#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
ESPN	83715	broad.mit.edu	37	1	6505817	6505879	+	In_Frame_Del	DEL	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	rs530882053|rs139266211	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	-	-	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENST00000377828.1	+	7	1454_1516	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca	p.PPPPPPSFPPPPPPPGTQLPP430del	ESPN_ENST00000416731.1_5'Flank|RP1-202O8.2_ENST00000419034.1_RNA|ESPN_ENST00000461727.1_5'Flank	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	430	Pro-rich.				locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGGAAGcccacacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgcccccacccccacc	0.65																																						ENST00000377828.1		NA																	0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17						c.(1285-1350)acacccccaccacccccacccagcttccccccgccacccccgcccccaggcacccaactgccccca>aca		espin																																				SO:0001651	inframe_deletion	83715				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding	g.chr1:6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	1.37:g.6505817_6505879delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	ENSP00000367059:p.Pro430_Pro450del	True	False		Somatic	1				RP1-202O8.2_ENST00000419034.1_RNA	p.PPPPPPSFPPPPPPPGTQLPP430del	NM_031475.2	NP_113663.2	WXS	Illumina HiSeq	Phase_I	B1AK53	ESPN_HUMAN		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)	7	1454_1516	+	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)	430			Pro-rich.		Q6XYB2|Q9H0A2|Q9Y329	In_Frame_Del	DEL	ENST00000377828.1	37	c.1286_1348delCACCCCCACCACCCCCACCCAGCTTCCCCCCGCCACCCCCGCCCCCAGGCACCCAACTGCCCC	CCDS70.1																																																																																				0.650	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001887.3	0	NM_031475		1:6505817
PML	5371	broad.mit.edu	37	15	74327546	74327560	+	Intron	DEL	TCCTCGCCAGCCCAC	TCCTCGCCAGCCCAC	-	rs78340702|rs372539605	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	TCCTCGCCAGCCCAC	TCCTCGCCAGCCCAC	-	-	TCCTCGCCAGCCCAC	TCCTCGCCAGCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:74327546_74327560delTCCTCGCCAGCCCAC	ENST00000268058.3	+	7	1806				PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_In_Frame_Del_p.SSPAH592del|PML_ENST00000565898.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_In_Frame_Del_p.SSPAH544del|PML_ENST00000563500.1_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000569477.1_In_Frame_Del_p.LASPL606del|PML_ENST00000435786.2_3'UTR	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CGAGCCACAGTCCTCGCCAGCCCACTCCTCGCCAG	0.637			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000268059.6		NA		Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1744-1758)tcctcgccagcccacdel		promyelocytic leukemia			,,,,,,,,	8,4254		1,6,2124					,,,,,,,,	-1.9	0.0			107	16,8224		1,14,4105	no	coding,intron,intron,intron,utr-3,utr-3,coding,intron,intron	PML	NM_033250.2,NM_033249.2,NM_033247.2,NM_033246.2,NM_033244.3,NM_033240.2,NM_033239.2,NM_033238.2,NM_002675.3	,,,,,,,,	2,20,6229	A1A1,A1R,RR		0.1942,0.1877,0.192	,,,,,,,,	,,,,,,,,		24,12478				SO:0001627	intron_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74327546_74327560delTCCTCGCCAGCCCAC	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1710+675TCCTCGCCAGCCCAC>-	15.37:g.74327546_74327560delTCCTCGCCAGCCCAC		False	False		Somatic	1				PML_ENST00000569965.1_Intron|PML_ENST00000569477.1_In_Frame_Del_p.LASPL606del|PML_ENST00000435786.2_3'UTR|PML_ENST00000436891.3_3'UTR|PML_ENST00000395135.3_Intron|PML_ENST00000354026.6_In_Frame_Del_p.SSPAH544del|PML_ENST00000359928.4_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000563500.1_3'UTR	p.SSPAH592del	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	WXS	Illumina HiSeq	Phase_I	P29590	PML_HUMAN			8	1840_1854	+			44					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	In_Frame_Del	DEL	ENST00000268058.3	37	c.1744_1758delTCCTCGCCAGCCCAC	CCDS10255.1																																																																																				0.637	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	0	NM_002675		15:74327546
AXDND1	126859	broad.mit.edu	37	1	179504035	179504040	+	In_Frame_Del	DEL	AAGAAC	AAGAAC	-	rs200097954|rs368406759|rs79330752|rs6425573	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	AAGAAC	AAGAAC	-	-	AAGAAC	AAGAAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:179504035_179504040delAAGAAC	ENST00000367618.3	+	25	3356_3361	c.2969_2974delAAGAAC	c.(2968-2976)gaagaacaa>gaa	p.EQ991del		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	991	Glu-rich.		E -> Q (in dbSNP:rs6425573).					p.E991_Q992delEQ(1)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						aaagaagaagaagaacaacaagaaga	0.316																																						ENST00000367618.3		NA																	1	Deletion - In frame(1)	p.E991_Q992delEQ(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(2968-2976)gaagaacaa>gaa		axonemal dynein light chain domain containing 1				750,3386		64,622,1382						-7.3	0.0		dbSNP_131	50	2737,5481		321,2095,1693	no	coding	AXDND1	NM_144696.4		385,2717,3075	A1A1,A1R,RR		33.3049,18.1335,28.2257				3487,8867				SO:0001651	inframe_deletion	126859							g.chr1:179504035_179504040delAAGAAC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.2969_2974delAAGAAC	1.37:g.179504035_179504040delAAGAAC	ENSP00000356590:p.Glu991_Gln992del	True	False		Somatic	1					p.EQ991del	NM_144696.4	NP_653297.3	WXS	Illumina HiSeq	Phase_I	Q5T1B0	AXDN1_HUMAN			25	3356_3361	+			991		E -> Q (in dbSNP:rs6425573).	Glu-rich.		Q6AWB2|Q96LJ3|Q96M01	In_Frame_Del	DEL	ENST00000367618.3	37	c.2969_2974delAAGAAC	CCDS30948.1																																																																																				0.316	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	0	NM_144696		1:179504035
TMEM245	23731	broad.mit.edu	37	9	111822709	111822709	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:111822709C>T	ENST00000374586.3	-	11	1678	c.1647G>A	c.(1645-1647)aaG>aaA	p.K549K		NM_032012.3	NP_114401.2	Q9H330	TM245_HUMAN	transmembrane protein 245	549						integral component of membrane (GO:0016021)											TATTGTTCACCTTATCTCCTA	0.338																																						ENST00000374586.3		NA																	0					NA						c.(1645-1647)aaG>aaA		transmembrane protein 245							124.0	126.0	126.0					9																	111822709		1828	4081	5909	SO:0001819	synonymous_variant	23731					integral to membrane		g.chr9:111822709C>T	AF153415	CCDS43858.1	9q31	2012-03-06	2012-03-06	2012-03-06	ENSG00000106771	ENSG00000106771			1363	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 5"""	C9orf5		10564813	Standard	NM_032012		Approved	CG-2	uc004bdt.4	Q9H330	OTTHUMG00000020469	ENST00000374586.3:c.1647G>A	9.37:g.111822709C>T		False	False		Somatic	0					p.K549K	NM_032012.3	NP_114401.2	WXS	Illumina HiSeq	Phase_I	Q9H330	CI005_HUMAN			11	1678	-			549					B4DSW7|Q5JTQ5|Q5SS43|Q6ZME3|Q8NDJ5|Q96CG6	Silent	SNP	ENST00000374586.3	37	c.1647G>A	CCDS43858.1	.	.	.	.	.	.	.	.	.	.	C	9.154	1.016895	0.19355	.	.	ENSG00000106771	ENST00000413712	.	.	.	6.05	1.75	0.24633	.	.	.	.	.	T	0.58308	0.2113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52411	-0.8579	4	.	.	.	-13.5055	9.6538	0.39914	0.0:0.5978:0.0:0.4022	.	.	.	.	S	142	.	.	G	-	1	0	C9orf5	110862530	0.997000	0.39634	0.985000	0.45067	0.922000	0.55478	0.488000	0.22371	0.460000	0.27045	-0.143000	0.13931	GGT		0.338	TMEM245-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053587.2	0	NM_032012		9:111822709
ZBTB20	26137	broad.mit.edu	37	3	114070605	114070605	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:114070605G>A	ENST00000474710.1	-	4	498	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ZBTB20_ENST00000357258.3_Missense_Mutation_p.T34M|ZBTB20-AS1_ENST00000467304.1_RNA|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T34M|ZBTB20-AS1_ENST00000496219.1_RNA|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T34M|ZBTB20-AS1_ENST00000475939.1_RNA|ZBTB20_ENST00000462705.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T34M	NM_001164342.1	NP_001157814.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	107	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.T34M(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATGCGCACCGTTACGTCACA	0.602																																					NSCLC(69;748 1344 9802 11203 30933)	ENST00000462705.1		NA																	1	Substitution - Missense(1)	p.T34M(1)	endometrium(1)	breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48						c.(100-102)aCg>aTg		zinc finger and BTB domain containing 20							56.0	56.0	56.0					3																	114070605		2203	4300	6503	SO:0001583	missense	26137				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:114070605G>A	AF139460	CCDS2981.1, CCDS54626.1	3q13.2	2013-01-08	2004-07-16	2004-07-16	ENSG00000181722	ENSG00000181722		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13503	protein-coding gene	gene with protein product		606025	"""zinc finger protein 288"""	ZNF288		10965110, 11352661	Standard	XM_005247339		Approved	ODA-8S, DKFZp566F123, DPZF	uc003ebi.3	Q9HC78	OTTHUMG00000159366	ENST00000474710.1:c.320C>T	3.37:g.114070605G>A	ENSP00000419153:p.Thr107Met	False	False		Somatic	0				ZBTB20_ENST00000393785.2_Missense_Mutation_p.T34M|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T34M|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T34M|ZBTB20_ENST00000474710.1_Missense_Mutation_p.T107M	p.T34M	NM_001164343.1	NP_001157815.1	WXS	Illumina HiSeq	Phase_I	Q9HC78	ZBT20_HUMAN		LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)	11	922	-			107					Q63HP6|Q8N6R5|Q9Y410	Missense_Mutation	SNP	ENST00000474710.1	37	c.101C>T	CCDS54626.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286334	0.80803	.	.	ENSG00000181722	ENST00000462705;ENST00000393785;ENST00000481632;ENST00000471418;ENST00000474710;ENST00000357258;ENST00000464560;ENST00000470311	T;T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	5.98	5.98	0.97165	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.86527	0.5954	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.87050	0.2146	10	0.87932	D	0	.	20.4561	0.99145	0.0:0.0:1.0:0.0	.	107	Q9HC78	ZBT20_HUMAN	M	34;34;34;34;107;34;34;34	ENSP00000420324:T34M;ENSP00000377375:T34M;ENSP00000418092:T34M;ENSP00000419902:T34M;ENSP00000419153:T107M;ENSP00000349803:T34M;ENSP00000417307:T34M;ENSP00000420684:T34M	ENSP00000349803:T34M	T	-	2	0	ZBTB20	115553295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.843000	0.97960	0.650000	0.86243	ACG		0.602	ZBTB20-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354951.1	0	NM_015642		3:114070605
TFPT	29844	broad.mit.edu	37	19	54617951	54617951	+	Silent	SNP	A	A	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:54617951A>G	ENST00000391759.1	-	2	558	c.153T>C	c.(151-153)ggT>ggC	p.G51G	TFPT_ENST00000391758.1_Silent_p.G42G|PRPF31_ENST00000419967.1_5'Flank|PRPF31_ENST00000321030.4_5'Flank|TFPT_ENST00000391757.1_Silent_p.G51G	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	51					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					AGCCGCCCAGACCACCTGACA	0.637			T	TCF3	pre-B ALL																																	ENST00000391759.1		NA		Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		0				large_intestine(2)|lung(2)	4						c.(151-153)ggT>ggC		TCF3 (E2A) fusion partner (in childhood Leukemia)							115.0	125.0	122.0					19																	54617951		2203	4300	6503	SO:0001819	synonymous_variant	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54617951A>G	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.153T>C	19.37:g.54617951A>G		False	False		Somatic	0				TFPT_ENST00000391757.1_Silent_p.G51G|TFPT_ENST00000391758.1_Silent_p.G42G	p.G51G	NM_013342.3	NP_037474.1	WXS	Illumina HiSeq	Phase_I	P0C1Z6	TFPT_HUMAN			2	558	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		51						Silent	SNP	ENST00000391759.1	37	c.153T>C	CCDS12878.1																																																																																				0.637	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	0	NM_013342		19:54617951
ITGAD	3681	broad.mit.edu	37	16	31409124	31409124	+	Silent	SNP	C	C	T	rs12922480		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:31409124C>T	ENST00000389202.2	+	5	370	c.321C>T	c.(319-321)ggC>ggT	p.G107G		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	107					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGCCTGTGGCCCGACCCTGC	0.657																																						ENST00000389202.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(319-321)ggC>ggT		integrin, alpha D							30.0	29.0	30.0					16																	31409124		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31409124C>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.321C>T	16.37:g.31409124C>T		True	False		Somatic	0					p.G107G	NM_005353.2	NP_005344.2	WXS	Illumina HiSeq	Phase_I	Q13349	ITAD_HUMAN			5	370	+			107					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.321C>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671698	0.29693	.	.	ENSG00000156886	ENST00000316569	.	.	.	4.19	-0.494	0.12034	.	.	.	.	.	T	0.29914	0.0748	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09314	-1.0680	5	0.11182	T	0.66	.	2.1072	0.03694	0.1557:0.4917:0.153:0.1996	.	.	.	.	V	15	.	ENSP00000323325:A15V	A	+	2	0	ITGAD	31316625	0.950000	0.32346	0.969000	0.41365	0.636000	0.38137	-0.193000	0.09573	0.131000	0.18576	-0.136000	0.14681	GCC		0.657	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	0	NM_005353		16:31409124
MECOM	2122	broad.mit.edu	37	3	168818719	168818719	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:168818719T>C	ENST00000464456.1	-	10	3412	c.2212A>G	c.(2212-2214)Aac>Gac	p.N738D	MECOM_ENST00000472280.1_Missense_Mutation_p.N748D|MECOM_ENST00000460814.1_Missense_Mutation_p.N738D|MECOM_ENST00000392736.3_Missense_Mutation_p.N747D|MECOM_ENST00000494292.1_Missense_Mutation_p.N926D|MECOM_ENST00000468789.1_Missense_Mutation_p.N747D|MECOM_ENST00000433243.2_Missense_Mutation_p.N748D|MECOM_ENST00000264674.3_Missense_Mutation_p.N812D	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGTGTTAGGTTTGCAGACCTT	0.368																																						ENST00000464456.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2212-2214)Aac>Gac		MDS1 and EVI1 complex locus							83.0	82.0	83.0					3																	168818719		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168818719T>C	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2212A>G	3.37:g.168818719T>C	ENSP00000419770:p.Asn738Asp	True	False		Somatic	0				MECOM_ENST00000468789.1_Missense_Mutation_p.N747D|MECOM_ENST00000264674.3_Missense_Mutation_p.N812D|MECOM_ENST00000494292.1_Missense_Mutation_p.N926D|MECOM_ENST00000472280.1_Missense_Mutation_p.N748D|MECOM_ENST00000392736.3_Missense_Mutation_p.N747D|MECOM_ENST00000433243.2_Missense_Mutation_p.N748D|MECOM_ENST00000460814.1_Missense_Mutation_p.N738D	p.N738D	NM_001164000.1	NP_001157472.1	WXS	Illumina HiSeq	Phase_I	Q13465	MDS1_HUMAN			10	3412	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2212A>G	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	T	17.10	3.301710	0.60195	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.55	5.55	0.83447	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.15522	0.0374	N	0.16016	0.355	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.563;0.999;0.999;0.999	D;P;D;D;D	0.80764	0.993;0.502;0.994;0.988;0.981	T	0.14755	-1.0461	10	0.52906	T	0.07	-13.5136	15.7017	0.77547	0.0:0.0:0.0:1.0	.	935;739;926;812;747	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	D	812;747;738;748;926;747;738;748	ENSP00000264674:N812D;ENSP00000376493:N747D;ENSP00000419770:N738D;ENSP00000420048:N748D;ENSP00000417899:N926D;ENSP00000419995:N747D;ENSP00000420466:N738D;ENSP00000394302:N748D	ENSP00000264674:N812D	N	-	1	0	MECOM	170301413	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	8.040000	0.89188	2.096000	0.63516	0.528000	0.53228	AAC		0.368	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	0	NM_005241, NM_004991		3:168818719
SH3BP1	23616	broad.mit.edu	37	22	38041378	38041378	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr22:38041378C>A	ENST00000357436.4	+	10	1098	c.785C>A	c.(784-786)tCc>tAc	p.S262Y	SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000442465.2_Missense_Mutation_p.S262Y|SH3BP1_ENST00000599616.1_Missense_Mutation_p.S198Y|SH3BP1_ENST00000336738.5_Missense_Mutation_p.S262Y|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	262	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GCAGACCACTCCCCTTCGATG	0.652																																						ENST00000599616.1		NA																	0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(592-594)tCc>tAc		SH3-domain binding protein 1							95.0	88.0	90.0					22																	38041378		2203	4300	6503	SO:0001583	missense	23616				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	g.chr22:38041378C>A		CCDS13952.2	22q13.1	2011-07-04			ENSG00000100092	ENSG00000100092		"""Rho GTPase activating proteins"""	10824	protein-coding gene	gene with protein product						10591208, 12029088	Standard	NM_018957		Approved	ARHGAP43	uc003ati.3	Q9Y3L3	OTTHUMG00000030996	ENST00000357436.4:c.785C>A	22.37:g.38041378C>A	ENSP00000350018:p.Ser262Tyr	True	False		Somatic	0				Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000442465.2_Missense_Mutation_p.S262Y|SH3BP1_ENST00000495174.1_3'UTR|SH3BP1_ENST00000336738.5_Missense_Mutation_p.S262Y|SH3BP1_ENST00000357436.4_Missense_Mutation_p.S262Y	p.S198Y			WXS	Illumina HiSeq	Phase_I	Q9Y3L3	3BP1_HUMAN			8	593	+	Melanoma(58;0.0574)		262			BAR.		Q5R3N0|Q6IBZ2|Q6ZVL9|Q96HQ5|Q9NSQ9	Missense_Mutation	SNP	ENST00000357436.4	37	c.593C>A	CCDS13952.2	.	.	.	.	.	.	.	.	.	.	C	7.442	0.640985	0.14386	.	.	ENSG00000100092	ENST00000357436;ENST00000336738;ENST00000442465;ENST00000397014	T;T;T	0.18502	2.27;2.21;2.31	5.16	-0.934	0.10428	Rho GTPase-activating protein domain (1);BAR (1);	0.691929	0.13789	N	0.362651	T	0.08044	0.0201	N	0.22421	0.69	0.19300	N	0.999975	B;P;P;P;P	0.39964	0.164;0.553;0.697;0.553;0.553	B;B;B;B;B	0.35510	0.159;0.13;0.204;0.067;0.13	T	0.23511	-1.0186	10	0.72032	D	0.01	.	2.2795	0.04111	0.1207:0.4325:0.2355:0.2113	.	262;176;198;262;176	F5GZA8;E7EUD3;Q6ZT62;Q9Y3L3;Q6ZTJ5	.;.;.;3BP1_HUMAN;.	Y	262;262;262;176	ENSP00000350018:S262Y;ENSP00000337213:S262Y;ENSP00000395126:S262Y	ENSP00000337213:S262Y	S	+	2	0	SH3BP1	36371324	0.000000	0.05858	0.999000	0.59377	0.000000	0.00434	-0.425000	0.07017	0.269000	0.21961	-0.258000	0.10820	TCC		0.652	SH3BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075884.4	0	NM_018957		22:38041378
LPL	4023	broad.mit.edu	37	8	19811679	19811679	+	Missense_Mutation	SNP	G	G	A	rs372668179		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:19811679G>A	ENST00000311322.8	+	5	1060	c.590G>A	c.(589-591)cGt>cAt	p.R197H		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	197					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	GCCCCGAGTCGTCTTTCTCCT	0.458																																						ENST00000311322.8		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36	GRCh37	CM034045	LPL	M		c.(589-591)cGt>cAt		lipoprotein lipase	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	G	HIS/ARG	0,4406		0,0,2203	135.0	130.0	131.0		590	6.2	1.0	8		131	1,8599	1.2+/-3.3	0,1,4299	no	missense	LPL	NM_000237.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	197/476	19811679	1,13005	2203	4300	6503	SO:0001583	missense	4023				fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity	g.chr8:19811679G>A		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.590G>A	8.37:g.19811679G>A	ENSP00000309757:p.Arg197His	False	False		Somatic	0					p.R197H	NM_000237.2	NP_000228.1	WXS	Illumina HiSeq	Phase_I	P06858	LIPL_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	5	1060	+			197					B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	37	c.590G>A	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.778409	0.70107	0.0	1.16E-4	ENSG00000175445	ENST00000311322;ENST00000538071;ENST00000535763	D	0.93307	-3.2	6.17	6.17	0.99709	Lipase, N-terminal (1);	0.226102	0.47852	D	0.000212	D	0.96078	0.8722	M	0.76002	2.32	0.30091	N	0.808285	D	0.89917	1.0	D	0.76575	0.988	D	0.95786	0.8821	8	.	.	.	-23.5122	13.211	0.59825	0.0:0.0:0.8411:0.1589	.	197	P06858	LIPL_HUMAN	H	197;121;183	ENSP00000309757:R197H	.	R	+	2	0	LPL	19855959	0.996000	0.38824	0.997000	0.53966	0.428000	0.31595	3.031000	0.49728	2.941000	0.99782	0.655000	0.94253	CGT		0.458	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3	0			8:19811679
SLC27A1	376497	broad.mit.edu	37	19	17611112	17611112	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:17611112G>A	ENST00000252595.7	+	8	1329	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R411H|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R232H|SLC27A1_ENST00000598848.1_3'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	411	Sufficient for oligomerization. {ECO:0000250}.				adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTCAACAGCCGCATCCTGCCC	0.612																																						ENST00000252595.7		NA																	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(1231-1233)cGc>cAc		solute carrier family 27 (fatty acid transporter), member 1							56.0	54.0	55.0					19																	17611112		2203	4300	6503	SO:0001583	missense	376497				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding	g.chr19:17611112G>A	BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.1232G>A	19.37:g.17611112G>A	ENSP00000252595:p.Arg411His	False	False		Somatic	0				CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Missense_Mutation_p.R232H|SLC27A1_ENST00000442725.1_Missense_Mutation_p.R411H	p.R411H	NM_198580.1	NP_940982.1	WXS	Illumina HiSeq	Phase_I	Q6PCB7	S27A1_HUMAN			8	1329	+			411			Sufficient for oligomerization (By similarity).		A6NIH2|B7Z662	Missense_Mutation	SNP	ENST00000252595.7	37	c.1232G>A	CCDS32953.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.076236	0.55646	.	.	ENSG00000130304	ENST00000442725;ENST00000252595	T;T	0.49432	0.78;0.78	4.55	2.24	0.28232	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	M	0.84511	2.7	0.58432	D	0.999997	B;P	0.38455	0.211;0.632	B;B	0.37989	0.117;0.262	T	0.34625	-0.9821	10	0.15952	T	0.53	-4.3707	6.518	0.22258	0.1:0.0:0.7209:0.179	.	232;411	B7Z662;Q6PCB7	.;S27A1_HUMAN	H	411	ENSP00000413424:R411H;ENSP00000252595:R411H	ENSP00000252595:R411H	R	+	2	0	SLC27A1	17472112	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.243000	0.78219	0.898000	0.36418	0.555000	0.69702	CGC		0.612	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464145.1	0	NM_198580		19:17611112
CCDC88C	440193	broad.mit.edu	37	14	91791261	91791261	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:91791261C>T	ENST00000389857.6	-	12	1290	c.1204G>A	c.(1204-1206)Gac>Aac	p.D402N		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	402					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTATCTGTGTCCCGGTCCTGG	0.542																																						ENST00000389857.6		NA																	0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(1204-1206)Gac>Aac		coiled-coil domain containing 88C							97.0	102.0	100.0					14																	91791261		2021	4187	6208	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91791261C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1204G>A	14.37:g.91791261C>T	ENSP00000374507:p.Asp402Asn	True	False		Somatic	0					p.D402N	NM_001080414.3	NP_001073883.2	WXS	Illumina HiSeq	Phase_I	Q9P219	DAPLE_HUMAN			12	1290	-		all_cancers(154;0.0468)	402					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.1204G>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022353	0.93462	.	.	ENSG00000015133	ENST00000389857	T	0.57436	0.4	5.76	5.76	0.90799	.	0.000000	0.51477	U	0.000096	T	0.74756	0.3758	M	0.85041	2.73	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.78209	-0.2293	10	0.72032	D	0.01	-45.0551	14.7623	0.69614	0.1445:0.8555:0.0:0.0	.	402	Q9P219	DAPLE_HUMAN	N	402	ENSP00000374507:D402N	ENSP00000374507:D402N	D	-	1	0	CCDC88C	90861014	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.568000	0.67385	2.728000	0.93425	0.555000	0.69702	GAC		0.542	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	0	XM_029353		14:91791261
AHNAK2	113146	broad.mit.edu	37	14	105412407	105412407	+	Silent	SNP	C	C	A	rs374653111	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:105412407C>A	ENST00000333244.5	-	7	9500	c.9381G>T	c.(9379-9381)ggG>ggT	p.G3127G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3127						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.G3127G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGACAGGTCCCCCTCCAGCC	0.622													.|||	3	0.000599042	0.0008	0.0	5008	,	,		18147	0.001		0.0	False		,,,				2504	0.001					ENST00000333244.5		NA																	1	Substitution - coding silent(1)	p.G3127G(1)	ovary(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(9379-9381)ggG>ggT		AHNAK nucleoprotein 2		A		0,3924		0,0,1962	152.0	129.0	136.0		9381	-6.6	0.0	14		136	2,8232		0,2,4115	no	coding-synonymous	AHNAK2	NM_138420.2		0,2,6077	AA,AC,CC		0.0243,0.0,0.0165		3127/5796	105412407	2,12156	1962	4117	6079	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105412407C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9381G>T	14.37:g.105412407C>A		True	False		Somatic	0				AHNAK2_ENST00000557457.1_Intron	p.G3127G	NM_138420.2	NP_612429.2	WXS	Illumina HiSeq	Phase_I	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9500	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3127					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9381G>T	CCDS45177.1																																																																																				0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	0	NM_138420		14:105412407
ARAP3	64411	broad.mit.edu	37	5	141053229	141053229	+	Missense_Mutation	SNP	G	G	A	rs149350776	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:141053229G>A	ENST00000239440.4	-	5	910	c.845C>T	c.(844-846)aCg>aTg	p.T282M	ARAP3_ENST00000513878.1_5'Flank|ARAP3_ENST00000508305.1_Missense_Mutation_p.T204M	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	282					cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GCGGTCTGCCGTGAAGGAGAA	0.607													G|||	4	0.000798722	0.0015	0.0014	5008	,	,		15589	0.0		0.001	False		,,,				2504	0.0					ENST00000239440.4		NA																	0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(844-846)aCg>aTg		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3		G	MET/THR	4,4402	8.1+/-20.4	0,4,2199	156.0	156.0	156.0		845	2.8	0.9	5	dbSNP_134	156	0,8600		0,0,4300	yes	missense	ARAP3	NM_022481.5	81	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	282/1545	141053229	4,13002	2203	4300	6503	SO:0001583	missense	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141053229G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.845C>T	5.37:g.141053229G>A	ENSP00000239440:p.Thr282Met	False	False		Somatic	0				ARAP3_ENST00000508305.1_Missense_Mutation_p.T204M	p.T282M	NM_022481.5	NP_071926.4	WXS	Illumina HiSeq	Phase_I	Q8WWN8	ARAP3_HUMAN			5	910	-			282					B4DIT1|D3DQE3	Missense_Mutation	SNP	ENST00000239440.4	37	c.845C>T	CCDS4266.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	13.85	2.359944	0.41801	9.08E-4	0.0	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448	T;T;T	0.18338	2.49;3.19;2.22	4.87	2.79	0.32731	.	0.832410	0.10688	N	0.645579	T	0.09423	0.0232	L	0.29908	0.895	0.80722	D	1	P;B	0.42584	0.784;0.154	B;B	0.33454	0.164;0.015	T	0.23154	-1.0196	10	0.32370	T	0.25	.	4.4043	0.11402	0.4754:0.0:0.5246:0.0	.	204;282	G5E9Y3;Q8WWN8	.;ARAP3_HUMAN	M	201;204;282;282	ENSP00000421826:T204M;ENSP00000239440:T282M;ENSP00000421148:T282M	ENSP00000239440:T282M	T	-	2	0	ARAP3	141033413	0.991000	0.36638	0.904000	0.35570	0.039000	0.13416	2.662000	0.46766	1.040000	0.40099	0.557000	0.71058	ACG		0.607	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	0	NM_022481		5:141053229
SMAD4	4089	broad.mit.edu	37	18	48591901	48591901	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr18:48591901A>G	ENST00000342988.3	+	9	1602	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	SMAD4_ENST00000398417.2_Missense_Mutation_p.D355G|SMAD4_ENST00000588745.1_Missense_Mutation_p.D259G	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	355	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGATACGTGGACCCTTCTGGA	0.428																																						ENST00000342988.3		NA																	41	Whole gene deletion(36)|Substitution - Missense(3)|Unknown(2)	p.0?(36)|p.?(2)|p.D355G(2)|p.D355A(1)	pancreas(27)|large_intestine(5)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1063-1065)gAc>gGc		SMAD family member 4							216.0	180.0	192.0					18																	48591901		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591901A>G	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1064A>G	18.37:g.48591901A>G	ENSP00000341551:p.Asp355Gly	True	False		Somatic	0				SMAD4_ENST00000398417.2_Missense_Mutation_p.D355G|SMAD4_ENST00000588745.1_Missense_Mutation_p.D259G	p.D355G	NM_005359.5	NP_005350.1	WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1602	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	355			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1064A>G	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	29.6	5.016245	0.93404	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98060	-4.69;-4.69	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.98845	0.9610	M	0.88570	2.965	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99777	1.1026	10	0.87932	D	0	.	15.2431	0.73485	1.0:0.0:0.0:0.0	.	355	Q13485	SMAD4_HUMAN	G	355	ENSP00000341551:D355G;ENSP00000381452:D355G	ENSP00000341551:D355G	D	+	2	0	SMAD4	46845899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.159000	0.94728	2.237000	0.73441	0.460000	0.39030	GAC		0.428	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48591901
CADM1	23705	broad.mit.edu	37	11	115109255	115109255	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr11:115109255G>A	ENST00000452722.3	-	3	409	c.389C>T	c.(388-390)cCc>cTc	p.P130L	CADM1_ENST00000536727.1_Missense_Mutation_p.P130L|CADM1_ENST00000542447.2_Missense_Mutation_p.P130L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000537058.1_Missense_Mutation_p.P130L|CADM1_ENST00000331581.6_Missense_Mutation_p.P130L	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TTCCTGTGGGGGATCGGTATA	0.448																																						ENST00000542447.2		NA																	0				cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(388-390)cCc>cTc		cell adhesion molecule 1							145.0	141.0	143.0					11																	115109255		2201	4296	6497	SO:0001583	missense	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115109255G>A	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.389C>T	11.37:g.115109255G>A	ENSP00000395359:p.Pro130Leu	True	False		Somatic	0				CADM1_ENST00000331581.6_Missense_Mutation_p.P130L|CADM1_ENST00000537058.1_Missense_Mutation_p.P130L|CADM1_ENST00000536727.1_Missense_Mutation_p.P130L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_Missense_Mutation_p.P130L	p.P130L	NM_001098517.1	NP_001091987.1	WXS	Illumina HiSeq	Phase_I	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	3	517	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	130			Ig-like V-type.			Missense_Mutation	SNP	ENST00000452722.3	37	c.389C>T	CCDS8373.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.8|25.8	4.670276|4.670276	0.88348|0.88348	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000545094|ENST00000543249	D;D;D;D;D;D|D	0.83506|0.83419	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73|-1.72	5.38|5.38	5.38|5.38	0.77491|0.77491	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.87497|0.87497	0.6192|0.6192	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998;1.0|.	D;D;D;D;D|.	0.97110|.	0.999;0.999;1.0;0.992;0.999|.	D|D	0.85876|0.85876	0.1419|0.1419	10|8	0.66056|0.41790	D|T	0.02|0.15	.|.	19.3366|19.3366	0.94322|0.94322	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	130;130;131;130;130|.	Q9BY67-2;F5H0J4;A4FVB5;Q9BY67;A0A4Z1|.	.;.;.;CADM1_HUMAN;.|.	L|S	130;130;130;130;89;130;97|114	ENSP00000439176:P130L;ENSP00000395359:P130L;ENSP00000439817:P130L;ENSP00000440322:P130L;ENSP00000329797:P130L;ENSP00000439696:P97L|ENSP00000442227:P114S	ENSP00000329797:P130L|ENSP00000442227:P114S	P|P	-|-	2|1	0|0	CADM1|CADM1	114614465|114614465	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	9.222000|9.222000	0.95196|0.95196	2.799000|2.799000	0.96334|0.96334	0.650000|0.650000	0.86243|0.86243	CCC|CCC		0.448	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	0	NM_014333		11:115109255
TFPI2	7980	broad.mit.edu	37	7	93518519	93518519	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:93518519G>A	ENST00000222543.5	-	3	600	c.288C>T	c.(286-288)tgC>tgT	p.C96C	TFPI2_ENST00000545378.1_Intron|AC002076.10_ENST00000435257.1_RNA|GNGT1_ENST00000455502.1_Intron	NM_001271003.1|NM_001271004.1|NM_006528.3	NP_001257932.1|NP_001257933.1|NP_006519.1	P48307	TFPI2_HUMAN	tissue factor pathway inhibitor 2	96	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				blood coagulation (GO:0007596)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTTGCAGCCGGCAAACTTTGG	0.398																																						ENST00000222543.5		NA																	0				endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(286-288)tgC>tgT		tissue factor pathway inhibitor 2							58.0	69.0	66.0					7																	93518519		2202	4299	6501	SO:0001819	synonymous_variant	7980				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	g.chr7:93518519G>A	L27624	CCDS5632.1	7q	2008-07-18			ENSG00000105825	ENSG00000105825			11761	protein-coding gene	gene with protein product		600033				7896752, 8945635	Standard	NM_006528		Approved	PP5, TFPI-2, REF1	uc003umy.2	P48307	OTTHUMG00000022963	ENST00000222543.5:c.288C>T	7.37:g.93518519G>A		False	False		Somatic	0				GNGT1_ENST00000455502.1_Intron|TFPI2_ENST00000545378.1_Intron	p.C96C	NM_006528.3	NP_006519.1	WXS	Illumina HiSeq	Phase_I	P48307	TFPI2_HUMAN	STAD - Stomach adenocarcinoma(171;0.000967)		3	600	-	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		96			BPTI/Kunitz inhibitor 2.		Q66ME8|Q8NAK6|Q9UC86	Silent	SNP	ENST00000222543.5	37	c.288C>T	CCDS5632.1																																																																																				0.398	TFPI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254720.2	0	NM_006528		7:93518519
NEURL2	140825	broad.mit.edu	37	20	44517457	44517457	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr20:44517457C>T	ENST00000372518.4	-	2	1093	c.798G>A	c.(796-798)cgG>cgA	p.R266R	CTSA_ENST00000372459.2_5'Flank|CTSA_ENST00000372484.3_5'Flank|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000191018.5_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	266	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAATGGCCAGCCGGTGCACCA	0.552																																						ENST00000372518.4		NA																	0				large_intestine(1)|lung(2)	3						c.(796-798)cgG>cgA		neuralized E3 ubiquitin protein ligase 2							96.0	81.0	86.0					20																	44517457		2203	4300	6503	SO:0001819	synonymous_variant	140825				intracellular signal transduction			g.chr20:44517457C>T	AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.798G>A	20.37:g.44517457C>T		False	False		Somatic	0					p.R266R	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	WXS	Illumina HiSeq	Phase_I	Q9BR09	NEUL2_HUMAN			2	1093	-		Myeloproliferative disorder(115;0.0122)	266			SOCS box.		Q3KR34	Silent	SNP	ENST00000372518.4	37	c.798G>A	CCDS13384.1																																																																																				0.552	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079539.2	0			20:44517457
SPTA1	6708	broad.mit.edu	37	1	158592861	158592861	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:158592861G>A	ENST00000368147.4	-	43	6212	c.6032C>T	c.(6031-6033)gCc>gTc	p.A2011V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2011					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.A2011V(6)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCAGAGCGGCATAACGCTC	0.483																																						ENST00000368148.3		NA																	6	Substitution - Missense(6)	p.A2011V(6)	lung(4)|urinary_tract(1)|prostate(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6031-6033)gCc>gTc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							267.0	267.0	267.0					1																	158592861		1943	4143	6086	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592861G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6032C>T	1.37:g.158592861G>A	ENSP00000357129:p.Ala2011Val	False	False		Somatic	0				SPTA1_ENST00000368147.3_Missense_Mutation_p.A2008V|SPTA1_ENST00000461624.1_5'UTR	p.A2011V	NM_003126.2	NP_003117.2	WXS	Illumina HiSeq	Phase_I	P02549	SPTA1_HUMAN			43	6212	-	all_hematologic(112;0.0378)		2011					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6032C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.476	1.096957	0.20552	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51325	0.71;0.71	4.78	0.669	0.17918	.	.	.	.	.	T	0.22859	0.0552	M	0.68952	2.095	0.30521	N	0.768424	B	0.23990	0.095	B	0.29267	0.1	T	0.14531	-1.0469	9	0.33940	T	0.23	.	5.4632	0.16627	0.1562:0.0:0.5633:0.2805	.	2011	P02549	SPTA1_HUMAN	V	2011;2008	ENSP00000357130:A2011V;ENSP00000357129:A2008V	ENSP00000357129:A2008V	A	-	2	0	SPTA1	156859485	1.000000	0.71417	0.002000	0.10522	0.000000	0.00434	4.149000	0.58091	-0.029000	0.13827	-0.140000	0.14226	GCC		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	0	NM_003126		1:158592861
PSME4	23198	broad.mit.edu	37	2	54176304	54176304	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:54176304G>A	ENST00000404125.1	-	2	414	c.359C>T	c.(358-360)gCc>gTc	p.A120V	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CAAAAGGCGGGCAAATCCCTG	0.358																																						ENST00000404125.1		NA																	0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(358-360)gCc>gTc		proteasome (prosome, macropain) activator subunit 4							103.0	102.0	102.0					2																	54176304		2203	4300	6503	SO:0001583	missense	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54176304G>A	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.359C>T	2.37:g.54176304G>A	ENSP00000384211:p.Ala120Val	True	False		Somatic	0				PSME4_ENST00000421748.2_Intron	p.A120V	NM_014614.2	NP_055429.2	WXS	Illumina HiSeq	Phase_I	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	414	-			120					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	c.359C>T	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	G	29.2	4.984407	0.93044	.	.	ENSG00000068878	ENST00000404125	T	0.06768	3.26	5.06	5.06	0.68205	.	0.170005	0.51477	D	0.000094	T	0.15392	0.0371	M	0.83223	2.63	0.80722	D	1	P	0.42078	0.77	B	0.37550	0.253	T	0.14117	-1.0484	10	0.23891	T	0.37	.	18.799	0.92008	0.0:0.0:1.0:0.0	.	120	Q14997	PSME4_HUMAN	V	120	ENSP00000384211:A120V	ENSP00000374643:A120V	A	-	2	0	PSME4	54029808	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.882000	0.87258	2.494000	0.84150	0.655000	0.94253	GCC		0.358	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	0	XM_040158		2:54176304
NSD1	64324	broad.mit.edu	37	5	176687011	176687011	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:176687011G>A	ENST00000439151.2	+	14	5033	c.4988G>A	c.(4987-4989)cGc>cAc	p.R1663H	NSD1_ENST00000354179.4_Missense_Mutation_p.R1394H|NSD1_ENST00000361032.4_Missense_Mutation_p.R1560H|NSD1_ENST00000347982.4_Missense_Mutation_p.R1394H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1663					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CGCTGTGTCCGCTGTCCTGTG	0.418			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2		NA		Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(4987-4989)cGc>cAc		nuclear receptor binding SET domain protein 1							132.0	122.0	125.0					5																	176687011		2203	4300	6503	SO:0001583	missense	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176687011G>A	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.4988G>A	5.37:g.176687011G>A	ENSP00000395929:p.Arg1663His	False	False	HNSCC(47;0.14)	Somatic	0				NSD1_ENST00000361032.4_Missense_Mutation_p.R1560H|NSD1_ENST00000354179.4_Missense_Mutation_p.R1394H|NSD1_ENST00000347982.4_Missense_Mutation_p.R1394H	p.R1663H	NM_022455.4	NP_071900.2	WXS	Illumina HiSeq	Phase_I	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	14	5033	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	1663					Q96PD8|Q96RN7	Missense_Mutation	SNP	ENST00000439151.2	37	c.4988G>A	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	35	5.530693	0.96446	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	5.68	5.68	0.88126	Zinc finger, PHD-type (1);	0.000000	0.64402	D	0.000002	D	0.98065	0.9362	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.98376	1.0556	10	0.72032	D	0.01	.	20.14	0.98056	0.0:0.0:1.0:0.0	.	1394;1560;1663	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	H	1394;1663;1394;1560	ENSP00000346111:R1394H;ENSP00000395929:R1663H;ENSP00000343209:R1394H;ENSP00000354310:R1560H	ENSP00000343209:R1394H	R	+	2	0	NSD1	176619617	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.837000	0.97791	0.591000	0.81541	CGC		0.418	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	0	NM_172349		5:176687011
WRN	7486	broad.mit.edu	37	8	31004955	31004955	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:31004955G>A	ENST00000298139.5	+	30	3784	c.3535G>A	c.(3535-3537)Gca>Aca	p.A1179T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1179	HRDC. {ECO:0000255|PROSITE- ProRule:PRU00328}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGCTATTCTGGCAACAAACAA	0.338			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5		NA	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(3535-3537)Gca>Aca	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							97.0	98.0	98.0					8																	31004955		2203	4300	6503	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:31004955G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3535G>A	8.37:g.31004955G>A	ENSP00000298139:p.Ala1179Thr	False	False		Somatic	0					p.A1179T	NM_000553.4	NP_000544.2	WXS	Illumina HiSeq	Phase_I	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	30	3784	+		Breast(100;0.195)	1179			HRDC.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.3535G>A	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767242	0.90020	.	.	ENSG00000165392	ENST00000298139	T	0.51574	0.7	4.97	4.97	0.65823	HRDC-like (1);Helicase/RNase D C-terminal, HRDC domain (3);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	M	0.77820	2.39	0.50039	D	0.999849	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.74697	-0.3578	10	0.66056	D	0.02	-18.4415	18.1847	0.89789	0.0:0.0:1.0:0.0	.	589;1179	Q59F09;Q14191	.;WRN_HUMAN	T	1179	ENSP00000298139:A1179T	ENSP00000298139:A1179T	A	+	1	0	WRN	31124497	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.519000	0.81809	2.459000	0.83118	0.655000	0.94253	GCA		0.338	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1	0			8:31004955
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
BPTF	2186	broad.mit.edu	37	17	65882284	65882284	+	Silent	SNP	T	T	C			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:65882284T>C	ENST00000321892.4	+	6	2155	c.2094T>C	c.(2092-2094)gcT>gcC	p.A698A	BPTF_ENST00000335221.5_Silent_p.A698A|BPTF_ENST00000306378.6_Intron|BPTF_ENST00000424123.3_Silent_p.A559A			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	698	Interaction with KEAP1.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACACTAGTGCTACCACTACCT	0.383																																						ENST00000321892.4		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2092-2094)gcT>gcC		bromodomain PHD finger transcription factor							126.0	122.0	123.0					17																	65882284		2203	4300	6503	SO:0001819	synonymous_variant	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65882284T>C	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2094T>C	17.37:g.65882284T>C		False	False		Somatic	0				BPTF_ENST00000335221.5_Silent_p.A698A|BPTF_ENST00000424123.3_Silent_p.A559A|BPTF_ENST00000306378.6_Intron	p.A698A			WXS	Illumina HiSeq	Phase_I	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	2155	+	all_cancers(12;6e-11)		698			Interaction with KEAP1.		Q6NX67|Q7Z7D6|Q9UIG2	Silent	SNP	ENST00000321892.4	37	c.2094T>C																																																																																					0.383	BPTF-201	KNOWN	basic	protein_coding	protein_coding		0	NM_182641, NM_004459		17:65882284
MGA	23269	broad.mit.edu	37	15	42041764	42041764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:42041764G>T	ENST00000570161.1	+	16	5959	c.5959G>T	c.(5959-5961)Gag>Tag	p.E1987*	MGA_ENST00000219905.7_Nonsense_Mutation_p.E1987*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E1948*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AATAAAAAGAGAGCAAGAAAC	0.428																																						ENST00000219905.7		NA																	0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(5959-5961)Gag>Tag		MGA, MAX dimerization protein							60.0	59.0	60.0					15																	42041764		1849	4092	5941	SO:0001587	stop_gained	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041764G>T	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.5959G>T	15.37:g.42041764G>T	ENSP00000457035:p.Glu1987*	True	False		Somatic	0				MGA_ENST00000566586.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E1778*|MGA_ENST00000570161.1_Nonsense_Mutation_p.E1987*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E1948*	p.E1987*	NM_001164273.1	NP_001157745.1	WXS	Illumina HiSeq	Phase_I	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6140	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	1948					Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	ENST00000570161.1	37	c.5959G>T	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011840	0.75046	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	4.89	2.96	0.34315	.	0.000000	0.45126	D	0.000382	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	5.9914	0.19465	0.1012:0.1952:0.7036:0.0	.	.	.	.	X	1987;1948;1778	.	ENSP00000219905:E1987X	E	+	1	0	MGA	39829056	1.000000	0.71417	0.994000	0.49952	0.636000	0.38137	2.731000	0.47343	1.383000	0.46405	0.563000	0.77884	GAG		0.428	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	0	NM_001164273.1		15:42041764
CCDC47	57003	broad.mit.edu	37	17	61833870	61833870	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:61833870G>A	ENST00000225726.5	-	7	1178	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W	CCDC47_ENST00000582252.1_Missense_Mutation_p.R266W|CCDC47_ENST00000403162.3_Missense_Mutation_p.R266W	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	266					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						AAGGCTTTCCGTGTGCCAACA	0.378																																						ENST00000225726.5		NA																	0				endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(796-798)Cgg>Tgg		coiled-coil domain containing 47							122.0	107.0	112.0					17																	61833870		2203	4300	6503	SO:0001583	missense	57003					integral to membrane	protein binding	g.chr17:61833870G>A	AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.796C>T	17.37:g.61833870G>A	ENSP00000225726:p.Arg266Trp	False	False		Somatic	0				CCDC47_ENST00000582252.1_Missense_Mutation_p.R266W|CCDC47_ENST00000403162.3_Missense_Mutation_p.R266W	p.R266W	NM_020198.2	NP_064583.2	WXS	Illumina HiSeq	Phase_I	Q96A33	CCD47_HUMAN			7	1178	-			266					B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	ENST00000225726.5	37	c.796C>T	CCDS11643.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054915	0.36277	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.77	5.77	0.91146	.	0.052964	0.64402	D	0.000001	T	0.69396	0.3106	L	0.52573	1.65	0.58432	D	0.999997	D;D	0.76494	0.998;0.999	P;D	0.66084	0.859;0.941	T	0.71087	-0.4694	9	0.87932	D	0	-10.161	14.4629	0.67465	0.0:0.0:0.8437:0.1562	.	266;266	Q96A33-2;Q96A33	.;CCD47_HUMAN	W	266	.	ENSP00000225726:R266W	R	-	1	2	CCDC47	59187602	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.753000	0.55180	2.730000	0.93505	0.655000	0.94253	CGG		0.378	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444016.2	0	NM_020198		17:61833870
ADAMTSL3	57188	broad.mit.edu	37	15	84651305	84651305	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:84651305C>T	ENST00000286744.5	+	21	3149	c.2925C>T	c.(2923-2925)ccC>ccT	p.P975P	ADAMTSL3_ENST00000567476.1_Silent_p.P975P	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	975	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TTGCTGCCCCCGACATCGGCG	0.567																																						ENST00000286744.5		NA																	0				NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130						c.(2923-2925)ccC>ccT		ADAMTS-like 3							80.0	81.0	80.0					15																	84651305		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651305C>T	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2925C>T	15.37:g.84651305C>T		True	False		Somatic	0				ADAMTSL3_ENST00000567476.1_Silent_p.P975P	p.P975P	NM_207517.2	NP_997400.2	WXS	Illumina HiSeq	Phase_I	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3149	+			975			Ig-like C2-type 1.		A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.2925C>T	CCDS10326.1																																																																																				0.567	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	0	NM_207517		15:84651305
MCOLN1	57192	broad.mit.edu	37	19	7591452	7591452	+	Missense_Mutation	SNP	G	G	A	rs371444491		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:7591452G>A	ENST00000264079.6	+	3	490	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	122					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular iron ion homeostasis (GO:0006879)|ion transmembrane transport (GO:0034220)|release of sequestered calcium ion into cytosol (GO:0051209)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cation channel activity (GO:0005261)|NAADP-sensitive calcium-release channel activity (GO:0072345)	p.R122L(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCTACACGCGGGAGCAGCTG	0.652																																						ENST00000264079.6		NA																	1	Substitution - Missense(1)	p.R122L(1)	lung(1)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(364-366)cGg>cAg		mucolipin 1		G	GLN/ARG	0,4406		0,0,2203	124.0	104.0	111.0		365	-4.2	0.6	19		111	1,8599	1.2+/-3.3	0,1,4299	no	missense	MCOLN1	NM_020533.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	122/581	7591452	1,13005	2203	4300	6503	SO:0001583	missense	57192				calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity	g.chr19:7591452G>A	AF249319	CCDS12180.1	19p13.2	2011-12-16				ENSG00000090674		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13356	protein-coding gene	gene with protein product		605248				16382100	Standard	NM_020533		Approved	TRPML1, ML4, MLIV, MST080, MSTP080, TRPM-L1	uc002mgo.3	Q9GZU1		ENST00000264079.6:c.365G>A	19.37:g.7591452G>A	ENSP00000264079:p.Arg122Gln	True	False		Somatic	0					p.R122Q	NM_020533.2	NP_065394.1	WXS	Illumina HiSeq	Phase_I	Q9GZU1	MCLN1_HUMAN			3	490	+			122					D6W647|Q7Z4F7|Q9H292|Q9H4B3|Q9H4B5	Missense_Mutation	SNP	ENST00000264079.6	37	c.365G>A	CCDS12180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.949|6.949	0.544986|0.544986	0.13312|0.13312	0.0|0.0	1.16E-4|1.16E-4	ENSG00000090674|ENSG00000090674	ENST00000394321|ENST00000264079	.|T	.|0.44083	.|0.93	5.48|5.48	-4.19|-4.19	0.03835|0.03835	.|.	.|0.427403	.|0.27636	.|N	.|0.018482	T|T	0.08268|0.08268	0.0206|0.0206	N|N	0.00275|0.00275	-1.725|-1.725	0.24373|0.24373	N|N	0.994821|0.994821	B|B	0.15473|0.02656	0.013|0.0	B|B	0.09377|0.04013	0.004|0.001	T|T	0.42548|0.42548	-0.9445|-0.9445	8|10	0.87932|0.07325	D|T	0|0.83	.|.	11.4747|11.4747	0.50291|0.50291	0.7257:0.0:0.2743:0.0|0.7257:0.0:0.2743:0.0	.|.	9|122	Q9GZU1-2|Q9GZU1	.|MCLN1_HUMAN	R|Q	9|122	.|ENSP00000264079:R122Q	ENSP00000377856:G9R|ENSP00000264079:R122Q	G|R	+|+	1|2	0|0	MCOLN1|MCOLN1	7497452|7497452	1.000000|1.000000	0.71417|0.71417	0.649000|0.649000	0.29536|0.29536	0.893000|0.893000	0.52053|0.52053	3.092000|3.092000	0.50207|0.50207	-0.447000|-0.447000	0.07138|0.07138	-1.631000|-1.631000	0.00782|0.00782	GGG|CGG		0.652	MCOLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458974.2	0	NM_020533		19:7591452
PRSS16	10279	broad.mit.edu	37	6	27220639	27220639	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:27220639C>A	ENST00000230582.3	+	9	1076	c.1061C>A	c.(1060-1062)aCa>aAa	p.T354K	PRSS16_ENST00000377456.2_Intron|PRSS16_ENST00000421826.2_Missense_Mutation_p.T97K	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	354					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CGAGCAGAGACAGTGGCACAG	0.498																																					NSCLC(178;1118 2105 17078 23587 44429)	ENST00000230582.3		NA																	0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(1060-1062)aCa>aAa		protease, serine, 16 (thymus)							201.0	160.0	174.0					6																	27220639		2203	4300	6503	SO:0001583	missense	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27220639C>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1061C>A	6.37:g.27220639C>A	ENSP00000230582:p.Thr354Lys	False	False		Somatic	0				PRSS16_ENST00000421826.2_Missense_Mutation_p.T97K|PRSS16_ENST00000377456.2_Intron	p.T354K	NM_005865.3	NP_005856.1	WXS	Illumina HiSeq	Phase_I	Q9NQE7	TSSP_HUMAN			9	1076	+			354					O75416	Missense_Mutation	SNP	ENST00000230582.3	37	c.1061C>A	CCDS4623.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.0|21.0	4.081016|4.081016	0.76528|0.76528	.|.	.|.	ENSG00000112812|ENSG00000112812	ENST00000485993;ENST00000475106|ENST00000421826;ENST00000230582;ENST00000343467	.|T;T	.|0.14391	.|2.51;2.51	4.41|4.41	4.41|4.41	0.53225|0.53225	.|.	.|0.320491	.|0.32624	.|N	.|0.005844	T|T	0.23926|0.23926	0.0579|0.0579	M|M	0.68952|0.68952	2.095|2.095	0.39874|0.39874	D|D	0.973543|0.973543	.|P;D;D;D	.|0.65815	.|0.77;0.991;0.995;0.991	.|P;D;D;P	.|0.78314	.|0.481;0.991;0.91;0.812	T|T	0.01042|0.01042	-1.1471|-1.1471	6|10	0.56958|0.29301	D|T	0.05|0.29	-1.3456|-1.3456	14.8717|14.8717	0.70462|0.70462	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|106;241;97;354	.|Q7Z5N6;C9JI59;F2Z2N5;Q9NQE7	.|.;.;.;TSSP_HUMAN	E|K	106;132|97;354;241	.|ENSP00000404349:T97K;ENSP00000230582:T354K	ENSP00000396589:D130E|ENSP00000230582:T354K	D|T	+|+	3|2	2|0	PRSS16|PRSS16	27328618|27328618	0.898000|0.898000	0.30612|0.30612	1.000000|1.000000	0.80357|0.80357	0.965000|0.965000	0.64279|0.64279	1.181000|1.181000	0.32017|0.32017	2.451000|2.451000	0.82905|0.82905	0.563000|0.563000	0.77884|0.77884	GAC|ACA		0.498	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2	0			6:27220639
ZNF391	346157	broad.mit.edu	37	6	27369145	27369145	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:27369145G>A	ENST00000244576.4	+	3	1541	c.996G>A	c.(994-996)ccG>ccA	p.P332P	RP1-153G14.4_ENST00000607727.1_lincRNA	NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	332					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)			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GGGAGAAGCCGTACAAATGTA	0.423																																						ENST00000244576.4		NA																	0				endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(994-996)ccG>ccA		zinc finger protein 391							57.0	60.0	59.0					6																	27369145		2024	4227	6251	SO:0001819	synonymous_variant	346157				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27369145G>A	BC132797	CCDS43429.1	6p21	2013-01-08			ENSG00000124613	ENSG00000124613		"""Zinc fingers, C2H2-type"""	18779	protein-coding gene	gene with protein product							Standard	NM_001076781		Approved	dJ153G14.3	uc003njf.1	Q9UJN7	OTTHUMG00000014477	ENST00000244576.4:c.996G>A	6.37:g.27369145G>A		False	False		Somatic	0					p.P332P	NM_001076781.1	NP_001070249.1	WXS	Illumina HiSeq	Phase_I	Q9UJN7	ZN391_HUMAN			3	1541	+			332					B4DH77	Silent	SNP	ENST00000244576.4	37	c.996G>A	CCDS43429.1																																																																																				0.423	ZNF391-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040145.2	0	NM_001076781		6:27369145
DRP2	1821	broad.mit.edu	37	X	100492764	100492764	+	Splice_Site	SNP	G	G	A	rs372809310		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chrX:100492764G>A	ENST00000395209.3	+	5	965	c.438G>A	c.(436-438)gcG>gcA	p.A146A	DRP2_ENST00000538510.1_Splice_Site_p.A146A|DRP2_ENST00000402866.1_Splice_Site_p.A146A|DRP2_ENST00000541709.1_Splice_Site_p.A68A	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	146					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						AGACACATGCGGTAGGTTAGA	0.547																																						ENST00000395209.3		NA																	0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.e5+1		dystrophin related protein 2		G	,	0,3835		0,0,1632,571	74.0	72.0	73.0		204,438	3.2	1.0	X		73	1,6727		0,1,2427,1872	no	coding-synonymous-near-splice,coding-synonymous-near-splice	DRP2	NM_001171184.1,NM_001939.2	,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,	68/880,146/958	100492764	1,10562	2203	4300	6503	SO:0001630	splice_region_variant	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100492764G>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.438+1G>A	X.37:g.100492764G>A		False	False		Somatic	0				DRP2_ENST00000538510.1_Splice_Site_p.A146_splice|DRP2_ENST00000541709.1_Splice_Site_p.A68_splice|DRP2_ENST00000402866.1_Splice_Site_p.A146_splice	p.A146_splice	NM_001939.2	NP_001930.2	WXS	Illumina HiSeq	Phase_I	Q13474	DRP2_HUMAN			5	965	+			146					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Splice_Site	SNP	ENST00000395209.3	37	c.438_splice	CCDS14480.2																																																																																				0.547	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	0	NM_001939	Silent	X:100492764
NCAPG	64151	broad.mit.edu	37	4	17844989	17844989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:17844989G>A	ENST00000251496.2	+	21	3165	c.2989G>A	c.(2989-2991)Gca>Aca	p.A997T	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	997					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AGCCAAAACCGCAGCACTAGA	0.368																																						ENST00000251496.2		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(2989-2991)Gca>Aca		non-SMC condensin I complex, subunit G							101.0	109.0	106.0					4																	17844989		2203	4299	6502	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17844989G>A	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2989G>A	4.37:g.17844989G>A	ENSP00000251496:p.Ala997Thr	False	False		Somatic	0				LCORL_ENST00000326877.3_3'UTR	p.A997T	NM_022346.3	NP_071741.2	WXS	Illumina HiSeq	Phase_I	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	21	3165	+			997					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.2989G>A	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029780	0.93518	.	.	ENSG00000109805	ENST00000251496	T	0.47869	0.83	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.67249	0.2873	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.65233	0.933	T	0.66850	-0.5819	10	0.59425	D	0.04	-20.6171	17.0447	0.86499	0.0:0.0:0.8724:0.1276	.	997	Q9BPX3	CND3_HUMAN	T	997	ENSP00000251496:A997T	ENSP00000251496:A997T	A	+	1	0	NCAPG	17454087	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	2.104000	0.41815	2.937000	0.99478	0.650000	0.86243	GCA		0.368	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	0	NM_022346		4:17844989
ACOT4	122970	broad.mit.edu	37	14	74058829	74058829	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:74058829G>A	ENST00000326303.4	+	1	420	c.166G>A	c.(166-168)Gcc>Acc	p.A56T		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	56					acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		CTGCGCCGACGCCCGCGGCGA	0.771																																						ENST00000326303.4		NA																	0				endometrium(1)|large_intestine(3)|lung(4)	8						c.(166-168)Gcc>Acc		acyl-CoA thioesterase 4							6.0	6.0	6.0					14																	74058829		1943	3762	5705	SO:0001583	missense	122970				acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74058829G>A	BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.166G>A	14.37:g.74058829G>A	ENSP00000323071:p.Ala56Thr	True	False		Somatic	0					p.A56T	NM_152331.3	NP_689544.3	WXS	Illumina HiSeq	Phase_I	Q8N9L9	ACOT4_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00331)	1	420	+			56					Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Missense_Mutation	SNP	ENST00000326303.4	37	c.166G>A	CCDS9817.1	.	.	.	.	.	.	.	.	.	.	G	8.751	0.921355	0.17982	.	.	ENSG00000177465	ENST00000326303	T	0.70869	-0.52	4.93	1.98	0.26296	Acyl-CoA thioester hydrolase/bile acid-CoA amino acid N-acetyltransferase (1);	0.977348	0.08421	N	0.948373	T	0.53642	0.1809	L	0.27975	0.815	0.21355	N	0.999717	B	0.12013	0.005	B	0.04013	0.001	T	0.35176	-0.9799	10	0.25106	T	0.35	-7.8875	5.3086	0.15817	0.2258:0.0:0.6288:0.1454	.	56	Q8N9L9	ACOT4_HUMAN	T	56	ENSP00000323071:A56T	ENSP00000323071:A56T	A	+	1	0	ACOT4	73128582	0.000000	0.05858	0.174000	0.22961	0.010000	0.07245	0.021000	0.13489	0.179000	0.19938	-0.448000	0.05591	GCC		0.771	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404298.2	0	NM_152331		14:74058829
ADCY8	114	broad.mit.edu	37	8	132052268	132052268	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr8:132052268G>A	ENST00000286355.5	-	1	2404	c.312C>T	c.(310-312)tgC>tgT	p.C104C	ADCY8_ENST00000377928.3_Silent_p.C104C	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	104					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CTTTGGTGCCGCAGGTGCTGT	0.731										HNSCC(32;0.087)																												ENST00000286355.5		NA																	0				NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(310-312)tgC>tgT		adenylate cyclase 8 (brain)							5.0	6.0	6.0					8																	132052268		2147	4223	6370	SO:0001819	synonymous_variant	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132052268G>A	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.312C>T	8.37:g.132052268G>A		False	False	HNSCC(32;0.087)	Somatic	0				ADCY8_ENST00000377928.3_Silent_p.C104C	p.C104C	NM_001115.2	NP_001106.1	WXS	Illumina HiSeq	Phase_I	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		1	2404	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		104						Silent	SNP	ENST00000286355.5	37	c.312C>T	CCDS6363.1																																																																																				0.731	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1	0			8:132052268
SMARCA5	8467	broad.mit.edu	37	4	144465945	144465945	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:144465945C>T	ENST00000283131.3	+	17	2690	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	743					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GCCAACTATGCCGTTGATGCA	0.378																																						ENST00000283131.3		NA																EWSR1/SMARCA5(2)	0				endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(2227-2229)gCc>gTc		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5							153.0	146.0	148.0					4																	144465945		2203	4300	6503	SO:0001583	missense	8467				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	g.chr4:144465945C>T	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2228C>T	4.37:g.144465945C>T	ENSP00000283131:p.Ala743Val	False	False		Somatic	0					p.A743V	NM_003601.3	NP_003592.3	WXS	Illumina HiSeq	Phase_I	O60264	SMCA5_HUMAN			17	2690	+	all_hematologic(180;0.158)		743						Missense_Mutation	SNP	ENST00000283131.3	37	c.2228C>T	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	C	36	5.822060	0.96989	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91237	-2.81	5.8	5.8	0.92144	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.85682	D	0.000000	D	0.93936	0.8059	M	0.83312	2.635	0.80722	D	1	P	0.39157	0.662	P	0.47346	0.544	D	0.93056	0.6470	10	0.45353	T	0.12	-13.608	20.058	0.97661	0.0:1.0:0.0:0.0	.	743	O60264	SMCA5_HUMAN	V	743;686;686	ENSP00000283131:A743V	ENSP00000283131:A743V	A	+	2	0	SMARCA5	144685395	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.737000	0.84957	2.752000	0.94435	0.655000	0.94253	GCC		0.378	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3	0			4:144465945
AANAT	15	broad.mit.edu	37	17	74464914	74464914	+	Missense_Mutation	SNP	G	G	A	rs141006262	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:74464914G>A	ENST00000392492.3	+	2	320	c.86G>A	c.(85-87)cGc>cAc	p.R29H	AANAT_ENST00000250615.3_Missense_Mutation_p.R74H	NM_001088.2	NP_001079.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	29					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|circadian rhythm (GO:0007623)|indolalkylamine biosynthetic process (GO:0046219)|melatonin biosynthetic process (GO:0030187)|N-terminal protein amino acid acetylation (GO:0006474)|response to calcium ion (GO:0051592)|response to copper ion (GO:0046688)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to insulin (GO:0032868)|response to light stimulus (GO:0009416)|response to prostaglandin E (GO:0034695)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)	aralkylamine N-acetyltransferase activity (GO:0004059)|arylamine N-acetyltransferase activity (GO:0004060)			lung(1)	1						TGTCAGCGGCGCCACACACTC	0.662													G|||	8	0.00159744	0.0061	0.0	5008	,	,		16338	0.0		0.0	False		,,,				2504	0.0					ENST00000250615.3		NA																	0				lung(1)	1						c.(220-222)cGc>cAc		aralkylamine N-acetyltransferase		G	HIS/ARG,HIS/ARG	14,4392	22.3+/-47.3	0,14,2189	46.0	45.0	45.0		86,221	4.3	1.0	17	dbSNP_134	45	0,8600		0,0,4300	yes	missense,missense	AANAT	NM_001088.2,NM_001166579.1	29,29	0,14,6489	AA,AG,GG		0.0,0.3177,0.1076	probably-damaging,probably-damaging	29/208,74/253	74464914	14,12992	2203	4300	6503	SO:0001583	missense	15				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity	g.chr17:74464914G>A	U40347	CCDS11745.1, CCDS54169.1	17q25.1	2013-10-15	2010-05-07		ENSG00000129673	ENSG00000129673	2.3.1.87		19	protein-coding gene	gene with protein product	"""serotonin N-acetyltransferase"""	600950	"""arylalkylamine N-acetyltransferase"""			8661026	Standard	NM_001088		Approved	SNAT	uc002jro.3	Q16613	OTTHUMG00000180179	ENST00000392492.3:c.86G>A	17.37:g.74464914G>A	ENSP00000376282:p.Arg29His	False	False		Somatic	0				AANAT_ENST00000392492.3_Missense_Mutation_p.R29H	p.R74H	NM_001166579.1	NP_001160051.1	WXS	Illumina HiSeq	Phase_I	Q16613	SNAT_HUMAN			5	1228	+			29			N-acetyltransferase.		A0AVF2|J3KMZ5|Q562F4	Missense_Mutation	SNP	ENST00000392492.3	37	c.221G>A	CCDS11745.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	22.0	4.226616	0.79576	0.003177	0.0	ENSG00000129673	ENST00000250615;ENST00000392492	T;T	0.55930	0.49;0.6	4.31	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79429	-0.1807	10	0.72032	D	0.01	-6.0846	16.7956	0.85601	0.0:0.0:1.0:0.0	.	29	Q16613	SNAT_HUMAN	H	74;29	ENSP00000250615:R74H;ENSP00000376282:R29H	ENSP00000250615:R74H	R	+	2	0	AANAT	71976509	1.000000	0.71417	0.987000	0.45799	0.752000	0.42762	9.117000	0.94347	1.942000	0.56320	0.462000	0.41574	CGC		0.662	AANAT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450130.1	0	NM_001088		17:74464914
PLB1	151056	broad.mit.edu	37	2	28826861	28826861	+	Missense_Mutation	SNP	C	C	T	rs548225932		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:28826861C>T	ENST00000327757.5	+	40	2847	c.2803C>T	c.(2803-2805)Cgg>Tgg	p.R935W	PLB1_ENST00000541605.1_Intron|PLB1_ENST00000422425.2_Missense_Mutation_p.R924W	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	935	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TCTGACCCTGCGGGAGAACTC	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18914	0.0		0.0	False		,,,				2504	0.001					ENST00000422425.2		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69						c.(2770-2772)Cgg>Tgg		phospholipase B1							83.0	74.0	77.0					2																	28826861		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28826861C>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2803C>T	2.37:g.28826861C>T	ENSP00000330442:p.Arg935Trp	True	False		Somatic	0				PLB1_ENST00000327757.5_Missense_Mutation_p.R935W|PLB1_ENST00000541605.1_Intron	p.R924W	NM_001170585.1	NP_001164056.1	WXS	Illumina HiSeq	Phase_I	Q6P1J6	PLB1_HUMAN			39	2814	+	Acute lymphoblastic leukemia(172;0.155)		935			4 X 308-326 AA approximate repeats.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.2770C>T	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	C	18.31	3.595327	0.66219	.	.	ENSG00000163803	ENST00000327757;ENST00000422425	T;T	0.14144	2.53;2.53	5.42	-2.49	0.06403	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.806235	0.10925	N	0.618969	T	0.29061	0.0722	M	0.74881	2.28	0.21878	N	0.999492	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.12785	-1.0534	10	0.66056	D	0.02	-9.4276	4.5013	0.11865	0.5745:0.2231:0.1199:0.0825	.	924;935	Q6P1J6-3;Q6P1J6	.;PLB1_HUMAN	W	935;924	ENSP00000330442:R935W;ENSP00000416440:R924W	ENSP00000330442:R935W	R	+	1	2	PLB1	28680365	0.000000	0.05858	0.022000	0.16811	0.993000	0.82548	-0.785000	0.04628	-0.179000	0.10654	0.555000	0.69702	CGG		0.607	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2	0			2:28826861
NDUFAF7	55471	broad.mit.edu	37	2	37474607	37474607	+	Silent	SNP	C	C	T	rs192973218	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:37474607C>T	ENST00000002125.4	+	9	985	c.945C>T	c.(943-945)tgC>tgT	p.C315C	NDUFAF7_ENST00000336237.6_Silent_p.C217C	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	315					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										AGGGGTTTTGCGACCACAAGC	0.343													c|||	2	0.000399361	0.0	0.0014	5008	,	,		17943	0.0		0.0	False		,,,				2504	0.001					ENST00000002125.4		NA																	0					NA						c.(943-945)tgC>tgT		NADH dehydrogenase (ubiquinone) complex I, assembly factor 7		C	,	2,4404	4.2+/-10.8	0,2,2201	86.0	79.0	82.0		651,945	-1.4	1.0	2		82	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C2orf56	NM_001083946.1,NM_144736.4	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	217/344,315/442	37474607	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55471							g.chr2:37474607C>T		CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.945C>T	2.37:g.37474607C>T		False	False		Somatic	0				NDUFAF7_ENST00000336237.6_Silent_p.C217C	p.C315C	NM_144736.4	NP_653337.1	WXS	Illumina HiSeq	Phase_I					9	985	+			NA					Q7Z399|Q9P1G3	Silent	SNP	ENST00000002125.4	37	c.945C>T	CCDS1788.1																																																																																				0.343	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250267.1	0	NM_144736		2:37474607
ARID1A	8289	broad.mit.edu	37	1	27105586	27105586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:27105586G>T	ENST00000324856.7	+	20	5568	c.5197G>T	c.(5197-5199)Gag>Tag	p.E1733*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E61*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1516*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1350*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1733					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.E1733*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATTTTAAAGGAGTATGAGGT	0.478			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7		NA		Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	1	Substitution - Nonsense(1)	p.E1733*(1)	endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5197-5199)Gag>Tag		AT rich interactive domain 1A (SWI-like)							138.0	148.0	144.0					1																	27105586		2203	4300	6503	SO:0001587	stop_gained	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105586G>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5197G>T	1.37:g.27105586G>T	ENSP00000320485:p.Glu1733*	False	False		Somatic	0				ARID1A_ENST00000457599.2_Nonsense_Mutation_p.E1516*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1350*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.E61*	p.E1733*	NM_006015.4	NP_006006.3	WXS	Illumina HiSeq	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5568	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1733					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	ENST00000324856.7	37	c.5197G>T	CCDS285.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.761334|9.761334	0.99257|0.99257	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690|ENST00000430799	.|.	.|.	.|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74596	.|0.3737	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73119	.|-0.4083	.|4	0.49607|.	T|.	0.09|.	-13.7961|-13.7961	18.7335|18.7335	0.91744|0.91744	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	1733;1516;1350;61|629	.|.	ENSP00000320485:E1733X|.	E|G	+|+	1|2	0|0	ARID1A|ARID1A	26978173|26978173	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.084000|9.084000	0.94076|0.94076	2.738000|2.738000	0.93877|0.93877	0.591000|0.591000	0.81541|0.81541	GAG|GGA		0.478	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	0	NM_139135		1:27105586
CDH11	1009	broad.mit.edu	37	16	64981668	64981668	+	Silent	SNP	G	G	A	rs145843219	byFrequency	TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:64981668G>A	ENST00000268603.4	-	13	2844	c.2229C>T	c.(2227-2229)taC>taT	p.Y743Y	CDH11_ENST00000566827.1_Silent_p.Y617Y|CDH11_ENST00000394156.3_3'UTR	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	743					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTTCATAACCGTAGATTTGAA	0.537			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G|||	6	0.00119808	0.0008	0.0043	5008	,	,		16855	0.0		0.0	False		,,,				2504	0.002					ENST00000268603.4		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(2227-2229)taC>taT		cadherin 11, type 2, OB-cadherin (osteoblast)		G		4,4402	8.1+/-20.4	0,4,2199	90.0	89.0	90.0		2229	-3.0	0.9	16	dbSNP_134	90	9,8591	7.1+/-27.0	0,9,4291	no	coding-synonymous	CDH11	NM_001797.2		0,13,6490	AA,AG,GG		0.1047,0.0908,0.1		743/797	64981668	13,12993	2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64981668G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.2229C>T	16.37:g.64981668G>A		False	False	TSP Lung(24;0.17)	Somatic	0				CDH11_ENST00000394156.3_3'UTR|CDH11_ENST00000566827.1_Silent_p.Y617Y	p.Y743Y	NM_001797.2	NP_001788.2	WXS	Illumina HiSeq	Phase_I	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	13	2844	-		Ovarian(137;0.0973)	743					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.2229C>T	CCDS10803.1																																																																																				0.537	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	0	NM_033664		16:64981668
FAM63A	55793	broad.mit.edu	37	1	150971955	150971955	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:150971955C>T	ENST00000361936.5	-	8	1825	c.871G>A	c.(871-873)Gcg>Acg	p.A291T	FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000361738.6_Missense_Mutation_p.A339T|FAM63A_ENST00000312210.5_Missense_Mutation_p.A149T|FAM63A_ENST00000493834.2_Missense_Mutation_p.A196T	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	291						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCTGGGCCGCGGTGGTCTCC	0.547																																						ENST00000361936.5		NA																	0				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(871-873)Gcg>Acg		family with sequence similarity 63, member A							144.0	140.0	141.0					1																	150971955		2203	4300	6503	SO:0001583	missense	55793						protein binding	g.chr1:150971955C>T	BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.871G>A	1.37:g.150971955C>T	ENSP00000354814:p.Ala291Thr	False	False		Somatic	0				FAM63A_ENST00000493834.2_Missense_Mutation_p.A196T|FAM63A_ENST00000361738.6_Missense_Mutation_p.A339T|FAM63A_ENST00000470877.1_5'UTR|FAM63A_ENST00000312210.5_Missense_Mutation_p.A149T	p.A291T	NM_018379.4	NP_060849.2	WXS	Illumina HiSeq	Phase_I	Q8N5J2	FA63A_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	1825	-	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		291					B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	c.871G>A	CCDS976.1	.	.	.	.	.	.	.	.	.	.	C	35	5.556802	0.96514	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.54675	0.63;0.6;0.56;0.66	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.70072	0.3182	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.944;0.997	T	0.72846	-0.4169	10	0.56958	D	0.05	-20.127	16.156	0.81666	0.0:1.0:0.0:0.0	.	339;291	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	T	149;291;339;196	ENSP00000310923:A149T;ENSP00000354814:A291T;ENSP00000354669:A339T;ENSP00000437174:A196T	ENSP00000310923:A149T	A	-	1	0	FAM63A	149238579	1.000000	0.71417	0.141000	0.22245	0.816000	0.46133	7.540000	0.82074	2.687000	0.91594	0.655000	0.94253	GCG		0.547	FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	0	NM_018379		1:150971955
KRT25	147183	broad.mit.edu	37	17	38907438	38907438	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:38907438C>T	ENST00000312150.4	-	4	870	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_181534.3	NP_853512.1			keratin 25											endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ACCAGGCCTCCGCGTCCCTGC	0.532																																						ENST00000312150.4		NA																	0				endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(808-810)gcG>gcA		keratin 25							90.0	76.0	81.0					17																	38907438		2203	4300	6503	SO:0001819	synonymous_variant	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38907438C>T	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.810G>A	17.37:g.38907438C>T		False	False		Somatic	0					p.A270A	NM_181534.3	NP_853512.1	WXS	Illumina HiSeq	Phase_I	Q7Z3Z0	K1C25_HUMAN			4	870	-		Breast(137;0.00526)	270			Coil 2.|Rod.			Silent	SNP	ENST00000312150.4	37	c.810G>A	CCDS11373.1																																																																																				0.532	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	0	NM_181534		17:38907438
HDAC5	10014	broad.mit.edu	37	17	42157539	42157539	+	Silent	SNP	G	G	A	rs371025868		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:42157539G>A	ENST00000393622.2	-	23	3211	c.2880C>T	c.(2878-2880)tcC>tcT	p.S960S	HDAC5_ENST00000225983.6_Silent_p.S961S|HDAC5_ENST00000336057.5_Silent_p.S875S|HDAC5_ENST00000586802.1_Silent_p.S960S	NM_001015053.1|NM_005474.4	NP_001015053.1|NP_005465.2	Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	960	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|chromatin silencing (GO:0006342)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|inflammatory response (GO:0006954)|multicellular organismal response to stress (GO:0033555)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|osteoblast development (GO:0002076)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression, epigenetic (GO:0040029)|regulation of myotube differentiation (GO:0010830)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|histone deacetylase complex (GO:0000118)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CAAACCCGGCGGAGACTAGGA	0.577																																						ENST00000225983.6		NA																	0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21						c.(2881-2883)tcC>tcT		histone deacetylase 5							144.0	115.0	125.0					17																	42157539		2203	4300	6503	SO:0001819	synonymous_variant	10014				B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	g.chr17:42157539G>A	AF249731	CCDS32663.1, CCDS45696.1	17q21	2008-07-18					3.5.1.98		14068	protein-coding gene	gene with protein product		605315				10220385, 9610721	Standard	XM_005256905		Approved	KIAA0600, NY-CO-9, FLJ90614	uc002iff.1	Q9UQL6		ENST00000393622.2:c.2880C>T	17.37:g.42157539G>A		False	False		Somatic	0				HDAC5_ENST00000336057.5_Silent_p.S875S|HDAC5_ENST00000586802.1_Silent_p.S960S|HDAC5_ENST00000393622.2_Silent_p.S960S	p.S961S			WXS	Illumina HiSeq	Phase_I	Q9UQL6	HDAC5_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.118)	23	3206	-		Breast(137;0.00637)|Prostate(33;0.0313)	960			Histone deacetylase.		C9JFV9|O60340|O60528|Q96DY4	Silent	SNP	ENST00000393622.2	37	c.2883C>T	CCDS45696.1																																																																																				0.577	HDAC5-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457686.1	0	NM_001015053		17:42157539
PTPRT	11122	broad.mit.edu	37	20	40827887	40827887	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr20:40827887G>A	ENST00000373187.1	-	16	2483	c.2484C>T	c.(2482-2484)aaC>aaT	p.N828N	PTPRT_ENST00000373184.1_Silent_p.N818N|PTPRT_ENST00000373201.1_Silent_p.N818N|PTPRT_ENST00000373190.1_Silent_p.N828N|PTPRT_ENST00000356100.2_Silent_p.N837N|PTPRT_ENST00000373193.3_Silent_p.N831N|PTPRT_ENST00000373198.4_Silent_p.N847N			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	828					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACTGAATCCGTTGACGTCCT	0.562																																						ENST00000373198.3		NA																	0				NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(2548-2550)aaC>aaT		protein tyrosine phosphatase, receptor type, T							383.0	383.0	383.0					20																	40827887		2057	4199	6256	SO:0001819	synonymous_variant	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40827887G>A	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.2484C>T	20.37:g.40827887G>A		False	False		Somatic	0				PTPRT_ENST00000373190.1_Silent_p.N828N|PTPRT_ENST00000356100.2_Silent_p.N837N|PTPRT_ENST00000373187.1_Silent_p.N828N|PTPRT_ENST00000373184.1_Silent_p.N818N|PTPRT_ENST00000373193.3_Silent_p.N831N|PTPRT_ENST00000373201.1_Silent_p.N818N	p.N850N	NM_133170.3	NP_573400.3	WXS	Illumina HiSeq	Phase_I	O14522	PTPRT_HUMAN			17	2785	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	828					A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	ENST00000373187.1	37	c.2550C>T	CCDS42874.1																																																																																				0.562	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1	0			20:40827887
ZNF366	167465	broad.mit.edu	37	5	71756620	71756620	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:71756620T>C	ENST00000318442.5	-	2	1194	c.704A>G	c.(703-705)aAc>aGc	p.N235S		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	235					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GATCTGCACGTTCACGTCCAC	0.632																																						ENST00000318442.5		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(703-705)aAc>aGc		zinc finger protein 366							135.0	130.0	132.0					5																	71756620		2203	4300	6503	SO:0001583	missense	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756620T>C	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.704A>G	5.37:g.71756620T>C	ENSP00000313158:p.Asn235Ser	False	False		Somatic	0					p.N235S	NM_152625.1	NP_689838.1	WXS	Illumina HiSeq	Phase_I	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1194	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	235					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.704A>G	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608532	0.46527	.	.	ENSG00000178175	ENST00000318442	T	0.08370	3.1	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.08447	0.0210	L	0.42686	1.345	0.47276	D	0.999379	P	0.43750	0.816	B	0.32762	0.152	T	0.12268	-1.0554	10	0.45353	T	0.12	-66.6731	16.3979	0.83621	0.0:0.0:0.0:1.0	.	235	Q8N895	ZN366_HUMAN	S	235	ENSP00000313158:N235S	ENSP00000313158:N235S	N	-	2	0	ZNF366	71792376	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.472000	0.53114	2.279000	0.76181	0.459000	0.35465	AAC		0.632	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3	0			5:71756620
TTC13	79573	broad.mit.edu	37	1	231090100	231090100	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:231090100C>T	ENST00000366661.4	-	4	499	c.492G>A	c.(490-492)cgG>cgA	p.R164R	TTC13_ENST00000414259.1_Silent_p.R164R|TTC13_ENST00000366662.4_Silent_p.R164R	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	164										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTGAAAAATGCCGTATTGCTT	0.308																																						ENST00000366661.4		NA																	0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(490-492)cgG>cgA		tetratricopeptide repeat domain 13							59.0	58.0	58.0					1																	231090100		2203	4299	6502	SO:0001819	synonymous_variant	79573						binding	g.chr1:231090100C>T		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.492G>A	1.37:g.231090100C>T		False	False		Somatic	0				TTC13_ENST00000414259.1_Silent_p.R164R|TTC13_ENST00000366662.4_Silent_p.R164R	p.R164R	NM_024525.4	NP_078801.3	WXS	Illumina HiSeq	Phase_I	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	4	499	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	164					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Silent	SNP	ENST00000366661.4	37	c.492G>A	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	C	9.882	1.201847	0.22121	.	.	ENSG00000143643	ENST00000522821	.	.	.	5.56	-0.919	0.10478	.	.	.	.	.	T	0.57932	0.2087	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54316	-0.8312	4	.	.	.	-2.1619	11.0157	0.47687	0.0:0.336:0.0:0.664	.	.	.	.	D	153	.	.	G	-	2	0	TTC13	229156723	0.983000	0.35010	0.997000	0.53966	0.988000	0.76386	-0.017000	0.12590	-0.096000	0.12329	-0.140000	0.14226	GGC		0.308	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	0	NM_024525		1:231090100
CACNG4	27092	broad.mit.edu	37	17	65021069	65021069	+	Missense_Mutation	SNP	G	G	A	rs576033468		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:65021069G>A	ENST00000262138.3	+	3	400	c.398G>A	c.(397-399)cGc>cAc	p.R133H		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	133					membrane depolarization (GO:0051899)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			ATCTACAGCCGCAAGAACAAC	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		18555	0.0		0.0	False		,,,				2504	0.001					ENST00000262138.3		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19						c.(397-399)cGc>cAc		calcium channel, voltage-dependent, gamma subunit 4							99.0	85.0	90.0					17																	65021069		2203	4300	6503	SO:0001583	missense	27092				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity	g.chr17:65021069G>A	AH008289	CCDS11667.1	17q24	2006-01-23				ENSG00000075461		"""Calcium channel subunits"""	1408	protein-coding gene	gene with protein product		606404				10613843	Standard	NM_014405		Approved	MGC11138, MGC24983	uc002jft.2	Q9UBN1		ENST00000262138.3:c.398G>A	17.37:g.65021069G>A	ENSP00000262138:p.Arg133His	False	False		Somatic	0					p.R133H	NM_014405.3	NP_055220.1	WXS	Illumina HiSeq	Phase_I	Q9UBN1	CCG4_HUMAN	BRCA - Breast invasive adenocarcinoma(6;1.35e-07)		3	400	+	all_cancers(12;9.86e-11)		133					B2RCK0	Missense_Mutation	SNP	ENST00000262138.3	37	c.398G>A	CCDS11667.1	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668071	0.47677	.	.	ENSG00000075461	ENST00000262138	D	0.88664	-2.41	4.81	3.83	0.44106	.	0.294943	0.41097	D	0.000949	T	0.80486	0.4632	N	0.16368	0.405	0.40796	D	0.983295	P	0.49961	0.93	B	0.40741	0.339	T	0.80165	-0.1496	10	0.32370	T	0.25	-3.4274	15.337	0.74266	0.0:0.1405:0.8595:0.0	.	133	Q9UBN1	CCG4_HUMAN	H	133	ENSP00000262138:R133H	ENSP00000262138:R133H	R	+	2	0	CACNG4	62451531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.572000	0.36461	1.136000	0.42199	0.561000	0.74099	CGC		0.672	CACNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447036.1	0	NM_014405		17:65021069
PPL	5493	broad.mit.edu	37	16	4935121	4935121	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr16:4935121G>A	ENST00000345988.2	-	22	3624	c.3535C>T	c.(3535-3537)Cgg>Tgg	p.R1179W	PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1179					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GGGTCTGGCCGCACGATCTCC	0.627																																						ENST00000345988.2		NA																	0				breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						c.(3535-3537)Cgg>Tgg		periplakin							107.0	97.0	100.0					16																	4935121		2197	4300	6497	SO:0001583	missense	5493				keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	g.chr16:4935121G>A	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.3535C>T	16.37:g.4935121G>A	ENSP00000340510:p.Arg1179Trp	False	False		Somatic	0				PPL_ENST00000590782.2_Missense_Mutation_p.R1177W	p.R1179W	NM_002705.4	NP_002696.3	WXS	Illumina HiSeq	Phase_I	O60437	PEPL_HUMAN			22	3624	-			1179					O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	c.3535C>T	CCDS10526.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222315	0.79464	.	.	ENSG00000118898	ENST00000345988	T	0.56941	0.43	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74520	0.3727	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76473	-0.2946	10	0.87932	D	0	.	19.7311	0.96182	0.0:0.0:1.0:0.0	.	1179	O60437	PEPL_HUMAN	W	1179	ENSP00000340510:R1179W	ENSP00000340510:R1179W	R	-	1	2	PPL	4875122	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	5.493000	0.66899	2.677000	0.91161	0.561000	0.74099	CGG		0.627	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1	0	NM_002705		16:4935121
GPR179	440435	broad.mit.edu	37	17	36491506	36491506	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:36491506G>A	ENST00000342292.4	-	6	1394	c.1374C>T	c.(1372-1374)atC>atT	p.I458I		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	458					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGCCGTAGACGATGGCAAAAC	0.547																																						ENST00000342292.4		NA																	0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1372-1374)atC>atT		G protein-coupled receptor 179							73.0	82.0	79.0					17																	36491506		2064	4223	6287	SO:0001819	synonymous_variant	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36491506G>A		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1374C>T	17.37:g.36491506G>A		False	False		Somatic	0					p.I458I	NM_001004334.2	NP_001004334.2	WXS	Illumina HiSeq	Phase_I	Q6PRD1	GP179_HUMAN			6	1394	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	458						Silent	SNP	ENST00000342292.4	37	c.1374C>T	CCDS42308.1																																																																																				0.547	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2	0			17:36491506
TMEM30A	55754	broad.mit.edu	37	6	75974982	75974982	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:75974982C>G	ENST00000230461.6	-	3	747	c.418G>C	c.(418-420)Gat>Cat	p.D140H	TMEM30A_ENST00000370050.5_Missense_Mutation_p.D21H|TMEM30A_ENST00000475111.2_Missense_Mutation_p.D104H	NM_018247.3	NP_060717.1	Q9NV96	CC50A_HUMAN	transmembrane protein 30A	140					drug transmembrane transport (GO:0006855)|phospholipid translocation (GO:0045332)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endosome (GO:0036010)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTTGACTATCATCTCGAGAT	0.313																																						ENST00000230461.6		NA																	0				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(418-420)Gat>Cat		transmembrane protein 30A							79.0	76.0	77.0					6																	75974982		2203	4300	6503	SO:0001583	missense	55754					integral to membrane		g.chr6:75974982C>G	AK001718	CCDS4983.1, CCDS47453.1	6q14.1	2014-01-28	2004-06-17	2004-06-18	ENSG00000112697	ENSG00000112697			16667	protein-coding gene	gene with protein product		611028	"""chromosome 6 open reading frame 67"""	C6orf67		15375526	Standard	NM_001143958		Approved	FLJ10856, CDC50A	uc003phw.2	Q9NV96	OTTHUMG00000015050	ENST00000230461.6:c.418G>C	6.37:g.75974982C>G	ENSP00000230461:p.Asp140His	False	False		Somatic	0				TMEM30A_ENST00000370050.5_Missense_Mutation_p.D21H|TMEM30A_ENST00000475111.2_Missense_Mutation_p.D104H	p.D140H	NM_018247.3	NP_060717.1	WXS	Illumina HiSeq	Phase_I	Q9NV96	CC50A_HUMAN			3	747	-			140					A8K9V8|E1P539|Q658Z3|Q96H09|Q9NSL9	Missense_Mutation	SNP	ENST00000230461.6	37	c.418G>C	CCDS4983.1	.	.	.	.	.	.	.	.	.	.	C	33	5.267513	0.95399	.	.	ENSG00000112697	ENST00000230461;ENST00000545449;ENST00000370050;ENST00000475111;ENST00000518161	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	M	0.81682	2.555	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.986;0.995	T	0.81690	-0.0818	9	0.62326	D	0.03	.	20.547	0.99278	0.0:1.0:0.0:0.0	.	104;140	Q9NV96-2;Q9NV96	.;CC50A_HUMAN	H	140;124;21;104;21	.	ENSP00000230461:D140H	D	-	1	0	TMEM30A	76031702	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.719000	0.84751	2.850000	0.98022	0.650000	0.86243	GAT		0.313	TMEM30A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041248.2	0	NM_018247		6:75974982
CASC3	22794	broad.mit.edu	37	17	38324149	38324149	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:38324149G>A	ENST00000264645.7	+	10	1924	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	566	Necessary for localization in cytoplasmic stress granules.				gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCCCTGCCCCGCTGCCTCCAC	0.502																																						ENST00000264645.7		NA																	0				endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						c.(1696-1698)ccG>ccA		cancer susceptibility candidate 3							160.0	142.0	148.0					17																	38324149		2203	4300	6503	SO:0001819	synonymous_variant	22794				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding	g.chr17:38324149G>A	X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.1698G>A	17.37:g.38324149G>A		True	False		Somatic	0					p.P566P	NM_007359.4	NP_031385.2	WXS	Illumina HiSeq	Phase_I	O15234	CASC3_HUMAN			10	1924	+			566			Necessary for localization in cytoplasmic stress granules.		A8K8R0	Silent	SNP	ENST00000264645.7	37	c.1698G>A	CCDS11362.1																																																																																				0.502	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257127.3	0	NM_007359		17:38324149
PPP2R2C	5522	broad.mit.edu	37	4	6383543	6383543	+	Intron	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:6383543G>A	ENST00000382599.4	-	2	287				PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000335585.5_Missense_Mutation_p.P11S|PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000515571.1_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma						regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCCTGGATGGGCAAGTGTTTG	0.527																																						ENST00000335585.5		NA																	0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						c.(31-33)Ccc>Tcc		protein phosphatase 2, regulatory subunit B, gamma							109.0	113.0	112.0					4																	6383543		2203	4300	6503	SO:0001627	intron_variant	5522				signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	g.chr4:6383543G>A	AF086924	CCDS3388.1, CCDS56304.1, CCDS56305.1, CCDS3387.1	4p16.1	2013-01-10	2010-04-14		ENSG00000074211	ENSG00000074211	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9306	protein-coding gene	gene with protein product	"""PP2A subunit B isoform gamma"""	605997	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), gamma isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, gamma isoform"""			10574460, 10945473	Standard	NM_020416		Approved	PR52, IMYPNO, MGC33570, PR55G	uc003gja.3	Q9Y2T4	OTTHUMG00000090445	ENST00000382599.4:c.71-722C>T	4.37:g.6383543G>A		True	False		Somatic	0				PPP2R2C_ENST00000506140.1_Intron|PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000382599.4_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000515571.1_Intron	p.P11S	NM_181876.2	NP_870991.1	WXS	Illumina HiSeq	Phase_I	Q9Y2T4	2ABG_HUMAN			1	54	-			0					A8MSY7|B7Z3Y1|Q7Z4V7|Q8NEC4|Q9H3G7	Missense_Mutation	SNP	ENST00000382599.4	37	c.31C>T		.	.	.	.	.	.	.	.	.	.	G	2.380	-0.342224	0.05243	.	.	ENSG00000074211	ENST00000335585	T	0.28895	1.59	1.56	1.56	0.23342	.	.	.	.	.	T	0.12860	0.0312	.	.	.	0.20074	N	0.999932	B	0.02656	0.0	B	0.04013	0.001	T	0.32534	-0.9903	8	0.08179	T	0.78	.	6.5765	0.22569	0.0:0.0:1.0:0.0	.	11	Q9Y2T4-2	.	S	11	ENSP00000335083:P11S	ENSP00000335083:P11S	P	-	1	0	PPP2R2C	6434444	0.024000	0.19004	0.061000	0.19648	0.019000	0.09904	0.470000	0.22084	1.194000	0.43101	0.561000	0.74099	CCC		0.527	PPP2R2C-001	NOVEL	overlapping_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206889.2	0	NM_181876		4:6383543
IGF1R	3480	broad.mit.edu	37	15	99454671	99454671	+	Splice_Site	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:99454671G>A	ENST00000268035.6	+	7	2200		c.e7+1		IGF1R_ENST00000558762.1_Splice_Site	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor						axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	ACAAGGAAGCGTGAGTTTCTG	0.537																																						ENST00000268035.6		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.e7+1		insulin-like growth factor 1 receptor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						158.0	141.0	147.0					15																	99454671		2197	4297	6494	SO:0001630	splice_region_variant	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99454671G>A	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.1589+1G>A	15.37:g.99454671G>A		False	False		Somatic	0				IGF1R_ENST00000558762.1_Splice_Site		NM_000875.3	NP_000866.1	WXS	Illumina HiSeq	Phase_I	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		7	2200	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		NA					B1B5Y2|Q14CV2|Q9UCC0	Splice_Site	SNP	ENST00000268035.6	37		CCDS10378.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005527	0.93287	.	.	ENSG00000140443	ENST00000268035	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1313	0.98000	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IGF1R	97272194	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.778000	0.99011	2.837000	0.97791	0.655000	0.94253	.		0.537	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2	0	NM_000875	Intron	15:99454671
KRTAP21-1	337977	broad.mit.edu	37	21	32127654	32127654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr21:32127654C>T	ENST00000335093.3	-	1	92	c.43G>A	c.(43-45)Ggc>Agc	p.G15S		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	15			G -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.			intermediate filament (GO:0005882)		p.G15S(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						cagccacagccggagccatag	0.537																																						ENST00000335093.3		NA																	1	Substitution - Missense(1)	p.G15S(1)	breast(1)	breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						c.(43-45)Ggc>Agc		keratin associated protein 21-1							126.0	117.0	120.0					21																	32127654		2203	4300	6503	SO:0001583	missense	337977					intermediate filament		g.chr21:32127654C>T	AP001709	CCDS13606.1	21q22.1	2006-03-13			ENSG00000187005	ENSG00000187005		"""Keratin associated proteins"""	18945	protein-coding gene	gene with protein product						12359730	Standard	NM_181619		Approved	KAP21.1	uc011adi.2	Q3LI58	OTTHUMG00000057777	ENST00000335093.3:c.43G>A	21.37:g.32127654C>T	ENSP00000335566:p.Gly15Ser	False	False		Somatic	0					p.G15S	NM_181619.1	NP_853650.1	WXS	Illumina HiSeq	Phase_I	Q3LI58	KR211_HUMAN			1	92	-			15		G -> S (in a breast cancer sample; somatic mutation).				Missense_Mutation	SNP	ENST00000335093.3	37	c.43G>A	CCDS13606.1	.	.	.	.	.	.	.	.	.	.	C	8.706	0.910980	0.17833	.	.	ENSG00000187005	ENST00000335093	.	.	.	4.17	3.26	0.37387	.	.	.	.	.	T	0.57330	0.2046	.	.	.	0.23739	N	0.996979	D	0.89917	1.0	D	0.75020	0.985	T	0.40813	-0.9543	7	0.45353	T	0.12	.	9.2597	0.37605	0.2151:0.7849:0.0:0.0	.	15	Q3LI58	KR211_HUMAN	S	15	.	ENSP00000335566:G15S	G	-	1	0	KRTAP21-1	31049525	0.000000	0.05858	0.906000	0.35671	0.230000	0.25150	-0.171000	0.09883	1.293000	0.44690	0.609000	0.83330	GGC		0.537	KRTAP21-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128229.2	0			21:32127654
GRB14	2888	broad.mit.edu	37	2	165353909	165353909	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:165353909G>A	ENST00000263915.3	-	10	1734	c.1196C>T	c.(1195-1197)gCg>gTg	p.A399V	GRB14_ENST00000543549.1_Missense_Mutation_p.A312V|GRB14_ENST00000497306.1_5'Flank	NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	399					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCTTCAACCGCAACTGAAAG	0.393																																						ENST00000263915.3		NA																	0				breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(1195-1197)gCg>gTg		growth factor receptor-bound protein 14							98.0	100.0	99.0					2																	165353909		2203	4300	6503	SO:0001583	missense	2888				blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity	g.chr2:165353909G>A		CCDS2222.1	2q22-q24	2013-02-14			ENSG00000115290	ENSG00000115290		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4565	protein-coding gene	gene with protein product		601524				8812444	Standard	XM_005246477		Approved		uc002ucl.3	Q14449	OTTHUMG00000132135	ENST00000263915.3:c.1196C>T	2.37:g.165353909G>A	ENSP00000263915:p.Ala399Val	False	False		Somatic	0				GRB14_ENST00000543549.1_Missense_Mutation_p.A312V	p.A399V	NM_004490.2	NP_004481.2	WXS	Illumina HiSeq	Phase_I	Q14449	GRB14_HUMAN			10	1734	-			399					B7Z7F9|Q7Z6I1	Missense_Mutation	SNP	ENST00000263915.3	37	c.1196C>T	CCDS2222.1	.	.	.	.	.	.	.	.	.	.	G	34	5.400675	0.96030	.	.	ENSG00000115290	ENST00000263915;ENST00000543549;ENST00000446413	T;T;T	0.39229	1.67;1.75;1.09	5.81	5.81	0.92471	BPS (Between PH and SH2) domain (1);	0.000000	0.85682	D	0.000000	T	0.67116	0.2859	M	0.79475	2.455	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67900	0.954;0.954	T	0.68051	-0.5511	10	0.59425	D	0.04	-15.2997	20.0825	0.97783	0.0:0.0:1.0:0.0	.	312;399	B7Z7F9;Q14449	.;GRB14_HUMAN	V	399;312;354	ENSP00000263915:A399V;ENSP00000443699:A312V;ENSP00000416786:A354V	ENSP00000263915:A399V	A	-	2	0	GRB14	165062155	1.000000	0.71417	0.996000	0.52242	0.875000	0.50365	9.869000	0.99810	2.746000	0.94184	0.655000	0.94253	GCG		0.393	GRB14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255180.2	0			2:165353909
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4		NA																	0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G		True	False		Somatic	0					p.P328P	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9090831
XPNPEP1	7511	broad.mit.edu	37	10	111630550	111630550	+	Silent	SNP	G	G	A	rs143796899		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr10:111630550G>A	ENST00000502935.1	-	18	1754	c.1635C>T	c.(1633-1635)tgC>tgT	p.C545C	XPNPEP1_ENST00000369680.4_Silent_p.C502C|XPNPEP1_ENST00000322238.8_Silent_p.C521C|U4_ENST00000607255.1_RNA|XPNPEP1_ENST00000369683.1_Silent_p.C431C					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.C502C(2)|p.C545C(2)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACTGATGCCGCAAGGACCCT	0.498																																						ENST00000369680.4		NA																	4	Substitution - coding silent(4)	p.C502C(2)|p.C545C(2)	lung(4)	endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1504-1506)tgC>tgT		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							174.0	154.0	161.0					10																	111630550		2203	4300	6503	SO:0001819	synonymous_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111630550G>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1635C>T	10.37:g.111630550G>A		False	False		Somatic	0				XPNPEP1_ENST00000369683.1_Silent_p.C431C|XPNPEP1_ENST00000502935.1_Silent_p.C545C|XPNPEP1_ENST00000322238.8_Silent_p.C521C	p.C502C	NM_020383.3	NP_065116.3	WXS	Illumina HiSeq	Phase_I	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	18	1754	-		Breast(234;0.174)	502						Silent	SNP	ENST00000502935.1	37	c.1506C>T	CCDS7560.2																																																																																				0.498	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2	0			10:111630550
PSMD4	5710	broad.mit.edu	37	1	151238835	151238835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:151238835G>A	ENST00000368884.3	+	8	895	c.815G>A	c.(814-816)cGc>cAc	p.R272H	PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	272					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GAGTTTGGCCGCACTGGGCTT	0.547																																						ENST00000368884.3		NA																	0				breast(2)|endometrium(1)|kidney(1)|lung(7)	11						c.(814-816)cGc>cAc		proteasome (prosome, macropain) 26S subunit, non-ATPase, 4																																				SO:0001583	missense	5710				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding	g.chr1:151238835G>A	U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.815G>A	1.37:g.151238835G>A	ENSP00000357879:p.Arg272His	False	False		Somatic	0				PSMD4_ENST00000368881.4_Missense_Mutation_p.R275H	p.R272H	NM_002810.2	NP_002801.1	WXS	Illumina HiSeq	Phase_I	P55036	PSMD4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		8	895	+	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		272					D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	ENST00000368884.3	37	c.815G>A	CCDS991.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.098238	0.56183	.	.	ENSG00000159352	ENST00000368884;ENST00000368881	.	.	.	5.23	5.23	0.72850	.	0.227301	0.36303	N	0.002675	T	0.40522	0.1120	L	0.29908	0.895	0.42288	D	0.992129	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.23583	-1.0184	9	0.42905	T	0.14	-14.4967	18.5873	0.91194	0.0:0.0:1.0:0.0	.	275;272	Q5VWC4;P55036	.;PSMD4_HUMAN	H	272;275	.	ENSP00000357876:R275H	R	+	2	0	PSMD4	149505459	0.972000	0.33761	0.659000	0.29680	0.998000	0.95712	3.889000	0.56212	2.716000	0.92895	0.655000	0.94253	CGC		0.547	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034409.3	0	NM_002810		1:151238835
DCK	1633	broad.mit.edu	37	4	71888175	71888175	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr4:71888175C>T	ENST00000286648.5	+	3	696	c.299C>T	c.(298-300)gCc>gTc	p.A100V	DCK_ENST00000504952.1_Missense_Mutation_p.A100V|DCK_ENST00000504730.1_Missense_Mutation_p.A100V	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	100					deoxyribonucleoside monophosphate biosynthetic process (GO:0009157)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide biosynthetic process (GO:0009165)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|deoxycytidine kinase activity (GO:0004137)|drug binding (GO:0008144)|nucleoside kinase activity (GO:0019206)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Cytarabine(DB00987)|Decitabine(DB01262)|Emtricitabine(DB00879)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Lamivudine(DB00709)|Nelarabine(DB01280)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CAAACATATGCCTGTCTCAGT	0.393																																						ENST00000286648.5		NA																	0				endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9						c.(298-300)gCc>gTc		deoxycytidine kinase	Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)						129.0	127.0	128.0					4																	71888175		2203	4300	6503	SO:0001583	missense	1633				purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity	g.chr4:71888175C>T	M60527	CCDS3548.1	4q13.3-q21.1	2008-02-05			ENSG00000156136	ENSG00000156136	2.7.1.74		2704	protein-coding gene	gene with protein product		125450				8406512	Standard	NM_000788		Approved		uc003hfx.3	P27707	OTTHUMG00000129908	ENST00000286648.5:c.299C>T	4.37:g.71888175C>T	ENSP00000286648:p.Ala100Val	False	False		Somatic	0				DCK_ENST00000504730.1_Missense_Mutation_p.A100V|DCK_ENST00000504952.1_Missense_Mutation_p.A100V	p.A100V	NM_000788.2	NP_000779.1	WXS	Illumina HiSeq	Phase_I	P27707	DCK_HUMAN	Lung(101;0.235)		3	696	+			100					B2R8V6|Q5TZY7|Q6FI11	Missense_Mutation	SNP	ENST00000286648.5	37	c.299C>T	CCDS3548.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.658712	0.88154	.	.	ENSG00000156136	ENST00000286648;ENST00000504730;ENST00000504952	D;D;D	0.93906	-3.31;-3.31;-3.31	5.83	4.97	0.65823	.	0.000000	0.85682	D	0.000000	D	0.93641	0.7969	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.92878	0.6320	9	.	.	.	.	16.0576	0.80816	0.1352:0.8648:0.0:0.0	.	100	P27707	DCK_HUMAN	V	100	ENSP00000286648:A100V;ENSP00000425578:A100V;ENSP00000421508:A100V	.	A	+	2	0	DCK	72107039	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.625000	0.83145	1.404000	0.46819	0.563000	0.77884	GCC		0.393	DCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252159.2	0			4:71888175
TTYH2	94015	broad.mit.edu	37	17	72248384	72248384	+	Silent	SNP	C	C	T	rs139944691		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:72248384C>T	ENST00000269346.4	+	11	1202	c.1128C>T	c.(1126-1128)gaC>gaT	p.D376D	TTYH2_ENST00000441391.2_Silent_p.D55D|TTYH2_ENST00000529107.1_Silent_p.D355D	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	376						chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						ATTATCTGGACGCTCTTGCTG	0.622																																						ENST00000441391.2		NA																	0				breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						c.(163-165)gaC>gaT		tweety family member 2		C	,	0,4406		0,0,2203	135.0	121.0	125.0		1128,165	-0.6	1.0	17	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TTYH2	NM_032646.5,NM_052869.1	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	376/535,55/214	72248384	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72248384C>T		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1128C>T	17.37:g.72248384C>T		False	False		Somatic	0				TTYH2_ENST00000529107.1_Silent_p.D355D|TTYH2_ENST00000269346.4_Silent_p.D376D	p.D55D	NM_052869.1	NP_443101.1	WXS	Illumina HiSeq	Phase_I	Q9BSA4	TTYH2_HUMAN			5	1377	+			376					B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Silent	SNP	ENST00000269346.4	37	c.165C>T	CCDS32717.1																																																																																				0.622	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1	0			17:72248384
CCDC93	54520	broad.mit.edu	37	2	118677965	118677965	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:118677965C>T	ENST00000376300.2	-	24	1987	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.R616H	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	617										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						CTCGTTCTTGCGGCCCTCCTG	0.502																																						ENST00000376300.2		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(1849-1851)cGc>cAc		coiled-coil domain containing 93							94.0	90.0	91.0					2																	118677965		2203	4300	6503	SO:0001583	missense	54520							g.chr2:118677965C>T	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.1850G>A	2.37:g.118677965C>T	ENSP00000365477:p.Arg617His	False	False		Somatic	0				HTR5BP_ENST00000434708.1_RNA|CCDC93_ENST00000319432.5_Missense_Mutation_p.R616H	p.R617H	NM_019044.4	NP_061917.3	WXS	Illumina HiSeq	Phase_I	Q567U6	CCD93_HUMAN			24	1987	-			617					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.1850G>A	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696565	0.88830	.	.	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.65549	-0.16;-0.16	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.73410	0.3583	M	0.61703	1.905	0.48341	D	0.999637	D	0.71674	0.998	P	0.62560	0.904	T	0.74870	-0.3517	10	0.56958	D	0.05	-2.0325	13.8564	0.63529	0.0:1.0:0.0:0.0	.	617	Q567U6	CCD93_HUMAN	H	617;616	ENSP00000365477:R617H;ENSP00000324135:R616H	ENSP00000324135:R616H	R	-	2	0	CCDC93	118394435	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	4.073000	0.57570	2.629000	0.89072	0.591000	0.81541	CGC		0.502	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	0	NM_019044		2:118677965
MMP21	118856	broad.mit.edu	37	10	127461268	127461268	+	Missense_Mutation	SNP	G	G	A	rs146859109		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr10:127461268G>A	ENST00000368808.3	-	3	748	c.749C>T	c.(748-750)gCa>gTa	p.A250V		NM_147191.1	NP_671724.1	Q8N119	MMP21_HUMAN	matrix metallopeptidase 21	250					hematopoietic progenitor cell differentiation (GO:0002244)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)			Marimastat(DB00786)	CCAGGCGTGTGCAAACTCCTG	0.647																																						ENST00000368808.3		NA																	0				endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(748-750)gCa>gTa		matrix metallopeptidase 21							102.0	86.0	92.0					10																	127461268		2203	4300	6503	SO:0001583	missense	118856				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr10:127461268G>A	AF331526	CCDS7647.1	10q26.3	2008-07-28	2005-08-08		ENSG00000154485	ENSG00000154485			14357	protein-coding gene	gene with protein product		608416	"""matrix metalloproteinase 21"""			11255011	Standard	NM_147191		Approved		uc001liu.3	Q8N119	OTTHUMG00000019235	ENST00000368808.3:c.749C>T	10.37:g.127461268G>A	ENSP00000357798:p.Ala250Val	False	False		Somatic	0					p.A250V	NM_147191.1	NP_671724.1	WXS	Illumina HiSeq	Phase_I	Q8N119	MMP21_HUMAN			3	748	-		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	250					Q5VZP9|Q8NG02	Missense_Mutation	SNP	ENST00000368808.3	37	c.749C>T	CCDS7647.1	.	.	.	.	.	.	.	.	.	.	G	33	5.195076	0.94960	.	.	ENSG00000154485	ENST00000368808	T	0.37058	1.22	4.51	4.51	0.55191	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.060133	0.64402	D	0.000004	T	0.70474	0.3228	H	0.95294	3.65	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.80555	-0.1330	10	0.87932	D	0	-15.8357	14.7847	0.69793	0.0:0.0:1.0:0.0	.	250	Q8N119	MMP21_HUMAN	V	250	ENSP00000357798:A250V	ENSP00000357798:A250V	A	-	2	0	MMP21	127451258	1.000000	0.71417	0.942000	0.38095	0.896000	0.52359	7.729000	0.84864	2.350000	0.79820	0.561000	0.74099	GCA		0.647	MMP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050928.1	0			10:127461268
TRAV12-1	28674	broad.mit.edu	37	14	22309830	22309830	+	RNA	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr14:22309830G>A	ENST00000390433.1	+	0	214									T cell receptor alpha variable 12-1																		GCTGATGTCCGTATACTCCAG	0.458																																						ENST00000390433.1		NA																	0					NA															99.0	95.0	97.0					14																	22309830		1949	4144	6093			0							g.chr14:22309830G>A	AE000659		14q11.2	2012-02-07			ENSG00000211785	ENSG00000211785		"""T cell receptors / TRA locus"""	12105	other	T cell receptor gene						8188290	Standard	NG_001332		Approved		uc001wbx.2		OTTHUMG00000168990		14.37:g.22309830G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	214	+			NA						RNA	SNP	ENST00000390433.1	37																																																																																						0.458	TRAV12-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401888.1	0	NG_001332		14:22309830
CEP85	64793	broad.mit.edu	37	1	26582314	26582314	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:26582314G>A	ENST00000252992.4	+	4	992	c.861G>A	c.(859-861)cgG>cgA	p.R287R	CEP85_ENST00000451429.2_Silent_p.R236R	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	287						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						GCACTTGTCGGCAGCAGCTGG	0.502																																						ENST00000252992.4		NA																	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						c.(859-861)cgG>cgA		centrosomal protein 85kDa							69.0	71.0	71.0					1																	26582314		2203	4300	6503	SO:0001819	synonymous_variant	64793					centrosome|nucleolus|spindle pole		g.chr1:26582314G>A	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.861G>A	1.37:g.26582314G>A		False	False		Somatic	0				CEP85_ENST00000451429.2_Silent_p.R236R	p.R287R	NM_022778.2	NP_073615.2	WXS	Illumina HiSeq	Phase_I	Q6P2H3	CEP85_HUMAN			4	992	+			287					B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Silent	SNP	ENST00000252992.4	37	c.861G>A	CCDS277.1																																																																																				0.502	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	0	NM_022778		1:26582314
LOC644669	644669	broad.mit.edu	37	18	15323274	15323274	+	RNA	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr18:15323274C>A	ENST00000455308.2	-	0	574				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						TTATCAACTGCAATTGCATTT	0.308																																						ENST00000455308.2		NA																	0					NA																																														0							g.chr18:15323274C>A																													18.37:g.15323274C>A		False	False		Somatic	0						NR_027417.1		WXS	Illumina HiSeq	Phase_I					0	574	-			NA						RNA	SNP	ENST00000455308.2	37																																																																																						0.308	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1	0			18:15323274
CHDH	55349	broad.mit.edu	37	3	53852140	53852140	+	Silent	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:53852140C>A	ENST00000315251.6	-	9	1886	c.1449G>T	c.(1447-1449)ggG>ggT	p.G483G		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	483					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GGAGCTCTTTCCCTCGGAACG	0.517																																						ENST00000315251.5		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17						c.(1447-1449)ggG>ggT		choline dehydrogenase	Choline(DB00122)						71.0	68.0	69.0					3																	53852140		2203	4300	6503	SO:0001819	synonymous_variant	55349				alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding	g.chr3:53852140C>A	AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1449G>T	3.37:g.53852140C>A		True	False		Somatic	0					p.G483G	NM_018397.4	NP_060867.2	WXS	Illumina HiSeq	Phase_I	Q8NE62	CHDH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	9	1886	-		Hepatocellular(537;0.152)	483					Q9NY17	Silent	SNP	ENST00000315251.6	37	c.1449G>T	CCDS2873.1																																																																																				0.517	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	0	NM_018397		3:53852140
ICE2	79664	broad.mit.edu	37	15	60720749	60720749	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr15:60720749G>A	ENST00000261520.4	-	15	2933	c.2699C>T	c.(2698-2700)tCc>tTc	p.S900F	NARG2_ENST00000439632.1_Missense_Mutation_p.S763F	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TGAGAGACTGGAAGGTACACC	0.423																																						ENST00000261520.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						c.(2698-2700)tCc>tTc		NMDA receptor regulated 2							90.0	87.0	88.0					15																	60720749		2203	4300	6503	SO:0001583	missense	79664					nucleus		g.chr15:60720749G>A																												ENST00000261520.4:c.2699C>T	15.37:g.60720749G>A	ENSP00000261520:p.Ser900Phe	False	False		Somatic	0				NARG2_ENST00000439632.1_Missense_Mutation_p.S763F	p.S900F	NM_024611.4	NP_078887.2	WXS	Illumina HiSeq	Phase_I	Q659A1	NARG2_HUMAN			15	2933	-			900						Missense_Mutation	SNP	ENST00000261520.4	37	c.2699C>T	CCDS10176.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467917	0.84533	.	.	ENSG00000128915	ENST00000261520;ENST00000439632	.	.	.	5.96	5.96	0.96718	NMDA receptor-regulated gene protein 2 (1);	0.305688	0.36374	N	0.002621	T	0.67757	0.2927	L	0.44542	1.39	0.34937	D	0.749928	D	0.54397	0.966	P	0.58331	0.837	T	0.74945	-0.3491	9	0.87932	D	0	-3.8481	18.5997	0.91244	0.0:0.0:1.0:0.0	.	900	Q659A1	NARG2_HUMAN	F	900;763	.	ENSP00000261520:S900F	S	-	2	0	NARG2	58508041	1.000000	0.71417	0.998000	0.56505	0.770000	0.43624	6.152000	0.71812	2.831000	0.97527	0.650000	0.86243	TCC		0.423	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256136.1	0			15:60720749
UBN2	254048	broad.mit.edu	37	7	138969039	138969039	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:138969039C>T	ENST00000473989.3	+	15	3388	c.3388C>T	c.(3388-3390)Ccc>Tcc	p.P1130S	UBN2_ENST00000288561.8_Missense_Mutation_p.P1047S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1130	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						GAATTTATTGCCCTCTAGTCG	0.493																																						ENST00000288561.8		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						c.(3139-3141)Ccc>Tcc		ubinuclein 2							72.0	74.0	74.0					7																	138969039		1980	4159	6139	SO:0001583	missense	254048							g.chr7:138969039C>T	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3388C>T	7.37:g.138969039C>T	ENSP00000418648:p.Pro1130Ser	True	False		Somatic	0				UBN2_ENST00000473989.2_Missense_Mutation_p.P1130S	p.P1047S	NM_173569.3	NP_775840.3	WXS	Illumina HiSeq	Phase_I	Q6ZU65	UBN2_HUMAN			15	3388	+			1130			Ser-rich.		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3139C>T	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	12.74	2.027987	0.35797	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.36157	1.38;1.27	5.51	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	L	0.36672	1.1	0.41266	D	0.986812	P	0.38677	0.642	B	0.40982	0.345	T	0.06075	-1.0847	10	0.27785	T	0.31	-0.8259	12.5763	0.56365	0.0:0.8615:0.0:0.1385	.	1130	Q6ZU65	UBN2_HUMAN	S	1130;1047	ENSP00000418648:P1130S;ENSP00000288561:P1047S	ENSP00000288561:P1047S	P	+	1	0	UBN2	138619579	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	2.045000	0.41250	1.473000	0.48159	-0.259000	0.10710	CCC		0.493	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	0	NM_173569		7:138969039
PCNXL2	80003	broad.mit.edu	37	1	233152748	233152748	+	Silent	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:233152748C>T	ENST00000258229.9	-	27	4992	c.4758G>A	c.(4756-4758)ccG>ccA	p.P1586P	PCNXL2_ENST00000344698.2_Silent_p.P238P	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1586						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCTGGAGACACGGGACGTAGT	0.478																																						ENST00000258229.8		NA																	0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(4756-4758)ccG>ccA		pecanex-like 2 (Drosophila)							133.0	129.0	130.0					1																	233152748		1989	4163	6152	SO:0001819	synonymous_variant	80003					integral to membrane		g.chr1:233152748C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.4758G>A	1.37:g.233152748C>T		True	False		Somatic	0				PCNXL2_ENST00000344698.2_Silent_p.P238P	p.P1586P	NM_014801.3	NP_055616.3	WXS	Illumina HiSeq	Phase_I	A6NKB5	PCX2_HUMAN			27	4992	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1586					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Silent	SNP	ENST00000258229.9	37	c.4758G>A	CCDS44335.1																																																																																				0.478	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	0	NM_014801		1:233152748
GOLGA1	2800	broad.mit.edu	37	9	127650651	127650651	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:127650651G>A	ENST00000373555.4	-	19	2119	c.1786C>T	c.(1786-1788)Cct>Tct	p.P596S	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	596					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TGGAACACAGGGTCCTGCATG	0.557																																						ENST00000373555.4		NA																	0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1786-1788)Cct>Tct		golgin A1							185.0	149.0	161.0					9																	127650651		2203	4300	6503	SO:0001583	missense	2800					Golgi cisterna membrane		g.chr9:127650651G>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1786C>T	9.37:g.127650651G>A	ENSP00000362656:p.Pro596Ser	True	False		Somatic	0					p.P596S	NM_002077.3	NP_002068.1	WXS	Illumina HiSeq	Phase_I	Q92805	GOGA1_HUMAN			19	2119	-			596					Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	c.1786C>T	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	5.582	0.292267	0.10567	.	.	ENSG00000136935	ENST00000373555	T	0.20598	2.06	4.94	0.655	0.17839	.	1.145650	0.06646	N	0.761924	T	0.09774	0.0240	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.37619	-0.9698	10	0.18710	T	0.47	0.154	5.4401	0.16504	0.2873:0.203:0.5096:0.0	.	596	Q92805	GOGA1_HUMAN	S	596	ENSP00000362656:P596S	ENSP00000362656:P596S	P	-	1	0	GOLGA1	126690472	0.003000	0.15002	0.002000	0.10522	0.519000	0.34347	0.484000	0.22308	0.214000	0.20742	0.289000	0.19496	CCT		0.557	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	0	NM_002077		9:127650651
PIAS2	9063	broad.mit.edu	37	18	44435568	44435568	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr18:44435568G>A	ENST00000585916.1	-	4	594	c.595C>T	c.(595-597)Cca>Tca	p.P199S	PIAS2_ENST00000324794.7_Missense_Mutation_p.P199S|PIAS2_ENST00000545673.1_5'UTR	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	199	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CTACCACCTGGCAAAAAATCC	0.363																																						ENST00000585916.1		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						c.(595-597)Cca>Tca		protein inhibitor of activated STAT, 2							63.0	64.0	64.0					18																	44435568		2203	4300	6503	SO:0001583	missense	9063				androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding	g.chr18:44435568G>A	AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.595C>T	18.37:g.44435568G>A	ENSP00000465676:p.Pro199Ser	False	False		Somatic	0				PIAS2_ENST00000545673.1_5'UTR|PIAS2_ENST00000324794.7_Missense_Mutation_p.P199S	p.P199S	NM_004671.3	NP_004662.2	WXS	Illumina HiSeq	Phase_I	O75928	PIAS2_HUMAN			4	594	-			199			PINIT.		O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	ENST00000585916.1	37	c.595C>T	CCDS32824.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.686884	0.48097	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000398651;ENST00000324794	T	0.32515	1.45	5.45	5.45	0.79879	PINIT domain (1);	0.000000	0.85682	D	0.000000	T	0.29061	0.0722	N	0.25245	0.725	0.80722	D	1	B;B;B;P	0.37500	0.24;0.106;0.357;0.597	B;B;B;B	0.42882	0.28;0.377;0.32;0.401	T	0.02603	-1.1135	10	0.22109	T	0.4	-2.7415	19.2762	0.94032	0.0:0.0:1.0:0.0	.	203;199;199;199	O75928-3;Q2TA77;O75928-2;O75928	.;.;.;PIAS2_HUMAN	S	199;199;195;199	ENSP00000317163:P199S	ENSP00000262161:P199S	P	-	1	0	PIAS2	42689566	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.217000	0.95160	2.553000	0.86117	0.591000	0.81541	CCA		0.363	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445656.2	0	NM_004671		18:44435568
PCYT1A	5130	broad.mit.edu	37	3	195966549	195966549	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:195966549C>T	ENST00000292823.2	-	9	938	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	PCYT1A_ENST00000431016.1_Missense_Mutation_p.V256M|PCYT1A_ENST00000419333.1_Missense_Mutation_p.V256M	NM_005017.2	NP_005008.2	P49585	PCY1A_HUMAN	phosphate cytidylyltransferase 1, choline, alpha	256	3 X 11 AA approximate tandem repeats.|Amphipathic. {ECO:0000255}.				CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|glycogen granule (GO:0042587)	choline-phosphate cytidylyltransferase activity (GO:0004105)|lipid binding (GO:0008289)			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)|Lamivudine(DB00709)	TTTTCCTCCACATCTTTCACT	0.383																																						ENST00000292823.2		NA																	0				cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18						c.(766-768)Gtg>Atg		phosphate cytidylyltransferase 1, choline, alpha	Choline(DB00122)						213.0	207.0	209.0					3																	195966549		2203	4300	6503	SO:0001583	missense	5130					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity	g.chr3:195966549C>T	L28957	CCDS3315.1	3q29	2010-07-19	2005-09-05		ENSG00000161217	ENSG00000161217	2.7.7.15		8754	protein-coding gene	gene with protein product	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	123695	"""phosphate cytidylyltransferase 1, choline, alpha isoform"""	PCYT1		7918629	Standard	NM_005017		Approved	CT, CTPCT	uc003fwg.3	P49585	OTTHUMG00000155670	ENST00000292823.2:c.766G>A	3.37:g.195966549C>T	ENSP00000292823:p.Val256Met	False	False		Somatic	0				PCYT1A_ENST00000431016.1_Missense_Mutation_p.V256M|PCYT1A_ENST00000419333.1_Missense_Mutation_p.V256M	p.V256M	NM_005017.2	NP_005008.2	WXS	Illumina HiSeq	Phase_I	P49585	PCY1A_HUMAN	Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	9	938	-	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		256			3 X 11 AA approximate tandem repeats.|Amphipathic (Potential).		A9LYK9|D3DXB1|Q86Y88	Missense_Mutation	SNP	ENST00000292823.2	37	c.766G>A	CCDS3315.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.187860	0.57909	.	.	ENSG00000161217	ENST00000419333;ENST00000292823;ENST00000416798;ENST00000431016;ENST00000411591	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.71500	0.3347	M	0.65975	2.015	0.80722	D	1	D	0.54772	0.968	P	0.50231	0.635	T	0.72033	-0.4412	9	0.52906	T	0.07	-30.0716	19.545	0.95291	0.0:1.0:0.0:0.0	.	256	P49585	PCY1A_HUMAN	M	256;256;217;256;256	.	ENSP00000292823:V256M	V	-	1	0	PCYT1A	197450946	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	7.487000	0.81328	2.861000	0.98227	0.655000	0.94253	GTG		0.383	PCYT1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341147.1	0	NM_005017		3:195966549
STAB2	55576	broad.mit.edu	37	12	104048365	104048365	+	Silent	SNP	C	C	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr12:104048365C>A	ENST00000388887.2	+	13	1644	c.1440C>A	c.(1438-1440)ggC>ggA	p.G480G	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCCATGGAGGCAAAAAGAAGG	0.398																																						ENST00000388887.2		NA																	0				NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						c.(1438-1440)ggC>ggA		stabilin 2							66.0	65.0	65.0					12																	104048365		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104048365C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.1440C>A	12.37:g.104048365C>A		True	False		Somatic	0					p.G480G	NM_017564.9	NP_060034.9	WXS	Illumina HiSeq	Phase_I	Q8WWQ8	STAB2_HUMAN			13	1644	+			480			FAS1 1.			Silent	SNP	ENST00000388887.2	37	c.1440C>A	CCDS31888.1																																																																																				0.398	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1	0			12:104048365
FAM107A	11170	broad.mit.edu	37	3	58555477	58555477	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:58555477G>A	ENST00000394481.1	-	3	669	c.111C>T	c.(109-111)ccC>ccT	p.P37P	FAM107A_ENST00000464064.1_Silent_p.P37P|FAM107A_ENST00000447756.2_Silent_p.P65P|RP11-475O23.2_ENST00000472513.1_RNA|FAM107A_ENST00000474531.1_Silent_p.P68P|FAM107A_ENST00000360997.2_Silent_p.P37P	NM_001282713.1|NM_007177.2	NP_001269642.1|NP_009108.1	O95990	F107A_HUMAN	family with sequence similarity 107, member A	37					regulation of cell growth (GO:0001558)	neuron projection (GO:0043005)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		AGGCCTTCACGGGGTTCAGCA	0.622																																						ENST00000394481.1		NA																	0				breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(109-111)ccC>ccT		family with sequence similarity 107, member A							66.0	69.0	68.0					3																	58555477		2203	4300	6503	SO:0001819	synonymous_variant	11170				regulation of cell growth	nucleus	protein binding	g.chr3:58555477G>A	AF089854	CCDS2892.1, CCDS63672.1, CCDS63673.1	3p14.2	2006-02-03			ENSG00000168309	ENSG00000168309			30827	protein-coding gene	gene with protein product		608295				10564580, 10702698	Standard	XM_005264835		Approved	DRR1, TU3A	uc003dkn.3	O95990	OTTHUMG00000159159	ENST00000394481.1:c.111C>T	3.37:g.58555477G>A		True	False		Somatic	0				FAM107A_ENST00000360997.2_Silent_p.P37P|FAM107A_ENST00000474531.1_Silent_p.P68P|FAM107A_ENST00000447756.2_Silent_p.P65P|FAM107A_ENST00000464064.1_Silent_p.P37P	p.P37P	NM_007177.2	NP_009108.1	WXS	Illumina HiSeq	Phase_I	O95990	F107A_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)	3	669	-			37					B3KNQ4|B7ZAY5|J3KR61|Q96NH4	Silent	SNP	ENST00000394481.1	37	c.111C>T	CCDS2892.1																																																																																				0.622	FAM107A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353585.1	0	NM_007177		3:58555477
PSPH	5723	broad.mit.edu	37	7	56085002	56085002	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:56085002C>T	ENST00000395471.3	-	6	1151	c.346G>A	c.(346-348)Gta>Ata	p.V116I	PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	116					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.V116I(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACATGCTCTACAATACTCCTA	0.393																																						ENST00000395471.3		NA																	1	Substitution - Missense(1)	p.V116I(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.(346-348)Gta>Ata		phosphoserine phosphatase							87.0	75.0	79.0					7																	56085002		2203	4300	6503	SO:0001583	missense	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56085002C>T	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.346G>A	7.37:g.56085002C>T	ENSP00000378854:p.Val116Ile	False	False		Somatic	0				PSPH_ENST00000275605.3_Missense_Mutation_p.V116I|PSPH_ENST00000459834.1_Intron	p.V116I			WXS	Illumina HiSeq	Phase_I	P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	1151	-	Breast(14;0.214)		116					B2RCR5|Q7Z3S5	Missense_Mutation	SNP	ENST00000395471.3	37	c.346G>A	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432510	0.25813	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.81908	-1.55;-1.55;-1.55	4.85	4.85	0.62838	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	N	0.05124	-0.11	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.18263	0.021;0.021	T	0.62992	-0.6736	10	0.02654	T	1	-16.2549	17.1115	0.86676	0.0:1.0:0.0:0.0	.	116;116	Q53EY1;P78330	.;SERB_HUMAN	I	116	ENSP00000275605:V116I;ENSP00000378854:V116I;ENSP00000398653:V116I	ENSP00000275605:V116I	V	-	1	0	PSPH	56052496	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.551000	0.82182	2.297000	0.77311	0.579000	0.79373	GTA		0.393	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	0	NM_004577		7:56085002
PSD4	23550	broad.mit.edu	37	2	113940171	113940171	+	Silent	SNP	C	C	T	rs139939908		TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr2:113940171C>T	ENST00000245796.6	+	2	333	c.138C>T	c.(136-138)ttC>ttT	p.F46F	PSD4_ENST00000441564.3_Silent_p.F46F|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	46					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGGAGCCTTTCGAGGAGCAAA	0.602																																						ENST00000245796.6		NA																	0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(136-138)ttC>ttT		pleckstrin and Sec7 domain containing 4		C		1,4405	2.1+/-5.4	0,1,2202	88.0	84.0	85.0		138	-3.2	0.0	2	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	PSD4	NM_012455.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		46/1057	113940171	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940171C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.138C>T	2.37:g.113940171C>T		True	False		Somatic	0				PSD4_ENST00000441564.2_Silent_p.F46F|PSD4_ENST00000465917.1_3'UTR	p.F46F	NM_012455.2	NP_036587.2	WXS	Illumina HiSeq	Phase_I	Q8NDX1	PSD4_HUMAN			2	333	+			46					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.138C>T	CCDS33276.1																																																																																				0.602	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	0	NM_012455		2:113940171
GATAD2B	57459	broad.mit.edu	37	1	153800794	153800794	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr1:153800794G>A	ENST00000368655.4	-	2	273	c.30C>T	c.(28-30)cgC>cgT	p.R10R		NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B	10					ATP-dependent chromatin remodeling (GO:0043044)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACAGATTCAAGCGAAGAGCAT	0.433																																						ENST00000368655.4		NA																	0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38						c.(28-30)cgC>cgT		GATA zinc finger domain containing 2B							81.0	82.0	81.0					1																	153800794		2203	4300	6503	SO:0001819	synonymous_variant	57459					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:153800794G>A	AF411836	CCDS1054.1	1q21.3	2013-01-25			ENSG00000143614	ENSG00000143614		"""GATA zinc finger domain containing"""	30778	protein-coding gene	gene with protein product	"""transcription repressor p66 beta component of the MeCP1 complex"""	614998				10574461, 11756549	Standard	NM_020699		Approved	P66beta	uc001fdb.4	Q8WXI9	OTTHUMG00000037162	ENST00000368655.4:c.30C>T	1.37:g.153800794G>A		False	False		Somatic	0					p.R10R	NM_020699.2	NP_065750.1	WXS	Illumina HiSeq	Phase_I	Q8WXI9	P66B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		2	273	-	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		10					D3DUZ2|Q5VUR2|Q7LG68|Q9ULS0	Silent	SNP	ENST00000368655.4	37	c.30C>T	CCDS1054.1																																																																																				0.433	GATAD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090305.1	0	NM_020699		1:153800794
PFAS	5198	broad.mit.edu	37	17	8172434	8172434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr17:8172434G>A	ENST00000314666.6	+	28	4002	c.3869G>A	c.(3868-3870)cGc>cAc	p.R1290H	PFAS_ENST00000545834.1_Missense_Mutation_p.R866H	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	1290	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process (GO:0006189)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|phosphoribosylformylglycinamidine synthase activity (GO:0004642)			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamine(DB00130)	TGTGATGGCCGCCACCTGGCT	0.642																																						ENST00000314666.6		NA																	0				central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35						c.(3868-3870)cGc>cAc		phosphoribosylformylglycinamidine synthase	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						48.0	50.0	49.0					17																	8172434		2203	4300	6503	SO:0001583	missense	5198				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding	g.chr17:8172434G>A	AB002359	CCDS11136.1	17p13.1	2008-07-31	2008-07-31		ENSG00000178921	ENSG00000178921	6.3.5.3		8863	protein-coding gene	gene with protein product	"""FGAR amidotransferase"""	602133				8110788	Standard	NM_012393		Approved	PURL, FGARAT, KIAA0361	uc002gkr.3	O15067	OTTHUMG00000108188	ENST00000314666.6:c.3869G>A	17.37:g.8172434G>A	ENSP00000313490:p.Arg1290His	False	False		Somatic	0				PFAS_ENST00000545834.1_Missense_Mutation_p.R866H	p.R1290H	NM_012393.2	NP_036525.1	WXS	Illumina HiSeq	Phase_I	O15067	PUR4_HUMAN			28	4002	+			1290			Glutamine amidotransferase type-1.		A6H8V8	Missense_Mutation	SNP	ENST00000314666.6	37	c.3869G>A	CCDS11136.1	.	.	.	.	.	.	.	.	.	.	G	33	5.261601	0.95368	.	.	ENSG00000178921	ENST00000545834;ENST00000314666;ENST00000546020	T;T	0.51325	0.71;1.42	5.46	5.46	0.80206	Glutamine amidotransferase type 1 (1);	0.000000	0.85682	D	0.000000	T	0.76456	0.3990	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82561	-0.0396	10	0.87932	D	0	-18.6721	16.808	0.85710	0.0:0.0:1.0:0.0	.	1290	O15067	PUR4_HUMAN	H	866;1290;699	ENSP00000441706:R866H;ENSP00000313490:R1290H	ENSP00000313490:R1290H	R	+	2	0	PFAS	8113159	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.142000	0.94618	2.544000	0.85801	0.655000	0.94253	CGC		0.642	PFAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226994.2	0			17:8172434
INMT	11185	broad.mit.edu	37	7	30795239	30795239	+	Silent	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr7:30795239G>A	ENST00000013222.5	+	3	580	c.564G>A	c.(562-564)aaG>aaA	p.K188K	INMT_ENST00000409539.1_Silent_p.K187K|INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	188					amine metabolic process (GO:0009308)|methylation (GO:0032259)|response to toxic substance (GO:0009636)	cytosol (GO:0005829)	amine N-methyltransferase activity (GO:0030748)|thioether S-methyltransferase activity (GO:0004790)			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CACTGCTCAAGCCGGGTGGCC	0.627																																						ENST00000013222.5		NA																	0				kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						c.(562-564)aaG>aaA		indolethylamine N-methyltransferase							115.0	98.0	104.0					7																	30795239		2203	4300	6503	SO:0001819	synonymous_variant	11185					cytoplasm	amine N-methyltransferase activity	g.chr7:30795239G>A		CCDS5430.1, CCDS56479.1	7p14.3	2011-08-30			ENSG00000241644	ENSG00000241644	2.1.1.49		6069	protein-coding gene	gene with protein product		604854				10552930	Standard	NM_001199219		Approved		uc003tbs.1	O95050	OTTHUMG00000167163	ENST00000013222.5:c.564G>A	7.37:g.30795239G>A		False	False		Somatic	0				INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Silent_p.K187K|INMT_ENST00000484180.1_3'UTR	p.K188K	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	WXS	Illumina HiSeq	Phase_I	O95050	INMT_HUMAN			3	580	+			188					B8ZZ69|Q3KP49|Q9P1Y2|Q9UBY4|Q9UHQ0	Silent	SNP	ENST00000013222.5	37	c.564G>A	CCDS5430.1																																																																																				0.627	INMT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214993.3	0	NM_006774		7:30795239
XPO4	64328	broad.mit.edu	37	13	21375026	21375026	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr13:21375026A>G	ENST00000255305.6	-	14	1992	c.1921T>C	c.(1921-1923)Ttt>Ctt	p.F641L	XPO4_ENST00000400602.2_Missense_Mutation_p.F641L			Q9C0E2	XPO4_HUMAN	exportin 4	641					positive regulation of protein export from nucleus (GO:0046827)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		CGTTTTAAAAACCAAACAATA	0.378																																						ENST00000400602.2		NA																	0				breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41						c.(1921-1923)Ttt>Ctt		exportin 4							166.0	155.0	159.0					13																	21375026		1821	4086	5907	SO:0001583	missense	64328				protein transport	cytoplasm|nucleus	protein binding	g.chr13:21375026A>G	AB051508	CCDS41872.1	13q11	2011-04-13			ENSG00000132953	ENSG00000132953		"""Exportins"""	17796	protein-coding gene	gene with protein product		611449				11214970, 10944119	Standard	NM_022459		Approved	FLJ13046, KIAA1721	uc001unq.4	Q9C0E2	OTTHUMG00000016528	ENST00000255305.6:c.1921T>C	13.37:g.21375026A>G	ENSP00000255305:p.Phe641Leu	True	False		Somatic	0				XPO4_ENST00000255305.6_Missense_Mutation_p.F641L	p.F641L	NM_022459.4	NP_071904.4	WXS	Illumina HiSeq	Phase_I	Q9C0E2	XPO4_HUMAN		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)	14	1956	-		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	641					Q5VUZ5|Q8N3V6|Q9H934	Missense_Mutation	SNP	ENST00000255305.6	37	c.1921T>C	CCDS41872.1	.	.	.	.	.	.	.	.	.	.	A	31	5.062550	0.93898	.	.	ENSG00000132953	ENST00000400602;ENST00000456108;ENST00000255305	T;T	0.63744	-0.06;-0.06	5.65	4.46	0.54185	Armadillo-type fold (1);	0.043532	0.85682	D	0.000000	T	0.72755	0.3500	M	0.68593	2.085	0.80722	D	1	P	0.52316	0.952	P	0.57911	0.829	T	0.74572	-0.3621	10	0.62326	D	0.03	-16.6373	12.8954	0.58095	0.8641:0.1359:0.0:0.0	.	641	Q9C0E2	XPO4_HUMAN	L	641;511;641	ENSP00000383444:F641L;ENSP00000255305:F641L	ENSP00000255305:F641L	F	-	1	0	XPO4	20273026	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.855000	0.92236	0.954000	0.37851	-0.316000	0.08728	TTT		0.378	XPO4-001	KNOWN	non_canonical_conserved|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044096.1	0	NM_022459		13:21375026
BRD9	65980	broad.mit.edu	37	5	889786	889786	+	Intron	SNP	T	T	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr5:889786T>A	ENST00000467963.1	-	4	567				BRD9_ENST00000323510.4_Missense_Mutation_p.N10I|BRD9_ENST00000483173.1_Intron|TRIP13_ENST00000166345.3_5'Flank|BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000388890.4_Missense_Mutation_p.N10I|BRD9_ENST00000435709.2_Missense_Mutation_p.N10I	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			GAAAAAAAAATTGAATACAAG	0.448																																						ENST00000323510.4		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(28-30)aAt>aTt		bromodomain containing 9							88.0	89.0	88.0					5																	889786		2203	4300	6503	SO:0001627	intron_variant	65980						nucleic acid binding	g.chr5:889786T>A	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.401-24A>T	5.37:g.889786T>A		True	False		Somatic	0				BRD9_ENST00000483173.1_Intron|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000435709.2_Missense_Mutation_p.N10I|BRD9_ENST00000388890.4_Missense_Mutation_p.N10I	p.N10I			WXS	Illumina HiSeq	Phase_I	Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		1	28	-			0					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	ENST00000467963.1	37	c.29A>T	CCDS34127.2	.	.	.	.	.	.	.	.	.	.	T	11.79	1.744156	0.30865	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000435709;ENST00000489093	T;T;T;T	0.35605	1.53;1.53;1.3;1.33	4.32	-8.65	0.00870	.	1.608980	0.03781	N	0.261414	T	0.21550	0.0519	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18209	-1.0344	9	0.87932	D	0	.	1.3174	0.02110	0.3499:0.2089:0.2817:0.1595	.	10;10	Q9H8M2-1;Q9H8M2-3	.;.	I	10	ENSP00000323557:N10I;ENSP00000373542:N10I;ENSP00000402984:N10I;ENSP00000420722:N10I	ENSP00000323557:N10I	N	-	2	0	BRD9	942786	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.385000	0.01062	-3.868000	0.00097	-0.490000	0.04691	AAT		0.448	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	0	NM_023924		5:889786
DCAF8L1	139425	broad.mit.edu	37	X	27998523	27998523	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chrX:27998523A>C	ENST00000441525.1	-	1	1043	c.929T>G	c.(928-930)gTt>gGt	p.V310G		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	310										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GGTGAACACAACGGCATCTTC	0.478																																						ENST00000441525.1		NA																	0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						c.(928-930)gTt>gGt		DDB1 and CUL4 associated factor 8-like 1							85.0	74.0	78.0					X																	27998523		2202	4300	6502	SO:0001583	missense	139425							g.chrX:27998523A>C		CCDS35222.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17	ENSG00000226372	ENSG00000226372		"""WD repeat domain containing"""	31810	protein-coding gene	gene with protein product			"""WD repeat domain 42B"""	WDR42B			Standard	NM_001017930		Approved		uc004dbx.1	A6NGE4	OTTHUMG00000021312	ENST00000441525.1:c.929T>G	X.37:g.27998523A>C	ENSP00000405222:p.Val310Gly	False	False		Somatic	0					p.V310G	NM_001017930.1	NP_001017930.1	WXS	Illumina HiSeq	Phase_I	A6NGE4	DC8L1_HUMAN			1	1043	-			310					B3KXX1	Missense_Mutation	SNP	ENST00000441525.1	37	c.929T>G	CCDS35222.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.975494	0.53720	.	.	ENSG00000226372	ENST00000441525	D	0.81499	-1.5	0.842	0.842	0.18927	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.80166	0.4573	M	0.85197	2.74	0.80722	D	1	P	0.37548	0.599	B	0.41412	0.356	T	0.76348	-0.2992	10	0.51188	T	0.08	-11.5024	5.6395	0.17557	0.9999:0.0:1.0E-4:0.0	.	310	A6NGE4	DC8L1_HUMAN	G	310	ENSP00000405222:V310G	ENSP00000405222:V310G	V	-	2	0	DCAF8L1	27908444	0.997000	0.39634	0.313000	0.25210	0.401000	0.30781	5.370000	0.66144	0.571000	0.29365	0.235000	0.17854	GTT		0.478	DCAF8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056150.2	0	XM_066690		X:27998523
GOLGA1	2800	broad.mit.edu	37	9	127650555	127650555	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr9:127650555G>A	ENST00000373555.4	-	19	2215	c.1882C>T	c.(1882-1884)Cag>Tag	p.Q628*	RNU4-82P_ENST00000362443.1_RNA	NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	628					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AGAAGTTGCTGCTCCAAGTCC	0.517																																						ENST00000373555.4		NA																	0				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						c.(1882-1884)Cag>Tag		golgin A1							338.0	288.0	305.0					9																	127650555		2203	4300	6503	SO:0001587	stop_gained	2800					Golgi cisterna membrane		g.chr9:127650555G>A	U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1882C>T	9.37:g.127650555G>A	ENSP00000362656:p.Gln628*	False	False		Somatic	0					p.Q628*	NM_002077.3	NP_002068.1	WXS	Illumina HiSeq	Phase_I	Q92805	GOGA1_HUMAN			19	2215	-			628					Q5T164|Q8IYZ9	Nonsense_Mutation	SNP	ENST00000373555.4	37	c.1882C>T	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	G	41	8.756512	0.98941	.	.	ENSG00000136935	ENST00000373555	.	.	.	5.06	5.06	0.68205	.	0.000000	0.44285	D	0.000466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-8.953	17.7842	0.88532	0.0:0.0:1.0:0.0	.	.	.	.	X	628	.	ENSP00000362656:Q628X	Q	-	1	0	GOLGA1	126690376	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	7.487000	0.81328	2.523000	0.85059	0.442000	0.29010	CAG		0.517	GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	0	NM_002077		9:127650555
ZDHHC14	79683	broad.mit.edu	37	6	158049518	158049518	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr6:158049518C>T	ENST00000359775.5	+	4	1592	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Splice_Site_p.R235C			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	235					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CGTCATTCTTCGTAAGTATGC	0.328																																						ENST00000359775.5		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17						c.e4+1		zinc finger, DHHC-type containing 14							145.0	155.0	152.0					6																	158049518		2203	4296	6499	SO:0001630	splice_region_variant	79683					integral to membrane	acyltransferase activity|zinc ion binding	g.chr6:158049518C>T	AF542388	CCDS5252.1, CCDS47510.1	6q25.3	2008-05-02			ENSG00000175048	ENSG00000175048		"""Zinc fingers, DHHC-type"""	20341	protein-coding gene	gene with protein product							Standard	NM_024630		Approved	FLJ20984, NEW1CP	uc003qqt.3	Q8IZN3	OTTHUMG00000015896	ENST00000359775.5:c.703+1C>T	6.37:g.158049518C>T		False	False		Somatic	0				ZDHHC14_ENST00000414563.2_Splice_Site_p.R235_splice|ZDHHC14_ENST00000341375.8_3'UTR	p.R235_splice			WXS	Illumina HiSeq	Phase_I	Q8IZN3	ZDH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)	4	1592	+		Breast(66;0.00586)|Ovarian(120;0.123)	235					A6NDB7|Q5JS07|Q5JS08|Q6PHS4|Q8IZN2|Q9H7F1	Splice_Site	SNP	ENST00000359775.5	37	c.703_splice	CCDS5252.1	.	.	.	.	.	.	.	.	.	.	C	15.58	2.874414	0.51695	.	.	ENSG00000175048	ENST00000359775;ENST00000414563;ENST00000538483	T;T	0.24723	1.84;1.84	5.56	5.56	0.83823	.	0.470158	0.24506	N	0.037940	T	0.15955	0.0384	L	0.41824	1.3	0.80722	D	1	B;B;B	0.28419	0.211;0.211;0.111	B;B;B	0.31547	0.086;0.132;0.03	T	0.02933	-1.1092	10	0.35671	T	0.21	-6.7738	19.5349	0.95247	0.0:1.0:0.0:0.0	.	239;235;235	A4FVA9;Q8IZN3;Q8IZN3-2	.;ZDH14_HUMAN;.	C	235;235;239	ENSP00000352821:R235C;ENSP00000410713:R235C	ENSP00000352821:R235C	R	+	1	0	ZDHHC14	157969506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.474000	0.53129	2.618000	0.88619	0.561000	0.74099	CGT		0.328	ZDHHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042841.2	0	NM_153746	Missense_Mutation	6:158049518
MGLL	11343	broad.mit.edu	37	3	127413957	127413957	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr3:127413957G>A	ENST00000434178.2	-	7	1543	c.647C>T	c.(646-648)gCc>gTc	p.A216V	MGLL_ENST00000265052.5_Missense_Mutation_p.A226V|MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000398104.1_Missense_Mutation_p.A216V|MGLL_ENST00000398101.3_Missense_Mutation_p.A190V|MGLL_ENST00000453507.2_Missense_Mutation_p.A196V			Q99685	MGLL_HUMAN	monoglyceride lipase	216					acylglycerol acyl-chain remodeling (GO:0036155)|acylglycerol catabolic process (GO:0046464)|arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|fatty acid biosynthetic process (GO:0006633)|glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|long term synaptic depression (GO:0060292)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|regulation of endocannabinoid signaling pathway (GO:2000124)|regulation of inflammatory response (GO:0050727)|regulation of sensory perception of pain (GO:0051930)|regulation of signal transduction (GO:0009966)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acylglycerol lipase activity (GO:0047372)|lipid binding (GO:0008289)|lysophospholipase activity (GO:0004622)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CCGTGAGACGGCATTCAGCAG	0.612																																						ENST00000434178.2		NA																	0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						c.(646-648)gCc>gTc		monoglyceride lipase							53.0	59.0	57.0					3																	127413957		2098	4218	6316	SO:0001583	missense	11343				arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity	g.chr3:127413957G>A	BC000551	CCDS43148.1, CCDS46902.1, CCDS58852.1	3p13-q13.33	2014-03-14			ENSG00000074416	ENSG00000074416	3.1.1.23		17038	protein-coding gene	gene with protein product		609699				9495531	Standard	NM_007283		Approved	HU-K5, MGL	uc003ejx.4	Q99685	OTTHUMG00000159641	ENST00000434178.2:c.647C>T	3.37:g.127413957G>A	ENSP00000402798:p.Ala216Val	False	False		Somatic	0				MGLL_ENST00000453507.2_Missense_Mutation_p.A196V|MGLL_ENST00000398104.1_Missense_Mutation_p.A216V|MGLL_ENST00000398101.3_Missense_Mutation_p.A190V|MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000265052.5_Missense_Mutation_p.A226V	p.A216V			WXS	Illumina HiSeq	Phase_I	Q99685	MGLL_HUMAN			7	1543	-			216					B3KRC2|B7Z9D1|Q6IBG9|Q96AA5	Missense_Mutation	SNP	ENST00000434178.2	37	c.647C>T	CCDS43148.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.0|26.0	4.690146|4.690146	0.88735|0.88735	.|.	.|.	ENSG00000074416|ENSG00000074416	ENST00000434178;ENST00000265052;ENST00000398104;ENST00000398101;ENST00000536024;ENST00000453507;ENST00000484451|ENST00000496306	T;T;T;T;T|.	0.68479|.	-0.33;-0.33;-0.33;-0.33;-0.33|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73164|0.73164	0.3552|0.3552	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999998|0.999998	D;D;D;D|.	0.76494|.	0.979;0.999;0.986;0.994|.	P;D;P;D|.	0.67548|.	0.751;0.952;0.789;0.923|.	T|T	0.72218|0.72218	-0.4357|-0.4357	10|5	0.31617|.	T|.	0.26|.	-40.9361|-40.9361	18.335|18.335	0.90285|0.90285	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	196;216;226;190|.	B7Z9D1;Q99685;B3KRC2;E7EWX8|.	.;MGLL_HUMAN;.;.|.	V|S	216;226;216;190;226;196;110|122	ENSP00000402798:A216V;ENSP00000265052:A226V;ENSP00000381176:A216V;ENSP00000381173:A190V;ENSP00000419340:A110V|.	ENSP00000265052:A226V|.	A|P	-|-	2|1	0|0	MGLL|MGLL	128896647|128896647	1.000000|1.000000	0.71417|0.71417	0.907000|0.907000	0.35723|0.35723	0.923000|0.923000	0.55619|0.55619	5.586000|5.586000	0.67503|0.67503	2.317000|2.317000	0.78254|0.78254	0.591000|0.591000	0.81541|0.81541	GCC|CCG		0.612	MGLL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356637.2	0	NM_007283		3:127413957
NAALAD2	10003	broad.mit.edu	37	11	89868837	89868837	+	Splice_Site	SNP	C	C	T			TCGA-IB-AAUR-01A-21D-A38G-08	TCGA-IB-AAUR-10A-01D-A38J-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2e3e5ca3-d426-4682-8adb-df087f6160b1	6fff66d6-67fc-467d-8309-76463aaea166	g.chr11:89868837C>T	ENST00000534061.1	+	2	423	c.193C>T	c.(193-195)Cgt>Tgt	p.R65C	NAALAD2_ENST00000375944.3_Splice_Site_p.R65C|NAALAD2_ENST00000525171.1_Splice_Site_p.R65C|NAALAD2_ENST00000321955.4_Splice_Site_p.R65C	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	65					neurotransmitter catabolic process (GO:0042135)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|N-formylglutamate deformylase activity (GO:0050129)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATCATTTCTTCGGTAAGTTTA	0.348																																						ENST00000534061.1		NA																	0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59						c.e2+1		N-acetylated alpha-linked acidic dipeptidase 2							85.0	87.0	87.0					11																	89868837		2201	4299	6500	SO:0001630	splice_region_variant	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89868837C>T	AJ012370	CCDS8288.1, CCDS73364.1	11q14.3-q21	2011-08-16			ENSG00000077616	ENSG00000077616	3.4.17.21		14526	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase III"""	611636				10085079	Standard	NM_005467		Approved	NAALADASE2, NAADALASE2, GPCIII	uc001pdf.4	Q9Y3Q0	OTTHUMG00000166368	ENST00000534061.1:c.194+1C>T	11.37:g.89868837C>T		False	False		Somatic	0				NAALAD2_ENST00000525171.1_Splice_Site_p.R65_splice|NAALAD2_ENST00000321955.4_Splice_Site_p.R65_splice|NAALAD2_ENST00000375944.3_Splice_Site_p.R65_splice	p.R65_splice	NM_005467.3	NP_005458.1	WXS	Illumina HiSeq	Phase_I	Q9Y3Q0	NALD2_HUMAN			2	423	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	65					B3KQR4|Q4KKV4|Q4VAM9	Splice_Site	SNP	ENST00000534061.1	37	c.194_splice	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	C	18.45	3.626242	0.66901	.	.	ENSG00000077616	ENST00000525497;ENST00000534061;ENST00000321955;ENST00000525171;ENST00000375944;ENST00000526637	T;T;T;T;T;T	0.50001	0.76;0.96;0.96;0.96;0.96;0.96	5.17	4.26	0.50523	.	0.000000	0.85682	D	0.000000	T	0.70090	0.3184	M	0.87617	2.895	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.98;0.98;0.965;0.997;0.98	T	0.74372	-0.3687	9	.	.	.	-6.1181	11.0386	0.47816	0.0:0.9137:0.0:0.0863	.	65;65;65;65;65	Q4KKV4;E9PJV2;Q9Y3Q0;E9PKX5;Q8IUX3	.;.;NALD2_HUMAN;.;.	C	65;65;65;65;65;11	ENSP00000431989:R65C;ENSP00000432481:R65C;ENSP00000320083:R65C;ENSP00000435249:R65C;ENSP00000365111:R65C;ENSP00000435670:R11C	.	R	+	1	0	NAALAD2	89508485	0.998000	0.40836	1.000000	0.80357	0.783000	0.44284	1.650000	0.37292	1.425000	0.47237	0.644000	0.83932	CGT		0.348	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	0	NM_005467	Missense_Mutation	11:89868837
