	64377	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	34263556	34263556	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr19:34263556T>A	ENST00000262622.4	+	4	1621	c.863T>A	c.(862-864)cTg>cAg	p.L288Q	CHST8_ENST00000438847.3_Missense_Mutation_p.L288Q|CHST8_ENST00000434302.1_Missense_Mutation_p.L288Q	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	288					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.L288Q(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					AAGGCCATCCTGGCCCGGTAC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											72.0	69.0	70.0					19																	34263556		2203	4300	6503	SO:0001583	missense	64377			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.863T>A	19.37:g.34263556T>A	ENSP00000262622:p.Leu288Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	T	17.06	3.291810	0.59976	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.74526	-0.85;-0.85;-0.85	5.15	5.15	0.70609	.	0.171638	0.34067	N	0.004290	T	0.77974	0.4211	L	0.31371	0.925	0.36570	D	0.872947	D	0.64830	0.994	D	0.66351	0.943	T	0.83328	-0.0014	10	0.59425	D	0.04	-25.9874	14.1557	0.65417	0.0:0.0:0.0:1.0	.	288	Q9H2A9	CHST8_HUMAN	Q	288	ENSP00000392604:L288Q;ENSP00000393879:L288Q;ENSP00000262622:L288Q	ENSP00000262622:L288Q	L	+	2	0	CHST8	38955396	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	6.248000	0.72418	1.945000	0.56424	0.247000	0.18012	CTG		0.657	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1		NM_022467	
CLIP4	79745	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	29383260	29383260	+	Silent	SNP	C	C	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr2:29383260C>T	ENST00000320081.5	+	12	1716	c.1461C>T	c.(1459-1461)ctC>ctT	p.L487L	CLIP4_ENST00000401617.2_Silent_p.L380L|CLIP4_ENST00000404424.1_Silent_p.L487L|CLIP4_ENST00000401605.1_Silent_p.L487L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	487								p.L487L(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AACTCCGCCTCGGAGAGAGAG	0.488																																																	1	Substitution - coding silent(1)	kidney(1)											106.0	100.0	102.0					2																	29383260		2203	4300	6503	SO:0001819	synonymous_variant	79745			AK024722	CCDS1770.1, CCDS74502.1	2p23	2013-01-10	2007-01-04	2007-01-04	ENSG00000115295	ENSG00000115295		"""Ankyrin repeat domain containing"""	26108	protein-coding gene	gene with protein product			"""restin-like 2"""	RSNL2			Standard	XM_005264562		Approved	FLJ21069	uc002rmv.3	Q8N3C7	OTTHUMG00000097837	ENST00000320081.5:c.1461C>T	2.37:g.29383260C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0AV10|B2RMQ3|B7Z7N8|Q7Z4U3|Q96BR7|Q96MA5|Q9H7C0	Silent	SNP	ENST00000320081.5	37	CCDS1770.1																																																																																				0.488	CLIP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215123.2		NM_024692	
CORO2B	10391	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	69006276	69006276	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr15:69006276delA	ENST00000566799.1	+	6	690	c.661delA	c.(661-663)aaafs	p.K221fs	CORO2B_ENST00000540068.1_Frame_Shift_Del_p.K216fs|CORO2B_ENST00000261861.5_Frame_Shift_Del_p.K216fs|CORO2B_ENST00000543950.1_Frame_Shift_Del_p.K216fs			Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	221					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|membrane (GO:0016020)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGCCAACTGCAAAAACCACAG	0.567																																																	0													79.0	64.0	69.0					15																	69006276		2200	4298	6498	SO:0001589	frameshift_variant	10391			AB010098	CCDS53952.1, CCDS10229.2	15q22.31	2013-01-10	2001-11-28		ENSG00000103647	ENSG00000103647		"""Coronins"", ""WD repeat domain containing"""	2256	protein-coding gene	gene with protein product	"""clipin C"", ""coronin, actin-binding, 2B"""	605002	"""coronin, actin-binding protein, 2B"""			10224093, 10231032	Standard	NM_001190456		Approved	ClipinC, KIAA0925	uc021spj.1	Q9UQ03	OTTHUMG00000133288	ENST00000566799.1:c.661delA	15.37:g.69006276delA	ENSP00000454783:p.Lys221fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K0W3|O94767|Q8TAN1	Frame_Shift_Del	DEL	ENST00000566799.1	37	CCDS10229.2																																																																																				0.567	CORO2B-203	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_006091	
DCAF5	8816	broad.mit.edu;hgsc.bcm.edu	37	14	69589045	69589045	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr14:69589045T>C	ENST00000341516.5	-	2	394	c.247A>G	c.(247-249)Atg>Gtg	p.M83V	DCAF5_ENST00000557386.1_Missense_Mutation_p.M83V|DCAF5_ENST00000556847.1_Start_Codon_SNP_p.M1V|DCAF5_ENST00000554215.1_Start_Codon_SNP_p.M1V|DCAF5_ENST00000389997.6_Missense_Mutation_p.M83V	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	83					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.M83V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GCTTGTTCCATGTGCCATAGC	0.478																																																	1	Substitution - Missense(1)	kidney(1)											131.0	112.0	119.0					14																	69589045		2203	4300	6503	SO:0001583	missense	8816			AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.247A>G	14.37:g.69589045T>C	ENSP00000341351:p.Met83Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089499	0.36855	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386;ENST00000389997;ENST00000554681	T;T;T;T;T;T	0.71103	1.74;-0.54;-0.54;1.74;1.74;-0.03	5.67	4.52	0.55395	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.042023	0.85682	N	0.000000	T	0.50171	0.1600	N	0.24115	0.695	0.47584	D	0.999462	B;B;B;B	0.16166	0.0;0.002;0.016;0.01	B;B;B;B	0.11329	0.001;0.001;0.006;0.004	T	0.41233	-0.9520	10	0.02654	T	1	-6.0144	10.2687	0.43470	0.0:0.0748:0.0:0.9252	.	1;83;83;83	G3V3S1;Q8TBB7;G3V4J7;Q96JK2	.;.;.;DCAF5_HUMAN	V	83;1;1;83;83;1	ENSP00000341351:M83V;ENSP00000451551:M1V;ENSP00000452052:M1V;ENSP00000451845:M83V;ENSP00000374647:M83V;ENSP00000451394:M1V	ENSP00000341351:M83V	M	-	1	0	DCAF5	68658798	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	5.772000	0.68889	0.979000	0.38497	-0.256000	0.11100	ATG		0.478	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2		NM_003861	
EGFR	1956	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	55269438	55269438	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr7:55269438G>A	ENST00000275493.2	+	26	3302	c.3125G>A	c.(3124-3126)aGc>aAc	p.S1042N	EGFR_ENST00000454757.2_Missense_Mutation_p.S989N|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.S997N	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1042					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.S1042N(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGTGCAACCAGCAACAATTCC	0.448		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	1	Substitution - Missense(1)	kidney(1)											174.0	158.0	163.0					7																	55269438		2203	4300	6503	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3125G>A	7.37:g.55269438G>A	ENSP00000275493:p.Ser1042Asn	Somatic		WXS	Illumina HiSeq	Phase_I	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820688	0.50633	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.74842	-0.88;-0.84;-0.84	6.06	6.06	0.98353	.	0.674999	0.16864	N	0.196399	T	0.80423	0.4620	M	0.80847	2.515	0.43326	D	0.995359	P;P	0.45594	0.704;0.862	B;P	0.44477	0.296;0.451	T	0.79460	-0.1794	10	0.36615	T	0.2	.	19.1882	0.93653	0.0:0.0:1.0:0.0	.	997;1042	Q504U8;P00533	.;EGFR_HUMAN	N	997;912;1042;989	ENSP00000415559:S997N;ENSP00000275493:S1042N;ENSP00000395243:S989N	ENSP00000275493:S1042N	S	+	2	0	EGFR	55236932	1.000000	0.71417	1.000000	0.80357	0.108000	0.19459	6.371000	0.73119	2.879000	0.98667	0.650000	0.86243	AGC		0.448	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2		NM_005228	
EPS8	2059	hgsc.bcm.edu	37	12	15784537	15784539	+	In_Frame_Del	DEL	GGA	GGA	-	rs138254263		TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	GGA	GGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:15784537_15784539delGGA	ENST00000281172.5	-	18	2317_2319	c.1881_1883delTCC	c.(1879-1884)cctcca>cca	p.627_628PP>P	EPS8_ENST00000543612.1_In_Frame_Del_p.627_628PP>P|EPS8_ENST00000542903.1_In_Frame_Del_p.367_368PP>P|EPS8_ENST00000540613.1_In_Frame_Del_p.367_368PP>P|EPS8_ENST00000543523.1_In_Frame_Del_p.627_628PP>P	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	627	Pro-rich.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)	p.P627P(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AGCTGGTGTTGGAGGAGGTGATG	0.448																																																	1	Substitution - coding silent(1)	skin(1)																																								SO:0001651	inframe_deletion	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1881_1883delTCC	12.37:g.15784540_15784542delGGA	ENSP00000281172:p.Pro628del	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	In_Frame_Del	DEL	ENST00000281172.5	37	CCDS31753.1																																																																																				0.448	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			
FKBP15	23307	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	115932898	115932898	+	Silent	SNP	G	G	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr9:115932898G>T	ENST00000238256.3	-	25	2787	c.2670C>A	c.(2668-2670)atC>atA	p.I890I		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	890					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.I890I(1)|p.I915I(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCTGGTTCATGATCTTCTTGA	0.428																																																	2	Substitution - coding silent(2)	kidney(2)											176.0	169.0	171.0					9																	115932898		1938	4145	6083	SO:0001819	synonymous_variant	23307			AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2670C>A	9.37:g.115932898G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Silent	SNP	ENST00000238256.3	37	CCDS48007.1																																																																																				0.428	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_015258	
GLT8D2	83468	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	104390596	104390596	+	Silent	SNP	A	A	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:104390596A>G	ENST00000360814.4	-	8	922	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	GLT8D2_ENST00000548660.1_Silent_p.L173L|GLT8D2_ENST00000546436.1_Silent_p.L173L	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	173						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L173L(1)		kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CCCAGGGCCAAGGTGGTGTCA	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											97.0	99.0	98.0					12																	104390596		2203	4300	6503	SO:0001819	synonymous_variant	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.517T>C	12.37:g.104390596A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q96KA2	Silent	SNP	ENST00000360814.4	37	CCDS9096.1																																																																																				0.478	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407371.1		NM_031302	
GTF2E2	2961	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	30492585	30492585	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr8:30492585C>G	ENST00000355904.4	-	3	504	c.222G>C	c.(220-222)aaG>aaC	p.K74N		NM_002095.4	NP_002086.1	P29084	T2EB_HUMAN	general transcription factor IIE, polypeptide 2, beta 34kDa	74					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIE complex (GO:0005673)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.K74N(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.113)|Kidney(114;0.135)		GAACACCAAACTTATATCCAG	0.333																																																	1	Substitution - Missense(1)	kidney(1)											92.0	86.0	88.0					8																	30492585		2202	4298	6500	SO:0001583	missense	2961			BC030572	CCDS6078.1	8p12	2010-03-23	2002-08-29		ENSG00000197265	ENSG00000197265		"""General transcription factors"""	4651	protein-coding gene	gene with protein product		189964	"""general transcription factor IIE, polypeptide 2 (beta subunit, 34kD)"""			1956404	Standard	NM_002095		Approved	TFIIE-B, FE, TF2E2	uc003xig.3	P29084	OTTHUMG00000163934	ENST00000355904.4:c.222G>C	8.37:g.30492585C>G	ENSP00000348168:p.Lys74Asn	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSV2|Q9H2B9	Missense_Mutation	SNP	ENST00000355904.4	37	CCDS6078.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164210	0.38217	.	.	ENSG00000197265	ENST00000355904;ENST00000518599;ENST00000518445	T;T;T	0.45668	0.89;0.89;0.89	6.17	1.97	0.26223	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor TFIIE beta subunit, DNA-binding domain (2);	0.043006	0.85682	D	0.000000	T	0.30293	0.0760	L	0.39085	1.19	0.54753	D	0.999987	B	0.23735	0.09	B	0.29267	0.1	T	0.05241	-1.0897	10	0.24483	T	0.36	-17.1533	8.4788	0.33030	0.0:0.6279:0.0:0.3721	.	74	P29084	T2EB_HUMAN	N	74	ENSP00000348168:K74N;ENSP00000429921:K74N;ENSP00000429312:K74N	ENSP00000348168:K74N	K	-	3	2	GTF2E2	30612127	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	1.444000	0.35068	0.498000	0.27948	-0.137000	0.14449	AAG		0.333	GTF2E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376459.2		NM_002095	
INPP4B	8821	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	143081662	143081662	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr4:143081662delA	ENST00000513000.1	-	18	1845	c.1412delT	c.(1411-1413)ttafs	p.L471fs	INPP4B_ENST00000509777.1_Frame_Shift_Del_p.L471fs|INPP4B_ENST00000262992.4_Frame_Shift_Del_p.L471fs|INPP4B_ENST00000508116.1_Frame_Shift_Del_p.L471fs|INPP4B_ENST00000308502.4_Frame_Shift_Del_p.L471fs	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	471					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTAGAGTGCTAAAAGAGCACT	0.488																																																	0													102.0	89.0	93.0					4																	143081662		2203	4300	6503	SO:0001589	frameshift_variant	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1412delT	4.37:g.143081662delA	ENSP00000425487:p.Leu471fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Frame_Shift_Del	DEL	ENST00000513000.1	37	CCDS3757.1																																																																																				0.488	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1		NM_003866	
KCNH5	27133	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	63447836	63447836	+	Silent	SNP	A	A	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr14:63447836A>T	ENST00000322893.7	-	6	964	c.696T>A	c.(694-696)gtT>gtA	p.V232V	KCNH5_ENST00000420622.2_Silent_p.V232V|KCNH5_ENST00000394964.2_Silent_p.V174V|KCNH5_ENST00000394968.1_Silent_p.V174V	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	232					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.V232V(1)|p.V174V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CATTATAAGGAACCATAATGG	0.378																																																	2	Substitution - coding silent(2)	kidney(2)											78.0	79.0	79.0					14																	63447836		2203	4300	6503	SO:0001819	synonymous_variant	27133			U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.696T>A	14.37:g.63447836A>T		Somatic		WXS	Illumina HiSeq	Phase_I	C9JP98	Silent	SNP	ENST00000322893.7	37	CCDS9756.1																																																																																				0.378	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1		NM_139318	
AP5Z1	9907	broad.mit.edu;ucsc.edu	37	7	4824670	4824670	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr7:4824670A>C	ENST00000348624.4	+	7	1016	c.922A>C	c.(922-924)Agt>Cgt	p.S308R	AP5Z1_ENST00000401897.1_Missense_Mutation_p.S308R	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	308					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.S1019R(1)|p.S152R(1)									CATTGAGCAAAGTAACCGACG	0.682																																																	2	Substitution - Missense(2)	kidney(2)											29.0	34.0	32.0					7																	4824670		1972	4142	6114	SO:0001583	missense	0			AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.922A>C	7.37:g.4824670A>C	ENSP00000297562:p.Ser308Arg	Somatic		WXS	Illumina GAIIx	Phase_I	Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.336554	0.60963	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.65916	-0.18;0.53	4.88	4.88	0.63580	.	0.264857	0.42964	D	0.000632	T	0.78635	0.4314	M	0.81942	2.565	0.48395	D	0.999644	D	0.76494	0.999	D	0.69824	0.966	T	0.81669	-0.0828	10	0.62326	D	0.03	.	13.6621	0.62374	1.0:0.0:0.0:0.0	.	308	O43299	K0415_HUMAN	R	308	ENSP00000297562:S308R;ENSP00000384980:S308R	ENSP00000297562:S308R	S	+	1	0	KIAA0415	4791196	1.000000	0.71417	0.890000	0.34922	0.476000	0.33039	4.522000	0.60539	1.832000	0.53329	0.459000	0.35465	AGT		0.682	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			
MAP10	54627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	232942950	232942950	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr1:232942950G>C	ENST00000418460.1	+	1	2308	c.2181G>C	c.(2179-2181)gaG>gaC	p.E727D		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	585	Ser-rich.				cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)	p.E727D(2)									TTTTTGATGAGCCCAGCACAA	0.338																																																	2	Substitution - Missense(2)	kidney(2)											43.0	41.0	42.0					1																	232942950		1838	4088	5926	SO:0001583	missense	54627			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2181G>C	1.37:g.232942950G>C	ENSP00000403208:p.Glu727Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	ENST00000418460.1	37	CCDS44334.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.594672	0.00857	.	.	ENSG00000212916	ENST00000418460	.	.	.	5.97	-3.97	0.04094	.	0.829517	0.09768	N	0.758386	T	0.06690	0.0171	N	0.01003	-1.06	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28459	-1.0043	9	0.10111	T	0.7	-0.0931	2.4498	0.04515	0.1598:0.1514:0.4051:0.2837	.	585	Q9P2G4	K1383_HUMAN	D	727	.	ENSP00000403208:E727D	E	+	3	2	KIAA1383	231009573	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-1.024000	0.03603	-1.157000	0.02815	-1.482000	0.00985	GAG		0.338	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3		NM_019090	
KRTAP5-9	3846	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	71260168	71260168	+	Silent	SNP	C	C	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr11:71260168C>A	ENST00000528743.2	+	1	703	c.465C>A	c.(463-465)tcC>tcA	p.S155S		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	155	8 X 4 AA repeats of C-C-X-P.				epidermis development (GO:0008544)	keratin filament (GO:0045095)		p.S155S(1)		kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CCTGCTGCTCCCAGTCCAGAT	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											117.0	121.0	120.0					11																	71260168		2200	4293	6493	SO:0001819	synonymous_variant	3846			AB126078	CCDS53677.1	11q13.4	2008-02-05				ENSG00000254997		"""Keratin associated proteins"""	23604	protein-coding gene	gene with protein product		148021		KRN1		15144888	Standard	NM_005553		Approved	KRTAP5.9, KRTAP5-1	uc001oqs.1	P26371		ENST00000528743.2:c.465C>A	11.37:g.71260168C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q14564|Q3MIP8	Silent	SNP	ENST00000528743.2	37	CCDS53677.1																																																																																				0.577	KRTAP5-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393901.2			
Unknown	0	broad.mit.edu	37	13	19420016	19420016	+	IGR	SNP	C	C	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr13:19420016C>G								LINC00418 (126147 upstream) : RP11-38M15.11 (13950 downstream)																							AGACTATAATCTTTATAAAAA	0.269																																																	0																																										SO:0001628	intergenic_variant	0																															13.37:g.19420016C>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.269									
MACF1	23499	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	39823255	39823255	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr1:39823255A>G	ENST00000372915.3	+	44	11735	c.11648A>G	c.(11647-11649)gAg>gGg	p.E3883G	MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.E1816G|MACF1_ENST00000545844.1_Missense_Mutation_p.E1816G|MACF1_ENST00000567887.1_Missense_Mutation_p.E3915G|MACF1_ENST00000361689.2_Missense_Mutation_p.E1816G|MACF1_ENST00000564288.1_Missense_Mutation_p.E3878G|MACF1_ENST00000289893.4_Missense_Mutation_p.E2318G|MACF1_ENST00000539005.1_Missense_Mutation_p.E1816G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3883					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E1816G(1)|p.E2318G(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTCAGGATGAGTTGCAGAAA	0.498																																																	2	Substitution - Missense(2)	kidney(2)											66.0	67.0	67.0					1																	39823255		2203	4300	6503	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11648A>G	1.37:g.39823255A>G	ENSP00000362006:p.Glu3883Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.5|28.5	4.929346|4.929346	0.92389|0.92389	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893|ENST00000372925	T;T;T;T;T;T;T|.	0.36157|.	1.27;1.27;1.27;1.27;1.27;1.27;1.27|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|.	0.77818|.	0.4187|.	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.996;0.998|.	T|.	0.78638|.	-0.2126|.	10|.	0.87932|.	D|.	0|.	.|.	16.6288|16.6288	0.85011|0.85011	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	3883;1816;1816;1781|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	G|W	1816;3883;1816;1816;1816;1965;2318|949	ENSP00000439537:E1816G;ENSP00000362006:E3883G;ENSP00000354573:E1816G;ENSP00000313438:E1816G;ENSP00000444364:E1816G;ENSP00000437059:E1965G;ENSP00000289893:E2318G|.	ENSP00000289893:E2318G|.	E|X	+|+	2|3	0|0	MACF1|MACF1	39595842|39595842	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	8.950000|8.950000	0.93019|0.93019	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	GAG|TGA		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1		NM_033044	
MAGEC1	9947	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	140995587	140995587	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chrX:140995587G>C	ENST00000285879.4	+	4	2683	c.2397G>C	c.(2395-2397)caG>caC	p.Q799H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	799								p.Q799H(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGTCCTCAGAGTCCTCCTG	0.567										HNSCC(15;0.026)																																							2	Substitution - Missense(2)	lung(1)|kidney(1)											131.0	142.0	138.0					X																	140995587		2203	4300	6503	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2397G>C	X.37:g.140995587G>C	ENSP00000285879:p.Gln799His	Somatic		WXS	Illumina HiSeq	Phase_I	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	7.441	0.640649	0.14386	.	.	ENSG00000155495	ENST00000285879	T	0.02258	4.37	1.2	-0.188	0.13264	.	.	.	.	.	T	0.01661	0.0053	N	0.19112	0.55	0.09310	N	1	P	0.39520	0.676	B	0.36030	0.216	T	0.48103	-0.9064	9	0.66056	D	0.02	.	5.8034	0.18426	0.238:0.0:0.762:0.0	.	799	O60732	MAGC1_HUMAN	H	799	ENSP00000285879:Q799H	ENSP00000285879:Q799H	Q	+	3	2	MAGEC1	140823253	0.029000	0.19370	0.001000	0.08648	0.028000	0.11728	0.378000	0.20569	-0.338000	0.08413	0.284000	0.19432	CAG		0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1		NM_005462	
MATR3	9782	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138643267	138643267	+	Silent	SNP	T	T	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr5:138643267T>C	ENST00000394805.3	+	2	498	c.163T>C	c.(163-165)Tta>Cta	p.L55L	MATR3_ENST00000361059.2_Silent_p.L55L|MATR3_ENST00000509990.1_Silent_p.L55L|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502929.1_Silent_p.L55L|MATR3_ENST00000394800.2_Silent_p.L55L|MATR3_ENST00000510056.1_Silent_p.L55L|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	55					cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)	p.L55L(1)		breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCTTGCTAGTTTAATGAATCT	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											143.0	134.0	137.0					5																	138643267		2203	4300	6503	SO:0001819	synonymous_variant	9782			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.163T>C	5.37:g.138643267T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Silent	SNP	ENST00000394805.3	37	CCDS4210.1																																																																																				0.438	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251324.2		NM_018834	
MCAM	4162	hgsc.bcm.edu;ucsc.edu	37	11	119182813	119182813	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr11:119182813delG	ENST00000264036.4	-	9	1106	c.1092delC	c.(1090-1092)accfs	p.T364fs	MCAM_ENST00000392814.1_Frame_Shift_Del_p.T313fs|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	364	Ig-like C2-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTGCCTCACAGGTCAGGGTGA	0.637																																																	0													45.0	45.0	45.0					11																	119182813		2199	4295	6494	SO:0001589	frameshift_variant	4162			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.1092delC	11.37:g.119182813delG	ENSP00000264036:p.Thr364fs	Somatic		WXS	Illumina HiSeq	Phase_I	O95812|Q59E86|Q6PHR3|Q6ZTR2	Frame_Shift_Del	DEL	ENST00000264036.4	37	CCDS31690.1																																																																																				0.637	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388332.2			
MRPS26	64949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	3028493	3028493	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr20:3028493G>C	ENST00000380325.3	+	4	720	c.596G>C	c.(595-597)aGg>aCg	p.R199T		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	199					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R199T(1)		kidney(1)|lung(1)	2						CTGGTGGTCAGGCCACAACGC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											56.0	47.0	50.0					20																	3028493		2203	4300	6503	SO:0001583	missense	64949			AB051354	CCDS13043.1	20p13	2012-09-13	2004-09-22		ENSG00000125901	ENSG00000125901		"""Mitochondrial ribosomal proteins / small subunits"""	14045	protein-coding gene	gene with protein product		611988	"""chromosome 20 open reading frame 193"""	C20orf193		11543634	Standard	NM_030811		Approved	MRP-S13, MRP-S26, RPMS13, dJ534B8.3	uc002whs.3	Q9BYN8	OTTHUMG00000031721	ENST00000380325.3:c.596G>C	20.37:g.3028493G>C	ENSP00000369682:p.Arg199Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q96Q58	Missense_Mutation	SNP	ENST00000380325.3	37	CCDS13043.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.558725	0.27827	.	.	ENSG00000125901	ENST00000380325	.	.	.	5.74	0.423	0.16463	.	0.276491	0.33813	N	0.004538	T	0.29817	0.0745	L	0.45581	1.43	0.09310	N	1	B	0.18166	0.026	B	0.19391	0.025	T	0.19031	-1.0318	9	0.52906	T	0.07	-7.4077	4.1605	0.10282	0.337:0.3244:0.3386:0.0	.	199	Q9BYN8	RT26_HUMAN	T	199	.	ENSP00000369682:R199T	R	+	2	0	MRPS26	2976493	0.090000	0.21635	0.436000	0.26797	0.483000	0.33249	0.114000	0.15520	0.078000	0.16900	0.591000	0.81541	AGG		0.587	MRPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077692.2		NM_030811	
MUC16	94025	broad.mit.edu;ucsc.edu	37	19	9077024	9077024	+	Silent	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr19:9077024G>A	ENST00000397910.4	-	3	10625	c.10422C>T	c.(10420-10422)ctC>ctT	p.L3474L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3475	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L3474L(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGATTGGTGAGGCTTGTAA	0.488																																																	2	Substitution - coding silent(2)	kidney(2)											118.0	114.0	115.0					19																	9077024		2085	4226	6311	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10422C>T	19.37:g.9077024G>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
NEK11	79858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	130992364	130992364	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr3:130992364G>A	ENST00000510769.1	+	13	1602	c.1349G>A	c.(1348-1350)gGa>gAa	p.G450E	NEK11_ENST00000510688.1_Intron|NEK11_ENST00000383366.4_Missense_Mutation_p.G555E|NEK11_ENST00000429253.2_Missense_Mutation_p.G555E|NEK11_ENST00000412440.2_Missense_Mutation_p.G371E|NEK11_ENST00000508196.1_Missense_Mutation_p.G555E					NIMA-related kinase 11									p.G555E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATGTCCCCAGGACCACCAATT	0.493																																																	1	Substitution - Missense(1)	kidney(1)											158.0	119.0	132.0					3																	130992364		2203	4300	6503	SO:0001583	missense	79858			AK027148	CCDS3069.1, CCDS46915.1, CCDS54639.1	3q22.1	2012-11-15	2012-11-15		ENSG00000114670	ENSG00000114670			18593	protein-coding gene	gene with protein product		609779	"""NIMA (never in mitosis gene a)- related kinase 11"""				Standard	NM_024800		Approved	FLJ23495	uc003eny.3	Q8NG66	OTTHUMG00000159654	ENST00000510769.1:c.1349G>A	3.37:g.130992364G>A	ENSP00000421549:p.Gly450Glu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000510769.1	37		.	.	.	.	.	.	.	.	.	.	G	5.389	0.256956	0.10239	.	.	ENSG00000114670	ENST00000510769;ENST00000429253;ENST00000383366;ENST00000412440;ENST00000508196	T;T;T;T;T	0.74947	-0.72;-0.65;-0.65;-0.89;-0.65	5.73	0.57	0.17347	.	0.356243	0.20309	N	0.094878	T	0.61350	0.2340	L	0.53249	1.67	0.18873	N	0.999989	B;B;B	0.23249	0.082;0.049;0.027	B;B;B	0.19946	0.027;0.012;0.012	T	0.50709	-0.8796	10	0.41790	T	0.15	.	2.4515	0.04519	0.2118:0.1283:0.5274:0.1325	.	450;371;555	E9PHI8;B4DDN2;Q8NG66	.;.;NEK11_HUMAN	E	450;555;555;371;555	ENSP00000421549:G450E;ENSP00000397180:G555E;ENSP00000372857:G555E;ENSP00000411888:G371E;ENSP00000421851:G555E	ENSP00000372857:G555E	G	+	2	0	NEK11	132475054	1.000000	0.71417	0.004000	0.12327	0.012000	0.07955	1.698000	0.37794	0.076000	0.16826	-0.259000	0.10710	GGA		0.493	NEK11-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000356757.1		NM_024800	
NUP98	4928	broad.mit.edu;hgsc.bcm.edu	37	11	3797144	3797144	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr11:3797144C>G	ENST00000324932.7	-	5	883	c.463G>C	c.(463-465)Gct>Cct	p.A155P	NUP98_ENST00000359171.4_Missense_Mutation_p.A155P|NUP98_ENST00000397007.4_Missense_Mutation_p.A155P|NUP98_ENST00000397004.4_Missense_Mutation_p.A155P|NUP98_ENST00000355260.3_Missense_Mutation_p.A155P	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	155	FG repeats 1.|Gly/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)	p.A155P(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTAGGAGCAGCTGTAAAACTA	0.408			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	1	Substitution - Missense(1)	kidney(1)											120.0	128.0	125.0					11																	3797144		2201	4298	6499	SO:0001583	missense	4928			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.463G>C	11.37:g.3797144C>G	ENSP00000316032:p.Ala155Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	ENST00000324932.7	37	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.399391	0.83120	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007;ENST00000532475	.	.	.	5.67	3.78	0.43462	.	0.128387	0.51477	D	0.000089	T	0.65069	0.2656	L	0.41961	1.31	0.45139	D	0.998153	D;D;D;D;D	0.89917	1.0;0.996;0.99;1.0;1.0	D;P;P;D;D	0.76575	0.972;0.857;0.802;0.988;0.988	T	0.61019	-0.7147	9	0.27082	T	0.32	.	11.6111	0.51059	0.0:0.8517:0.0:0.1483	.	155;155;155;155;155	P52948;P52948-3;P52948-4;P52948-2;P52948-5	NUP98_HUMAN;.;.;.;.	P	155;155;155;155;155;118	.	ENSP00000316032:A155P	A	-	1	0	NUP98	3753720	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.722000	0.38042	1.410000	0.46936	0.655000	0.94253	GCT		0.408	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3		NM_016320	
OR4K2	390431	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	20344686	20344686	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr14:20344686C>G	ENST00000298642.2	+	1	296	c.260C>G	c.(259-261)aCa>aGa	p.T87R		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	87						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T87R(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATTACCTAACAGGTCACAAA	0.413																																																	1	Substitution - Missense(1)	kidney(1)											237.0	236.0	236.0					14																	20344686		2203	4300	6503	SO:0001583	missense	390431				CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.260C>G	14.37:g.20344686C>G	ENSP00000298642:p.Thr87Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNK8|Q6IFA5	Missense_Mutation	SNP	ENST00000298642.2	37	CCDS32023.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.158264	0.00321	.	.	ENSG00000165762	ENST00000298642	T	0.00468	7.22	5.27	2.17	0.27698	GPCR, rhodopsin-like superfamily (1);	0.523740	0.16304	N	0.220301	T	0.00178	0.0005	N	0.11673	0.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38394	-0.9663	10	0.02654	T	1	.	5.0431	0.14469	0.0:0.4793:0.3288:0.1918	.	87	Q8NGD2	OR4K2_HUMAN	R	87	ENSP00000298642:T87R	ENSP00000298642:T87R	T	+	2	0	OR4K2	19414526	0.000000	0.05858	0.897000	0.35233	0.439000	0.31926	-0.543000	0.06084	0.714000	0.32081	0.563000	0.77884	ACA		0.413	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			
OR4K1	79544	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	20403917	20403917	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr14:20403917T>C	ENST00000285600.4	+	1	151	c.92T>C	c.(91-93)tTc>tCc	p.F31S		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F31S(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTGCCATCTTCTCTATAGTC	0.378																																																	1	Substitution - Missense(1)	kidney(1)											345.0	377.0	366.0					14																	20403917		2203	4300	6503	SO:0001583	missense	79544				CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.92T>C	14.37:g.20403917T>C	ENSP00000285600:p.Phe31Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	13.80	2.344102	0.41498	.	.	ENSG00000155249	ENST00000285600	T	0.04551	3.6	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000013	T	0.18002	0.0432	M	0.75447	2.3	0.24403	N	0.994698	D	0.89917	1.0	D	0.97110	1.0	T	0.09100	-1.0690	10	0.22109	T	0.4	.	12.2701	0.54702	0.0:0.0:0.0:1.0	.	31	Q8NGD4	OR4K1_HUMAN	S	31	ENSP00000285600:F31S	ENSP00000285600:F31S	F	+	2	0	OR4K1	19473757	0.976000	0.34144	0.844000	0.33320	0.382000	0.30200	4.906000	0.63293	2.008000	0.58898	0.459000	0.35465	TTC		0.378	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			
OR51I2	390064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5475160	5475160	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr11:5475160G>A	ENST00000341449.2	+	1	523	c.442G>A	c.(442-444)Gca>Aca	p.A148T	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	148					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A148T(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTTTAGGTGCAGCTGCTCG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											165.0	151.0	156.0					11																	5475160		2201	4297	6498	SO:0001583	missense	390064			BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.442G>A	11.37:g.5475160G>A	ENSP00000341987:p.Ala148Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	G	6.256	0.415393	0.11870	.	.	ENSG00000187918	ENST00000341449	T	0.37584	1.19	5.58	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.106561	0.41605	D	0.000842	T	0.29061	0.0722	L	0.37630	1.12	0.09310	N	1	B	0.20164	0.042	B	0.28385	0.089	T	0.26326	-1.0106	10	0.62326	D	0.03	.	8.5807	0.33626	0.1751:0.0:0.8249:0.0	.	148	Q9H344	O51I2_HUMAN	T	148	ENSP00000341987:A148T	ENSP00000341987:A148T	A	+	1	0	OR51I2	5431736	0.000000	0.05858	0.094000	0.20943	0.086000	0.17979	-0.437000	0.06914	1.605000	0.50152	0.655000	0.94253	GCA		0.498	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1		NM_001004754	
PBRM1	55193	hgsc.bcm.edu;ucsc.edu	37	3	52643368	52643389	+	Frame_Shift_Del	DEL	TGCTCTTGAAATAAATCAAGCC	TGCTCTTGAAATAAATCAAGCC	-	rs183157690		TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	TGCTCTTGAAATAAATCAAGCC	TGCTCTTGAAATAAATCAAGCC	TGCTCTTGAAATAAATCAAGCC	-	TGCTCTTGAAATAAATCAAGCC	TGCTCTTGAAATAAATCAAGCC	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr3:52643368_52643389delTGCTCTTGAAATAAATCAAGCC	ENST00000296302.7	-	16	2508_2529	c.2507_2528delGGCTTGATTTATTTCAAGAGCA	c.(2506-2529)cggcttgatttatttcaagagcatfs	p.RLDLFQEH836fs	PBRM1_ENST00000409114.3_Frame_Shift_Del_p.RLDLFQEH851fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.RLDLFQEH836fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.RLDLFQEH851fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.RLDLFQEH804fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.RLDLFQEH836fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.RLDLFQEH836fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.RLDLFQEH836fs			Q86U86	PB1_HUMAN	polybromo 1	836	Bromo 6. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCAAACATATGCTCTTGAAATAAATCAAGCCGACGGTAGCG	0.351			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	0																																										SO:0001589	frameshift_variant	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.2507_2528delGGCTTGATTTATTTCAAGAGCA	3.37:g.52643368_52643389delTGCTCTTGAAATAAATCAAGCC	ENSP00000296302:p.Arg836fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37																																																																																					0.351	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
PDE6C	5146	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	95415548	95415548	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr10:95415548G>A	ENST00000371447.3	+	16	2105	c.1967G>A	c.(1966-1968)cGg>cAg	p.R656Q		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	656					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)	p.R656Q(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CTAAATAAGCGGCAGTTTGAA	0.343																																																	1	Substitution - Missense(1)	kidney(1)											151.0	152.0	152.0					10																	95415548		2203	4300	6503	SO:0001583	missense	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.1967G>A	10.37:g.95415548G>A	ENSP00000360502:p.Arg656Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A6NCR6|Q5VY29	Missense_Mutation	SNP	ENST00000371447.3	37	CCDS7429.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751650	0.69533	.	.	ENSG00000095464	ENST00000371447	T	0.76060	-0.99	5.41	5.41	0.78517	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.094597	0.85682	D	0.000000	T	0.66733	0.2819	L	0.43152	1.355	0.58432	D	0.999999	P	0.38711	0.643	B	0.29353	0.101	T	0.70956	-0.4731	10	0.56958	D	0.05	.	18.9907	0.92791	0.0:0.0:1.0:0.0	.	656	P51160	PDE6C_HUMAN	Q	656	ENSP00000360502:R656Q	ENSP00000360502:R656Q	R	+	2	0	PDE6C	95405538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.040000	0.70980	2.826000	0.97356	0.561000	0.74099	CGG		0.343	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049437.1		NM_006204	
PDLIM5	10611	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	95583632	95583632	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr4:95583632G>A	ENST00000317968.4	+	12	1781	c.1645G>A	c.(1645-1647)Gac>Aac	p.D549N	PDLIM5_ENST00000514743.1_Missense_Mutation_p.D578N|PDLIM5_ENST00000542407.1_Missense_Mutation_p.D427N|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000437932.1_Missense_Mutation_p.D440N	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	549	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)	p.D549N(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AGAAGCTGGTGACATGTTCCT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											158.0	152.0	154.0					4																	95583632		2203	4300	6503	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1645G>A	4.37:g.95583632G>A	ENSP00000321746:p.Asp549Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	CCDS3641.1	.	.	.	.	.	.	.	.	.	.	G	36	5.706106	0.96812	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27	5.93	5.93	0.95920	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.94581	0.8254	M	0.85777	2.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.994	D;D;D;D	0.97110	1.0;1.0;0.999;0.966	D	0.94492	0.7702	10	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	446;578;549;440	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	N	440;549;446;427;578	ENSP00000398469:D440N;ENSP00000321746:D549N;ENSP00000424297:D446N;ENSP00000442187:D427N;ENSP00000424360:D578N	ENSP00000321746:D549N	D	+	1	0	PDLIM5	95802655	1.000000	0.71417	0.984000	0.44739	0.996000	0.88848	9.756000	0.98918	2.826000	0.97356	0.655000	0.94253	GAC		0.413	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1			
PIK3CG	5294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	106508218	106508218	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr7:106508218A>T	ENST00000359195.3	+	2	522	c.212A>T	c.(211-213)aAg>aTg	p.K71M	PIK3CG_ENST00000440650.2_Missense_Mutation_p.K71M|PIK3CG_ENST00000496166.1_Missense_Mutation_p.K71M	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	71	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.K71M(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GAGCAGATGAAGGCCCAGGTG	0.652																																																	1	Substitution - Missense(1)	kidney(1)											26.0	31.0	30.0					7																	106508218		2201	4295	6496	SO:0001583	missense	5294				CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.212A>T	7.37:g.106508218A>T	ENSP00000352121:p.Lys71Met	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	A	17.11	3.305520	0.60305	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.74842	-0.88;-0.88;-0.88	5.64	4.48	0.54585	.	0.043082	0.85682	D	0.000000	T	0.80944	0.4721	M	0.64997	1.995	0.52501	D	0.999951	D	0.60160	0.987	P	0.59012	0.85	T	0.82200	-0.0575	10	0.87932	D	0	-24.9769	11.8359	0.52323	0.9312:0.0:0.0688:0.0	.	71	P48736	PK3CG_HUMAN	M	71	ENSP00000392258:K71M;ENSP00000419260:K71M;ENSP00000352121:K71M	ENSP00000352121:K71M	K	+	2	0	PIK3CG	106295454	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.818000	0.75257	1.067000	0.40740	0.455000	0.32223	AAG		0.652	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			
PPFIA2	8499	broad.mit.edu;hgsc.bcm.edu	37	12	81675111	81675111	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr12:81675111A>G	ENST00000549396.1	-	27	3297	c.3137T>C	c.(3136-3138)gTa>gCa	p.V1046A	PPFIA2_ENST00000541017.1_Missense_Mutation_p.V232A|PPFIA2_ENST00000550359.2_Missense_Mutation_p.V893A|PPFIA2_ENST00000333447.7_Missense_Mutation_p.V1031A|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000443686.3_Missense_Mutation_p.V941A|PPFIA2_ENST00000549325.1_Missense_Mutation_p.V1031A|PPFIA2_ENST00000407050.4_Missense_Mutation_p.V945A|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.V1040A|PPFIA2_ENST00000552948.1_Missense_Mutation_p.V1025A|PPFIA2_ENST00000541570.2_Missense_Mutation_p.V582A|PPFIA2_ENST00000550584.2_Missense_Mutation_p.V1046A	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1046	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)		p.V1046A(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCTTGCATCTACCAAGCATTC	0.393																																																	1	Substitution - Missense(1)	kidney(1)											101.0	96.0	98.0					12																	81675111		1834	4094	5928	SO:0001583	missense	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3137T>C	12.37:g.81675111A>G	ENSP00000450337:p.Val1046Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.432649|4.432649	0.83776|0.83776	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|.	0.52057|.	0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68;0.68|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78065|.	0.4225|.	M|M	0.82517|0.82517	2.595|2.595	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	D|.	0.79108|.	0.992|.	T|.	0.80044|.	-0.1547|.	10|.	0.72032|.	D|.	0.01|.	-24.2106|-24.2106	15.7394|15.7394	0.77876|0.77876	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1046|.	O75334|.	LIPA2_HUMAN|.	A|Q	1046;1031;582;232;945;1057;1031;1040;941;1025|149	ENSP00000450337:V1046A;ENSP00000450298:V1031A;ENSP00000438337:V582A;ENSP00000445532:V232A;ENSP00000385093:V945A;ENSP00000327416:V1031A;ENSP00000449338:V1040A;ENSP00000388373:V941A;ENSP00000447868:V1025A|.	ENSP00000327416:V1031A|.	V|X	-|-	2|1	0|0	PPFIA2|PPFIA2	80199242|80199242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	9.221000|9.221000	0.95188|0.95188	2.183000|2.183000	0.69458|0.69458	0.397000|0.397000	0.26171|0.26171	GTA|TAG		0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			
PPP1R9A	55607	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	94881092	94881092	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr7:94881092A>T	ENST00000433881.1	+	10	2881	c.2349A>T	c.(2347-2349)aaA>aaT	p.K783N	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.K783N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.K805N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.K783N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.K783N|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.K783N			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	783	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)		p.K805N(1)|p.K783N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTTCATCAAAAGACAGGAAG	0.343										HNSCC(28;0.073)																																							2	Substitution - Missense(2)	kidney(2)											48.0	51.0	50.0					7																	94881092		2203	4300	6503	SO:0001583	missense	55607			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2349A>T	7.37:g.94881092A>T	ENSP00000398870:p.Lys783Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980545	0.53827	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.19250	2.16;2.22;2.2;2.22;2.18;2.2	5.05	0.00716	0.14070	.	0.201832	0.43579	D	0.000545	T	0.31979	0.0814	L	0.55213	1.73	0.31568	N	0.656621	P;D;D;P;P	0.62365	0.554;0.987;0.991;0.931;0.921	B;P;P;B;B	0.60473	0.258;0.875;0.865;0.444;0.411	T	0.34428	-0.9829	10	0.72032	D	0.01	.	9.5028	0.39028	0.7041:0.0:0.2959:0.0	.	783;783;805;783;783	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	N	805;783;783;783;783;783	ENSP00000405514:K805N;ENSP00000344524:K783N;ENSP00000411342:K783N;ENSP00000398870:K783N;ENSP00000289495:K783N;ENSP00000402893:K783N	ENSP00000289495:K783N	K	+	3	2	PPP1R9A	94719028	1.000000	0.71417	0.998000	0.56505	0.694000	0.40290	0.997000	0.29731	0.060000	0.16281	-0.451000	0.05528	AAA		0.343	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1		NM_001166160	
PTPRK	5796	broad.mit.edu;hgsc.bcm.edu|broad.mit.edu	37	6	128318044	128318045	+	Splice_Site	DNP	AC	AC	GT			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A|C	A|C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr6:128318044_128318045AC>GT	ENST00000368215.3	-	17	2764		c.e17+1		PTPRK_ENST00000368210.3_Splice_Site|PTPRK_ENST00000368207.3_Splice_Site|PTPRK_ENST00000368227.3_Splice_Site|PTPRK_ENST00000368226.4_Splice_Site|PTPRK_ENST00000532331.1_Splice_Site|PTPRK_ENST00000368213.5_Splice_Site			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K						cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.?(3)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATGGGAACTTACATGCTATAAT	0.327																																																	3	Unknown(3)	kidney(3)																																								SO:0001630	splice_region_variant	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2765_2765delinsGT	6.37:g.128318044_128318045delinsGT		Somatic		WXS	Illumina HiSeq|Illumina GAIIx	Phase_I	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Splice_Site	SNP	ENST00000368215.3	37																																																																																					0.327	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			Intron
RBBP6	5930	hgsc.bcm.edu;ucsc.edu	37	16	24551961	24551962	+	Frame_Shift_Ins	INS	-	-	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr16:24551961_24551962insT	ENST00000319715.4	+	1	446_447	c.14_15insT	c.(13-18)cattatfs	p.Y6fs	RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.Y6fs|RBBP6_ENST00000381039.3_Frame_Shift_Ins_p.Y6fs|RBBP6_ENST00000452655.2_Frame_Shift_Ins_p.Y6fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	6	DWNN. {ECO:0000255|PROSITE- ProRule:PRU00612}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCCTGTGTGCATTATAAATTTT	0.416																																																	0																																										SO:0001589	frameshift_variant	5930				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.16dupT	16.37:g.24551963_24551963dupT	ENSP00000317872:p.Tyr6fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Frame_Shift_Ins	INS	ENST00000319715.4	37	CCDS10621.1																																																																																				0.416	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2		NM_006910	
RELB	5971	broad.mit.edu;hgsc.bcm.edu	37	19	45515352	45515352	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr19:45515352G>T	ENST00000221452.8	+	4	472	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	RELB_ENST00000540120.1_Missense_Mutation_p.G108C|RELB_ENST00000505236.1_Missense_Mutation_p.G105C	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	108					antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.G108C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCCGCCTTGGGGCTGCCCCCT	0.776																																																	1	Substitution - Missense(1)	kidney(1)											4.0	4.0	4.0					19																	45515352		1493	3340	4833	SO:0001583	missense	5971			M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.322G>T	19.37:g.45515352G>T	ENSP00000221452:p.Gly108Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q6GTX7|Q9UEI7	Silent	SNP	ENST00000221452.8	37	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965230	0.34659	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.50813	0.73;0.73;0.73	3.38	1.16	0.20824	.	0.785356	0.11062	N	0.603827	T	0.23766	0.0575	N	0.08118	0	0.26319	N	0.977707	B	0.06786	0.001	B	0.04013	0.001	T	0.17684	-1.0361	10	0.59425	D	0.04	-6.709	3.4539	0.07509	0.1401:0.0:0.6086:0.2513	.	105	D6R992	.	C	108;108;105	ENSP00000221452:G108C;ENSP00000445542:G108C;ENSP00000423287:G105C	ENSP00000221452:G108C	G	+	1	0	RELB	50207192	0.004000	0.15560	0.991000	0.47740	0.736000	0.42039	-0.947000	0.03901	0.393000	0.25203	0.462000	0.41574	GGC		0.776	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			
REST	5978	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	57798103	57798103	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr4:57798103A>G	ENST00000309042.7	+	4	3393	c.3079A>G	c.(3079-3081)Agt>Ggt	p.S1027G		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	1027	Interaction with RCOR1.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S1027G(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					GTCAGAGGGTAGTGATGATTC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											82.0	72.0	75.0					4																	57798103		2203	4300	6503	SO:0001583	missense	5978			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.3079A>G	4.37:g.57798103A>G	ENSP00000311816:p.Ser1027Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.235800	0.79800	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.35236	1.32	6.17	6.17	0.99709	.	0.000000	0.56097	D	0.000022	T	0.60287	0.2257	M	0.67953	2.075	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.62530	-0.6835	10	0.87932	D	0	-16.9115	16.4837	0.84171	1.0:0.0:0.0:0.0	.	1004;1027	F8WAN5;Q13127	.;REST_HUMAN	G	1027;1004	ENSP00000311816:S1027G	ENSP00000311816:S1027G	S	+	1	0	REST	57492860	1.000000	0.71417	0.992000	0.48379	0.850000	0.48378	8.399000	0.90197	2.371000	0.80710	0.533000	0.62120	AGT		0.468	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2		NM_005612	
SLC12A3	6559	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	56904064	56904064	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr16:56904064G>T	ENST00000563236.1	+	5	683	c.658G>T	c.(658-660)Ggc>Tgc	p.G220C	SLC12A3_ENST00000438926.2_Missense_Mutation_p.G220C|SLC12A3_ENST00000262502.5_Missense_Mutation_p.G219C|SLC12A3_ENST00000566786.1_Missense_Mutation_p.G219C			P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	220					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:chloride symporter activity (GO:0015378)|transporter activity (GO:0005215)	p.G220C(1)		breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGGCTCCATCGGCCTCATTTT	0.632																																																	1	Substitution - Missense(1)	kidney(1)											75.0	75.0	75.0					16																	56904064		2198	4300	6498	SO:0001583	missense	6559				CCDS10770.1, CCDS45491.1, CCDS58464.1	16q13	2013-07-18	2013-07-18		ENSG00000070915	ENSG00000070915		"""Solute carriers"""	10912	protein-coding gene	gene with protein product		600968				8812482	Standard	NM_000339		Approved	NCCT	uc002ekd.4	P55017	OTTHUMG00000133284	ENST00000563236.1:c.658G>T	16.37:g.56904064G>T	ENSP00000456149:p.Gly220Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8MSJ2|C9JNN9	Missense_Mutation	SNP	ENST00000563236.1	37	CCDS58464.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.962009	0.53400	.	.	ENSG00000070915	ENST00000438926;ENST00000262502	.	.	.	5.26	4.3	0.51218	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.87684	0.6239	H	0.97611	4.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91563	0.5266	9	0.87932	D	0	.	14.0037	0.64449	0.073:0.0:0.927:0.0	.	219;220;220	P55017-3;P55017;P55017-2	.;S12A3_HUMAN;.	C	219;220	.	ENSP00000262502:G220C	G	+	1	0	SLC12A3	55461565	1.000000	0.71417	0.967000	0.41034	0.005000	0.04900	9.751000	0.98889	1.215000	0.43411	0.462000	0.41574	GGC		0.632	SLC12A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432337.1			
SLC22A6	9356	hgsc.bcm.edu	37	11	62744692	62744693	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr11:62744692_62744693insG	ENST00000377871.3	-	9	1794_1795	c.1528_1529insC	c.(1528-1530)cagfs	p.Q510fs	SLC22A6_ENST00000421062.2_Frame_Shift_Ins_p.Q466fs|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000458333.2_Frame_Shift_Ins_p.Q466fs|SLC22A6_ENST00000360421.4_Frame_Shift_Ins_p.Q510fs	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	510					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGGCAGTGGCTGGCCCAGGGTC	0.614																																																	0																																										SO:0001589	frameshift_variant	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.1529dupC	11.37:g.62744694_62744694dupG	ENSP00000367102:p.Gln510fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Frame_Shift_Ins	INS	ENST00000377871.3	37	CCDS31591.1																																																																																				0.614	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000396186.1		NM_004790	
SLC25A14	9016	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129499647	129499647	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chrX:129499647A>C	ENST00000218197.5	+	8	1079	c.852A>C	c.(850-852)ttA>ttC	p.L284F	SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000361980.5_Missense_Mutation_p.L281F|SLC25A14_ENST00000339231.3_Missense_Mutation_p.L312F	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	284					aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)		p.L284F(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						ATGGTATTTTAAAGGTAAGTA	0.418																																																	1	Substitution - Missense(1)	kidney(1)											263.0	244.0	250.0					X																	129499647		2203	4300	6503	SO:0001583	missense	9016			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.852A>C	X.37:g.129499647A>C	ENSP00000218197:p.Leu284Phe	Somatic		WXS	Illumina HiSeq	Phase_I	D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Missense_Mutation	SNP	ENST00000218197.5	37	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	A	10.84	1.463882	0.26335	.	.	ENSG00000102078	ENST00000218197;ENST00000361980;ENST00000339231	T;T;T	0.79454	-1.27;-1.27;-1.27	5.06	-1.43	0.08884	Mitochondrial carrier domain (2);	0.123625	0.53938	D	0.000054	T	0.65923	0.2738	L	0.43598	1.365	0.80722	D	1	B;B;B	0.19445	0.036;0.02;0.025	B;B;B	0.21151	0.029;0.02;0.033	T	0.52704	-0.8540	10	0.34782	T	0.22	-11.3798	10.798	0.46472	0.4489:0.0:0.5511:0.0	.	312;281;284	O95258-3;O95258-2;O95258	.;.;UCP5_HUMAN	F	284;281;312	ENSP00000218197:L284F;ENSP00000354455:L281F;ENSP00000342797:L312F	ENSP00000218197:L284F	L	+	3	2	SLC25A14	129327328	0.997000	0.39634	0.980000	0.43619	0.426000	0.31534	0.324000	0.19610	-0.263000	0.09378	-0.368000	0.07277	TTA		0.418	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1		NM_022810, NM_003951	
SPTBN5	51332	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42147094	42147094	+	Silent	SNP	C	C	T			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr15:42147094C>T	ENST00000320955.6	-	56	9731	c.9504G>A	c.(9502-9504)ttG>ttA	p.L3168L	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3168					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)	p.L3168L(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GGGTGCCTGCCAACTTCCTCA	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											61.0	64.0	63.0					15																	42147094		1936	4137	6073	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.9504G>A	15.37:g.42147094C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000320955.6	37																																																																																					0.582	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1		NM_016642	
TACR1	6869	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	75278449	75278450	+	Missense_Mutation	DNP	GT	GT	TA			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G|T	G|T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr2:75278449_75278450GT>TA	ENST00000305249.5	-	4	1625_1626	c.860_861AC>TA	c.(859-861)tAC>tTA	p.Y287L	TACR1_ENST00000409848.3_Missense_Mutation_p.Y287L	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	287					acute inflammatory response (GO:0002526)|aggressive behavior (GO:0002118)|angiotensin-mediated drinking behavior (GO:0003051)|associative learning (GO:0008306)|behavioral response to pain (GO:0048266)|detection of abiotic stimulus (GO:0009582)|eating behavior (GO:0042755)|inflammatory response (GO:0006954)|long-term memory (GO:0007616)|operant conditioning (GO:0035106)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of action potential (GO:0045760)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of hormone secretion (GO:0046887)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of ossification (GO:0045778)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of saliva secretion (GO:0046878)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|positive regulation of vasoconstriction (GO:0045907)|regulation of smooth muscle cell migration (GO:0014910)|regulation of smooth muscle cell proliferation (GO:0048660)|response to auditory stimulus (GO:0010996)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to progesterone (GO:0032570)|smooth muscle contraction involved in micturition (GO:0060083)|sperm ejaculation (GO:0042713)|tachykinin receptor signaling pathway (GO:0007217)	cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance P receptor activity (GO:0016496)|tachykinin receptor activity (GO:0004995)	p.Y287*(1)|p.Y287F(1)|p.Y287L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	TGATGGCCAGGTAGACCTGCTG	0.545																																					Pancreas(64;62 1268 3653 14826 43765)												3	Substitution - Missense(2)|Substitution - Nonsense(1)	kidney(3)																																								SO:0001583	missense	6869			M76675	CCDS1958.1, CCDS46345.1	2p13.1-p12	2012-08-08			ENSG00000115353	ENSG00000115353		"""GPCR / Class A : Tachykinin receptors"""	11526	protein-coding gene	gene with protein product		162323		TAC1R		1657150	Standard	NM_001058		Approved	SPR, NK1R, NKIR	uc002sng.2	P25103	OTTHUMG00000129973	ENST00000305249.5:c.860_861delinsTA	2.37:g.75278449_75278450delinsTA	ENSP00000303522:p.Tyr287Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K150	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000305249.5	37	CCDS1958.1																																																																																				0.545	TACR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252239.3		NM_001058	
TSEN15	116461	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	184023905	184023905	+	Silent	SNP	C	C	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr1:184023905C>A	ENST00000361641.1	+	3	340	c.261C>A	c.(259-261)ctC>ctA	p.L87L	TSEN15_ENST00000423085.2_Silent_p.L87L|TSEN15_ENST00000533373.1_Silent_p.L87L	NM_052965.2	NP_443197.1	Q8WW01	SEN15_HUMAN	TSEN15 tRNA splicing endonuclease subunit	87					mRNA processing (GO:0006397)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	nucleus (GO:0005634)	tRNA-intron endonuclease activity (GO:0000213)	p.L87L(1)		breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						TACCAGAACTCCAGCTCATCT	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											62.0	58.0	59.0					1																	184023905		2203	4300	6503	SO:0001819	synonymous_variant	116461			AF288394	CCDS1361.1, CCDS44286.1, CCDS72993.1	1q25	2013-08-06	2013-08-06	2008-06-12	ENSG00000198860	ENSG00000198860		"""tRNA splicing endonuclease subunits"""	16791	protein-coding gene	gene with protein product		608756	"""chromosome 1 open reading frame 19"", ""tRNA splicing endonuclease 15 homolog (S. cerevisiae)"""	C1orf19		11318611, 17166513	Standard	XM_006711148		Approved		uc001gqt.4	Q8WW01	OTTHUMG00000035461	ENST00000361641.1:c.261C>A	1.37:g.184023905C>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DKP0|Q9BZQ5	Silent	SNP	ENST00000361641.1	37	CCDS1361.1																																																																																				0.433	TSEN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086132.1			
TTI1	9675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	36634747	36634747	+	Silent	SNP	T	T	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr20:36634747T>C	ENST00000373448.2	-	4	2593	c.2355A>G	c.(2353-2355)ttA>ttG	p.L785L	TTI1_ENST00000373447.3_Silent_p.L785L|TTI1_ENST00000449821.1_Silent_p.L785L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	785					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)		p.L785L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						CCTCTTCTCCTAAACTTTGCT	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											179.0	163.0	168.0					20																	36634747		2203	4300	6503	SO:0001819	synonymous_variant	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2355A>G	20.37:g.36634747T>C		Somatic		WXS	Illumina HiSeq	Phase_I	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	ENST00000373448.2	37	CCDS13300.1																																																																																				0.453	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079138.2		NM_014657	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179587658	179587658	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr2:179587658G>C	ENST00000591111.1	-	74	21241	c.21017C>G	c.(21016-21018)cCt>cGt	p.P7006R	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.P7323R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P6079R			Q8WZ42	TITIN_HUMAN	titin	12590	Ig-like 52.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P6079R(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAAAATAAGGCGGTTCTAA	0.403																																																	1	Substitution - Missense(1)	kidney(1)											37.0	37.0	37.0					2																	179587658		1955	4155	6110	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21017C>G	2.37:g.179587658G>C	ENSP00000465570:p.Pro7006Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	12.96	2.094509	0.36952	.	.	ENSG00000155657	ENST00000342992	T	0.81078	-1.45	5.95	5.95	0.96441	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94092	0.8106	H	0.97659	4.05	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95341	0.8438	9	0.87932	D	0	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	7006	Q8WZ42	TITIN_HUMAN	R	6079	ENSP00000343764:P6079R	ENSP00000343764:P6079R	P	-	2	0	TTN	179295903	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.944000	0.87722	2.821000	0.97095	0.650000	0.86243	CCT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
MIR4477B	100616194	broad.mit.edu	37	9	68413605	68413606	+	RNA	DEL	CT	CT	-	rs376859471		TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr9:68413605_68413606delCT	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		TTTGCTGAAACTCTGGGGTTGA	0.609																																																	0																																												0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68413607_68413608delCT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000581659.1	37																																																																																					0.609	MIR4477B-201	KNOWN	basic	miRNA	miRNA			NR_039689	
USP50	373509	broad.mit.edu;hgsc.bcm.edu	37	15	50833303	50833303	+	Silent	SNP	G	G	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr15:50833303G>A	ENST00000532404.1	-	4	776	c.603C>T	c.(601-603)aaC>aaT	p.N201N	USP50_ENST00000530218.1_Intron	NM_203494.4	NP_987090.2	Q70EL3	UBP50_HUMAN	ubiquitin specific peptidase 50	206	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.N206N(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		TGAAGACTTCGTTCTTGTAGG	0.438																																																	1	Substitution - coding silent(1)	kidney(1)											147.0	141.0	143.0					15																	50833303		1948	4147	6095	SO:0001819	synonymous_variant	373509			AI990110	CCDS53944.1	15q21.1	2008-02-05	2005-08-08			ENSG00000170236		"""Ubiquitin-specific peptidases"""	20079	protein-coding gene	gene with protein product			"""ubiquitin specific protease 50"""			12838346	Standard	NM_203494		Approved		uc021sky.1	Q70EL3		ENST00000532404.1:c.603C>T	15.37:g.50833303G>A		Somatic		WXS	Illumina HiSeq	Phase_I	E9PP86	Silent	SNP	ENST00000532404.1	37	CCDS53944.1																																																																																				0.438	USP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395249.1			
VHL	7428	hgsc.bcm.edu	37	3	10183815	10183815	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5116-01A-02W-1475-10	TCGA-B0-5116-11A-01W-1475-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina GAIIx	e393f502-8aa5-40fb-8280-a89e36fa87aa	5a6e989a-cfad-46fb-beee-fdfa7b1430bd	g.chr3:10183815C>A	ENST00000256474.2	+	1	1124	c.284C>A	c.(283-285)cCg>cAg	p.P95Q	VHL_ENST00000345392.2_Missense_Mutation_p.P95Q|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	95			Missing (in VHLD; type I).		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P95R(2)|p.P95_P99del(1)|p.E94fs*62(1)|p.R60fs*35(1)|p.F91fs*64(1)|p.E94fs*34(1)|p.Q96fs*36(1)|p.P95fs*59(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GACGGCGAGCCGCAGCCCTAC	0.692		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	9	Deletion - Frameshift(5)|Substitution - Missense(2)|Deletion - In frame(1)|Insertion - Frameshift(1)	kidney(9)	GRCh37	HD971482	VHL	D							13.0	15.0	14.0					3																	10183815		1869	3796	5665	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.284C>A	3.37:g.10183815C>A	ENSP00000256474:p.Pro95Gln	Somatic		WXS	Illumina MiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.709587	0.89018	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99842	-7.1;-7.1	5.16	4.29	0.51040	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.000000	0.85682	D	0.000000	D	0.99670	0.9877	M	0.70275	2.135	0.47009	D	0.999283	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.991	D	0.98543	1.0633	10	0.29301	T	0.29	-2.4368	11.5897	0.50939	0.0:0.9133:0.0:0.0867	.	95;95	P40337-2;P40337	.;VHL_HUMAN	Q	95	ENSP00000256474:P95Q;ENSP00000344757:P95Q	ENSP00000256474:P95Q	P	+	2	0	VHL	10158815	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.406000	0.44557	1.192000	0.43071	0.550000	0.68814	CCG		0.692	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZNF561	93134	broad.mit.edu;hgsc.bcm.edu	37	19	9720930	9720930	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5116-01A-02D-1421-08	TCGA-B0-5116-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb879135-abb3-4415-9de5-6a508b61657d	083104b4-ab47-457f-8009-1c065ce02101	g.chr19:9720930T>A	ENST00000302851.3	-	6	1770	c.1407A>T	c.(1405-1407)agA>agT	p.R469S	ZNF561_ENST00000354661.4_Missense_Mutation_p.R333S|ZNF561_ENST00000424629.1_Missense_Mutation_p.R400S|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000326044.5_3'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	469					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R400S(1)|p.R469S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CAGTGTGAATTCTTTCATGTC	0.413																																																	2	Substitution - Missense(2)	kidney(2)											92.0	86.0	88.0					19																	9720930		2203	4300	6503	SO:0001583	missense	93134			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1407A>T	19.37:g.9720930T>A	ENSP00000303915:p.Arg469Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	T	17.26	3.343908	0.61073	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.24151	1.87;1.87;1.87	1.03	1.03	0.20045	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.38026	0.1025	M	0.67569	2.06	0.27299	N	0.957647	D	0.69078	0.997	P	0.57720	0.826	T	0.15407	-1.0438	9	0.66056	D	0.02	.	6.2346	0.20756	0.0:0.0:0.0:1.0	.	469	Q8N587	ZN561_HUMAN	S	400;469;333	ENSP00000393074:R400S;ENSP00000303915:R469S;ENSP00000346687:R333S	ENSP00000303915:R469S	R	-	3	2	ZNF561	9581930	0.000000	0.05858	0.057000	0.19452	0.594000	0.36715	-2.714000	0.00815	0.719000	0.32188	0.155000	0.16302	AGA		0.413	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2		NM_152289	
