#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
ASH1L	55870	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155308160	155308160	+	Silent	SNP	G	G	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr1:155308160G>C	ENST00000368346.3	-	27	9177	c.8538C>G	c.(8536-8538)cgC>cgG	p.R2846R	ASH1L_ENST00000392403.3_Silent_p.R2841R			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2846					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.R2841R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTGGCTTTGAGCGCTCAGACT	0.498																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	71.0	72.0					1																	155308160		2203	4300	6503	SO:0001819	synonymous_variant	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.8538C>G	1.37:g.155308160G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37																																																																																					0.498	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489	
BAZ1B	9031	broad.mit.edu;hgsc.bcm.edu	37	7	72892732	72892732	+	Silent	SNP	C	C	G			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr7:72892732C>G	ENST00000339594.4	-	7	1397	c.1059G>C	c.(1057-1059)gtG>gtC	p.V353V	BAZ1B_ENST00000404251.1_Silent_p.V353V	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	353	Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)	p.V353V(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTGAGTTCTTCACTTTGAGTG	0.393																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												1	Substitution - coding silent(1)	kidney(1)											93.0	86.0	88.0					7																	72892732		2203	4300	6503	SO:0001819	synonymous_variant	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1059G>C	7.37:g.72892732C>G		Somatic		WXS	Illumina HiSeq	Phase_I	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Silent	SNP	ENST00000339594.4	37	CCDS5549.1																																																																																				0.393	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4		NM_032408	
BEND6	221336	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	56883335	56883335	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr6:56883335G>T	ENST00000370746.3	+	6	1098	c.829G>T	c.(829-831)Gat>Tat	p.D277Y	BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Missense_Mutation_p.D179Y	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	277					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)	p.D277Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TAACTCTCAGGATATTAAATA	0.308																																																	1	Substitution - Missense(1)	kidney(1)											60.0	57.0	58.0					6																	56883335		1816	4066	5882	SO:0001583	missense	221336			AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	ENST00000370746.3:c.829G>T	6.37:g.56883335G>T	ENSP00000359782:p.Asp277Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0W8|Q8N662|Q96NS6	Missense_Mutation	SNP	ENST00000370746.3	37	CCDS43476.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925654	0.73213	.	.	ENSG00000151917	ENST00000370746;ENST00000545789	.	.	.	4.96	4.96	0.65561	.	0.439888	0.16249	U	0.222800	T	0.40297	0.1111	N	0.19112	0.55	0.42411	D	0.992605	P;D	0.54207	0.94;0.965	P;P	0.51229	0.564;0.663	T	0.45948	-0.9226	9	0.87932	D	0	-20.2422	15.8616	0.79026	0.0:0.0:1.0:0.0	.	277;179	Q5SZJ8;Q5SZJ8-3	BEND6_HUMAN;.	Y	277;179	.	ENSP00000359782:D277Y	D	+	1	0	BEND6	56991294	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.622000	0.54217	2.727000	0.93392	0.655000	0.94253	GAT		0.308	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4		NM_152731	
C15orf52	388115	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	40628801	40628801	+	Silent	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr15:40628801C>T	ENST00000559313.1	-	9	1008	c.993G>A	c.(991-993)aaG>aaA	p.K331K	C15orf52_ENST00000557973.1_5'Flank|C15orf52_ENST00000397536.2_Silent_p.K121K	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	331							poly(A) RNA binding (GO:0044822)	p.K331K(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCAGCCTCTCCTTGCCCCGGG	0.642																																																	1	Substitution - coding silent(1)	kidney(1)											83.0	79.0	80.0					15																	40628801		2203	4300	6503	SO:0001819	synonymous_variant	388115			AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.993G>A	15.37:g.40628801C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Silent	SNP	ENST00000559313.1	37	CCDS10055.2																																																																																				0.642	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2		NM_207380	
TRAPPC13	80006	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	64933559	64933559	+	Silent	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:64933559C>T	ENST00000399438.3	+	4	597	c.252C>T	c.(250-252)atC>atT	p.I84I	TRAPPC13_ENST00000505553.1_Silent_p.I84I|TRAPPC13_ENST00000231526.4_Silent_p.I84I|TRAPPC13_ENST00000545191.1_Silent_p.I84I|TRAPPC13_ENST00000438419.2_Silent_p.I84I	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13	84								p.I84I(2)									CCAGTTATATCAGCGTTCATA	0.259																																																	2	Substitution - coding silent(2)	kidney(2)											46.0	49.0	48.0					5																	64933559		1795	4076	5871	SO:0001819	synonymous_variant	80006				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"""Trs65-related"""		"""chromosome 5 open reading frame 44"""	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.252C>T	5.37:g.64933559C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Silent	SNP	ENST00000399438.3	37	CCDS47222.1																																																																																				0.259	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370113.1		NM_024941	
KHDC3L	154288	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	74073548	74073548	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr6:74073548C>T	ENST00000370367.3	+	3	672	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	207							RNA binding (GO:0003723)	p.R207C(1)									CCAGCGGTTTCGCGAGGATGC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											33.0	34.0	34.0					6																	74073548		2201	4298	6499	SO:0001583	missense	0			AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.619C>T	6.37:g.74073548C>T	ENSP00000359392:p.Arg207Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNW7	Missense_Mutation	SNP	ENST00000370367.3	37	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	C	8.910	0.958466	0.18507	.	.	ENSG00000203908	ENST00000370367	T	0.46819	0.86	2.24	0.35	0.16037	.	1.253690	0.05990	N	0.645817	T	0.11965	0.0291	N	0.22421	0.69	0.09310	N	1	P	0.44044	0.825	B	0.34722	0.188	T	0.15838	-1.0423	10	0.66056	D	0.02	.	3.714	0.08431	0.0:0.5863:0.2545:0.1593	.	207	Q587J8	ECAT1_HUMAN	C	207	ENSP00000359392:R207C	ENSP00000359392:R207C	R	+	1	0	C6orf221	74130269	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.055000	0.11807	0.068000	0.16574	-0.657000	0.03884	CGC		0.622	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3		NM_001017361	
CAPN7	23473	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	15292631	15292631	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr3:15292631T>A	ENST00000253693.2	+	21	2559	c.2306T>A	c.(2305-2307)tTt>tAt	p.F769Y		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	769	Domain N.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)	p.F769Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AGGTGTGGGTTTTGCTACCTG	0.308																																																	1	Substitution - Missense(1)	kidney(1)											134.0	138.0	137.0					3																	15292631		2203	4300	6503	SO:0001583	missense	23473			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.2306T>A	3.37:g.15292631T>A	ENSP00000253693:p.Phe769Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000253693.2	37	CCDS2624.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.004497	0.54254	.	.	ENSG00000131375	ENST00000253693	D	0.86627	-2.15	6.04	6.04	0.98038	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.045326	0.85682	D	0.000000	T	0.81688	0.4875	L	0.43923	1.385	0.80722	D	1	P	0.43392	0.805	B	0.39590	0.304	T	0.79864	-0.1623	10	0.07990	T	0.79	-18.6181	16.2858	0.82720	0.0:0.0:0.0:1.0	.	769	Q9Y6W3	CAN7_HUMAN	Y	769	ENSP00000253693:F769Y	ENSP00000253693:F769Y	F	+	2	0	CAPN7	15267635	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.825000	0.86693	2.323000	0.78572	0.529000	0.55759	TTT		0.308	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252105.2		NM_014296	
CCDC9	26093	hgsc.bcm.edu	37	19	47774666	47774668	+	In_Frame_Del	DEL	GAG	GAG	-	rs138370983|rs79550409|rs373093080	byFrequency	TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	GAG	GAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:47774666_47774668delGAG	ENST00000221922.6	+	12	1549_1551	c.1327_1329delGAG	c.(1327-1329)gagdel	p.E445del		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	445	Glu-rich.						poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		agaaggtgatgaggaggaACCAG	0.606														552	0.110224	0.034	0.1844	5008	,	,		16057	0.0903		0.0895	False		,,,				2504	0.2025																0										208,4056		4,200,1928						-8.6	0.0		dbSNP_134	113	947,7301		59,829,3236	no	coding	CCDC9	NM_015603.2		63,1029,5164	A1A1,A1R,RR		11.4816,4.878,9.2311				1155,11357				SO:0001651	inframe_deletion	26093			AL050284	CCDS12698.1	19q13.33	2008-02-05				ENSG00000105321			24560	protein-coding gene	gene with protein product						11230166	Standard	NM_015603		Approved	DKFZP586M1019	uc010xym.2	Q9Y3X0		ENST00000221922.6:c.1327_1329delGAG	19.37:g.47774669_47774671delGAG	ENSP00000221922:p.Glu445del	Somatic		WXS	Illumina HiSeq	Phase_I		In_Frame_Del	DEL	ENST00000221922.6	37	CCDS12698.1																																																																																				0.606	CCDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466917.1		NM_015603	
CWC22	57703	hgsc.bcm.edu	37	2	180851432	180851432	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:180851432T>A	ENST00000410053.3	-	4	495	c.196A>T	c.(196-198)Atg>Ttg	p.M66L	CWC22_ENST00000295749.6_Missense_Mutation_p.M66L	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein	66	Arg-rich.				mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)	p.M66L(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CGTGACTCCATGCTACTATCA	0.338																																																	1	Substitution - Missense(1)	kidney(1)											80.0	74.0	76.0					2																	180851432		1855	4088	5943	SO:0001583	missense	57703				CCDS46465.1	2q31.3	2014-07-03	2014-07-03		ENSG00000163510	ENSG00000163510			29322	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein b"""	615186	"""CWC22 spliceosome-associated protein homolog (S. cerevisiae)"""			9136012, 23236153	Standard	NM_020943		Approved	KIAA1604, EIF4GL, fSAPb, NCM	uc010frh.1	Q9HCG8	OTTHUMG00000154244	ENST00000410053.3:c.196A>T	2.37:g.180851432T>A	ENSP00000387006:p.Met66Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q05DC2|Q4G135|Q52LF0|Q6PEX2|Q7Z6I0|Q9H5L3|Q9H6Q6	Missense_Mutation	SNP	ENST00000410053.3	37	CCDS46465.1	.	.	.	.	.	.	.	.	.	.	T	11.54	1.668050	0.29604	.	.	ENSG00000163510	ENST00000410053;ENST00000295749;ENST00000404136	T;T;T	0.25085	1.82;1.82;1.82	5.95	2.25	0.28309	.	0.622653	0.18909	N	0.127814	T	0.15998	0.0385	L	0.41236	1.265	0.20074	N	0.999932	B	0.06786	0.001	B	0.04013	0.001	T	0.20840	-1.0263	10	0.23891	T	0.37	-7.2766	3.3147	0.07029	0.3126:0.1597:0.0:0.5277	.	66	Q9HCG8	CWC22_HUMAN	L	66	ENSP00000387006:M66L;ENSP00000295749:M66L;ENSP00000384159:M66L	ENSP00000295749:M66L	M	-	1	0	CWC22	180559677	0.053000	0.20554	0.815000	0.32552	0.901000	0.52897	-0.103000	0.10940	0.460000	0.27045	0.533000	0.62120	ATG		0.338	CWC22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334537.1		NM_020943	
DDX59	83479	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	200617572	200617572	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr1:200617572G>A	ENST00000331314.6	-	7	1804	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	DDX59_ENST00000367348.3_Missense_Mutation_p.H531Y|DDX59_ENST00000447706.2_Missense_Mutation_p.H531Y	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	531	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)	p.H531Y(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						CTTACCTGATGGACATACTCA	0.413																																																	2	Substitution - Missense(2)	kidney(2)											144.0	130.0	135.0					1																	200617572		2203	4300	6503	SO:0001583	missense	83479			BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1591C>T	1.37:g.200617572G>A	ENSP00000330460:p.His531Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	CCDS30964.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.3|28.3	4.905164|4.905164	0.92035|0.92035	.|.	.|.	ENSG00000118197|ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000367346;ENST00000331314;ENST00000433235|ENST00000452560;ENST00000429498	T;T;T;T;T|.	0.80123|.	-1.34;-1.34;-1.34;-1.34;-1.34|.	5.41|5.41	5.41|5.41	0.78517|0.78517	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91294|0.91294	0.7255|0.7255	H|H	0.98721|0.98721	4.31|4.31	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94724|0.94724	0.7903|0.7903	10|5	0.87932|.	D|.	0|.	-27.8269|-27.8269	19.1974|19.1974	0.93695|0.93695	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	531;531|.	B7Z5N6;Q5T1V6|.	.;DDX59_HUMAN|.	Y|L	531;169;531;117;531;174|67;108	ENSP00000394367:H531Y;ENSP00000394304:H169Y;ENSP00000356317:H531Y;ENSP00000330460:H531Y;ENSP00000409954:H174Y|.	ENSP00000330460:H531Y|.	H|P	-|-	1|2	0|0	DDX59|DDX59	198884195|198884195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	9.848000|9.848000	0.99507|0.99507	2.529000|2.529000	0.85273|0.85273	0.579000|0.579000	0.79373|0.79373	CAT|CCA		0.413	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2		NM_001031725.4	
DEPDC4	120863	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	100660755	100660755	+	Silent	SNP	G	G	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr12:100660755G>A	ENST00000416321.1	-	1	102	c.100C>T	c.(100-102)Ctg>Ttg	p.L34L	SCYL2_ENST00000360820.2_5'Flank	NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	34				L -> G (in Ref. 2; AAH15117). {ECO:0000305}.	intracellular signal transduction (GO:0035556)			p.L34L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						GGCCCGTTCAGCCCTGGGCCC	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											103.0	107.0	106.0					12																	100660755		2203	4300	6503	SO:0001819	synonymous_variant	120863			AK090824	CCDS9075.1	12q23	2006-03-30				ENSG00000166153			22952	protein-coding gene	gene with protein product						12477932	Standard	XM_005268628		Approved	DEP.4, FLJ33505	uc001thi.3	Q8N2C3		ENST00000416321.1:c.100C>T	12.37:g.100660755G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q496C8|Q96BW0	Silent	SNP	ENST00000416321.1	37	CCDS9075.1																																																																																				0.577	DEPDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408482.1		NM_152317	
DPP10	57628	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	116485484	116485485	+	Missense_Mutation	DNP	TA	TA	AC			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T|A	T|A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:116485484_116485485TA>AC	ENST00000410059.1	+	8	1149_1150	c.669_670TA>AC	c.(667-672)ttTAat>ttACat	p.223_224FN>LH	DPP10_ENST00000488208.1_3'UTR|DPP10_ENST00000310323.8_Missense_Mutation_p.216_217FN>LH|DPP10_ENST00000393147.2_Missense_Mutation_p.227_228FN>LH|DPP10_ENST00000409163.1_Missense_Mutation_p.173_174FN>LH	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	223						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)	p.F223>?(1)|p.F223L(1)|p.F216L(1)|p.N224H(1)|p.N217H(1)|p.F216>?(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AAATAATTTTTAATGGGATTGC	0.282																																																	6	Substitution - Missense(4)|Complex(2)	kidney(6)																																								SO:0001583	missense	57628			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	Exception_encountered	2.37:g.116485484_116485485delinsAC	ENSP00000386565:p.F223_N224delinsLH	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	CCDS46400.1																																																																																				0.282	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4		NM_020868	
EPB41L2	2037	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	131190764	131190764	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr6:131190764A>C	ENST00000337057.3	-	15	2727	c.2546T>G	c.(2545-2547)gTt>gGt	p.V849G	EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.V849G|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.V779G|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.V779G|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.V227G|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000392427.3_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	849					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)	p.V849G(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCTCCGTTAACTTTCTGTGG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											199.0	160.0	173.0					6																	131190764		2203	4300	6503	SO:0001583	missense	2037			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2546T>G	6.37:g.131190764A>C	ENSP00000338481:p.Val849Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.417830	0.83449	.	.	ENSG00000079819	ENST00000337057;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000529208;ENST00000527423	T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12	5.71	5.71	0.89125	.	1.109740	0.06658	N	0.763937	T	0.47893	0.1470	M	0.67953	2.075	0.80722	D	1	D;D	0.65815	0.995;0.993	P;P	0.57468	0.821;0.791	T	0.34502	-0.9826	10	0.16896	T	0.51	.	15.9811	0.80111	1.0:0.0:0.0:0.0	.	849;227	O43491;Q6R5J7	E41L2_HUMAN;.	G	849;849;779;227;779;248	ENSP00000338481:V849G;ENSP00000357110:V849G;ENSP00000436348:V779G;ENSP00000437207:V227G;ENSP00000436641:V779G;ENSP00000437295:V248G	ENSP00000338481:V849G	V	-	2	0	EPB41L2	131232457	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	8.466000	0.90387	2.179000	0.69175	0.379000	0.24179	GTT		0.468	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			
ERBB2	2064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	37876087	37876087	+	Splice_Site	SNP	G	G	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr17:37876087G>C	ENST00000269571.5	+	16	2105	c.1946G>C	c.(1945-1947)aGc>aCc	p.S649T	ERBB2_ENST00000584601.1_Splice_Site_p.S619T|ERBB2_ENST00000406381.2_Splice_Site_p.S619T|ERBB2_ENST00000540147.1_Splice_Site_p.S619T|ERBB2_ENST00000584450.1_Splice_Site_p.S649T|ERBB2_ENST00000541774.1_Splice_Site_p.S634T|ERBB2_ENST00000445658.2_Splice_Site_p.S373T			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	649					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S649T(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	CAGAGAGCCAGGTTGGCCTGG	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	1	Substitution - Missense(1)	kidney(1)											154.0	131.0	139.0					17																	37876087		2203	4300	6503	SO:0001630	splice_region_variant	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.1946+1G>C	17.37:g.37876087G>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755721	0.31046	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.76186	-1.0;-1.0;-0.98;-1.0;-1.0	5.39	5.39	0.77823	Cytochrome c1, transmembrane anchor, C-terminal (1);	.	.	.	.	T	0.80639	0.4661	L	0.55481	1.735	0.80722	D	1	B;D;B	0.57899	0.435;0.981;0.435	B;P;B	0.56434	0.141;0.798;0.141	T	0.77859	-0.2431	9	0.30854	T	0.27	.	18.7559	0.91832	0.0:0.0:1.0:0.0	.	373;634;649	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	T	619;634;373;649;619	ENSP00000385185:S619T;ENSP00000446466:S634T;ENSP00000404047:S373T;ENSP00000269571:S649T;ENSP00000443562:S619T	ENSP00000269571:S649T	S	+	2	0	ERBB2	35129613	1.000000	0.71417	1.000000	0.80357	0.267000	0.26476	7.031000	0.76491	2.517000	0.84864	0.563000	0.77884	AGC		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			Missense_Mutation
STRIP1	85369	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	110589317	110589317	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr1:110589317A>C	ENST00000369795.3	+	13	1454	c.1432A>C	c.(1432-1434)Att>Ctt	p.I478L	STRIP1_ENST00000369796.1_Missense_Mutation_p.I383L	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	478					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.I478L(1)									GTACACGTCGATTGCAGAGGT	0.567																																																	1	Substitution - Missense(1)	kidney(1)											179.0	177.0	177.0					1																	110589317		2203	4300	6503	SO:0001583	missense	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1432A>C	1.37:g.110589317A>C	ENSP00000358810:p.Ile478Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.870775	0.33069	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.36878	1.24;1.23	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.03608	0.0103	N	0.00793	-1.18	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.20184	0.003;0.028	T	0.40757	-0.9546	10	0.02654	T	1	-16.3023	10.262	0.43431	0.9259:0.0:0.0741:0.0	.	383;478	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	L	383;478	ENSP00000358811:I383L;ENSP00000358810:I478L	ENSP00000358810:I478L	I	+	1	0	FAM40A	110390840	1.000000	0.71417	0.138000	0.22173	0.483000	0.33249	5.334000	0.65923	2.240000	0.73641	0.528000	0.53228	ATT		0.567	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1		NM_033088	
FGFR1	2260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	38314935	38314935	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr8:38314935C>A	ENST00000447712.2	-	2	971	c.30G>T	c.(28-30)tgG>tgT	p.W10C	FGFR1_ENST00000335922.5_5'UTR|FGFR1_ENST00000397113.2_Missense_Mutation_p.W10C|FGFR1_ENST00000397103.1_Missense_Mutation_p.W10C|FGFR1_ENST00000532791.1_Missense_Mutation_p.W10C|FGFR1_ENST00000397108.4_Missense_Mutation_p.W10C|FGFR1_ENST00000425967.3_Missense_Mutation_p.W43C|FGFR1_ENST00000326324.6_Missense_Mutation_p.W10C|FGFR1_ENST00000397091.5_Missense_Mutation_p.W10C|FGFR1_ENST00000356207.5_Missense_Mutation_p.W10C|FGFR1_ENST00000341462.5_Missense_Mutation_p.W10C	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	10					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.W10C(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CCAGCACAGCCCAGAAGAGGA	0.602		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)			Dom	yes		8	8p11.2-p11.1	2260	fibroblast growth factor receptor 1	yes	L	4	Substitution - Missense(4)	kidney(4)											72.0	63.0	66.0					8																	38314935		2203	4300	6503	SO:0001583	missense	2260			M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.30G>T	8.37:g.38314935C>A	ENSP00000400162:p.Trp10Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013539	0.54468	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000326324;ENST00000397103;ENST00000397108;ENST00000326296;ENST00000525001;ENST00000526742;ENST00000529552;ENST00000530568;ENST00000434187;ENST00000413133	T;T;T;T;T;T;T;D;D;T;T;T;T;T;T;T	0.82433	-1.09;-1.1;-1.11;-1.1;-1.11;-1.09;-1.38;-1.59;-1.61;-1.09;-0.94;-1.3;-1.34;-1.06;-0.55;-1.15	5.46	5.46	0.80206	.	0.958874	0.08737	N	0.901125	D	0.85818	0.5785	N	0.14661	0.345	0.58432	D	0.999998	D;D;D;D;P;P;D;D;D;D;D	0.89917	0.999;0.966;0.98;0.98;0.859;0.553;1.0;0.966;0.999;0.995;0.98	D;P;P;P;B;B;D;P;D;P;P	0.87578	0.995;0.878;0.804;0.804;0.133;0.102;0.998;0.641;0.973;0.789;0.804	T	0.82993	-0.0181	10	0.72032	D	0.01	.	16.2286	0.82318	0.0:1.0:0.0:0.0	.	10;10;10;43;10;10;10;10;10;10;10	B5A959;P11362-3;P11362-7;P11362-21;B5A958;P11362-14;P11362-4;P11362;P11362-16;P11362-18;P11362-2	.;.;.;.;.;.;.;FGFR1_HUMAN;.;.;.	C	10;43;10;10;10;10;10;10;10;10;10;10;10;10;10;10;10;10	ENSP00000380280:W10C;ENSP00000393312:W43C;ENSP00000400162:W10C;ENSP00000340636:W10C;ENSP00000432972:W10C;ENSP00000380302:W10C;ENSP00000348537:W10C;ENSP00000327229:W10C;ENSP00000380292:W10C;ENSP00000380297:W10C;ENSP00000434712:W10C;ENSP00000433569:W10C;ENSP00000435283:W10C;ENSP00000434473:W10C;ENSP00000392645:W10C;ENSP00000400708:W10C	ENSP00000311337:W10C	W	-	3	0	FGFR1	38434092	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.678000	0.61641	2.562000	0.86427	0.462000	0.41574	TGG		0.602	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				
FUT6	2528	hgsc.bcm.edu	37	19	5832160	5832161	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:5832160_5832161insT	ENST00000318336.4	-	3	1612_1613	c.418_419insA	c.(418-420)agcfs	p.S140fs	FUT6_ENST00000592563.1_Frame_Shift_Ins_p.S140fs|FUT6_ENST00000524754.1_Frame_Shift_Ins_p.S140fs|FUT6_ENST00000527106.1_Frame_Shift_Ins_p.S140fs|FUT6_ENST00000286955.5_Frame_Shift_Ins_p.S140fs	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	140					fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060)|alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						CCAGCAGTGGCTTGGGGACTCC	0.629																																																	0																																										SO:0001589	frameshift_variant	2528				CCDS12152.1	19p13.3	2013-02-26			ENSG00000156413	ENSG00000156413	2.4.1.65	"""Fucosyltransferases"""	4017	protein-coding gene	gene with protein product	"""alpha-(1,3)-fucosyltransferase"", ""galactoside 3-L-fucosyltransferase"""	136836				1520296, 7782074	Standard	NM_001040701		Approved	FT1A, FCT3A, FucT-VI, FLJ40754	uc002mdh.1	P51993	OTTHUMG00000167335	ENST00000318336.4:c.419dupA	19.37:g.5832162_5832162dupT	ENSP00000313398:p.Ser140fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NEX0|D6W637|Q9UND8	Frame_Shift_Ins	INS	ENST00000318336.4	37	CCDS12152.1																																																																																				0.629	FUT6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394218.2		NM_000150	
GPR174	84636	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	78427224	78427224	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chrX:78427224delA	ENST00000276077.1	+	1	756	c.720delA	c.(718-720)ctafs	p.L240fs		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GGGTATTCCTAATTTGCTTTG	0.393										HNSCC(63;0.18)																																							0													105.0	96.0	99.0					X																	78427224		2203	4300	6503	SO:0001589	frameshift_variant	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.720delA	X.37:g.78427224delA	ENSP00000276077:p.Leu240fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3F7	Frame_Shift_Del	DEL	ENST00000276077.1	37	CCDS14443.1																																																																																				0.393	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1		NM_032553	
GPR4	2828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	46094848	46094848	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:46094848A>T	ENST00000323040.4	-	2	1221	c.277T>A	c.(277-279)Ttt>Att	p.F93I	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	93					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F93I(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ATGAACCCAAAGAGCTTGCAG	0.602																																					Esophageal Squamous(117;181 1612 1673 14956 42937)												1	Substitution - Missense(1)	kidney(1)											107.0	108.0	108.0					19																	46094848		2203	4300	6503	SO:0001583	missense	2828			BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.277T>A	19.37:g.46094848A>T	ENSP00000319744:p.Phe93Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8K3T3|B0M0K1|Q6NWM4	Missense_Mutation	SNP	ENST00000323040.4	37	CCDS12669.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985866	0.74589	.	.	ENSG00000177464	ENST00000323040	T	0.37058	1.22	5.41	5.41	0.78517	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	T	0.37732	0.1014	N	0.21142	0.635	0.44762	D	0.99776	D	0.55172	0.97	P	0.57324	0.818	T	0.08848	-1.0702	10	0.17369	T	0.5	.	13.3858	0.60795	1.0:0.0:0.0:0.0	.	93	P46093	GPR4_HUMAN	I	93	ENSP00000319744:F93I	ENSP00000319744:F93I	F	-	1	0	GPR4	50786688	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.487000	0.53222	2.044000	0.60594	0.374000	0.22700	TTT		0.602	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1		NM_005282	
GTF2A1	2957	broad.mit.edu;hgsc.bcm.edu	37	14	81659180	81659180	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr14:81659180G>T	ENST00000553612.1	-	7	1019	c.616C>A	c.(616-618)Ctg>Atg	p.L206M	GTF2A1_ENST00000434192.2_Missense_Mutation_p.L167M	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	206					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 TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.L206M(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		AGAGGAGCCAGCACCTAAAGC	0.408																																																	1	Substitution - Missense(1)	kidney(1)											85.0	86.0	86.0					14																	81659180		2203	4300	6503	SO:0001583	missense	2957			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.616C>A	14.37:g.81659180G>T	ENSP00000452454:p.Leu206Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q3KNQ9	Missense_Mutation	SNP	ENST00000553612.1	37	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934748	0.52866	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	T;T	0.43294	0.95;0.95	5.2	-1.81	0.07882	.	0.000000	0.64402	D	0.000001	T	0.50188	0.1601	L	0.52364	1.645	0.58432	D	0.999994	D	0.69078	0.997	D	0.79108	0.992	T	0.42361	-0.9456	10	0.34782	T	0.22	-10.9721	10.5105	0.44860	0.7478:0.0:0.2522:0.0	.	206	P52655	TF2AA_HUMAN	M	206;167;167	ENSP00000452454:L206M;ENSP00000409492:L167M	ENSP00000298173:L206M	L	-	1	2	GTF2A1	80728933	0.059000	0.20769	0.190000	0.23270	0.988000	0.76386	0.361000	0.20267	-0.180000	0.10637	0.655000	0.94253	CTG		0.408	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1		NM_015859	
HACE1	57531	broad.mit.edu;hgsc.bcm.edu	37	6	105192486	105192486	+	Splice_Site	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr6:105192486C>A	ENST00000262903.4	-	21	2620		c.e21-1		HACE1_ENST00000369125.2_Splice_Site|HACE1_ENST00000517995.1_Splice_Site	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1						cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		GCAGTAGCTCCTTGGGGGAAG	0.323																																																	1	Unknown(1)	kidney(1)											58.0	58.0	58.0					6																	105192486		2203	4297	6500	SO:0001630	splice_region_variant	57531			BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2344-1G>T	6.37:g.105192486C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Splice_Site	SNP	ENST00000262903.4	37	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160006	0.78226	.	.	ENSG00000085382	ENST00000262903;ENST00000369125;ENST00000518503;ENST00000518402	.	.	.	5.93	5.93	0.95920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HACE1	105299179	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.096000	0.76960	2.805000	0.96524	0.655000	0.94253	.		0.323	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2		XM_045095	Intron
HERPUD2	64224	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	35678058	35678058	+	Silent	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr7:35678058C>A	ENST00000396081.1	-	5	1323	c.519G>T	c.(517-519)ggG>ggT	p.G173G	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Silent_p.G173G	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	173					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G173G(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						GAGCAGCTTGCCCAGGAAATT	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	67.0	68.0					7																	35678058		2203	4300	6503	SO:0001819	synonymous_variant	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.519G>T	7.37:g.35678058C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A4D1Y8|Q9H6F9	Silent	SNP	ENST00000396081.1	37	CCDS5446.1																																																																																				0.403	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1		NM_022373	
HMGXB4	10042	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	35659854	35659854	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr22:35659854delT	ENST00000216106.5	+	4	374	c.246delT	c.(244-246)gatfs	p.D82fs	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	82					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTCTGATGATTACTACTATG	0.448																																																	0													126.0	108.0	114.0					22																	35659854		2203	4300	6503	SO:0001589	frameshift_variant	10042			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.246delT	22.37:g.35659854delT	ENSP00000216106:p.Asp82fs	Somatic		WXS	Illumina HiSeq	Phase_I	O75672|O75673|Q9UMT5	Frame_Shift_Del	DEL	ENST00000216106.5	37	CCDS33641.1																																																																																				0.448	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318104.2		NM_005487	
KIF13B	23303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	29018370	29018370	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr8:29018370delC	ENST00000524189.1	-	13	1322	c.1284delG	c.(1282-1284)cagfs	p.Q428fs	KIF13B_ENST00000521515.1_Frame_Shift_Del_p.Q428fs	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	428					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GACTCTCAAGCTGTTTCTGTC	0.388																																																	0													94.0	87.0	89.0					8																	29018370		1851	4100	5951	SO:0001589	frameshift_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.1284delG	8.37:g.29018370delC	ENSP00000427900:p.Gln428fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Frame_Shift_Del	DEL	ENST00000524189.1	37	CCDS55217.1																																																																																				0.388	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376878.1			
LCA5	167691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	80203392	80203392	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr6:80203392C>A	ENST00000392959.1	-	5	1407	c.796G>T	c.(796-798)Gag>Tag	p.E266*	LCA5_ENST00000467898.3_Nonsense_Mutation_p.E266*|LCA5_ENST00000369846.4_Nonsense_Mutation_p.E266*	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	266					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)	p.E266*(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TCATGAGCCTCATATGCCCTT	0.333																																																	1	Substitution - Nonsense(1)	kidney(1)											129.0	122.0	124.0					6																	80203392		2203	4300	6503	SO:0001587	stop_gained	167691				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.796G>T	6.37:g.80203392C>A	ENSP00000376686:p.Glu266*	Somatic		WXS	Illumina HiSeq	Phase_I	E1P542|Q9BWX7	Nonsense_Mutation	SNP	ENST00000392959.1	37	CCDS4990.1	.	.	.	.	.	.	.	.	.	.	C	38	7.249112	0.98164	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	.	.	.	5.56	4.63	0.57726	.	0.392275	0.30020	N	0.010602	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-4.4272	7.9371	0.29935	0.1612:0.7575:0.0:0.0813	.	.	.	.	X	266	.	ENSP00000358861:E266X	E	-	1	0	LCA5	80260111	0.977000	0.34250	0.977000	0.42913	0.710000	0.40934	2.813000	0.48002	2.777000	0.95525	0.591000	0.81541	GAG		0.333	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259269.1		NM_181714	
LAMA2	3908	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	129663519	129663519	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr6:129663519G>C	ENST00000421865.2	+	30	4392	c.4343G>C	c.(4342-4344)tGt>tCt	p.C1448S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1448	Laminin EGF-like 15. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.C1448S(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGTGACTTCTGTGAACGATGT	0.378																																																	1	Substitution - Missense(1)	kidney(1)											161.0	148.0	152.0					6																	129663519		2203	4300	6503	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4343G>C	6.37:g.129663519G>C	ENSP00000400365:p.Cys1448Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.615475	0.87359	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	D	0.97791	-4.54	5.57	5.57	0.84162	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.99590	4.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98150	1.0441	10	0.87932	D	0	.	18.6919	0.91586	0.0:0.0:1.0:0.0	.	1448;1448	A6NF00;P24043	.;LAMA2_HUMAN	S	1448	ENSP00000400365:C1448S	ENSP00000346769:C1448S	C	+	2	0	LAMA2	129705212	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.479000	0.90431	2.785000	0.95823	0.655000	0.94253	TGT		0.378	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			
LDOC1L	84247	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	44893405	44893405	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr22:44893405C>T	ENST00000341255.3	-	2	541	c.32G>A	c.(31-33)aGc>aAc	p.S11N		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	11								p.S11N(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CAAGGCTGGGCTTTCAGCTTT	0.642																																																	1	Substitution - Missense(1)	kidney(1)											44.0	32.0	36.0					22																	44893405		2201	4297	6498	SO:0001583	missense	84247			CR456439	CCDS33662.1	22q13.3	2006-09-06			ENSG00000188636	ENSG00000188636			13343	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_032287		Approved	dJ1033E15.2, DKFZp761O17121, Mart6, Mar6	uc003beu.1	Q6ICC9	OTTHUMG00000150465	ENST00000341255.3:c.32G>A	22.37:g.44893405C>T	ENSP00000340434:p.Ser11Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZTR1	Missense_Mutation	SNP	ENST00000341255.3	37	CCDS33662.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.756688	0.49362	.	.	ENSG00000188636	ENST00000341255	T	0.19669	2.13	2.95	-2.36	0.06663	.	.	.	.	.	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35226	-0.9797	9	0.27082	T	0.32	-0.7178	5.4911	0.16777	0.0:0.4829:0.232:0.2851	.	11	Q6ICC9	LDOCL_HUMAN	N	11	ENSP00000340434:S11N	ENSP00000340434:S11N	S	-	2	0	LDOC1L	43272069	0.038000	0.19896	0.004000	0.12327	0.757000	0.42996	0.160000	0.16462	-0.329000	0.08527	0.467000	0.42956	AGC		0.642	LDOC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318222.1		NM_032287	
LMBRD2	92255	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	36117868	36117868	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:36117868G>A	ENST00000296603.4	-	10	1733	c.1271C>T	c.(1270-1272)gCa>gTa	p.A424V		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	424						integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.A424V(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGTTTTTTCTGCCAGCTGTAT	0.358																																																	1	Substitution - Missense(1)	kidney(1)											56.0	58.0	58.0					5																	36117868		2203	4300	6503	SO:0001583	missense	92255				CCDS34145.1	5p13.2	2008-02-05			ENSG00000164187	ENSG00000164187			25287	protein-coding gene	gene with protein product							Standard	NM_001007527		Approved	DKFZp434H2226	uc003jkb.1	Q68DH5	OTTHUMG00000162150	ENST00000296603.4:c.1271C>T	5.37:g.36117868G>A	ENSP00000296603:p.Ala424Val	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRB6|Q9NTC7	Missense_Mutation	SNP	ENST00000296603.4	37	CCDS34145.1	.	.	.	.	.	.	.	.	.	.	G	34	5.364382	0.95877	.	.	ENSG00000164187	ENST00000296603;ENST00000546130	T	0.34072	1.38	5.36	5.36	0.76844	LMBR1-like membrane protein (1);	0.000000	0.85682	D	0.000000	T	0.62986	0.2473	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59841	-0.7378	10	0.25106	T	0.35	-14.5955	19.0947	0.93246	0.0:0.0:1.0:0.0	.	424	Q68DH5	LMBD2_HUMAN	V	424;318	ENSP00000296603:A424V	ENSP00000296603:A424V	A	-	2	0	LMBRD2	36153625	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.516000	0.84829	0.650000	0.86243	GCA		0.358	LMBRD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367552.1		NM_001007527	
MAP7D2	256714	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	20081684	20081684	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chrX:20081684G>A	ENST00000379651.3	-	3	238	c.220C>T	c.(220-222)Caa>Taa	p.Q74*	MAP7D2_ENST00000379643.5_Nonsense_Mutation_p.Q74*|MAP7D2_ENST00000443379.3_Nonsense_Mutation_p.Q74*|MAP7D2_ENST00000452324.3_Nonsense_Mutation_p.Q30*	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	74					microtubule cytoskeleton organization (GO:0000226)	microtubule (GO:0005874)		p.Q74*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						AGGATCTGTTGCTCCCGAGCA	0.517																																																	2	Substitution - Nonsense(2)	kidney(2)											101.0	86.0	91.0					X																	20081684		2203	4300	6503	SO:0001587	stop_gained	256714			BC089400	CCDS14195.1, CCDS55384.1, CCDS55385.1, CCDS55386.1	Xp22.12	2008-02-05			ENSG00000184368	ENSG00000184368			25899	protein-coding gene	gene with protein product						12477932	Standard	NM_152780		Approved	FLJ14503	uc010nfo.2	Q96T17	OTTHUMG00000021228	ENST00000379651.3:c.220C>T	X.37:g.20081684G>A	ENSP00000368972:p.Gln74*	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z2J8|B7Z3S7|B9EGC7|C9JMA4|C9JYW0|Q5EBN1|Q5JPS7|Q6PIC7|Q8N792	Nonsense_Mutation	SNP	ENST00000379651.3	37	CCDS14195.1	.	.	.	.	.	.	.	.	.	.	G	33	5.228372	0.95173	.	.	ENSG00000184368	ENST00000379651;ENST00000379643;ENST00000443379;ENST00000452324;ENST00000330274	.	.	.	5.87	4.99	0.66335	.	0.177886	0.39544	N	0.001338	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-17.4313	14.9748	0.71264	0.0:0.0:0.8561:0.1439	.	.	.	.	X	74;74;74;30;74	.	ENSP00000332677:Q74X	Q	-	1	0	MAP7D2	19991605	0.315000	0.24571	0.820000	0.32676	0.522000	0.34438	1.424000	0.34848	1.194000	0.43101	0.594000	0.82650	CAA		0.517	MAP7D2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056001.1		NM_152780	
MIDN	90007	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1257108	1257108	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:1257108C>T	ENST00000591446.2	+	7	1653	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	CIRBP_ENST00000588030.1_5'Flank|MIDN_ENST00000300952.2_Missense_Mutation_p.P415L			Q504T8	MIDN_HUMAN	midnolin	415						cytosol (GO:0005829)|nucleolus (GO:0005730)		p.P415L(1)		NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGGGGTCCGTACCACTGG	0.706																																																	1	Substitution - Missense(1)	kidney(1)											15.0	19.0	17.0					19																	1257108		2198	4283	6481	SO:0001583	missense	90007			AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1244C>T	19.37:g.1257108C>T	ENSP00000467679:p.Pro415Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	c	19.94	3.919878	0.73098	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.44	3.44	0.39384	.	0.065886	0.64402	U	0.000008	T	0.77267	0.4105	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81097	-0.1087	9	0.87932	D	0	-20.4334	13.6033	0.62033	0.0:1.0:0.0:0.0	.	415	Q504T8	MIDN_HUMAN	L	415	.	ENSP00000300952:P415L	P	+	2	0	MIDN	1208108	1.000000	0.71417	0.982000	0.44146	0.249000	0.25844	6.646000	0.74348	1.756000	0.51951	0.486000	0.48141	CCG		0.706	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2			
MSH2	4436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	47703619	47703619	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:47703619T>C	ENST00000233146.2	+	13	2342	c.2119T>C	c.(2119-2121)Tgc>Cgc	p.C707R	MSH2_ENST00000543555.1_Missense_Mutation_p.C641R|MSH2_ENST00000406134.1_Missense_Mutation_p.C707R	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	707					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(2)|p.C707R(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CATTGTGGACTGCATCTTAGC	0.463			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	mutS homolog 2 (E. coli)		E	5	Whole gene deletion(2)|Unknown(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(3)|prostate(1)|kidney(1)											155.0	138.0	144.0					2																	47703619		2203	4300	6503	SO:0001583	missense	4436	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.2119T>C	2.37:g.47703619T>C	ENSP00000233146:p.Cys707Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4E2Z2|O75488	Missense_Mutation	SNP	ENST00000233146.2	37	CCDS1834.1	.	.	.	.	.	.	.	.	.	.	T	16.28	3.079991	0.55753	.	.	ENSG00000095002	ENST00000233146;ENST00000543555;ENST00000406134;ENST00000419559;ENST00000413880	D;D;D	0.84146	-1.81;-1.81;-1.81	6.08	4.94	0.65067	DNA mismatch repair protein MutS, C-terminal (2);	0.077524	0.85682	D	0.000000	T	0.62744	0.2453	N	0.00465	-1.465	0.80722	D	1	B;P;B	0.35383	0.075;0.498;0.412	B;B;B	0.38500	0.091;0.15;0.275	T	0.73911	-0.3833	10	0.87932	D	0	-10.4436	11.6936	0.51529	0.0:0.0682:0.0:0.9317	.	641;707;707	B4E2Z2;E9PHA6;P43246	.;.;MSH2_HUMAN	R	707;641;707;707;493	ENSP00000233146:C707R;ENSP00000442697:C641R;ENSP00000384199:C707R	ENSP00000233146:C707R	C	+	1	0	MSH2	47557123	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.881000	0.63114	2.333000	0.79357	0.482000	0.46254	TGC		0.463	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3			
MSH3	4437	broad.mit.edu;ucsc.edu	37	5	79950742	79950750	+	In_Frame_Del	DEL	CCCCCAGCT	CCCCCAGCT	-	rs144629981|rs3045983|rs557874766|rs1047489	byFrequency	TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	CCCCCAGCT	CCCCCAGCT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:79950742_79950750delCCCCCAGCT	ENST00000265081.6	+	1	276_284	c.196_204delCCCCCAGCT	c.(196-204)cccccagctdel	p.PPA66del	DHFR_ENST00000439211.2_5'UTR|DHFR_ENST00000511032.1_5'Flank|DHFR_ENST00000504396.1_5'Flank|DHFR_ENST00000513048.1_5'Flank|DHFR_ENST00000505337.1_5'Flank	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	66					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		gCCCCCAGCGCCCCCAGCTCCCGCCTTCC	0.732								Mismatch excision repair (MMR)						1174	0.234425	0.2874	0.2061	5008	,	,		7173	0.0565		0.2535	False		,,,				2504	0.3466				Melanoma(88;1010 1399 13793 26548 36275)												0									,	1105,2179		342,421,879					,	4.0	1.0		dbSNP_102	4	1941,4615		567,807,1904	no	coding,utr-5	DHFR,MSH3	NM_002439.3,NM_000791.3	,	909,1228,2783	A1A1,A1R,RR		29.6065,33.648,30.9553	,	,		3046,6794				SO:0001651	inframe_deletion	4437			U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.196_204delCCCCCAGCT	5.37:g.79950742_79950750delCCCCCAGCT	ENSP00000265081:p.Pro66_Ala68del	Somatic		WXS	Illumina GAIIx	Phase_I	A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	In_Frame_Del	DEL	ENST00000265081.6	37	CCDS34195.1																																																																																				0.732	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1		NM_002439	
MYH2	4620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10447217	10447217	+	Splice_Site	SNP	A	A	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr17:10447217A>T	ENST00000245503.5	-	7	1033		c.e7+1		CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Splice_Site|MYH2_ENST00000397183.2_Splice_Site	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.?(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AATCAGACTCACCTGTATTTT	0.478																																																	1	Unknown(1)	kidney(1)											91.0	82.0	85.0					17																	10447217		2203	4300	6503	SO:0001630	splice_region_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.648+1T>A	17.37:g.10447217A>T		Somatic		WXS	Illumina HiSeq	Phase_I	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Splice_Site	SNP	ENST00000245503.5	37	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.981168	0.34942	.	.	ENSG00000125414	ENST00000532183;ENST00000245503;ENST00000397183	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9948	0.47569	0.8441:0.1559:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH2	10387942	0.994000	0.37717	0.973000	0.42090	0.269000	0.26545	3.816000	0.55658	2.119000	0.64992	0.533000	0.62120	.		0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3		NM_017534	Intron
MYH3	4621	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	10535182	10535182	+	Missense_Mutation	SNP	G	G	A	rs546075871	byFrequency	TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr17:10535182G>A	ENST00000583535.1	-	35	5195	c.5108C>T	c.(5107-5109)gCg>gTg	p.A1703V	MYH3_ENST00000226209.7_Missense_Mutation_p.A1703V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1703					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)	p.A1703V(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCCTGTTCCGCCAGTTTCCG	0.647													G|||	5	0.000998403	0.0023	0.0	5008	,	,		18019	0.0		0.0	False		,,,				2504	0.002																1	Substitution - Missense(1)	kidney(1)											57.0	59.0	58.0					17																	10535182		2203	4300	6503	SO:0001583	missense	4621				CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5108C>T	17.37:g.10535182G>A	ENSP00000464317:p.Ala1703Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q15492	Missense_Mutation	SNP	ENST00000583535.1	37	CCDS11157.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457836	0.63401	.	.	ENSG00000109063	ENST00000226209	D	0.82984	-1.67	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.89054	0.6606	M	0.90483	3.12	0.53688	D	0.99997	P	0.34977	0.478	B	0.41723	0.365	D	0.90500	0.4473	9	0.72032	D	0.01	.	18.8204	0.92094	0.0:0.0:1.0:0.0	.	1703	P11055	MYH3_HUMAN	V	1703	ENSP00000226209:A1703V	ENSP00000226209:A1703V	A	-	2	0	MYH3	10475907	1.000000	0.71417	0.597000	0.28824	0.179000	0.23085	9.607000	0.98328	2.734000	0.93682	0.655000	0.94253	GCG		0.647	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2		NM_002470	
NCOR2	9612	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124858994	124858994	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr12:124858994C>T	ENST00000405201.1	-	19	2183	c.2183G>A	c.(2182-2184)gGg>gAg	p.G728E	NCOR2_ENST00000429285.2_Intron|NCOR2_ENST00000356219.3_Missense_Mutation_p.G728E|NCOR2_ENST00000404121.2_Intron|NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000404621.1_Intron			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	728					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)	p.G728E(2)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cacctcattcccagaggcatg	0.652																																																	2	Substitution - Missense(2)	kidney(2)											30.0	33.0	32.0					12																	124858994		1987	4150	6137	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2183G>A	12.37:g.124858994C>T	ENSP00000384018:p.Gly728Glu	Somatic		WXS	Illumina HiSeq	Phase_I	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	C	9.579	1.122955	0.20959	.	.	ENSG00000196498	ENST00000405201;ENST00000356219;ENST00000447011;ENST00000458234	T;T;T	0.51325	0.71;0.71;0.71	1.87	1.87	0.25490	.	0.716506	0.11990	N	0.509927	T	0.43255	0.1239	L	0.39898	1.24	0.80722	D	1	D	0.67145	0.996	P	0.53988	0.739	T	0.45293	-0.9271	10	0.02654	T	1	-14.9243	9.7674	0.40570	0.0:1.0:0.0:0.0	.	728	C9JFD3	.	E	728	ENSP00000384018:G728E;ENSP00000348551:G728E;ENSP00000402808:G728E	ENSP00000348551:G728E	G	-	2	0	NCOR2	123424947	0.992000	0.36948	1.000000	0.80357	0.998000	0.95712	1.306000	0.33505	1.354000	0.45846	0.561000	0.74099	GGG		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2		NM_006312	
NDRG2	57447	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	21486946	21486946	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr14:21486946G>T	ENST00000556147.1	-	12	1729	c.789C>A	c.(787-789)gaC>gaA	p.D263E	NDRG2_ENST00000298684.5_Missense_Mutation_p.D220E|NDRG2_ENST00000553503.1_Missense_Mutation_p.D249E|NDRG2_ENST00000554277.1_5'Flank|NDRG2_ENST00000554143.1_Missense_Mutation_p.D249E|NDRG2_ENST00000397856.3_Missense_Mutation_p.D249E|NDRG2_ENST00000554104.1_Missense_Mutation_p.D176E|NDRG2_ENST00000397853.3_Missense_Mutation_p.D263E|NDRG2_ENST00000555158.1_Missense_Mutation_p.D249E|NDRG2_ENST00000397844.2_Missense_Mutation_p.D249E|NDRG2_ENST00000360463.3_Missense_Mutation_p.D249E|NDRG2_ENST00000397858.1_Missense_Mutation_p.D263E|NDRG2_ENST00000350792.3_Missense_Mutation_p.D249E|NDRG2_ENST00000397855.3_Missense_Mutation_p.D220E|NDRG2_ENST00000403829.3_Missense_Mutation_p.D259E|NDRG2_ENST00000397847.2_Intron|NDRG2_ENST00000298687.5_Missense_Mutation_p.D263E|NDRG2_ENST00000397851.2_Missense_Mutation_p.D263E			Q9UN36	NDRG2_HUMAN	NDRG family member 2	263					cell differentiation (GO:0030154)|negative regulation of cytokine production (GO:0001818)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of platelet-derived growth factor production (GO:0090361)|regulation of vascular endothelial growth factor production (GO:0010574)|substantia nigra development (GO:0021762)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)		p.D263E(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GAGGTGCTTGGTCTCCTACCA	0.552																																																	1	Substitution - Missense(1)	kidney(1)											132.0	106.0	115.0					14																	21486946		2203	4300	6503	SO:0001583	missense	57447			AB033074	CCDS9564.1, CCDS9565.1, CCDS61384.1, CCDS61386.1, CCDS73613.1	14q11.2	2008-07-09			ENSG00000165795	ENSG00000165795			14460	protein-coding gene	gene with protein product		605272				10831399	Standard	NM_201535		Approved	KIAA1248, SYLD	uc001vyx.3	Q9UN36	OTTHUMG00000029619	ENST00000556147.1:c.789C>A	14.37:g.21486946G>T	ENSP00000451712:p.Asp263Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B3KUE3|B4DE86|B7WP11|B7WPD5|D3DS07|D3DS10|Q567T1|Q68DW2|Q86U08|Q86U46|Q96FD3|Q96FT0|Q96JU0|Q96PN0|Q9BQH5|Q9ULH2	Missense_Mutation	SNP	ENST00000556147.1	37	CCDS9565.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.248275|4.248275	0.80024|0.80024	.|.	.|.	ENSG00000165795|ENSG00000165795	ENST00000298687;ENST00000350792;ENST00000554770;ENST00000397858;ENST00000554104;ENST00000555158;ENST00000553503;ENST00000397853;ENST00000360463;ENST00000556147;ENST00000554143;ENST00000397851;ENST00000397856;ENST00000397855;ENST00000298684;ENST00000397844;ENST00000403829;ENST00000556008;ENST00000556366;ENST00000556974;ENST00000555026|ENST00000553593	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.27557|.	1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;1.66;2.17;2.17;1.66;1.66;1.66;1.66;1.66;1.66|.	5.92|5.92	5.03|5.03	0.67393|0.67393	.|.	0.091884|.	0.64402|.	D|.	0.000001|.	T|T	0.62829|0.62829	0.2460|0.2460	L|L	0.52823|0.52823	1.66|1.66	0.54753|0.54753	D|D	0.999986|0.999986	P;P;P;D;D|.	0.65815|.	0.911;0.891;0.891;0.966;0.995|.	P;B;B;P;P|.	0.59703|.	0.485;0.352;0.352;0.594;0.862|.	T|T	0.60905|0.60905	-0.7170|-0.7170	10|5	0.87932|.	D|.	0|.	-22.8774|-22.8774	12.7625|12.7625	0.57372|0.57372	0.0789:0.0:0.9211:0.0|0.0789:0.0:0.9211:0.0	.|.	259;249;244;263;220|.	B4DE86;Q9UN36-5;G3V3N4;Q9UN36;Q9UN36-4|.	.;.;.;NDRG2_HUMAN;.|.	E|N	263;249;244;263;176;249;249;263;249;263;249;263;249;220;220;249;259;249;176;249;249|179	ENSP00000298687:D263E;ENSP00000344620:D249E;ENSP00000380956:D263E;ENSP00000452216:D176E;ENSP00000452038:D249E;ENSP00000452306:D249E;ENSP00000380951:D263E;ENSP00000353649:D249E;ENSP00000451712:D263E;ENSP00000452006:D249E;ENSP00000380949:D263E;ENSP00000380954:D249E;ENSP00000380953:D220E;ENSP00000298684:D220E;ENSP00000380943:D249E;ENSP00000385889:D259E;ENSP00000451966:D249E;ENSP00000452413:D176E;ENSP00000452362:D249E;ENSP00000451274:D249E|.	ENSP00000298684:D220E|.	D|T	-|-	3|2	2|0	NDRG2|NDRG2	20556786|20556786	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.139000|2.139000	0.42149|0.42149	1.509000|1.509000	0.48786|0.48786	0.655000|0.655000	0.94253|0.94253	GAC|ACC		0.552	NDRG2-013	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411717.1			
NIPBL	25836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	37006527	37006527	+	Silent	SNP	G	G	A	rs367925827		TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:37006527G>A	ENST00000282516.8	+	17	4423	c.3924G>A	c.(3922-3924)gcG>gcA	p.A1308A	NIPBL_ENST00000448238.2_Silent_p.A1308A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1308					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.A1308A(2)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAAAATCAGCGGATGCTTGTC	0.338																																																	2	Substitution - coding silent(2)	kidney(2)						G	,	0,4406		0,0,2203	120.0	112.0	115.0		3924,3924	-0.1	1.0	5		115	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous,coding-synonymous	NIPBL	NM_015384.4,NM_133433.3	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	1308/2698,1308/2805	37006527	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	25836			AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.3924G>A	5.37:g.37006527G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Silent	SNP	ENST00000282516.8	37	CCDS3920.1																																																																																				0.338	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		NM_015384	
NLRP10	338322	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	7981799	7981799	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr11:7981799A>C	ENST00000328600.2	-	2	1521	c.1360T>G	c.(1360-1362)Ttg>Gtg	p.L454V		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	454	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to fungus (GO:0050832)|defense response to Gram-negative bacterium (GO:0050829)|dendritic cell migration (GO:0036336)|helper T cell enhancement of adaptive immune response (GO:0035397)|innate immune response (GO:0045087)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 type immune response (GO:2000318)	cytoplasm (GO:0005737)|extrinsic component of plasma membrane (GO:0019897)	ATP binding (GO:0005524)	p.L454V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCAAGTCCCAATTGGTAGTCG	0.483																																																	1	Substitution - Missense(1)	kidney(1)											106.0	117.0	113.0					11																	7981799		2201	4296	6497	SO:0001583	missense	338322			AY154465	CCDS7784.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000182261		"""Nucleotide-binding domain and leucine rich repeat containing"""	21464	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 10"""	609662	"""NACHT, leucine rich repeat and PYD containing 10"""	NALP10		12563287	Standard	NM_176821		Approved	NOD8, PAN5, Pynod, CLR11.1	uc001mfv.1	Q86W26		ENST00000328600.2:c.1360T>G	11.37:g.7981799A>C	ENSP00000327763:p.Leu454Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3C4|Q6JGT0	Missense_Mutation	SNP	ENST00000328600.2	37	CCDS7784.1	.	.	.	.	.	.	.	.	.	.	A	2.879	-0.232300	0.05983	.	.	ENSG00000182261	ENST00000328600	D	0.87491	-2.26	4.86	-2.1	0.07210	.	1.377200	0.05139	N	0.493853	T	0.70988	0.3287	N	0.08118	0	0.09310	N	1	B	0.21821	0.061	B	0.22753	0.041	T	0.58929	-0.7549	10	0.62326	D	0.03	.	1.0833	0.01647	0.1449:0.3271:0.2734:0.2546	.	454	Q86W26	NAL10_HUMAN	V	454	ENSP00000327763:L454V	ENSP00000327763:L454V	L	-	1	2	NLRP10	7938375	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.057000	0.14279	-0.249000	0.09569	-2.311000	0.00256	TTG		0.483	NLRP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385705.1		NM_176821	
NOTCH3	4854	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15298087	15298087	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:15298087C>A	ENST00000263388.2	-	11	1744	c.1669G>T	c.(1669-1671)Ggt>Tgt	p.G557C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	557	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.G557C(2)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACGCAGCGACCATGGTGGCAT	0.652																																																	2	Substitution - Missense(2)	kidney(2)											79.0	64.0	69.0					19																	15298087		2203	4300	6503	SO:0001583	missense	4854			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1669G>T	19.37:g.15298087C>A	ENSP00000263388:p.Gly557Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.453697	0.84209	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	D	0.97480	-4.4	4.51	4.51	0.55191	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.99293	0.9753	H	0.99800	4.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98150	1.0441	9	0.87932	D	0	.	16.3643	0.83308	0.0:1.0:0.0:0.0	.	560;557	Q59FL3;Q9UM47	.;NOTC3_HUMAN	C	557;559	ENSP00000263388:G557C	ENSP00000263388:G557C	G	-	1	0	NOTCH3	15159087	0.999000	0.42202	0.995000	0.50966	0.815000	0.46073	4.877000	0.63086	2.215000	0.71742	0.655000	0.94253	GGT		0.652	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1		NM_000435	
PCDHGB4	8641	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140768184	140768184	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:140768184G>C	ENST00000519479.1	+	1	733	c.733G>C	c.(733-735)Gac>Cac	p.D245H	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	245	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D245H(1)		endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCAGTCAAGACGTATACAG	0.522																																																	1	Substitution - Missense(1)	kidney(1)											185.0	184.0	184.0					5																	140768184		2040	4209	6249	SO:0001583	missense	8641			AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.733G>C	5.37:g.140768184G>C	ENSP00000428288:p.Asp245His	Somatic		WXS	Illumina HiSeq	Phase_I	O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	7.782	0.709689	0.15239	.	.	ENSG00000253953	ENST00000519479	T	0.01887	4.58	4.99	4.11	0.48088	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.08268	0.0206	M	0.76433	2.335	0.09310	N	1	D;D	0.61080	0.989;0.981	D;P	0.63381	0.914;0.823	T	0.28170	-1.0052	9	0.56958	D	0.05	.	3.8292	0.08867	0.1505:0.1299:0.5855:0.1341	.	245;245	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	H	245	ENSP00000428288:D245H	ENSP00000428288:D245H	D	+	1	0	PCDHGB4	140748368	0.000000	0.05858	0.128000	0.21923	0.020000	0.10135	-0.323000	0.07997	1.219000	0.43474	0.655000	0.94253	GAC		0.522	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1		NM_003736	
PENK	5179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	57353861	57353861	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr8:57353861T>G	ENST00000314922.3	-	2	850	c.774A>C	c.(772-774)gaA>gaC	p.E258D	PENK_ENST00000523274.1_5'Flank|PENK_ENST00000451791.2_Missense_Mutation_p.E258D	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	258					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.E258D(1)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CGTATCTTTTTTCCATTTCAG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											77.0	87.0	84.0					8																	57353861		2203	4300	6503	SO:0001583	missense	5179				CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.774A>C	8.37:g.57353861T>G	ENSP00000324248:p.Glu258Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.176551	0.57692	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.75050	-0.9;-0.9	5.91	-5.22	0.02806	.	0.095596	0.64402	D	0.000001	T	0.60637	0.2284	L	0.46885	1.475	0.80722	D	1	B	0.21606	0.058	B	0.21917	0.037	T	0.36432	-0.9748	10	0.51188	T	0.08	-17.822	10.1985	0.43069	0.0982:0.539:0.0:0.3628	.	258	P01210	PENK_HUMAN	D	258	ENSP00000324248:E258D;ENSP00000400894:E258D	ENSP00000324248:E258D	E	-	3	2	PENK	57516415	0.953000	0.32496	0.931000	0.37212	0.991000	0.79684	0.000000	0.12993	-0.584000	0.05913	0.533000	0.62120	GAA		0.493	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1			
PRRG3	79057	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	150868604	150868604	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chrX:150868604A>T	ENST00000370353.3	+	3	534	c.144A>T	c.(142-144)gaA>gaT	p.E48D	PRRG3_ENST00000538575.1_Missense_Mutation_p.E48D|PRRG3_ENST00000370354.1_Missense_Mutation_p.E56D			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	48	Gla. {ECO:0000255|PROSITE- ProRule:PRU00463}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.E48D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					AGGTCAAGGAAGTGTTTGAGA	0.552																																																	1	Substitution - Missense(1)	kidney(1)											76.0	71.0	73.0					X																	150868604		2203	4300	6503	SO:0001583	missense	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.144A>T	X.37:g.150868604A>T	ENSP00000359378:p.Glu48Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A1A523|A1A575|Q8N2N6	Missense_Mutation	SNP	ENST00000370353.3	37	CCDS14699.1	.	.	.	.	.	.	.	.	.	.	A	19.78	3.891934	0.72524	.	.	ENSG00000130032	ENST00000448726;ENST00000538575;ENST00000370354;ENST00000370353	D;D;D;D	0.99730	-6.56;-6.56;-6.56;-6.56	4.5	1.6	0.23607	Gamma-carboxyglutamic acid-rich (GLA) domain (6);Coagulation factor, subgroup, Gla domain (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	M	0.91768	3.24	0.40914	D	0.984256	D	0.76494	0.999	D	0.70227	0.968	D	0.99799	1.1035	10	0.87932	D	0	-22.565	6.376	0.21507	0.4892:0.0:0.5108:0.0	.	48	Q9BZD7	TMG3_HUMAN	D	48;48;56;48	ENSP00000411509:E48D;ENSP00000440217:E48D;ENSP00000359379:E56D;ENSP00000359378:E48D	ENSP00000359378:E48D	E	+	3	2	PRRG3	150619260	0.980000	0.34600	1.000000	0.80357	0.981000	0.71138	0.446000	0.21694	0.335000	0.23614	-0.395000	0.06472	GAA		0.552	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1		NM_024082	
RICTOR	253260	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	38955727	38955727	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:38955727C>T	ENST00000357387.3	-	26	2609	c.2579G>A	c.(2578-2580)gGt>gAt	p.G860D	RICTOR_ENST00000296782.5_Missense_Mutation_p.G860D|RICTOR_ENST00000503698.1_5'UTR	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2									p.G860D(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATAGTTATCACCATCAACAGG	0.338																																																	1	Substitution - Missense(1)	kidney(1)											172.0	164.0	167.0					5																	38955727		2203	4300	6503	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.2579G>A	5.37:g.38955727C>T	ENSP00000349959:p.Gly860Asp	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000357387.3	37	CCDS34148.1	.	.	.	.	.	.	.	.	.	.	C	34	5.353857	0.95830	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.63744	-0.06;0.77	5.64	5.64	0.86602	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81564	0.4849	M	0.79805	2.47	0.80722	D	1	B;D	0.89917	0.244;1.0	B;D	0.91635	0.087;0.999	T	0.83353	-0.0002	10	0.87932	D	0	-15.1367	19.6864	0.95981	0.0:1.0:0.0:0.0	.	860;860	Q6R327;Q6R327-3	RICTR_HUMAN;.	D	860	ENSP00000349959:G860D;ENSP00000296782:G860D	ENSP00000296782:G860D	G	-	2	0	RICTOR	38991484	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.428000	0.80296	2.646000	0.89796	0.650000	0.86243	GGT		0.338	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366985.1		NM_152756	
SCARB1	949	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	125267275	125267275	+	Intron	SNP	A	A	G			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr12:125267275A>G	ENST00000415380.2	-	11	1777				SCARB1_ENST00000261693.6_Missense_Mutation_p.M495T|SCARB1_ENST00000376788.1_Missense_Mutation_p.M395T|SCARB1_ENST00000546215.1_Missense_Mutation_p.M467T|SCARB1_ENST00000339570.5_Intron|SCARB1_ENST00000535005.1_5'UTR			Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1						adhesion of symbiont to host (GO:0044406)|androgen biosynthetic process (GO:0006702)|blood vessel endothelial cell migration (GO:0043534)|cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|detection of lipopolysaccharide (GO:0032497)|endothelial cell proliferation (GO:0001935)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|recognition of apoptotic cell (GO:0043654)|regulation of phagocytosis (GO:0050764)|regulation of phosphatidylcholine catabolic process (GO:0010899)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|viral process (GO:0016032)|wound healing (GO:0042060)	caveola (GO:0005901)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein binding (GO:0034185)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor activity (GO:0070506)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.M495T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGCTGATGTCATCAGGGATTC	0.488																																																	1	Substitution - Missense(1)	kidney(1)											109.0	104.0	106.0					12																	125267275		2203	4300	6503	SO:0001627	intron_variant	949			Z22555	CCDS9259.1, CCDS45008.1	12q24.32	2008-08-05	2002-09-06	2002-09-06	ENSG00000073060	ENSG00000073060			1664	protein-coding gene	gene with protein product		601040	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 1"""	CD36L1		7689561	Standard	NM_001082959		Approved	SRB1, CLA-1, CLA1, SR-BI	uc001ugm.4	Q8WTV0	OTTHUMG00000168544	ENST00000415380.2:c.1651+3377T>C	12.37:g.125267275A>G		Somatic		WXS	Illumina HiSeq	Phase_I	F8W8N0|Q14016|Q52LZ5|Q6KFX4	Missense_Mutation	SNP	ENST00000415380.2	37		.	.	.	.	.	.	.	.	.	.	A	14.12	2.440480	0.43326	.	.	ENSG00000073060	ENST00000261693;ENST00000376788;ENST00000546215	T;T;T	0.68181	0.21;-0.02;-0.31	5.24	5.24	0.73138	.	40.560100	0.00166	N	0.000000	T	0.81616	0.4860	M	0.68317	2.08	0.80722	D	1	D;D	0.57899	0.967;0.981	D;D	0.69142	0.916;0.962	T	0.63422	-0.6641	10	0.26408	T	0.33	-13.2231	11.5304	0.50607	1.0:0.0:0.0:0.0	.	467;495	B7ZKQ9;Q8WTV0-2	.;.	T	495;395;467	ENSP00000261693:M495T;ENSP00000365984:M395T;ENSP00000442862:M467T	ENSP00000261693:M495T	M	-	2	0	SCARB1	123833228	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.781000	0.62389	1.973000	0.57446	0.459000	0.35465	ATG		0.488	SCARB1-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000400165.1		NM_005505	
SHISA2	387914	hgsc.bcm.edu	37	13	26624935	26624935	+	Missense_Mutation	SNP	C	C	T	rs111516934	byFrequency	TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr13:26624935C>T	ENST00000319420.3	-	1	234	c.179G>A	c.(178-180)gGc>gAc	p.G60D	LINC00415_ENST00000439079.1_lincRNA	NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	60					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						GGCGTCGCCGCCGTCGAAGCG	0.741													C|||	550	0.109824	0.0068	0.1787	5008	,	,		13292	0.0784		0.172	False		,,,				2504	0.1687																0								C	ASP/GLY	94,3232		5,84,1574	4.0	4.0	4.0		179	3.4	1.0	13	dbSNP_132	4	937,5929		67,803,2563	yes	missense	SHISA2	NM_001007538.1	94	72,887,4137	TT,TC,CC		13.647,2.8262,10.1158	probably-damaging	60/296	26624935	1031,9161	1663	3433	5096	SO:0001583	missense	387914				CCDS31951.1	13q12.13	2013-07-31	2013-07-31	2008-04-01	ENSG00000180730	ENSG00000180730		"""Shisa homologs"""	20366	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 13"", ""transmembrane protein 46"", ""shisa homolog 2 (Xenopus laevis)"""	C13orf13, TMEM46			Standard	NM_001007538		Approved	bA398O19.2, PRO28631, WGAR9166, hShisa	uc001uqm.1	Q6UWI4	OTTHUMG00000016612	ENST00000319420.3:c.179G>A	13.37:g.26624935C>T	ENSP00000313079:p.Gly60Asp	Somatic		WXS	Illumina HiSeq	Phase_I	B9EH70|Q5W0G8	Missense_Mutation	SNP	ENST00000319420.3	37	CCDS31951.1	251	0.11492673992673992	3	0.006097560975609756	71	0.19613259668508287	46	0.08041958041958042	131	0.17282321899736147	C	16.46	3.130284	0.56721	0.028262	0.13647	ENSG00000180730	ENST00000319420	T	0.44083	0.93	4.3	3.44	0.39384	.	0.145388	0.46758	D	0.000272	T	0.00039	0.0001	N	0.21373	0.66	0.27138	P	0.9617204	B	0.15473	0.013	B	0.17098	0.017	T	0.13202	-1.0518	9	0.32370	T	0.25	-19.9823	4.0104	0.09619	0.1679:0.5801:0.1626:0.0894	.	60	Q6UWI4	SHSA2_HUMAN	D	60	ENSP00000313079:G60D	ENSP00000313079:G60D	G	-	2	0	SHISA2	25522935	0.533000	0.26354	1.000000	0.80357	0.998000	0.95712	0.416000	0.21198	1.014000	0.39417	0.555000	0.69702	GGC		0.741	SHISA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044239.2		NM_001007538	
SIRT1	23411	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	69676090	69676091	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr10:69676090_69676091insA	ENST00000212015.6	+	9	2037_2038	c.1984_1985insA	c.(1984-1986)gaafs	p.E662fs	SIRT1_ENST00000403579.1_Frame_Shift_Ins_p.E359fs|SIRT1_ENST00000432464.1_Frame_Shift_Ins_p.E367fs|SIRT1_ENST00000406900.1_Frame_Shift_Ins_p.E359fs	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	662					angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TTCAGACTCTGAAGATGACGTC	0.391																																																	0																																										SO:0001589	frameshift_variant	23411			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1986dupA	10.37:g.69676092_69676092dupA	ENSP00000212015:p.Glu662fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Frame_Shift_Ins	INS	ENST00000212015.6	37	CCDS7273.1																																																																																				0.391	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048296.1			
SLC6A17	388662	broad.mit.edu;ucsc.edu	37	1	110709707	110709708	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	GG	GG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr1:110709707_110709708delGG	ENST00000331565.4	+	2	641_642	c.156_157delGG	c.(154-159)gaggagfs	p.EE52fs	RP5-1028L10.1_ENST00000443008.1_RNA|RP5-1028L10.1_ENST00000418579.1_RNA|RP5-1028L10.1_ENST00000430098.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	52					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		AGGCGGTGGAGGAGGAGCTGGA	0.614																																																	0																																										SO:0001589	frameshift_variant	388662				CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.156_157delGG	1.37:g.110709707_110709708delGG	ENSP00000330199:p.Glu52fs	Somatic		WXS	Illumina GAIIx	Phase_I	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Frame_Shift_Del	DEL	ENST00000331565.4	37	CCDS30799.1																																																																																				0.614	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032550.2		XM_371280	
SPHKAP	80309	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	228881372	228881372	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:228881372C>G	ENST00000392056.3	-	7	4244	c.4198G>C	c.(4198-4200)Gat>Cat	p.D1400H	SPHKAP_ENST00000344657.5_Missense_Mutation_p.D1400H	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1400						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.D1400H(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTTTTAGAATCTAAAGGGCTG	0.453																																																	2	Substitution - Missense(2)	kidney(2)											89.0	94.0	92.0					2																	228881372		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4198G>C	2.37:g.228881372C>G	ENSP00000375909:p.Asp1400His	Somatic		WXS	Illumina HiSeq	Phase_I	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.031430	0.54790	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.13307	2.6;2.61	5.92	3.1	0.35709	.	0.606668	0.19118	N	0.122261	T	0.30448	0.0765	M	0.65975	2.015	0.19775	N	0.999958	D;B;D	0.76494	0.996;0.222;0.999	P;B;D	0.66716	0.717;0.042;0.946	T	0.05971	-1.0853	10	0.72032	D	0.01	.	8.8776	0.35354	0.0:0.7404:0.1237:0.136	.	431;1400;1400	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	H	1400	ENSP00000375909:D1400H;ENSP00000339886:D1400H	ENSP00000339886:D1400H	D	-	1	0	SPHKAP	228589616	0.280000	0.24249	0.002000	0.10522	0.009000	0.06853	2.224000	0.42945	0.373000	0.24621	0.655000	0.94253	GAT		0.453	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1		NM_030623	
SVIL	6840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	29769552	29769552	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr10:29769552T>C	ENST00000355867.4	-	29	6043	c.5291A>G	c.(5290-5292)tAt>tGt	p.Y1764C	SVIL_ENST00000375398.2_Missense_Mutation_p.Y1764C|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.Y678C|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.Y1338C|SVIL_ENST00000538146.1_Missense_Mutation_p.Y556C	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	1764					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)	p.Y1764C(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAGCCTGCTATAGTCGAATTC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											108.0	97.0	100.0					10																	29769552		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.5291A>G	10.37:g.29769552T>C	ENSP00000348128:p.Tyr1764Cys	Somatic		WXS	Illumina HiSeq	Phase_I	D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581418	0.65992	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393;ENST00000535994;ENST00000538146	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.54	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.42449	0.1203	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.988;0.997	D;D;D;D	0.76071	0.987;0.96;0.98;0.954	T	0.43097	-0.9412	10	0.62326	D	0.03	-16.7956	14.0434	0.64690	0.0:0.0:0.0:1.0	.	678;556;1338;1764	F5H2Q5;F5GXV0;O95425-2;O95425	.;.;.;SVIL_HUMAN	C	1338;1764;1764;678;718;556	ENSP00000364549:Y1338C;ENSP00000364547:Y1764C;ENSP00000348128:Y1764C;ENSP00000445472:Y678C;ENSP00000440343:Y556C	ENSP00000348128:Y1764C	Y	-	2	0	SVIL	29809558	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	7.774000	0.85478	1.895000	0.54865	0.459000	0.35465	TAT		0.557	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			
TBX19	9095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	168269666	168269666	+	Silent	SNP	C	C	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr1:168269666C>T	ENST00000367821.3	+	5	723	c.672C>T	c.(670-672)caC>caT	p.H224H		NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	224					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H224H(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TCAGAAATCACCTAAGAGACG	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											107.0	96.0	100.0					1																	168269666		2203	4300	6503	SO:0001819	synonymous_variant	9095			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.672C>T	1.37:g.168269666C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q52M53	Silent	SNP	ENST00000367821.3	37	CCDS1272.1	.	.	.	.	.	.	.	.	.	.	C	2.752	-0.259877	0.05791	.	.	ENSG00000143178	ENST00000431969;ENST00000441464	.	.	.	5.03	4.0	0.46444	.	.	.	.	.	T	0.26666	0.0652	.	.	.	.	.	.	.	.	.	.	.	.	T	0.13656	-1.0501	3	.	.	.	.	6.2235	0.20695	0.0:0.7164:0.0:0.2836	.	.	.	.	S	157;57	.	.	P	+	1	0	TBX19	166536290	0.924000	0.31332	1.000000	0.80357	0.347000	0.29111	1.102000	0.31050	2.295000	0.77249	0.650000	0.86243	CCT		0.458	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1		NM_005149	
TFEC	22797	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	115624462	115624462	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr7:115624462G>C	ENST00000265440.7	-	2	214	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	TFEC_ENST00000484212.1_Missense_Mutation_p.L102V|TFEC_ENST00000393485.1_Missense_Mutation_p.L12V|TFEC_ENST00000320239.7_Missense_Mutation_p.L12V	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	12	Necessary for transcriptional transactivation.				cellular response to heat (GO:0034605)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.L12V(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GACCATTTAAGAGTTGGATTG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											181.0	160.0	167.0					7																	115624462		2203	4300	6503	SO:0001583	missense	22797			D43945	CCDS5762.1, CCDS34738.1, CCDS59076.1	7q31.2	2013-05-21			ENSG00000105967	ENSG00000105967		"""Basic helix-loop-helix proteins"""	11754	protein-coding gene	gene with protein product		604732				9256061	Standard	NM_012252		Approved	TCFEC, TFECL, bHLHe34	uc003vhj.2	O14948	OTTHUMG00000023518	ENST00000265440.7:c.34C>G	7.37:g.115624462G>C	ENSP00000265440:p.Leu12Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8X5|Q5H9U8|Q709A4|Q8N6J9	Missense_Mutation	SNP	ENST00000265440.7	37	CCDS5762.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.844712	0.32606	.	.	ENSG00000105967	ENST00000265440;ENST00000320239;ENST00000393485;ENST00000484212	T;T;T;T	0.28255	1.88;1.62;1.82;2.39	5.09	2.14	0.27477	.	0.330391	0.27673	N	0.018322	T	0.33876	0.0878	L	0.34521	1.04	0.09310	N	0.999992	D;P;P;D	0.63880	0.993;0.837;0.649;0.962	P;P;B;B	0.58331	0.837;0.475;0.254;0.354	T	0.09422	-1.0675	10	0.49607	T	0.09	0.0	8.0378	0.30504	0.0842:0.3035:0.6123:0.0	.	102;12;12;12	B7Z757;O14948-3;O14948-2;O14948	.;.;.;TFEC_HUMAN	V	12;12;12;102	ENSP00000265440:L12V;ENSP00000318676:L12V;ENSP00000377125:L12V;ENSP00000417432:L102V	ENSP00000265440:L12V	L	-	1	0	TFEC	115411698	0.063000	0.20901	0.004000	0.12327	0.112000	0.19704	0.965000	0.29319	0.205000	0.20568	0.655000	0.94253	CTT		0.493	TFEC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000059839.4		NM_012252	
TGFBRAP1	9392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	105914998	105914998	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:105914998T>C	ENST00000393359.2	-	3	1279	c.853A>G	c.(853-855)Aag>Gag	p.K285E	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.K285E			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	285	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)	p.K285E(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TGGCCCTCCTTAAAGGGCAGC	0.433																																					Esophageal Squamous(183;794 2019 9730 21801 48859)												1	Substitution - Missense(1)	kidney(1)											123.0	116.0	118.0					2																	105914998		2203	4300	6503	SO:0001583	missense	9392			AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.853A>G	2.37:g.105914998T>C	ENSP00000377027:p.Lys285Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	37	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.184623	0.78677	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.04917	3.53;3.53	5.65	5.65	0.86999	Citron-like (2);	0.096296	0.64402	D	0.000001	T	0.09291	0.0229	L	0.56769	1.78	0.54753	D	0.999989	B	0.30870	0.298	B	0.34038	0.174	T	0.14364	-1.0475	10	0.09590	T	0.72	-30.9657	15.8909	0.79296	0.0:0.0:0.0:1.0	.	285	Q8WUH2	TGFA1_HUMAN	E	285	ENSP00000377027:K285E;ENSP00000258449:K285E	ENSP00000258449:K285E	K	-	1	0	TGFBRAP1	105281430	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.825000	0.86693	2.146000	0.66826	0.533000	0.62120	AAG		0.433	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2		NM_004257	
TIMM17A	10440	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	201926640	201926640	+	Splice_Site	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr1:201926640G>T	ENST00000367287.4	+	3	164	c.128G>T	c.(127-129)gGa>gTa	p.G43V		NM_006335.2	NP_006326.1	Q99595	TI17A_HUMAN	translocase of inner mitochondrial membrane 17 homolog A (yeast)	43					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial inner membrane presequence translocase complex (GO:0005744)	P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)	p.G43V(1)		kidney(1)|lung(3)|stomach(1)	5						TTGTTATAGGGAGTAAACCAC	0.363																																																	1	Substitution - Missense(1)	kidney(1)											85.0	87.0	86.0					1																	201926640		2203	4300	6503	SO:0001630	splice_region_variant	10440			AF106622	CCDS1417.1	1q32.1	2008-05-23			ENSG00000134375	ENSG00000134375			17315	protein-coding gene	gene with protein product		605057				8893850, 10339406	Standard	NM_006335		Approved	TIM17, TIM17A	uc001gxc.3	Q99595	OTTHUMG00000035806	ENST00000367287.4:c.127-1G>T	1.37:g.201926640G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RDM5|Q9BWF5	Missense_Mutation	SNP	ENST00000367287.4	37	CCDS1417.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125297	0.94429	.	.	ENSG00000134375	ENST00000367287	T	0.30981	1.51	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.68714	0.3031	H	0.94462	3.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76323	-0.3001	10	0.87932	D	0	-0.9156	18.3732	0.90420	0.0:0.0:1.0:0.0	.	43	Q99595	TI17A_HUMAN	V	43	ENSP00000356256:G43V	ENSP00000356256:G43V	G	+	2	0	TIMM17A	200193263	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.989000	0.93506	2.941000	0.99782	0.655000	0.94253	GGA		0.363	TIMM17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087092.1		NM_006335	Missense_Mutation
TNK1	8711	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	7291994	7291994	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr17:7291994G>A	ENST00000576812.1	+	11	2131	c.1762G>A	c.(1762-1764)Gat>Aat	p.D588N	TNK1_ENST00000311668.2_Missense_Mutation_p.D583N|TNK1_ENST00000570896.1_Missense_Mutation_p.D583N	NM_001251902.1	NP_001238831.1			tyrosine kinase, non-receptor, 1									p.D588Y(1)|p.D588N(1)		central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(2)|pancreas(1)	16		Prostate(122;0.157)				CCTCTTGTCCGATCCTGAGTT	0.592																																																	2	Substitution - Missense(2)	kidney(2)											39.0	43.0	42.0					17																	7291994		1920	4147	6067	SO:0001583	missense	8711			U43408	CCDS45602.1, CCDS58510.1	17p13.1	2005-09-22				ENSG00000174292			11940	protein-coding gene	gene with protein product		608076				8632913	Standard	NM_003985		Approved		uc002ggi.4	Q13470		ENST00000576812.1:c.1762G>A	17.37:g.7291994G>A	ENSP00000459799:p.Asp588Asn	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000576812.1	37	CCDS58510.1	.	.	.	.	.	.	.	.	.	.	G	13.21	2.167693	0.38315	.	.	ENSG00000174292	ENST00000311668	T	0.77620	-1.11	5.0	0.96	0.19631	.	0.414645	0.20788	N	0.085680	T	0.82125	0.4969	L	0.54323	1.7	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.985	T	0.71994	-0.4424	10	0.59425	D	0.04	.	8.7905	0.34848	0.274:0.0:0.726:0.0	.	583;588	Q13470-2;Q13470	.;TNK1_HUMAN	N	583	ENSP00000312309:D583N	ENSP00000312309:D583N	D	+	1	0	TNK1	7232718	0.908000	0.30866	0.003000	0.11579	0.358000	0.29455	1.707000	0.37888	0.014000	0.14944	-0.302000	0.09304	GAT		0.592	TNK1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000440832.2		NM_003985	
TPPP	11076	broad.mit.edu;hgsc.bcm.edu	37	5	678108	678108	+	Nonsense_Mutation	SNP	G	G	T	rs375949324		TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr5:678108G>T	ENST00000360578.5	-	2	189	c.68C>A	c.(67-69)tCg>tAg	p.S23*	CTD-2589H19.6_ENST00000607068.1_RNA	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	23	Mediates interaction with LIMK1.				microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)	p.S23*(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CCGGTCCTTCGAGGGGTCCCC	0.657																																																	1	Substitution - Nonsense(1)	kidney(1)											11.0	14.0	13.0					5																	678108		2193	4295	6488	SO:0001587	stop_gained	11076			AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.68C>A	5.37:g.678108G>T	ENSP00000353785:p.Ser23*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000360578.5	37	CCDS3856.1	.	.	.	.	.	.	.	.	.	.	g	15.91	2.971955	0.53614	.	.	ENSG00000171368	ENST00000360578	.	.	.	5.32	2.24	0.28232	.	0.759976	0.12180	N	0.492179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.7698	9.6319	0.39785	0.0:0.2906:0.5592:0.1502	.	.	.	.	X	23	.	ENSP00000353785:S23X	S	-	2	0	TPPP	731108	0.032000	0.19561	0.000000	0.03702	0.081000	0.17604	2.167000	0.42415	0.558000	0.29135	0.561000	0.74099	TCG		0.657	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3		NM_007030	
TUBB1	81027	broad.mit.edu;ucsc.edu	37	20	57598805	57598805	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr20:57598805A>T	ENST00000217133.1	+	4	592	c.323A>T	c.(322-324)gAg>gTg	p.E108V		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	108					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.E108V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Cabazitaxel(DB06772)|Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	CACTACACGGAGGGAGCCGAG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											83.0	91.0	88.0					20																	57598805		2203	4300	6503	SO:0001583	missense	81027			AJ292757	CCDS13475.1	20q13.32	2014-09-17	2011-10-10		ENSG00000101162	ENSG00000101162		"""Tubulins"""	16257	protein-coding gene	gene with protein product	"""class VI beta-tubulin"""	612901	"""tubulin, beta 1"""				Standard	NM_030773		Approved	dJ543J19.4	uc002yak.3	Q9H4B7	OTTHUMG00000032860	ENST00000217133.1:c.323A>T	20.37:g.57598805A>T	ENSP00000217133:p.Glu108Val	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000217133.1	37	CCDS13475.1	.	.	.	.	.	.	.	.	.	.	A	17.28	3.348492	0.61183	.	.	ENSG00000101162	ENST00000217133	T	0.66280	-0.2	5.39	5.39	0.77823	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.85682	D	0.000000	T	0.79246	0.4413	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.82259	-0.0546	10	0.87932	D	0	.	14.5622	0.68148	1.0:0.0:0.0:0.0	.	108	Q9H4B7	TBB1_HUMAN	V	108	ENSP00000217133:E108V	ENSP00000217133:E108V	E	+	2	0	TUBB1	57032200	1.000000	0.71417	0.995000	0.50966	0.278000	0.26855	9.297000	0.96120	2.050000	0.60909	0.533000	0.62120	GAG		0.587	TUBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079903.1		NM_030773	
VPS54	51542	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	64196097	64196097	+	Silent	SNP	T	T	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:64196097T>A	ENST00000272322.4	-	5	640	c.486A>T	c.(484-486)gtA>gtT	p.V162V	VPS54_ENST00000409558.4_Silent_p.V150V|VPS54_ENST00000354504.3_Silent_p.V45V			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	162					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)		p.V162V(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TTACCTTAGGTACTTGCTCCA	0.269																																																	1	Substitution - coding silent(1)	kidney(1)											80.0	80.0	80.0					2																	64196097		2202	4298	6500	SO:0001819	synonymous_variant	51542			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.486A>T	2.37:g.64196097T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Silent	SNP	ENST00000272322.4	37	CCDS33208.1																																																																																				0.269	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327062.2		NM_016516	
ZCCHC12	170261	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	117960298	117960298	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chrX:117960298G>T	ENST00000310164.2	+	4	1598	c.1091G>T	c.(1090-1092)aGt>aTt	p.S364I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	364					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.S364I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GACAACGAGAGTGACAAGGCC	0.512																																																	1	Substitution - Missense(1)	kidney(1)											100.0	84.0	89.0					X																	117960298		2203	4300	6503	SO:0001583	missense	170261			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.1091G>T	X.37:g.117960298G>T	ENSP00000308921:p.Ser364Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	G	8.509	0.865980	0.17250	.	.	ENSG00000174460	ENST00000310164	T	0.76448	-1.02	3.3	2.43	0.29744	Zinc finger, CCHC retroviral-type (1);	0.241071	0.22326	N	0.061526	T	0.78033	0.4220	M	0.75447	2.3	0.23975	N	0.996294	P	0.44429	0.835	P	0.47705	0.555	T	0.70124	-0.4958	10	0.87932	D	0	-6.2759	5.4215	0.16403	0.1572:0.0:0.8428:0.0	.	364	Q6PEW1	ZCH12_HUMAN	I	364	ENSP00000308921:S364I	ENSP00000308921:S364I	S	+	2	0	ZCCHC12	117844326	0.018000	0.18449	0.575000	0.28536	0.035000	0.12851	0.284000	0.18864	0.768000	0.33290	0.600000	0.82982	AGT		0.512	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1		NM_173798	
ZDHHC8	29801	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	20127299	20127299	+	Silent	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr22:20127299C>A	ENST00000334554.7	+	4	582	c.441C>A	c.(439-441)cgC>cgA	p.R147R	ZDHHC8_ENST00000405930.3_Silent_p.R147R|ZDHHC8_ENST00000320602.7_Intron|ZDHHC8_ENST00000468112.1_Intron	NM_013373.3	NP_037505.1	Q9ULC8	ZDHC8_HUMAN	zinc finger, DHHC-type containing 8	147					locomotory behavior (GO:0007626)|protein palmitoylation (GO:0018345)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R147R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					GAAACTATCGCTACTTCTTCC	0.617																																																	1	Substitution - coding silent(1)	kidney(1)											107.0	87.0	94.0					22																	20127299		2203	4300	6503	SO:0001819	synonymous_variant	29801			AB033118	CCDS13776.1, CCDS54502.1	22q11.21	2009-10-06		2003-02-28	ENSG00000099904	ENSG00000099904		"""Zinc fingers, DHHC-type"""	18474	protein-coding gene	gene with protein product		608784				10574462, 15184899	Standard	NM_013373		Approved	ZNF378, KIAA1292	uc002zrr.2	Q9ULC8	OTTHUMG00000150499	ENST00000334554.7:c.441C>A	22.37:g.20127299C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q2TGE9|Q6ICL1|Q6ZNF5|Q7Z6L9	Silent	SNP	ENST00000334554.7	37	CCDS13776.1																																																																																				0.617	ZDHHC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318564.1		NM_013373	
ZEB2	9839	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	145157350	145157350	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr2:145157350G>T	ENST00000558170.2	-	8	2588	c.1404C>A	c.(1402-1404)gaC>gaA	p.D468E	ZEB2_ENST00000303660.4_Missense_Mutation_p.D468E|ZEB2_ENST00000539609.3_Missense_Mutation_p.D444E|ZEB2_ENST00000409487.3_Missense_Mutation_p.D468E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	468	SMAD-MH2 binding domain. {ECO:0000250}.				cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.D468E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AAACAGTATTGTCCACAATCT	0.418																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	kidney(1)											95.0	96.0	96.0					2																	145157350		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1404C>A	2.37:g.145157350G>T	ENSP00000454157:p.Asp468Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	ENST00000558170.2	37	CCDS2186.1	.	.	.	.	.	.	.	.	.	.	G	13.76	2.333512	0.41297	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.53	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.87116	0.6097	L	0.47016	1.485	0.51767	D	0.999932	D;D;D;D	0.89917	1.0;0.984;0.984;0.992	D;D;D;D	0.91635	0.999;0.967;0.967;0.992	D	0.86078	0.1542	10	0.52906	T	0.07	-15.5716	12.2525	0.54605	0.1396:0.0:0.8604:0.0	.	444;333;467;468	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	E	444;468;468;468	ENSP00000443792:D444E;ENSP00000302501:D468E;ENSP00000386854:D468E;ENSP00000395496:D468E	ENSP00000302501:D468E	D	-	3	2	ZEB2	144873820	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.783000	0.47766	0.673000	0.31224	0.655000	0.94253	GAC		0.418	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5		NM_014795	
ZFAND1	79752	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	82626242	82626242	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr8:82626242A>G	ENST00000220669.5	-	6	409	c.391T>C	c.(391-393)Tgg>Cgg	p.W131R	ZFAND1_ENST00000521287.1_Missense_Mutation_p.W24R|ZFAND1_ENST00000523096.1_Missense_Mutation_p.W131R|ZFAND1_ENST00000522520.1_Missense_Mutation_p.W24R|ZFAND1_ENST00000517588.1_Missense_Mutation_p.W24R|ZFAND1_ENST00000519523.1_Missense_Mutation_p.W131R|ZFAND1_ENST00000521895.1_Missense_Mutation_p.W24R	NM_024699.2	NP_078975.2	Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	131							zinc ion binding (GO:0008270)	p.W131R(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GCACCTTTCCATCGTTTACTT	0.348																																																	1	Substitution - Missense(1)	kidney(1)											191.0	161.0	171.0					8																	82626242		2203	4300	6503	SO:0001583	missense	79752				CCDS6232.1, CCDS55250.1, CCDS55251.1	8q21.13	2006-07-07						"""Zinc fingers, AN1-type domain containing"""	25858	protein-coding gene	gene with protein product						12477932	Standard	NM_024699		Approved	FLJ14007	uc003ycj.2	Q8TCF1		ENST00000220669.5:c.391T>C	8.37:g.82626242A>G	ENSP00000220669:p.Trp131Arg	Somatic		WXS	Illumina HiSeq	Phase_I	E5RIG0|E5RJ99|Q658R7|Q6IA32|Q6PGQ6|Q9H810	Missense_Mutation	SNP	ENST00000220669.5	37	CCDS6232.1	.	.	.	.	.	.	.	.	.	.	G	5.860	0.342932	0.11069	.	.	ENSG00000104231	ENST00000523096;ENST00000220669;ENST00000522520;ENST00000521895;ENST00000521287;ENST00000520635;ENST00000517588;ENST00000519523;ENST00000520604;ENST00000523361;ENST00000517450;ENST00000521742;ENST00000518419;ENST00000520076	.	.	.	5.69	3.77	0.43336	.	0.000000	0.85682	N	0.000000	T	0.03871	0.0109	N	0.00038	-2.52	0.20764	N	0.99985	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34725	-0.9817	9	0.21540	T	0.41	.	6.7211	0.23330	0.135:0.0:0.6106:0.2544	.	131;131	E5RIG0;Q8TCF1	.;ZFAN1_HUMAN	R	131;131;24;24;24;24;24;131;24;24;24;24;24;24	.	ENSP00000220669:W131R	W	-	1	0	ZFAND1	82788797	0.616000	0.27035	0.999000	0.59377	0.994000	0.84299	0.902000	0.28459	0.742000	0.32697	-0.128000	0.14901	TGG		0.348	ZFAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379739.1		NM_024699	
ZFP82	284406	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	36884269	36884269	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:36884269G>C	ENST00000392161.3	-	5	1215	c.973C>G	c.(973-975)Ctt>Gtt	p.L325V	ZFP82_ENST00000392171.1_Missense_Mutation_p.L325V	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L325V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTACTCTAAGACCAGAGCCA	0.458																																																	1	Substitution - Missense(1)	kidney(1)											113.0	114.0	113.0					19																	36884269		2203	4300	6503	SO:0001583	missense	284406			AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.973C>G	19.37:g.36884269G>C	ENSP00000431265:p.Leu325Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.300642	0.40694	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.52983	0.64;0.64	4.38	3.34	0.38264	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.204840	0.24628	N	0.036920	T	0.65365	0.2684	M	0.78285	2.405	0.20764	N	0.999858	D	0.89917	1.0	D	0.91635	0.999	T	0.55579	-0.8119	10	0.87932	D	0	.	8.768	0.34715	0.1854:0.0:0.8146:0.0	.	325	Q8N141	ZFP82_HUMAN	V	325	ENSP00000431265:L325V;ENSP00000446080:L325V	ENSP00000431265:L325V	L	-	1	0	ZFP82	41576109	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.461000	0.53035	1.203000	0.43233	0.655000	0.94253	CTT		0.458	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2		NM_133466	
ZNF260	339324	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	37005751	37005751	+	Silent	SNP	A	A	G			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:37005751A>G	ENST00000523638.1	-	3	1511	c.390T>C	c.(388-390)caT>caC	p.H130H	ZNF260_ENST00000588993.1_Silent_p.H130H|ZNF260_ENST00000592282.1_Silent_p.H130H|ZNF260_ENST00000593142.1_Silent_p.H130H	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	130					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H130H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TGGTTCCTGTATGATTTTTCT	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											160.0	159.0	159.0					19																	37005751		2203	4300	6503	SO:0001819	synonymous_variant	339324			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.390T>C	19.37:g.37005751A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q0VF43	Silent	SNP	ENST00000523638.1	37	CCDS33003.1																																																																																				0.388	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109564.2		NM_001012756	
ZSCAN21	7589	hgsc.bcm.edu;ucsc.edu	37	7	99661552	99661552	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr7:99661552delA	ENST00000292450.4	+	4	898	c.734delA	c.(733-735)gaafs	p.E245fs	ZSCAN21_ENST00000456748.2_Frame_Shift_Del_p.E245fs|ZSCAN21_ENST00000543588.1_Frame_Shift_Del_p.E245fs|ZSCAN21_ENST00000477297.1_Intron	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	245					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GTAAACCTTGAAAATGAAAAA	0.448																																																	0													100.0	98.0	99.0					7																	99661552		2203	4300	6503	SO:0001589	frameshift_variant	7589			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.734delA	7.37:g.99661552delA	ENSP00000292450:p.Glu245fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2A6|D6W5T9|Q9H0B5	Frame_Shift_Del	DEL	ENST00000292450.4	37	CCDS5681.1																																																																																				0.448	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1		NM_145914	
AEBP1	165	broad.mit.edu	37	7	44152266	44152266	+	Missense_Mutation	SNP	C	C	T	rs144799697	byFrequency	TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr7:44152266C>T	ENST00000223357.3	+	18	2632	c.2327C>T	c.(2326-2328)gCc>gTc	p.A776V	AEBP1_ENST00000450684.2_Missense_Mutation_p.A351V|MIR4649_ENST00000582839.1_RNA	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	776	Interaction with PTEN. {ECO:0000250}.				cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.A776V(1)		NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						TACGATATGGCCCGCACGCCT	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		14297	0.0		0.0	False		,,,				2504	0.002																1	Substitution - Missense(1)	kidney(1)						C	VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	34.0	39.0	37.0		2327	5.1	1.0	7	dbSNP_134	37	21,8577	14.6+/-50.1	1,19,4279	yes	missense	AEBP1	NM_001129.3	64	1,21,6480	TT,TC,CC		0.2442,0.0454,0.1769	benign	776/1159	44152266	23,12981	2203	4299	6502	SO:0001583	missense	165			D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.2327C>T	7.37:g.44152266C>T	ENSP00000223357:p.Ala776Val	Somatic		WXS	Illumina GAIIx	Phase_I	Q14113|Q59ER7|Q6ZSC7|Q7KZ79	Missense_Mutation	SNP	ENST00000223357.3	37	CCDS5476.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339926	0.41398	4.54E-4	0.002442	ENSG00000106624	ENST00000223357;ENST00000450684	T;T	0.03413	3.94;3.94	5.08	5.08	0.68730	Peptidase M14, carboxypeptidase A (2);	0.283952	0.36665	N	0.002469	T	0.03136	0.0092	N	0.21282	0.65	0.29596	N	0.848067	P;B	0.35774	0.519;0.127	B;B	0.37989	0.112;0.262	T	0.35201	-0.9798	10	0.26408	T	0.33	-34.3984	7.9417	0.29963	0.1608:0.757:0.0:0.0821	.	351;776	Q8IUX7-2;Q8IUX7	.;AEBP1_HUMAN	V	776;351	ENSP00000223357:A776V;ENSP00000398878:A351V	ENSP00000223357:A776V	A	+	2	0	AEBP1	44118791	0.895000	0.30542	1.000000	0.80357	0.094000	0.18550	1.631000	0.37092	2.533000	0.85409	0.491000	0.48974	GCC		0.652	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2		NM_001129	
CYP2D7	1564	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	byFrequency	TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr22:42538870A>C	ENST00000428786.1	-	0	0				CYP2D7P1_ENST00000433992.1_RNA|CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000358097.4_RNA																							CCATAGCGCGACAGGAACACC	0.687													N|||	80	0.0159744	0.0023	0.0317	5008	,	,		11900	0.0109		0.0348	False		,,,				2504	0.0092																0																																												1564																															22.37:g.42538870A>C		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000428786.1	37		30	0.013736263736263736	1	0.0020325203252032522	5	0.013812154696132596	5	0.008741258741258742	19	0.025065963060686015	C	8.846	0.943329	0.18281	.	.	ENSG00000205702	ENST00000428297;ENST00000381321;ENST00000436260	.	.	.	3.26	3.26	0.37387	.	.	.	.	.	T	0.04724	0.0128	.	.	.	0.28613	N	0.908552	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.23154	-1.0196	7	0.02654	T	1	.	8.0614	0.30635	0.2422:0.7578:0.0:0.0	rs2982057	122;32	Q6XP50;F5H167	.;.	A	121;71;32	.	ENSP00000446103:S71A	S	-	1	0	CYP2D7P1	40868814	0.299000	0.24426	0.017000	0.16124	0.002000	0.02628	0.565000	0.23578	0.961000	0.38030	-0.290000	0.09829	TCG		0.687	RP4-669P10.16-001	KNOWN	basic|exp_conf	sense_intronic	sense_intronic	OTTHUMT00000320534.1			
MAFA	389692	broad.mit.edu	37	8	144511954	144511956	+	In_Frame_Del	DEL	TGG	TGG	-	rs552049497|rs141816879		TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	TGG	TGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr8:144511954_144511956delTGG	ENST00000333480.2	-	1	620_622	c.621_623delCCA	c.(619-624)caccat>cat	p.207_208HH>H	MAFA_ENST00000528185.1_5'UTR	NM_201589.3	NP_963883.2	Q8NHW3	MAFA_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A	207	His-rich.				insulin secretion (GO:0030073)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H208delH(3)		breast(1)|lung(1)|upper_aerodigestive_tract(2)	4	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.237)			CGCGCCGCCAtggtggtggtggt	0.744										HNSCC(29;0.082)																																							3	Deletion - In frame(3)	upper_aerodigestive_tract(2)|breast(1)																																								SO:0001651	inframe_deletion	389692			AY083269	CCDS34955.1	8q24.3	2013-07-09	2013-07-09			ENSG00000182759			23145	protein-coding gene	gene with protein product		610303					Standard	NM_201589		Approved	RIPE3b1, hMafA	uc003yyc.2	Q8NHW3		ENST00000333480.2:c.621_623delCCA	8.37:g.144511963_144511965delTGG	ENSP00000328364:p.His208del	Somatic		WXS	Illumina GAIIx	Phase_I		In_Frame_Del	DEL	ENST00000333480.2	37	CCDS34955.1																																																																																				0.744	MAFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381511.2		NM_201589	
NOTCH1	4851	broad.mit.edu	37	9	139396756	139396756	+	Silent	SNP	C	C	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr9:139396756C>A	ENST00000277541.6	-	28	5427	c.5352G>T	c.(5350-5352)cgG>cgT	p.R1784R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1784					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1785R(1)|p.R1784R(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGAGGGGCTCCCGCCGCTTCT	0.701			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	2	Substitution - coding silent(2)	kidney(2)											15.0	19.0	18.0					9																	139396756		1938	4120	6058	SO:0001819	synonymous_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.5352G>T	9.37:g.139396756C>A		Somatic		WXS	Illumina GAIIx	Phase_I	Q59ED8|Q5SXM3	Silent	SNP	ENST00000277541.6	37	CCDS43905.1																																																																																				0.701	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617	
PRX	57716	broad.mit.edu	37	19	40900148	40900148	+	Silent	SNP	G	G	T			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr19:40900148G>T	ENST00000324001.7	-	7	4381	c.4111C>A	c.(4111-4113)Cgg>Agg	p.R1371R	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1371					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R1371R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACCCGGCCCCGGCGACCCGAG	0.701																																																	1	Substitution - coding silent(1)	kidney(1)											18.0	22.0	21.0					19																	40900148		2198	4290	6488	SO:0001819	synonymous_variant	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.4111C>A	19.37:g.40900148G>T		Somatic		WXS	Illumina GAIIx	Phase_I	Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	CCDS33028.1																																																																																				0.701	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956	
RNF20	56254	broad.mit.edu	37	9	104324630	104324630	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr9:104324630A>C	ENST00000389120.3	+	20	2944	c.2854A>C	c.(2854-2856)Acc>Ccc	p.T952P		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	952					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T952P(1)		breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		ACGCTATGACACCCGCCAGCG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											134.0	115.0	121.0					9																	104324630		2203	4300	6503	SO:0001583	missense	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.2854A>C	9.37:g.104324630A>C	ENSP00000373772:p.Thr952Pro	Somatic		WXS	Illumina GAIIx	Phase_I	A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500751	0.85176	.	.	ENSG00000155827	ENST00000389120	D	0.86297	-2.1	5.87	5.87	0.94306	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.92443	0.7601	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92972	0.6398	10	0.72032	D	0.01	-14.9736	16.2377	0.82389	1.0:0.0:0.0:0.0	.	952	Q5VTR2	BRE1A_HUMAN	P	952	ENSP00000373772:T952P	ENSP00000373772:T952P	T	+	1	0	RNF20	103364451	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.919000	0.92770	2.371000	0.80710	0.533000	0.62120	ACC		0.448	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1		NM_019592	
SMG1P7	100506060	broad.mit.edu	37	16	70268081	70268081	+	RNA	SNP	G	G	A			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr16:70268081G>A	ENST00000459379.1	-	0	0																											TCTTACTGTTGGCTAAAAGGC	0.373																																																	0																																												0																															16.37:g.70268081G>A		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.373	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
VHL	7428	broad.mit.edu	37	3	10183829	10183830	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-A3-3385-01A-02D-1421-08	TCGA-A3-3385-11A-01D-1421-08	AC	AC	AC	-	AC	AC	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq;PacBio			Illumina GAIIx	0eb5edde-0ee0-4fc9-bc23-3015fc05258b	dad5faae-e650-4b72-8baa-5a7f732a136d	g.chr3:10183829_10183830delAC	ENST00000256474.2	+	1	1138_1139	c.298_299delAC	c.(298-300)acgfs	p.T100fs	VHL_ENST00000345392.2_Frame_Shift_Del_p.T100fs|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	100	Involved in binding to CCT complex.				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.T100fs*32(1)|p.?(1)|p.T100fs*59(1)|p.P97fs*59(1)|p.T100_G106>S(1)|p.Y98fs*27(1)|p.T100A(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)		GCCCTACCCAACGCTGCCGCCT	0.688		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"""	7	Deletion - Frameshift(3)|Insertion - Frameshift(2)|Substitution - Missense(1)|Complex - deletion inframe(1)	kidney(7)	GRCh37	CI066448	VHL	I																																				SO:0001589	frameshift_variant	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.298_299delAC	3.37:g.10183829_10183830delAC	ENSP00000256474:p.Thr100fs	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.688	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
