#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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PRKCZ	5590	broad.mit.edu	37	1	2077510	2077510	+	Silent	SNP	C	C	T	rs150712752		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:2077510C>T	ENST00000400921.2	+	4	731	c.48C>T	c.(46-48)aaC>aaT	p.N16N	PRKCZ_ENST00000479263.1_3'UTR|PRKCZ_ENST00000400920.1_Silent_p.N16N|RP5-892K4.1_ENST00000606533.1_RNA	NM_001033581.1	NP_001028753.1	Q05513	KPCZ_HUMAN	protein kinase C, zeta	199	OPR.				actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496)	apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	18	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	Tamoxifen(DB00675)	ACGACAAGAACGAGGACGCCG	0.577																																						uc001aiq.2		NA																	0				central_nervous_system(4)|large_intestine(2)	6						c.(595-597)AAC>AAT		protein kinase C, zeta isoform 1		C	,,,	0,4406		0,0,2203	98.0	78.0	85.0		48,48,285,597	-5.2	0.0	1	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PRKCZ	NM_001033581.1,NM_001033582.1,NM_001242874.1,NM_002744.4	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	16/410,16/410,95/489,199/593	2077510	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5590				anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation	endosome	ATP binding|protein kinase C activity|zinc ion binding	g.chr1:2077510C>T	BC014270	CCDS37.1, CCDS41229.1, CCDS55563.1	1p36.33-p36.2	2009-07-10			ENSG00000067606	ENSG00000067606	2.7.11.1		9412	protein-coding gene	gene with protein product		176982					Standard	NM_001242874		Approved	PKC2	uc001aiq.3	Q05513	OTTHUMG00000001238	ENST00000400921.2:c.48C>T	1.37:g.2077510C>T						PRKCZ_uc001air.2_Silent_p.N16N|PRKCZ_uc010nyw.1_Silent_p.N95N|PRKCZ_uc001ais.2_Silent_p.N16N|PRKCZ_uc009vla.2_Silent_p.N23N|PRKCZ_uc010nyx.1_RNA|PRKCZ_uc009vlb.2_Silent_p.N12N	p.N199N	NM_002744	NP_002735	Q05513	KPCZ_HUMAN		Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213)	7	758	+	all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	199					A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4	Silent	SNP	ENST00000400921.2	37	c.597C>T	CCDS41229.1																																																																																				0.577	PRKCZ-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000098533.3	NM_002744		24	51	0	0	0	0	24	51				
MMEL1	79258	broad.mit.edu	37	1	2523445	2523445	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:2523445C>G	ENST00000378412.3	-	22	2250	c.2089G>C	c.(2089-2091)Gag>Cag	p.E697Q	MMEL1_ENST00000502556.1_Missense_Mutation_p.E540Q|MMEL1_ENST00000288709.6_Missense_Mutation_p.E688Q			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	697						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTGCCACCCTCTGCCATCCAC	0.627																																						uc001ajy.2		NA																	0					0						c.(2089-2091)GAG>CAG		membrane metallo-endopeptidase-like 1							69.0	60.0	63.0					1																	2523445		2203	4300	6503	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2523445C>G	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.2089G>C	1.37:g.2523445C>G	ENSP00000367668:p.Glu697Gln					MMEL1_uc009vlg.1_RNA	p.E697Q	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	22	2303	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	697			Lumenal (Potential).		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.2089G>C	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	C	0.577	-0.838573	0.02692	.	.	ENSG00000142606	ENST00000378411;ENST00000288709;ENST00000378412;ENST00000502556	D;D;D	0.90444	-2.67;-2.67;-2.67	3.86	2.89	0.33648	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.525783	0.20580	N	0.089546	T	0.79822	0.4512	N	0.16862	0.45	0.09310	N	1	B	0.19583	0.037	B	0.25405	0.06	T	0.63937	-0.6524	10	0.22109	T	0.4	-4.6364	6.304	0.21129	0.0:0.5787:0.3141:0.1072	.	697	Q495T6	MMEL1_HUMAN	Q	540;688;697;540	ENSP00000288709:E688Q;ENSP00000367668:E697Q;ENSP00000422492:E540Q	ENSP00000288709:E688Q	E	-	1	0	MMEL1	2513305	0.001000	0.12720	0.049000	0.19019	0.563000	0.35712	1.355000	0.34068	2.001000	0.58596	0.462000	0.41574	GAG		0.627	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		28	48	0	0	0	0	28	48				
PRDM16	63976	broad.mit.edu	37	1	3334404	3334404	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:3334404G>T	ENST00000270722.5	+	11	2753	c.2704G>T	c.(2704-2706)Gag>Tag	p.E902*	PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Nonsense_Mutation_p.E903*|PRDM16_ENST00000378398.3_Nonsense_Mutation_p.E902*|PRDM16_ENST00000514189.1_Nonsense_Mutation_p.E902*|PRDM16_ENST00000441472.2_Nonsense_Mutation_p.E901*|PRDM16_ENST00000378391.2_Nonsense_Mutation_p.E902*|PRDM16_ENST00000442529.2_Nonsense_Mutation_p.E901*			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	902	Interaction with CTBP1 and CTBP2. {ECO:0000250}.|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GTCAGCCATAGAGACCATGAC	0.592			T	EVI1	"""MDS, AML"""																																	uc001akf.2		NA		Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		MDS|AML		0				lung(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	7						c.(2704-2706)GAG>TAG		PR domain containing 16 isoform 1							150.0	166.0	161.0					1																	3334404		2103	4237	6340	SO:0001587	stop_gained	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3334404G>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2704G>T	1.37:g.3334404G>T	ENSP00000270722:p.Glu902*					PRDM16_uc001akc.2_Nonsense_Mutation_p.E901*|PRDM16_uc001akd.2_Nonsense_Mutation_p.E901*|PRDM16_uc001ake.2_Nonsense_Mutation_p.E902*|PRDM16_uc009vlh.2_Nonsense_Mutation_p.E602*	p.E902*	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	11	2784	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	902			Mediates interaction with SKI and regulation of TGF-beta signaling.|Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Nonsense_Mutation	SNP	ENST00000270722.5	37	c.2704G>T	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	G	40	7.924631	0.98563	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	.	.	.	4.59	4.59	0.56863	.	0.117401	0.35179	N	0.003381	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	17.7741	0.88502	0.0:0.0:1.0:0.0	.	.	.	.	X	903;902;901;901;902;902;902;718;718;710	.	ENSP00000270722:E902X	E	+	1	0	PRDM16	3324264	1.000000	0.71417	0.998000	0.56505	0.342000	0.28953	9.315000	0.96313	2.286000	0.76751	0.563000	0.77884	GAG		0.592	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		59	226	1	0	1.14e-29	1.26e-29	59	226				
PLEKHG5	57449	broad.mit.edu	37	1	6528529	6528529	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:6528529G>C	ENST00000400915.3	-	21	2601	c.2535C>G	c.(2533-2535)ctC>ctG	p.L845L	PLEKHG5_ENST00000544978.1_Silent_p.L789L|TNFRSF25_ENST00000351748.3_5'Flank|TNFRSF25_ENST00000377782.3_5'Flank|PLEKHG5_ENST00000377748.1_Silent_p.L866L|TNFRSF25_ENST00000348333.3_5'Flank|PLEKHG5_ENST00000537245.1_Silent_p.L868L|TNFRSF25_ENST00000351959.5_5'Flank|PLEKHG5_ENST00000377737.2_Silent_p.L789L|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000377732.1_Silent_p.L826L|TNFRSF25_ENST00000461703.2_5'Flank|PLEKHG5_ENST00000400913.1_Silent_p.L789L|PLEKHG5_ENST00000535355.1_Silent_p.L858L|PLEKHG5_ENST00000340850.5_Silent_p.L789L|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000377728.3_Silent_p.L789L|PLEKHG5_ENST00000377725.1_Silent_p.L789L	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	845					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CAGTGGTGCTGAGAGAGGTCT	0.652																																						uc001ano.1		NA																	0				liver(1)	1						c.(2533-2535)CTC>CTG		pleckstrin homology domain containing family G							28.0	28.0	28.0					1																	6528529		2203	4299	6502	SO:0001819	synonymous_variant	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6528529G>C	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2535C>G	1.37:g.6528529G>C						PLEKHG5_uc001ann.1_Silent_p.L826L|PLEKHG5_uc001anq.1_Intron|PLEKHG5_uc001anp.1_Silent_p.L866L|TNFRSF25_uc001ana.2_5'Flank|TNFRSF25_uc001anb.2_5'Flank|TNFRSF25_uc001anc.2_5'Flank|TNFRSF25_uc001and.2_5'Flank|TNFRSF25_uc009vlz.2_5'Flank|TNFRSF25_uc001ane.2_5'Flank|TNFRSF25_uc001anf.2_5'Flank|TNFRSF25_uc001ang.2_5'Flank|TNFRSF25_uc001anh.2_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Silent_p.L350L|PLEKHG5_uc009vma.1_Silent_p.L629L|PLEKHG5_uc010nzr.1_Silent_p.L858L|PLEKHG5_uc001ank.1_Silent_p.L789L|PLEKHG5_uc009vmb.1_Silent_p.L789L|PLEKHG5_uc001anl.1_Silent_p.L789L|PLEKHG5_uc001anm.1_Silent_p.L789L|PLEKHG5_uc001anr.1_Silent_p.L52L	p.L845L	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	21	2636	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	845					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	37	c.2535C>G	CCDS41241.1																																																																																				0.652	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		12	39	0	0	0	0	12	39				
KIF1B	23095	broad.mit.edu	37	1	10434488	10434488	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:10434488C>T	ENST00000377086.1	+	46	5263	c.5061C>T	c.(5059-5061)ctC>ctT	p.L1687L	KIF1B_ENST00000377081.1_Silent_p.L1687L|KIF1B_ENST00000263934.6_Silent_p.L1641L			O60333	KIF1B_HUMAN	kinesin family member 1B	1687					anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACGAATTTCTCAATCTTGTTC	0.433																																						uc001aqx.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(5059-5061)CTC>CTT		kinesin family member 1B isoform b							85.0	91.0	89.0					1																	10434488		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10434488C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.5061C>T	1.37:g.10434488C>T						KIF1B_uc001aqw.3_Silent_p.L1641L|KIF1B_uc001aqy.2_Silent_p.L1661L|KIF1B_uc001aqz.2_Silent_p.L1687L|KIF1B_uc001ara.2_Silent_p.L1647L|KIF1B_uc001arb.2_Silent_p.L1673L	p.L1687L	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	46	5263	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1687					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.5061C>T																																																																																					0.433	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			60	106	0	0	0	0	60	106				
NBPF1	55672	broad.mit.edu	37	1	16893673	16893673	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:16893673C>A	ENST00000430580.2	-	25	3727		c.e25+1		NBPF1_ENST00000432949.1_Splice_Site|NBPF1_ENST00000420031.2_Splice_Site	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AAGGTACTCACCATCCATGTC	0.468																																						uc009vos.1		NA																	0					0						c.e26+1		hypothetical protein LOC55672							921.0	767.0	819.0					1																	16893673		2203	4300	6503	SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16893673C>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2839+1G>T	1.37:g.16893673C>A						NBPF1_uc009vot.1_Splice_Site_p.E405_splice|NBPF1_uc001ayz.1_Splice_Site_p.E405_splice	p.R1022_splice	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	26	3952	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37	c.3064_splice																																																																																					0.468	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	17	887	1	0	1.98e-07	2.11e-07	17	887				
MAN1C1	57134	broad.mit.edu	37	1	25944444	25944444	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:25944444C>G	ENST00000374332.4	+	1	486	c.156C>G	c.(154-156)ctC>ctG	p.L52L	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	52					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TCAAGCGCCTCTTCCTGGCCC	0.697																																						uc001bkm.2		NA																	0				skin(1)	1						c.(154-156)CTC>CTG		mannosidase, alpha, class 1C, member 1							24.0	27.0	26.0					1																	25944444		2196	4292	6488	SO:0001819	synonymous_variant	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:25944444C>G	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.156C>G	1.37:g.25944444C>G						MAN1C1_uc009vry.1_5'UTR	p.L52L	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	1	486	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	52			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Silent	SNP	ENST00000374332.4	37	c.156C>G	CCDS265.1																																																																																				0.697	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		7	51	0	0	0	0	7	51				
MAN1C1	57134	broad.mit.edu	37	1	25944475	25944475	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:25944475C>G	ENST00000374332.4	+	1	517	c.187C>G	c.(187-189)Ctg>Gtg	p.L63V	MAN1C1_ENST00000263979.3_5'UTR	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	63					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		GCAGCCTGGTCTGGAAGTGGT	0.746																																						uc001bkm.2		NA																	0				skin(1)	1						c.(187-189)CTG>GTG		mannosidase, alpha, class 1C, member 1							16.0	19.0	18.0					1																	25944475		2194	4288	6482	SO:0001583	missense	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:25944475C>G	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.187C>G	1.37:g.25944475C>G	ENSP00000363452:p.Leu63Val					MAN1C1_uc009vry.1_5'UTR	p.L63V	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	1	517	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	63			Lumenal (Potential).		A6NNE2|B2RNP2|Q9Y545	Missense_Mutation	SNP	ENST00000374332.4	37	c.187C>G	CCDS265.1	.	.	.	.	.	.	.	.	.	.	c	0.011	-1.711178	0.00712	.	.	ENSG00000117643	ENST00000374332	D	0.82255	-1.59	4.17	-3.01	0.05463	.	1.985850	0.02845	N	0.128460	T	0.60881	0.2303	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.52682	-0.8543	10	0.13853	T	0.58	.	0.9822	0.01438	0.1469:0.2953:0.2887:0.2692	.	63	Q9NR34	MA1C1_HUMAN	V	63	ENSP00000363452:L63V	ENSP00000363452:L63V	L	+	1	2	MAN1C1	25817062	1.000000	0.71417	0.602000	0.28890	0.274000	0.26718	2.231000	0.43009	-0.958000	0.03622	-1.292000	0.01352	CTG		0.746	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		4	38	0	0	0	0	4	38				
BAI2	576	broad.mit.edu	37	1	32210289	32210289	+	Silent	SNP	C	C	T	rs138537223	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:32210289C>T	ENST00000373658.3	-	5	1223	c.882G>A	c.(880-882)ccG>ccA	p.P294P	BAI2_ENST00000398538.1_Silent_p.P282P|BAI2_ENST00000398547.1_Silent_p.P282P|BAI2_ENST00000527361.1_Silent_p.P294P|BAI2_ENST00000257070.4_Silent_p.P294P|BAI2_ENST00000440175.2_5'UTR|BAI2_ENST00000398556.3_Silent_p.P297P|BAI2_ENST00000398542.1_Silent_p.P282P|BAI2_ENST00000373655.2_Silent_p.P294P	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	294					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		CTGCAGACCTCGGCCACTGGG	0.627													C|||	6	0.00119808	0.0045	0.0	5008	,	,		19854	0.0		0.0	False		,,,				2504	0.0					uc001btn.2		NA																	0				lung(5)|breast(4)|ovary(2)|central_nervous_system(1)|skin(1)	13						c.(880-882)CCG>CCA		brain-specific angiogenesis inhibitor 2		C		17,4389	24.3+/-50.5	0,17,2186	109.0	90.0	96.0		882	0.5	1.0	1	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous	BAI2	NM_001703.2		0,17,6486	TT,TC,CC		0.0,0.3858,0.1307		294/1586	32210289	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32210289C>T	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.882G>A	1.37:g.32210289C>T						BAI2_uc010ogo.1_5'UTR|BAI2_uc010ogp.1_Silent_p.P282P|BAI2_uc010ogq.1_Silent_p.P294P|BAI2_uc001bto.2_Silent_p.P294P|BAI2_uc001btq.1_Silent_p.P282P|BAI2_uc010ogr.1_Silent_p.P282P	p.P294P	NM_001703	NP_001694	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	5	1236	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	294			Extracellular (Potential).		B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Silent	SNP	ENST00000373658.3	37	c.882G>A	CCDS346.2																																																																																				0.627	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		11	36	0	0	0	0	11	36				
YARS	8565	broad.mit.edu	37	1	33252028	33252028	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:33252028C>G	ENST00000373477.4	-	8	1749	c.841G>C	c.(841-843)Gag>Cag	p.E281Q		NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	281					apoptotic process (GO:0006915)|gene expression (GO:0010467)|signal transduction (GO:0007165)|tRNA aminoacylation for protein translation (GO:0006418)|tyrosyl-tRNA aminoacylation (GO:0006437)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|interleukin-8 receptor binding (GO:0005153)|poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)|tRNA binding (GO:0000049)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CCCCATTTCTCATCTCGTAGG	0.428																																						uc001bvy.1		NA																	0				skin(2)	2						c.(841-843)GAG>CAG		tyrosyl-tRNA synthetase	L-Tyrosine(DB00135)						171.0	138.0	149.0					1																	33252028		2203	4300	6503	SO:0001583	missense	8565				apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity	g.chr1:33252028C>G	U89436	CCDS368.1	1p35.1	2014-09-17			ENSG00000134684	ENSG00000134684	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	12840	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 1, cytoplasmic"""	603623				8552597, 9162081	Standard	NM_003680		Approved	YTS, YRS, tyrRS	uc001bvy.1	P54577	OTTHUMG00000003933	ENST00000373477.4:c.841G>C	1.37:g.33252028C>G	ENSP00000362576:p.Glu281Gln					YARS_uc001bvx.1_5'Flank	p.E281Q	NM_003680	NP_003671	P54577	SYYC_HUMAN			8	1629	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)	281					B3KWK4|D3DPQ4|O43276|Q53EN1	Missense_Mutation	SNP	ENST00000373477.4	37	c.841G>C	CCDS368.1	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113775	0.56398	.	.	ENSG00000134684	ENST00000373477	T	0.72505	-0.66	4.92	4.92	0.64577	.	0.150542	0.64402	D	0.000015	T	0.79112	0.4391	M	0.87097	2.86	0.48395	D	0.999646	P	0.44260	0.83	P	0.44597	0.454	T	0.82530	-0.0411	10	0.48119	T	0.1	-21.1843	19.0294	0.92950	0.0:1.0:0.0:0.0	.	281	P54577	SYYC_HUMAN	Q	281	ENSP00000362576:E281Q	ENSP00000362576:E281Q	E	-	1	0	YARS	33024615	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.018000	0.49625	2.660000	0.90430	0.467000	0.42956	GAG		0.428	YARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011225.1	NM_003680		13	39	0	0	0	0	13	39				
MACF1	23499	broad.mit.edu	37	1	39753030	39753030	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:39753030C>T	ENST00000372915.3	+	14	1683	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	MACF1_ENST00000567887.1_Silent_p.F564F|MACF1_ENST00000564288.1_Silent_p.F527F|MACF1_ENST00000317713.7_Silent_p.F532F|MACF1_ENST00000361689.2_Silent_p.F532F|MACF1_ENST00000545844.1_Silent_p.F532F|MACF1_ENST00000539005.1_Silent_p.F532F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	532					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGGGTCATTTCACTTCACTTG	0.463																																						uc010ois.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(1594-1596)TTC>TTT		microfilament and actin filament cross-linker							207.0	179.0	188.0					1																	39753030		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39753030C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1596C>T	1.37:g.39753030C>T						MACF1_uc001cda.1_Silent_p.F440F	p.F532F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		16	1801	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	532					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.1596C>T																																																																																					0.463	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		45	148	0	0	0	0	45	148				
MACF1	23499	broad.mit.edu	37	1	39753073	39753073	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:39753073C>G	ENST00000372915.3	+	14	1726	c.1639C>G	c.(1639-1641)Cat>Gat	p.H547D	MACF1_ENST00000567887.1_Missense_Mutation_p.H579D|MACF1_ENST00000564288.1_Missense_Mutation_p.H542D|MACF1_ENST00000317713.7_Missense_Mutation_p.H547D|MACF1_ENST00000361689.2_Missense_Mutation_p.H547D|MACF1_ENST00000545844.1_Missense_Mutation_p.H547D|MACF1_ENST00000539005.1_Missense_Mutation_p.H547D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	547					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AACCACCACTCATCTGAAAGC	0.498																																						uc010ois.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(1639-1641)CAT>GAT		microfilament and actin filament cross-linker							240.0	211.0	221.0					1																	39753073		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39753073C>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1639C>G	1.37:g.39753073C>G	ENSP00000362006:p.His547Asp					MACF1_uc001cda.1_Missense_Mutation_p.H455D	p.H547D	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		16	1844	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	547					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.1639C>G		.	.	.	.	.	.	.	.	.	.	C	14.29	2.490732	0.44249	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000524432;ENST00000530262;ENST00000372900	D;D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.71	5.71	0.89125	.	.	.	.	.	D	0.88771	0.6527	L	0.40543	1.245	0.80722	D	1	B;B	0.20550	0.046;0.014	B;B	0.15870	0.012;0.014	D	0.83865	0.0270	9	0.19147	T	0.46	.	19.8632	0.96793	0.0:1.0:0.0:0.0	.	547;512	F8W8Q1;Q9UPN3-3	.;.	D	547;547;547;547;547;505;696;707	ENSP00000439537:H547D;ENSP00000362006:H547D;ENSP00000354573:H547D;ENSP00000313438:H547D;ENSP00000444364:H547D;ENSP00000435070:H505D;ENSP00000437059:H696D	ENSP00000313438:H547D	H	+	1	0	MACF1	39525660	0.912000	0.30974	1.000000	0.80357	0.966000	0.64601	4.066000	0.57520	2.704000	0.92352	0.561000	0.74099	CAT		0.498	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		59	205	0	0	0	0	59	205				
MYSM1	114803	broad.mit.edu	37	1	59148058	59148058	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:59148058C>T	ENST00000472487.1	-	8	697	c.658G>A	c.(658-660)Gat>Aat	p.D220N	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	220					chromatin remodeling (GO:0006338)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ACTTCTTCATCATCAGATAAC	0.388																																						uc009wab.1		NA																	0				skin(1)	1						c.(658-660)GAT>AAT		Myb-like, SWIRM and MPN domains 1							130.0	121.0	124.0					1																	59148058		1887	4108	5995	SO:0001583	missense	114803				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:59148058C>T	AB067502	CCDS41343.1	1p32.1	2009-02-11	2009-02-11		ENSG00000162601	ENSG00000162601			29401	protein-coding gene	gene with protein product		612176				11572484, 17428495, 17707232	Standard	NM_001085487		Approved	KIAA1915	uc009wab.2	Q5VVJ2	OTTHUMG00000009533	ENST00000472487.1:c.658G>A	1.37:g.59148058C>T	ENSP00000418734:p.Asp220Asn					MYSM1_uc001czc.2_RNA	p.D220N	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN			8	681	-	all_cancers(7;9.36e-06)		220					A8KA54|B3KX65|Q68DD3|Q6AI53|Q7Z3G8|Q96PX3	Missense_Mutation	SNP	ENST00000472487.1	37	c.658G>A	CCDS41343.1	.	.	.	.	.	.	.	.	.	.	C	32	5.186771	0.94923	.	.	ENSG00000162601	ENST00000472487	T	0.33216	1.42	5.12	5.12	0.69794	.	0.050125	0.85682	D	0.000000	T	0.46112	0.1376	L	0.36672	1.1	0.58432	D	0.999993	D	0.89917	1.0	D	0.71184	0.972	T	0.27536	-1.0071	10	0.44086	T	0.13	-19.2274	17.7269	0.88367	0.0:1.0:0.0:0.0	.	220	Q5VVJ2	MYSM1_HUMAN	N	220	ENSP00000418734:D220N	ENSP00000418734:D220N	D	-	1	0	MYSM1	58920646	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.841000	0.75374	2.664000	0.90586	0.650000	0.86243	GAT		0.388	MYSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026343.2	XM_055481		26	132	0	0	0	0	26	132				
LRRC7	57554	broad.mit.edu	37	1	70505456	70505456	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:70505456G>C	ENST00000035383.5	+	19	3865	c.3835G>C	c.(3835-3837)Gaa>Caa	p.E1279Q	LRRC7_ENST00000310961.5_Missense_Mutation_p.E1284Q|LRRC7_ENST00000415775.2_Missense_Mutation_p.E563Q	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1279						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAGACATATAGAAGCTAGACG	0.438																																						uc001dep.2		NA																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3835-3837)GAA>CAA		leucine rich repeat containing 7							92.0	91.0	92.0					1																	70505456		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70505456G>C		CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3835G>C	1.37:g.70505456G>C	ENSP00000035383:p.Glu1279Gln					LRRC7_uc009wbg.2_Missense_Mutation_p.E563Q|LRRC7_uc001deq.2_Missense_Mutation_p.E520Q	p.E1279Q	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3865	+			1279					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3835G>C	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214674	0.79352	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.70282	0.24;-0.47;0.77	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	N	0.24115	0.695	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;0.986	D;D;P	0.85130	0.988;0.997;0.7	T	0.75866	-0.3166	10	0.72032	D	0.01	.	19.848	0.96722	0.0:0.0:1.0:0.0	.	563;1279;1279	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	Q	1284;1279;563;1102	ENSP00000309245:E1284Q;ENSP00000035383:E1279Q;ENSP00000394867:E563Q	ENSP00000035383:E1279Q	E	+	1	0	LRRC7	70278044	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.328000	0.96403	2.937000	0.99478	0.650000	0.86243	GAA		0.438	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794		26	127	0	0	0	0	26	127				
DNAJB4	11080	broad.mit.edu	37	1	78470899	78470899	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:78470899G>C	ENST00000370763.5	+	1	362	c.105G>C	c.(103-105)aaG>aaC	p.K35N	DNAJB4_ENST00000487931.1_Intron|GIPC2_ENST00000476882.1_Intron|RP11-386I14.4_ENST00000608684.1_RNA	NM_007034.3	NP_008965.2	Q9UDY4	DNJB4_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 4	35	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)|response to heat (GO:0009408)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						ATCCGGACAAGAACAAATCTC	0.373																																						uc001dij.2		NA																	0					0						c.(103-105)AAG>AAC		DnaJ (Hsp40) homolog, subfamily B, member 4							69.0	76.0	74.0					1																	78470899		2202	4299	6501	SO:0001583	missense	11080				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding	g.chr1:78470899G>C	U40992	CCDS684.1	1p31.1	2011-09-02			ENSG00000162616	ENSG00000162616		"""Heat shock proteins / DNAJ (HSP40)"""	14886	protein-coding gene	gene with protein product		611327				9546042, 11147971	Standard	NM_007034		Approved	HLJ1	uc001dij.3	Q9UDY4	OTTHUMG00000040905	ENST00000370763.5:c.105G>C	1.37:g.78470899G>C	ENSP00000359799:p.Lys35Asn					DNAJB4_uc010orn.1_Intron	p.K35N	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN			1	264	+			35			J.		B2R824|Q13431	Missense_Mutation	SNP	ENST00000370763.5	37	c.105G>C	CCDS684.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714746	0.68730	.	.	ENSG00000162616	ENST00000426517;ENST00000370763	T;T	0.39997	1.05;1.05	5.83	5.83	0.93111	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.66406	0.2786	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.69844	-0.5035	10	0.66056	D	0.02	.	20.1123	0.97915	0.0:0.0:1.0:0.0	.	35	Q9UDY4	DNJB4_HUMAN	N	35	ENSP00000399494:K35N;ENSP00000359799:K35N	ENSP00000359799:K35N	K	+	3	2	DNAJB4	78243487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.391000	0.79828	2.742000	0.94016	0.650000	0.86243	AAG		0.373	DNAJB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098248.3			3	118	0	0	0	0	3	118				
ELTD1	64123	broad.mit.edu	37	1	79387472	79387472	+	Splice_Site	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:79387472C>A	ENST00000370742.3	-	9	1147		c.e9-1			NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATCTGTGACCTGAAAAAAAG	0.353																																						uc001diq.3		NA																	0				ovary(1)|skin(1)	2						c.e9-1		EGF, latrophilin and seven transmembrane domain							78.0	72.0	74.0					1																	79387472		1877	4106	5983	SO:0001630	splice_region_variant	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79387472C>A	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.1084-1G>T	1.37:g.79387472C>A							p.V362_splice	NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	9	1240	-								B1AR71|Q5KU34	Splice_Site	SNP	ENST00000370742.3	37	c.1084_splice	CCDS41352.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238159	0.22711	.	.	ENSG00000162618	ENST00000370742	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6784	0.95946	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ELTD1	79160060	1.000000	0.71417	0.963000	0.40424	0.021000	0.10359	4.446000	0.60014	2.724000	0.93272	0.585000	0.79938	.		0.353	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	NM_022159	Intron	7	34	1	0	1.26e-09	1.36e-09	7	34				
PTBP2	58155	broad.mit.edu	37	1	97235416	97235416	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:97235416G>C	ENST00000426398.2	+	4	316	c.273G>C	c.(271-273)ctG>ctC	p.L91L	PTBP2_ENST00000541987.1_Silent_p.L60L|PTBP2_ENST00000370198.1_Silent_p.L91L|PTBP2_ENST00000394184.3_Silent_p.L102L|PTBP2_ENST00000370197.1_Silent_p.L91L|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_Silent_p.L91L	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	91	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCCTTATGCTGAAAGGAAAAA	0.368																																						uc001drq.2		NA																	0					0						c.(271-273)CTG>CTC		polypyrimidine tract binding protein 2							84.0	89.0	87.0					1																	97235416		2203	4300	6503	SO:0001819	synonymous_variant	58155						nucleotide binding	g.chr1:97235416G>C	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	ENST00000426398.2:c.273G>C	1.37:g.97235416G>C						PTBP2_uc001drn.2_Silent_p.L91L|PTBP2_uc001dro.2_Silent_p.L91L|PTBP2_uc010otz.1_Silent_p.L102L|PTBP2_uc001drp.2_RNA|PTBP2_uc009wdw.2_Silent_p.L39L|PTBP2_uc001drr.2_Silent_p.L91L|PTBP2_uc010oua.1_Silent_p.L99L|PTBP2_uc001dru.2_RNA|PTBP2_uc001drm.2_Silent_p.L91L	p.L91L	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	4	519	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	91			RRM 1.		Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Silent	SNP	ENST00000426398.2	37	c.273G>C	CCDS754.1																																																																																				0.368	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1			31	81	0	0	0	0	31	81				
SPRR2B	6701	broad.mit.edu	37	1	153043109	153043109	+	Silent	SNP	C	C	T	rs541636188	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:153043109C>T	ENST00000368755.2	-	1	207	c.207G>A	c.(205-207)ccG>ccA	p.P69P	SPRR2B_ENST00000341611.2_Silent_p.P69P|SPRR2B_ENST00000368752.4_Silent_p.P69P			P35325	SPR2B_HUMAN	small proline-rich protein 2B	69					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGCTCTTCGGTGGATACT	0.532																																						uc001fbg.2		NA																	0					0						c.(205-207)CCG>CCA		small proline-rich protein 2B							249.0	219.0	229.0					1																	153043109		2203	4300	6503	SO:0001819	synonymous_variant	6701				keratinization	cornified envelope|cytoplasm		g.chr1:153043109C>T	AF333952	CCDS30865.1	1q21-q22	2008-02-05			ENSG00000196805	ENSG00000196805			11262	protein-coding gene	gene with protein product		182268				8325635	Standard	NM_001017418		Approved		uc001fbg.3	P35325	OTTHUMG00000013863	ENST00000368755.2:c.207G>A	1.37:g.153043109C>T						SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron	p.P69P	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	270	-	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		69					Q5T528	Silent	SNP	ENST00000368755.2	37	c.207G>A	CCDS30865.1																																																																																				0.532	SPRR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038905.2			60	176	0	0	0	0	60	176				
RUSC1	23623	broad.mit.edu	37	1	155292131	155292131	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:155292131G>T	ENST00000368352.5	+	2	718	c.567G>T	c.(565-567)caG>caT	p.Q189H	RUSC1_ENST00000368347.4_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000292254.4_5'Flank|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1_ENST00000368354.3_Missense_Mutation_p.Q189H|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000446880.1_RNA	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	189					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CCACCTGCCAGGACGTCCCTT	0.607																																						uc001fkj.2		NA																	0				ovary(2)	2						c.(565-567)CAG>CAT		RUN and SH3 domain containing 1 isoform a							49.0	52.0	51.0					1																	155292131		1995	4179	6174	SO:0001583	missense	23623					cytoplasm|nucleolus	SH3/SH2 adaptor activity	g.chr1:155292131G>T	AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.567G>T	1.37:g.155292131G>T	ENSP00000357336:p.Gln189His					RAG1AP1_uc010pey.1_Intron|C1orf104_uc001fkh.1_5'Flank|C1orf104_uc001fki.2_Intron|RUSC1_uc001fkk.2_Missense_Mutation_p.Q189H|RUSC1_uc009wqn.1_RNA|RUSC1_uc009wqo.1_5'Flank|RUSC1_uc001fkl.2_5'Flank|RUSC1_uc001fkp.2_5'Flank|RUSC1_uc001fkq.2_5'Flank|RUSC1_uc010pgb.1_5'Flank|RUSC1_uc009wqp.1_5'Flank|RUSC1_uc001fkn.2_5'Flank|RUSC1_uc001fko.2_5'Flank|RUSC1_uc001fkr.2_5'Flank	p.Q189H	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		2	796	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		189					B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Missense_Mutation	SNP	ENST00000368352.5	37	c.567G>T	CCDS41410.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922915	0.52653	.	.	ENSG00000160753	ENST00000368354;ENST00000368352	T;T	0.32515	1.49;1.45	4.7	3.79	0.43588	.	0.000000	0.41001	D	0.000976	T	0.25195	0.0612	N	0.19112	0.55	0.80722	D	1	D	0.65815	0.995	D	0.69142	0.962	T	0.11690	-1.0577	10	0.72032	D	0.01	-10.6619	10.8989	0.47040	0.092:0.0:0.908:0.0	.	189	Q9BVN2	RUSC1_HUMAN	H	189	ENSP00000357338:Q189H;ENSP00000357336:Q189H	ENSP00000357336:Q189H	Q	+	3	2	RUSC1	153558755	0.046000	0.20272	0.997000	0.53966	0.916000	0.54674	-0.138000	0.10374	1.212000	0.43366	-0.224000	0.12420	CAG		0.607	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			29	69	1	0	1.75e-13	1.9e-13	29	69				
FAM78B	149297	broad.mit.edu	37	1	166039589	166039589	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:166039589C>T	ENST00000338353.3	-	3	1264	c.675G>A	c.(673-675)cgG>cgA	p.R225R	FAM78B_ENST00000354422.3_Silent_p.R225R			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	225										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TGGGTTCCATCCGGCTCAGGA	0.627																																						uc001gdr.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(673-675)CGG>CGA		hypothetical protein LOC149297							87.0	85.0	86.0					1																	166039589		2203	4300	6503	SO:0001819	synonymous_variant	149297							g.chr1:166039589C>T	AL626787	CCDS30931.1	1q24.1	2008-02-05			ENSG00000188859	ENSG00000188859			13495	protein-coding gene	gene with protein product							Standard	NM_001017961		Approved		uc021pee.1	Q5VT40	OTTHUMG00000034705	ENST00000338353.3:c.675G>A	1.37:g.166039589C>T						FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA	p.R225R	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN			3	1265	-	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)		225					B7Z693	Silent	SNP	ENST00000338353.3	37	c.675G>A	CCDS30931.1																																																																																				0.627	FAM78B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343108.1	NM_001017961		20	95	0	0	0	0	20	95				
LGR6	59352	broad.mit.edu	37	1	202287946	202287946	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:202287946C>T	ENST00000367278.3	+	18	2604	c.2515C>T	c.(2515-2517)Cgg>Tgg	p.R839W	LGR6_ENST00000255432.7_Missense_Mutation_p.R787W|LGR6_ENST00000439764.2_Missense_Mutation_p.R700W	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	839					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of Wnt signaling pathway (GO:0030177)|Wnt signaling pathway (GO:0016055)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGATGACCTTCGGCGGCTTCG	0.667																																						uc001gxu.2		NA																	0				large_intestine(4)|ovary(3)|skin(2)|pancreas(1)	10						c.(2515-2517)CGG>TGG		leucine-rich repeat-containing G protein-coupled							80.0	83.0	82.0					1																	202287946		2203	4300	6503	SO:0001583	missense	59352					integral to membrane|plasma membrane	protein-hormone receptor activity	g.chr1:202287946C>T	AF190501	CCDS1424.1, CCDS30971.1, CCDS30972.1	1q32.1	2012-08-21	2011-01-25		ENSG00000133067	ENSG00000133067		"""GPCR / Class A : Orphans"""	19719	protein-coding gene	gene with protein product		606653	"""leucine-rich repeat-containing G protein-coupled receptor 6"""			10935549	Standard	XM_005245404		Approved	FLJ14471	uc001gxu.3	Q9HBX8	OTTHUMG00000041383	ENST00000367278.3:c.2515C>T	1.37:g.202287946C>T	ENSP00000356247:p.Arg839Trp					LGR6_uc001gxv.2_Missense_Mutation_p.R787W|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Missense_Mutation_p.R700W	p.R839W	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN			18	2515	+			839			Cytoplasmic (Potential).		Q5T509|Q5T512|Q6UY15|Q86VU0|Q96K69|Q9BYD7	Missense_Mutation	SNP	ENST00000367278.3	37	c.2515C>T	CCDS30971.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.141191	0.56936	.	.	ENSG00000133067	ENST00000367278;ENST00000255432;ENST00000439764	T;T;T	0.40225	1.04;1.04;1.04	4.6	1.56	0.23342	.	0.168193	0.39146	N	0.001441	T	0.46814	0.1412	L	0.46157	1.445	0.32721	N	0.510281	D;D;D	0.89917	1.0;0.998;0.997	P;P;P	0.62014	0.897;0.764;0.772	T	0.55398	-0.8147	10	0.62326	D	0.03	.	5.1825	0.15167	0.1392:0.5169:0.2696:0.0743	.	700;787;839	Q9HBX8-1;Q9HBX8-2;Q9HBX8	.;.;LGR6_HUMAN	W	839;787;700	ENSP00000356247:R839W;ENSP00000255432:R787W;ENSP00000387869:R700W	ENSP00000255432:R787W	R	+	1	2	LGR6	200554569	0.997000	0.39634	0.986000	0.45419	0.832000	0.47134	1.356000	0.34079	0.241000	0.21283	0.485000	0.47835	CGG		0.667	LGR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099143.1	NM_021636		34	118	0	0	0	0	34	118				
OBSCN	84033	broad.mit.edu	37	1	228432096	228432096	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:228432096A>G	ENST00000422127.1	+	11	3349	c.3305A>G	c.(3304-3306)cAg>cGg	p.Q1102R	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.Q1102R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.Q1194R	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1102	Ig-like 11.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCAGGCCCAGACGGAGGTG	0.597																																						uc009xez.1		NA																	0				stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1)	28						c.(3304-3306)CAG>CGG		obscurin, cytoskeletal calmodulin and							85.0	82.0	83.0					1																	228432096		2033	4172	6205	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228432096A>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.3305A>G	1.37:g.228432096A>G	ENSP00000409493:p.Gln1102Arg					OBSCN_uc001hsn.2_Missense_Mutation_p.Q1102R	p.Q1102R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN			11	3349	+		Prostate(94;0.0405)	1102			Ig-like 11.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.3305A>G	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	1.115	-0.656960	0.03480	.	.	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.68331	-0.32;-0.32	3.63	2.5	0.30297	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.475728	0.19889	N	0.103766	T	0.53094	0.1775	L	0.39898	1.24	0.19945	N	0.999943	P;P	0.35774	0.498;0.519	B;B	0.40329	0.326;0.122	T	0.35822	-0.9773	10	0.15499	T	0.54	.	5.1305	0.14907	0.7203:0.1807:0.099:0.0	.	1102;1102	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	R	1102	ENSP00000284548:Q1102R;ENSP00000409493:Q1102R	ENSP00000284548:Q1102R	Q	+	2	0	OBSCN	226498719	0.019000	0.18553	0.706000	0.30403	0.018000	0.09664	2.036000	0.41165	0.484000	0.27630	0.374000	0.22700	CAG		0.597	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		9	87	0	0	0	0	9	87				
TRIM58	25893	broad.mit.edu	37	1	248028108	248028108	+	Silent	SNP	G	G	A	rs147052726		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr1:248028108G>A	ENST00000366481.3	+	3	666	c.618G>A	c.(616-618)gcG>gcA	p.A206A		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	206						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTGGAGGCGGAGGAGCGAG	0.622																																						uc001ido.2		NA																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(616-618)GCG>GCA		tripartite motif-containing 58		G		1,4405	2.1+/-5.4	0,1,2202	43.0	40.0	41.0		618	1.3	1.0	1	dbSNP_134	41	0,8600		0,0,4300	no	coding-synonymous	TRIM58	NM_015431.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		206/487	248028108	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248028108G>A	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.618G>A	1.37:g.248028108G>A							p.A206A	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	666	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	206			Potential.		Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.618G>A	CCDS1636.1																																																																																				0.622	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		21	40	0	0	0	0	21	40				
FAM107B	83641	broad.mit.edu	37	10	14816385	14816385	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:14816385G>C	ENST00000181796.2	-	1	511	c.278C>G	c.(277-279)tCa>tGa	p.S93*		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	0					sensory perception of sound (GO:0007605)					breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCGGTGACTTGAATTCCGATT	0.597																																						uc001ina.1		NA																	0				breast(4)	4						c.(277-279)TCA>TGA		hypothetical protein LOC83641							163.0	159.0	160.0					10																	14816385		2203	4300	6503	SO:0001587	stop_gained	83641							g.chr10:14816385G>C	AK127413	CCDS7102.1, CCDS60486.1	10p14	2006-01-17	2006-01-17	2005-11-20	ENSG00000065809	ENSG00000065809			23726	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 45"""	C10orf45		11230166	Standard	XM_005252616		Approved	FLJ45505, MGC11034	uc001ina.1	Q9H098	OTTHUMG00000017709	ENST00000181796.2:c.278C>G	10.37:g.14816385G>C	ENSP00000181796:p.Ser93*					FAM107B_uc010qbu.1_RNA	p.S93*	NM_031453	NP_113641	Q9H098	F107B_HUMAN			1	512	-			Error:Variant_position_missing_in_Q9H098_after_alignment					A8K1P4|D3DRT2|Q5T9K7|Q5T9K8|Q6ZSI4	Nonsense_Mutation	SNP	ENST00000181796.2	37	c.278C>G	CCDS7102.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375006	0.82573	.	.	ENSG00000065809	ENST00000181796	.	.	.	4.37	2.46	0.29980	.	0.914684	0.08882	N	0.879928	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.3173	4.3026	0.10932	0.0887:0.1499:0.5962:0.1652	.	.	.	.	X	93	.	ENSP00000181796:S93X	S	-	2	0	FAM107B	14856391	0.026000	0.19158	0.000000	0.03702	0.001000	0.01503	1.952000	0.40343	0.735000	0.32537	0.655000	0.94253	TCA		0.597	FAM107B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000356966.1	NM_031453		53	118	0	0	0	0	53	118				
GPRIN2	9721	broad.mit.edu	37	10	46999441	46999441	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:46999441G>C	ENST00000374317.1	+	3	834	c.561G>C	c.(559-561)tgG>tgC	p.W187C	GPRIN2_ENST00000374314.4_Missense_Mutation_p.W187C	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	187										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						ACTCAGCCTGGATGCTGGGGG	0.627																																						uc001jec.2		NA																	0					0						c.(559-561)TGG>TGC		G protein-regulated inducer of neurite outgrowth							45.0	45.0	45.0					10																	46999441		2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999441G>C	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.561G>C	10.37:g.46999441G>C	ENSP00000363436:p.Trp187Cys					GPRIN2_uc010qfq.1_5'Flank	p.W187C	NM_014696	NP_055511	O60269	GRIN2_HUMAN			3	696	+			187					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.561G>C	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	5.395	0.258091	0.10239	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03330	3.97;3.97	5.28	3.34	0.38264	.	0.518330	0.16572	N	0.208600	T	0.03739	0.0106	L	0.31294	0.92	0.20638	N	0.999878	B	0.14012	0.009	B	0.12156	0.007	T	0.39313	-0.9620	10	0.32370	T	0.25	-0.5474	12.138	0.53982	0.0:0.3312:0.6688:0.0	.	187	O60269	GRIN2_HUMAN	C	187	ENSP00000363436:W187C;ENSP00000363433:W187C	ENSP00000363433:W187C	W	+	3	0	GPRIN2	46419447	0.001000	0.12720	0.610000	0.28997	0.584000	0.36387	0.666000	0.25097	0.670000	0.31165	0.555000	0.69702	TGG		0.627	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696		9	37	0	0	0	0	9	37				
RBP3	5949	broad.mit.edu	37	10	48390446	48390446	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:48390446C>G	ENST00000224600.4	-	1	545	c.432G>C	c.(430-432)ctG>ctC	p.L144L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	144	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.L144L(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCATCATGCTCAGCACCTCCT	0.642																																						uc001jez.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|central_nervous_system(1)	2						c.(430-432)CTG>CTC		retinol-binding protein 3 precursor	Vitamin A(DB00162)						69.0	75.0	73.0					10																	48390446		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48390446C>G	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.432G>C	10.37:g.48390446C>G							p.L144L	NM_002900	NP_002891	P10745	RET3_HUMAN			1	546	-			144			4 X approximate tandem repeats.|1.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.432G>C	CCDS7218.1																																																																																				0.642	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900		19	76	0	0	0	0	19	76				
SLC18A3	6572	broad.mit.edu	37	10	50819200	50819200	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:50819200G>C	ENST00000374115.3	+	1	854	c.414G>C	c.(412-414)gtG>gtC	p.V138V	CHAT_ENST00000351556.3_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000339797.1_Intron|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000337653.2_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	138					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						AGCTGCTAGTGAACCCCTTGA	0.632																																						uc001jhw.2		NA																	0				ovary(2)	2						c.(412-414)GTG>GTC		vesicular acetylcholine transporter							100.0	96.0	97.0					10																	50819200		2203	4300	6503	SO:0001819	synonymous_variant	6572				neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	g.chr10:50819200G>C	BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.414G>C	10.37:g.50819200G>C						CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank	p.V138V	NM_003055	NP_003046	Q16572	VACHT_HUMAN			1	854	+			138			Helical; (Potential).		B2R7S1	Silent	SNP	ENST00000374115.3	37	c.414G>C	CCDS7231.1																																																																																				0.632	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047995.1	NM_003055		29	80	0	0	0	0	29	80				
PCDH15	65217	broad.mit.edu	37	10	55566626	55566626	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:55566626C>A	ENST00000373965.2	-	36	5162	c.4768G>T	c.(4768-4770)Gag>Tag	p.E1590*	PCDH15_ENST00000414778.1_Nonsense_Mutation_p.E1587*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACATTCTCCTCATGTGTCACT	0.488										HNSCC(58;0.16)																												uc010qhq.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4762-4764)GAG>TAG		protocadherin 15 isoform CD3-1 precursor							243.0	224.0	230.0					10																	55566626		1568	3582	5150	SO:0001587	stop_gained	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566626C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4768G>T	10.37:g.55566626C>A	ENSP00000363076:p.Glu1590*	HNSCC(58;0.16)				PCDH15_uc010qhr.1_Nonsense_Mutation_p.E1583*	p.E1588*	NM_001142771	NP_001136243	Q96QU1	PCD15_HUMAN			36	5157	-		Melanoma(3;0.117)|Lung SC(717;0.238)	Error:Variant_position_missing_in_Q96QU1_after_alignment					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000373965.2	37	c.4762G>T		.	.	.	.	.	.	.	.	.	.	C	47	13.111926	0.99720	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.4583	0.94904	0.0:1.0:0.0:0.0	.	.	.	.	X	1590;1587;1583	.	ENSP00000363076:E1590X	E	-	1	0	PCDH15	55236632	1.000000	0.71417	0.984000	0.44739	0.992000	0.81027	7.487000	0.81328	2.699000	0.92147	0.655000	0.94253	GAG		0.488	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		18	311	1	0	5.39e-06	5.68e-06	18	311				
PCDH15	65217	broad.mit.edu	37	10	55826607	55826607	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:55826607G>C	ENST00000320301.6	-	18	2524	c.2130C>G	c.(2128-2130)gtC>gtG	p.V710V	PCDH15_ENST00000373957.3_Silent_p.V688V|PCDH15_ENST00000395430.1_Silent_p.V710V|PCDH15_ENST00000395438.1_Silent_p.V710V|PCDH15_ENST00000373955.1_Silent_p.V710V|PCDH15_ENST00000395432.2_Silent_p.V673V|PCDH15_ENST00000414778.1_Silent_p.V715V|PCDH15_ENST00000361849.3_Silent_p.V710V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Silent_p.V639V|PCDH15_ENST00000395433.1_Silent_p.V688V|PCDH15_ENST00000395445.1_Silent_p.V717V|PCDH15_ENST00000373965.2_Silent_p.V717V|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Silent_p.V321V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	710	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CATTGTCATTGACATCTGTCA	0.373										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(2128-2130)GTC>GTG		protocadherin 15 isoform CD1-4 precursor							99.0	91.0	94.0					10																	55826607		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55826607G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.2130C>G	10.37:g.55826607G>C		HNSCC(58;0.16)				PCDH15_uc010qhq.1_Silent_p.V715V|PCDH15_uc010qhr.1_Silent_p.V710V|PCDH15_uc010qhs.1_Silent_p.V722V|PCDH15_uc010qht.1_Silent_p.V717V|PCDH15_uc010qhu.1_Silent_p.V710V|PCDH15_uc001jjv.1_Silent_p.V688V|PCDH15_uc010qhv.1_Silent_p.V710V|PCDH15_uc010qhw.1_Silent_p.V673V|PCDH15_uc010qhx.1_Silent_p.V639V|PCDH15_uc010qhy.1_Silent_p.V715V|PCDH15_uc010qhz.1_Silent_p.V710V|PCDH15_uc010qia.1_Silent_p.V688V|PCDH15_uc010qib.1_Silent_p.V688V|PCDH15_uc001jjw.2_Silent_p.V710V	p.V710V	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			18	2525	-		Melanoma(3;0.117)|Lung SC(717;0.238)	710			Cadherin 6.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.2130C>G	CCDS7248.1																																																																																				0.373	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		16	65	0	0	0	0	16	65				
MYPN	84665	broad.mit.edu	37	10	69934302	69934302	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:69934302C>G	ENST00000358913.5	+	11	2941	c.2453C>G	c.(2452-2454)tCt>tGt	p.S818C	MYPN_ENST00000540630.1_Missense_Mutation_p.S818C|MYPN_ENST00000354393.2_Missense_Mutation_p.S543C	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	818	Pro-rich.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ATTCCTGTCTCTCCTACCAGC	0.567																																						uc001jnm.3		NA																	0				ovary(3)|skin(2)	5						c.(2452-2454)TCT>TGT		myopalladin							114.0	106.0	109.0					10																	69934302		2203	4300	6503	SO:0001583	missense	84665					nucleus|sarcomere	actin binding	g.chr10:69934302C>G	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2453C>G	10.37:g.69934302C>G	ENSP00000351790:p.Ser818Cys					MYPN_uc001jnn.3_Missense_Mutation_p.S543C|MYPN_uc001jno.3_Missense_Mutation_p.S818C|MYPN_uc009xpt.2_Missense_Mutation_p.S818C|MYPN_uc010qit.1_Missense_Mutation_p.S524C|MYPN_uc010qiu.1_RNA	p.S818C	NM_032578	NP_115967	Q86TC9	MYPN_HUMAN			12	2638	+			818			Pro-rich.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	ENST00000358913.5	37	c.2453C>G	CCDS7275.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.612909	0.87258	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.69435	-0.4;-0.23;-0.25	5.86	5.86	0.93980	.	0.112791	0.64402	D	0.000007	T	0.78553	0.4301	L	0.46157	1.445	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.997	T	0.74802	-0.3541	9	.	.	.	.	20.2019	0.98263	0.0:1.0:0.0:0.0	.	818;543;818	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	C	543;543;818;818	ENSP00000346369:S543C;ENSP00000351790:S818C;ENSP00000441668:S818C	.	S	+	2	0	MYPN	69604308	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	7.272000	0.78516	2.776000	0.95493	0.655000	0.94253	TCT		0.567	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		20	67	0	0	0	0	20	67				
VCL	7414	broad.mit.edu	37	10	75855484	75855484	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:75855484G>A	ENST00000211998.4	+	12	1708	c.1614G>A	c.(1612-1614)cgG>cgA	p.R538R	VCL_ENST00000372755.3_Silent_p.R538R|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	538	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GGCCTTATCGGCAAGATCTTC	0.582																																						uc001jwd.2		NA																VCL/ALK(4)	0				kidney(4)|ovary(1)|central_nervous_system(1)	6						c.(1612-1614)CGG>CGA		vinculin isoform meta-VCL							109.0	104.0	106.0					10																	75855484		2203	4300	6503	SO:0001819	synonymous_variant	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75855484G>A	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1614G>A	10.37:g.75855484G>A						VCL_uc009xrr.2_Silent_p.R287R|VCL_uc010qky.1_Silent_p.R445R|VCL_uc001jwe.2_Silent_p.R538R|VCL_uc010qkz.1_Intron	p.R538R	NM_014000	NP_054706	P18206	VINC_HUMAN			12	1708	+	Prostate(51;0.0112)		538			N-terminal globular head.|3.|3 X 112 AA tandem repeats.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Silent	SNP	ENST00000211998.4	37	c.1614G>A	CCDS7341.1																																																																																				0.582	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		4	168	0	0	0	0	4	168				
DLG5	9231	broad.mit.edu	37	10	79581243	79581243	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:79581243G>A	ENST00000372391.2	-	15	3004	c.2999C>T	c.(2998-3000)tCt>tTt	p.S1000F	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1000	Pro-rich.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGGCTGGGGAGAGTGAGCAGG	0.572																																						uc001jzk.2		NA																	0				ovary(5)|breast(3)	8						c.(2998-3000)TCT>TTT		discs large homolog 5							36.0	47.0	43.0					10																	79581243		2127	4184	6311	SO:0001583	missense	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79581243G>A	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.2999C>T	10.37:g.79581243G>A	ENSP00000361467:p.Ser1000Phe					DLG5_uc001jzi.2_5'Flank|DLG5_uc001jzj.2_Intron|DLG5_uc009xru.1_RNA|DLG5_uc001jzl.3_Missense_Mutation_p.S604F	p.S1000F	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		15	3069	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1000			Pro-rich.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	ENST00000372391.2	37	c.2999C>T	CCDS7353.2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232891	0.79688	.	.	ENSG00000151208	ENST00000372391;ENST00000372392	T	0.07327	3.2	5.87	5.87	0.94306	.	0.000000	0.38548	N	0.001647	T	0.26955	0.0660	L	0.58101	1.795	0.80722	D	1	D;D	0.65815	0.995;0.991	D;P	0.63793	0.918;0.83	T	0.00050	-1.2197	10	0.87932	D	0	.	20.2079	0.98282	0.0:0.0:1.0:0.0	.	890;1000	Q8TDM6-4;Q8TDM6	.;DLG5_HUMAN	F	1000;549	ENSP00000361467:S1000F	ENSP00000361467:S1000F	S	-	2	0	DLG5	79251249	1.000000	0.71417	0.963000	0.40424	0.841000	0.47740	9.199000	0.95003	2.781000	0.95711	0.655000	0.94253	TCT		0.572	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			53	108	0	0	0	0	53	108				
ENTPD1	953	broad.mit.edu	37	10	97607402	97607402	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:97607402G>A	ENST00000371205.4	+	7	1296	c.1013G>A	c.(1012-1014)tGc>tAc	p.C338Y	ENTPD1_ENST00000371203.5_Missense_Mutation_p.C200Y|ENTPD1_ENST00000371207.3_Missense_Mutation_p.C350Y|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000453258.2_Missense_Mutation_p.C345Y|ENTPD1_ENST00000543964.1_Missense_Mutation_p.C230Y|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Missense_Mutation_p.C200Y			P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	338					ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		ACCAGTTACTGCCCTTACTCC	0.443																																						uc001klh.3		NA																	0				ovary(3)	3						c.(1012-1014)TGC>TAC		ectonucleoside triphosphate diphosphohydrolase 1							119.0	117.0	118.0					10																	97607402		2203	4300	6503	SO:0001583	missense	953				cell adhesion	integral to plasma membrane	ATP binding	g.chr10:97607402G>A	S73813	CCDS7444.1, CCDS53556.1, CCDS53557.1, CCDS53558.1, CCDS41554.1	10q24.1	2014-03-03			ENSG00000138185	ENSG00000138185		"""CD molecules"""	3363	protein-coding gene	gene with protein product		601752		CD39		9226376, 24482476	Standard	NM_001098175		Approved	NTPDase-1, ATPDase, SPG64	uc010qoj.2	P49961	OTTHUMG00000018818	ENST00000371205.4:c.1013G>A	10.37:g.97607402G>A	ENSP00000360248:p.Cys338Tyr					ENTPD1_uc001kli.3_Missense_Mutation_p.C345Y|uc001klg.1_Intron|ENTPD1_uc010qoj.1_Missense_Mutation_p.C350Y|ENTPD1_uc010qok.1_Missense_Mutation_p.C230Y|ENTPD1_uc010qol.1_Missense_Mutation_p.C230Y|ENTPD1_uc010qom.1_Missense_Mutation_p.C297Y|ENTPD1_uc010qon.1_Missense_Mutation_p.C200Y|ENTPD1_uc009xva.2_Missense_Mutation_p.C200Y|ENTPD1_uc009xuz.2_RNA	p.C338Y	NM_001776	NP_001767	P49961	ENTP1_HUMAN		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)	7	1337	+		Colorectal(252;0.0821)	338			Extracellular (Potential).		A9Z1X8|B4DWB9|B4E1X1|B7Z599|G3XAF6|Q5T561|Q5T562|Q86VV3|Q9UQQ9|Q9Y3Q9	Missense_Mutation	SNP	ENST00000371205.4	37	c.1013G>A	CCDS7444.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645704	0.67358	.	.	ENSG00000138185	ENST00000453258;ENST00000371207;ENST00000543964;ENST00000539125;ENST00000371203;ENST00000371205	T;T;T;T;T;T	0.21543	2.0;2.0;2.0;2.0;2.0;2.0	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.61185	0.2327	H	0.95745	3.715	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.989;1.0	T	0.72087	-0.4396	10	0.87932	D	0	-26.2287	17.8363	0.88699	0.0:0.0:1.0:0.0	.	350;350;345;338	B4DWB9;G3XAF6;P49961-2;P49961	.;.;.;ENTP1_HUMAN	Y	345;350;230;200;200;338	ENSP00000390955:C345Y;ENSP00000360250:C350Y;ENSP00000442968:C230Y;ENSP00000440027:C200Y;ENSP00000360246:C200Y;ENSP00000360248:C338Y	ENSP00000360246:C200Y	C	+	2	0	ENTPD1	97597392	1.000000	0.71417	0.997000	0.53966	0.211000	0.24417	8.907000	0.92634	2.890000	0.99128	0.650000	0.86243	TGC		0.443	ENTPD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049566.1	NM_001776		11	132	0	0	0	0	11	132				
PKD2L1	9033	broad.mit.edu	37	10	102054860	102054860	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:102054860G>A	ENST00000318222.3	-	8	1759	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	PKD2L1_ENST00000353274.3_Silent_p.F459F|PKD2L1_ENST00000338519.3_Silent_p.F384F	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	459					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGGTTTTGTTGAAGCTGATGT	0.502																																						uc001kqx.1		NA																	0				ovary(4)	4						c.(1375-1377)TTC>TTT		polycystic kidney disease 2-like 1							124.0	122.0	122.0					10																	102054860		2203	4300	6503	SO:0001819	synonymous_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102054860G>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1377C>T	10.37:g.102054860G>A						PKD2L1_uc009xwm.1_Silent_p.F412F	p.F459F	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	8	1760	-		Colorectal(252;0.117)	459			Cytoplasmic (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	ENST00000318222.3	37	c.1377C>T	CCDS7492.1																																																																																				0.502	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		26	140	0	0	0	0	26	140				
GSTO1	9446	broad.mit.edu	37	10	106014946	106014946	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:106014946G>A	ENST00000369713.5	+	2	254	c.60G>A	c.(58-60)ccG>ccA	p.P20P	GSTO1_ENST00000493946.1_3'UTR|GSTO1_ENST00000369710.4_Silent_p.P20P|GSTO1_ENST00000539281.1_5'UTR	NM_004832.2	NP_004823.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	20					cellular response to arsenic-containing substance (GO:0071243)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014810)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione dehydrogenase (ascorbate) activity (GO:0045174)|glutathione transferase activity (GO:0004364)|methylarsonate reductase activity (GO:0050610)|oxidoreductase activity (GO:0016491)			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)|Vitamin E(DB00163)	GGCCGGTCCCGGAGGGCTCGA	0.687																																						uc001kya.2		NA																	0					0						c.(58-60)CCG>CCA		glutathione-S-transferase omega 1	Glutathione(DB00143)						31.0	36.0	34.0					10																	106014946		2203	4300	6503	SO:0001819	synonymous_variant	9446				xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity	g.chr10:106014946G>A	AF212303	CCDS7555.1, CCDS53572.1, CCDS53573.1	10q25.1	2012-06-21			ENSG00000148834	ENSG00000148834	2.5.1.18, 1.8.5.1, 1.20.4.2	"""Glutathione S-transferases / Soluble"""	13312	protein-coding gene	gene with protein product		605482				10783391, 12618591	Standard	NM_004832		Approved	GSTTLp28, P28	uc001kya.3	P78417	OTTHUMG00000019001	ENST00000369713.5:c.60G>A	10.37:g.106014946G>A							p.P20P	NM_004832	NP_004823	P78417	GSTO1_HUMAN		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	2	69	+		Colorectal(252;0.102)|Breast(234;0.122)	20					D3DRA3|F5H7H0|Q5TA03|Q7Z3T2	Silent	SNP	ENST00000369713.5	37	c.60G>A	CCDS7555.1																																																																																				0.687	GSTO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050193.1	NM_004832		18	46	0	0	0	0	18	46				
ZRANB1	54764	broad.mit.edu	37	10	126660540	126660540	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:126660540C>G	ENST00000359653.4	+	3	1380	c.1009C>G	c.(1009-1011)Caa>Gaa	p.Q337E		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	337					cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|positive regulation of Wnt signaling pathway (GO:0030177)|protein deubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0071947)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell morphogenesis (GO:0022604)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TAAGGTGTCTCAACAAGCAGC	0.393																																						uc001lic.2		NA																	0				ovary(1)|kidney(1)	2						c.(1009-1011)CAA>GAA		zinc finger, RAN-binding domain containing 1							131.0	129.0	129.0					10																	126660540		2203	4300	6503	SO:0001583	missense	54764				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr10:126660540C>G	AJ252060	CCDS7642.1	10q26.12	2014-02-24			ENSG00000019995	ENSG00000019995		"""Zinc fingers, RAN-binding domain containing"", ""OTU domain containing"""	18224	protein-coding gene	gene with protein product		611749				11463333	Standard	NM_017580		Approved	TRABID	uc001lic.3	Q9UGI0	OTTHUMG00000019223	ENST00000359653.4:c.1009C>G	10.37:g.126660540C>G	ENSP00000352676:p.Gln337Glu					ZRANB1_uc010qug.1_Missense_Mutation_p.Q363E	p.Q337E	NM_017580	NP_060050	Q9UGI0	ZRAN1_HUMAN		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)	3	1380	+		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)	337					B4DZ98|D3DRF4|Q5SQP6|Q69YK3	Missense_Mutation	SNP	ENST00000359653.4	37	c.1009C>G	CCDS7642.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968304	0.53614	.	.	ENSG00000019995	ENST00000359653	T	0.16897	2.31	5.5	5.5	0.81552	.	0.048764	0.85682	N	0.000000	T	0.18425	0.0442	L	0.51422	1.61	0.80722	D	1	P	0.39250	0.665	B	0.31245	0.126	T	0.02064	-1.1220	10	0.52906	T	0.07	-28.76	19.3919	0.94585	0.0:1.0:0.0:0.0	.	337	Q9UGI0	ZRAN1_HUMAN	E	337	ENSP00000352676:Q337E	ENSP00000352676:Q337E	Q	+	1	0	ZRANB1	126650530	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.475000	0.81041	2.595000	0.87683	0.585000	0.79938	CAA		0.393	ZRANB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050898.1	NM_017580		11	77	0	0	0	0	11	77				
CTBP2	1488	broad.mit.edu	37	10	126682516	126682516	+	Silent	SNP	G	G	A	rs185815738	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr10:126682516G>A	ENST00000337195.5	-	8	1218	c.819C>T	c.(817-819)ggC>ggT	p.G273G	CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000309035.6_Silent_p.G813G|CTBP2_ENST00000411419.2_Silent_p.G273G|CTBP2_ENST00000531469.1_Silent_p.G273G	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582																																						uc009yak.2		NA																	0					0						c.(817-819)GGC>GGT		C-terminal binding protein 2 isoform 1							82.0	86.0	85.0					10																	126682516		2203	4300	6503	SO:0001819	synonymous_variant	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126682516G>A	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.819C>T	10.37:g.126682516G>A						CTBP2_uc009yal.2_Silent_p.G273G|CTBP2_uc001lif.3_Silent_p.G273G|CTBP2_uc001lih.3_Silent_p.G273G|CTBP2_uc001lid.3_Silent_p.G341G|CTBP2_uc001lie.3_Silent_p.G813G	p.G273G	NM_001329	NP_001320	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	8	1106	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	273					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Silent	SNP	ENST00000337195.5	37	c.819C>T	CCDS7643.1																																																																																				0.582	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914		4	125	0	0	0	0	4	125				
PKP3	11187	broad.mit.edu	37	11	399093	399093	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:399093C>G	ENST00000331563.2	+	5	1246	c.1170C>G	c.(1168-1170)taC>taG	p.Y390*		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	390					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCATCTACGACAACGCTG	0.597																																						uc001lpc.2		NA																	0				skin(1)	1						c.(1168-1170)TAC>TAG		plakophilin 3							141.0	120.0	127.0					11																	399093		2195	4291	6486	SO:0001587	stop_gained	11187				cell adhesion	desmosome|nucleus	binding	g.chr11:399093C>G	Z98265	CCDS7695.1	11p15	2013-02-14			ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	9025	protein-coding gene	gene with protein product		605561				10374265	Standard	XM_005252760		Approved		uc001lpc.3	Q9Y446	OTTHUMG00000119068	ENST00000331563.2:c.1170C>G	11.37:g.399093C>G	ENSP00000331678:p.Tyr390*						p.Y390*	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	1246	+		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	390			ARM 2.		F8J390|Q53EX8	Nonsense_Mutation	SNP	ENST00000331563.2	37	c.1170C>G	CCDS7695.1	.	.	.	.	.	.	.	.	.	.	c	25.6	4.652968	0.88056	.	.	ENSG00000184363	ENST00000331563	.	.	.	3.83	-0.482	0.12078	.	0.079060	0.52532	D	0.000074	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8412	8.7685	0.34717	0.0:0.4811:0.0:0.5189	.	.	.	.	X	390	.	ENSP00000331678:Y390X	Y	+	3	2	PKP3	389093	0.000000	0.05858	0.961000	0.40146	0.553000	0.35397	-1.862000	0.01653	-0.337000	0.08426	-0.348000	0.07805	TAC		0.597	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1	NM_007183		15	37	0	0	0	0	15	37				
UBQLN3	50613	broad.mit.edu	37	11	5529406	5529406	+	Silent	SNP	A	A	G	rs372659278		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:5529406A>G	ENST00000311659.4	-	2	1530	c.1383T>C	c.(1381-1383)tcT>tcC	p.S461S	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_5'Flank|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	461										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGGGAAAAAGATAAGGGAG	0.547																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1		NA																	0				ovary(3)	3						c.(1381-1383)TCT>TCC		ubiquilin 3							68.0	76.0	74.0					11																	5529406		2201	4297	6498	SO:0001819	synonymous_variant	50613							g.chr11:5529406A>G	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1383T>C	11.37:g.5529406A>G						HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	p.S461S	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1469	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	461					Q9NRE0	Silent	SNP	ENST00000311659.4	37	c.1383T>C	CCDS7758.1																																																																																				0.547	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		9	53	0	0	0	0	9	53				
SOX6	55553	broad.mit.edu	37	11	16007886	16007886	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:16007886C>T	ENST00000352083.6	-	15	2124	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	SOX6_ENST00000316399.6_Missense_Mutation_p.E663K|SOX6_ENST00000528429.1_Missense_Mutation_p.E683K|SOX6_ENST00000528252.1_Missense_Mutation_p.E656K|SOX6_ENST00000396356.3_Missense_Mutation_p.E663K|SOX6_ENST00000527619.1_Missense_Mutation_p.E659K			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	683					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GGGTACTTCTCTAAGTGGATC	0.443																																						uc001mme.2		NA																	0				ovary(3)	3						c.(2086-2088)GAG>AAG		SRY (sex determining region Y)-box 6 isoform 4							185.0	181.0	183.0					11																	16007886		2200	4294	6494	SO:0001583	missense	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16007886C>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.2047G>A	11.37:g.16007886C>T	ENSP00000339876:p.Glu683Lys					SOX6_uc001mmd.2_Missense_Mutation_p.E659K|SOX6_uc001mmf.2_Missense_Mutation_p.E656K|SOX6_uc001mmg.2_Missense_Mutation_p.E663K	p.E696K	NM_001145819	NP_001139291	P35712	SOX6_HUMAN			15	2119	-			683			HMG box.		Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Missense_Mutation	SNP	ENST00000352083.6	37	c.2086G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.225275	0.95173	.	.	ENSG00000110693	ENST00000316399;ENST00000352083;ENST00000396356;ENST00000528252;ENST00000527619;ENST00000528429	D;D;D;D;D;D	0.97620	-4.46;-4.46;-4.46;-4.46;-4.46;-4.46	5.6	5.6	0.85130	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.96744	0.8937	N	0.13299	0.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.91635	0.999;0.999;0.979	D	0.97760	1.0220	10	0.52906	T	0.07	.	19.6107	0.95606	0.0:1.0:0.0:0.0	.	663;683;659	P35712-3;P35712;P35712-2	.;SOX6_HUMAN;.	K	663;683;663;656;659;683	ENSP00000324948:E663K;ENSP00000339876:E683K;ENSP00000379644:E663K;ENSP00000432134:E656K;ENSP00000434455:E659K;ENSP00000433233:E683K	ENSP00000324948:E663K	E	-	1	0	SOX6	15964462	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.648000	0.89879	0.655000	0.94253	GAG		0.443	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		49	122	0	0	0	0	49	122				
DGKZ	8525	broad.mit.edu	37	11	46394220	46394220	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:46394220A>G	ENST00000454345.1	+	13	1753	c.1628A>G	c.(1627-1629)gAc>gGc	p.D543G	DGKZ_ENST00000395574.3_Missense_Mutation_p.D321G|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000528615.1_Missense_Mutation_p.D133G|DGKZ_ENST00000456247.2_Missense_Mutation_p.D354G|DGKZ_ENST00000318201.8_Missense_Mutation_p.D332G|DGKZ_ENST00000421244.2_Missense_Mutation_p.D355G|DGKZ_ENST00000527911.1_Missense_Mutation_p.D355G|DGKZ_ENST00000532868.2_Missense_Mutation_p.D359G|DGKZ_ENST00000343674.6_Missense_Mutation_p.D371G	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	543	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.|Mediates interaction with RASGRP1.				blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		TGCGGGGGCGACGGCACGGTG	0.662																																						uc001ncn.1		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(1627-1629)GAC>GGC		diacylglycerol kinase zeta isoform 4							44.0	41.0	42.0					11																	46394220		2202	4299	6501	SO:0001583	missense	8525				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding	g.chr11:46394220A>G	U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1628A>G	11.37:g.46394220A>G	ENSP00000412178:p.Asp543Gly					DGKZ_uc001nch.1_Missense_Mutation_p.D371G|DGKZ_uc010rgq.1_Missense_Mutation_p.D298G|DGKZ_uc001ncj.1_Missense_Mutation_p.D321G|DGKZ_uc010rgr.1_Missense_Mutation_p.D320G|DGKZ_uc001nck.1_Missense_Mutation_p.D133G|DGKZ_uc001ncl.2_Missense_Mutation_p.D355G|DGKZ_uc001ncm.2_Missense_Mutation_p.D354G|DGKZ_uc009yky.1_Missense_Mutation_p.D355G|DGKZ_uc010rgs.1_Missense_Mutation_p.D332G	p.D543G	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN		GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)	13	1753	+			543			DAGKc.|Mediates interaction with RASGRP1.		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	ENST00000454345.1	37	c.1628A>G	CCDS41640.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.580376	0.86645	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	D;D;D;D;D;D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1;-2.1	4.02	4.02	0.46733	Diacylglycerol kinase, catalytic domain (3);	0.047608	0.85682	D	0.000000	D	0.96059	0.8716	H	0.99026	4.405	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.998;0.999;1.0;0.999;0.997;0.999;0.999	D	0.97334	0.9952	10	0.87932	D	0	.	13.4166	0.60972	1.0:0.0:0.0:0.0	.	332;320;298;355;543;354;355;321;371	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	G	371;133;321;320;355;354;355;332;543	ENSP00000343065:D371G;ENSP00000434719:D133G;ENSP00000378941:D321G;ENSP00000436273:D320G;ENSP00000436291:D355G;ENSP00000395684:D354G;ENSP00000391021:D355G;ENSP00000320340:D332G;ENSP00000412178:D543G	ENSP00000320340:D332G	D	+	2	0	DGKZ	46350796	1.000000	0.71417	0.845000	0.33349	0.964000	0.63967	7.108000	0.77055	1.832000	0.53329	0.383000	0.25322	GAC		0.662	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389772.1	NM_001105540		13	24	0	0	0	0	13	24				
AGBL2	79841	broad.mit.edu	37	11	47698947	47698947	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:47698947G>C	ENST00000525123.1	-	14	2308	c.2023C>G	c.(2023-2025)Cag>Gag	p.Q675E	AGBL2_ENST00000357610.3_Missense_Mutation_p.Q675E|AGBL2_ENST00000298861.4_Missense_Mutation_p.Q675E|AGBL2_ENST00000529712.1_Intron|AGBL2_ENST00000528244.1_Missense_Mutation_p.Q637E	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	675						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GCTAGACACTGAGTGAACTAT	0.318																																						uc001ngg.2		NA																	0				ovary(2)	2						c.(2023-2025)CAG>GAG		carboxypeptidase 2, cytosolic							73.0	66.0	68.0					11																	47698947		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47698947G>C		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.2023C>G	11.37:g.47698947G>C	ENSP00000435582:p.Gln675Glu					AGBL2_uc001ngf.2_RNA|AGBL2_uc010rhq.1_Missense_Mutation_p.Q637E|AGBL2_uc001ngh.1_Intron	p.Q675E	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN			13	2123	-			675					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.2023C>G	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987868	0.35036	.	.	ENSG00000165923	ENST00000528609;ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	6.03	5.1	0.69264	.	0.403040	0.25283	N	0.031798	T	0.12305	0.0299	M	0.66939	2.045	0.27842	N	0.941059	B;B	0.31790	0.34;0.23	B;B	0.26517	0.07;0.032	T	0.13098	-1.0522	10	0.45353	T	0.12	-8.8982	8.8851	0.35398	0.0747:0.0:0.7746:0.1508	.	637;675	F6U0I4;Q5U5Z8	.;CBPC2_HUMAN	E	58;675;675;675;637	ENSP00000435582:Q675E;ENSP00000350228:Q675E;ENSP00000298861:Q675E;ENSP00000436630:Q637E	ENSP00000298861:Q675E	Q	-	1	0	AGBL2	47655523	0.996000	0.38824	0.982000	0.44146	0.954000	0.61252	2.524000	0.45589	1.520000	0.48965	0.555000	0.69702	CAG		0.318	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		6	34	0	0	0	0	6	34				
FOLH1	2346	broad.mit.edu	37	11	49186311	49186311	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:49186311C>T	ENST00000256999.2	-	13	1646	c.1386G>A	c.(1384-1386)ctG>ctA	p.L462L	FOLH1_ENST00000533034.1_Silent_p.L447L|FOLH1_ENST00000343844.4_Silent_p.L154L|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000356696.3_Silent_p.L462L|FOLH1_ENST00000340334.7_Silent_p.L447L	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	462	NAALADase.				folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	AATCAACTCTCAGAGTGTAGT	0.294																																						uc001ngy.2		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1384-1386)CTG>CTA		folate hydrolase 1 isoform 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						35.0	36.0	36.0					11																	49186311		2198	4294	6492	SO:0001819	synonymous_variant	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49186311C>T	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.1386G>A	11.37:g.49186311C>T						FOLH1_uc001ngz.2_Silent_p.L462L|FOLH1_uc009yly.2_Silent_p.L447L|FOLH1_uc009ylz.2_Silent_p.L447L|FOLH1_uc009yma.2_Silent_p.L154L	p.L462L	NM_004476	NP_004467	Q04609	FOLH1_HUMAN			13	1647	-			462			NAALADase.|Extracellular (Probable).		A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	c.1386G>A	CCDS7946.1																																																																																				0.294	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		8	24	0	0	0	0	8	24				
OR4A5	81318	broad.mit.edu	37	11	51411717	51411717	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:51411717G>A	ENST00000319760.6	-	1	731	c.679C>T	c.(679-681)Cag>Tag	p.Q227*		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTCTTTTCCTGACTGTAAGTT	0.423																																						uc001nhi.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(679-681)CAG>TAG		olfactory receptor, family 4, subfamily A,							63.0	63.0	63.0					11																	51411717		2201	4295	6496	SO:0001587	stop_gained	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411717G>A	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.679C>T	11.37:g.51411717G>A	ENSP00000367664:p.Gln227*						p.Q227*	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	679	-		all_lung(304;0.236)	227			Cytoplasmic (Potential).		Q6IF84	Nonsense_Mutation	SNP	ENST00000319760.6	37	c.679C>T	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	2.972	-0.212205	0.06140	.	.	ENSG00000221840	ENST00000319760	.	.	.	1.93	1.93	0.25924	.	0.817698	0.10207	N	0.702501	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	9.9079	0.41388	0.0:0.0:1.0:0.0	.	.	.	.	X	227	.	ENSP00000367664:Q227X	Q	-	1	0	OR4A5	51268293	0.000000	0.05858	0.700000	0.30305	0.063000	0.16089	-0.423000	0.07034	1.394000	0.46624	0.162000	0.16502	CAG		0.423	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		8	88	0	0	0	0	8	88				
INCENP	3619	broad.mit.edu	37	11	61906207	61906207	+	Missense_Mutation	SNP	G	G	A	rs140202170		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:61906207G>A	ENST00000394818.3	+	6	1340	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	INCENP_ENST00000278849.4_Missense_Mutation_p.E380K	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	380					chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	central element (GO:0000801)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lateral element (GO:0000800)|microtubule (GO:0005874)|midbody (GO:0030496)|pericentric heterochromatin (GO:0005721)|protein complex (GO:0043234)|spindle (GO:0005819)				breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGAACCCCCCGAGGAGGCTGA	0.632																																						uc001nsw.1		NA																	0				lung(1)	1						c.(1138-1140)GAG>AAG		inner centromere protein antigens 135/155kDa		G	LYS/GLU,LYS/GLU	1,4403	2.1+/-5.4	0,1,2201	47.0	52.0	50.0		1138,1138	-9.6	0.0	11	dbSNP_134	50	1,8597	2.2+/-6.3	0,1,4298	yes	missense,missense	INCENP	NM_020238.2,NM_001040694.1	56,56	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	benign,benign	380/915,380/919	61906207	2,13000	2202	4299	6501	SO:0001583	missense	3619				chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding	g.chr11:61906207G>A	AF282265	CCDS31582.1, CCDS44624.1	11q12.3	2013-01-17	2002-08-29		ENSG00000149503	ENSG00000149503			6058	protein-coding gene	gene with protein product		604411	"""inner centromere protein antigens (135kD, 155kD)"""			1860899, 11453556	Standard	NM_001040694		Approved	FLJ31633	uc001nsw.1	Q9NQS7	OTTHUMG00000167470	ENST00000394818.3:c.1138G>A	11.37:g.61906207G>A	ENSP00000378295:p.Glu380Lys					INCENP_uc009ynw.1_Missense_Mutation_p.E380K|INCENP_uc001nsx.1_Missense_Mutation_p.E380K	p.E380K	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN			6	1340	+			380					A8MQD2|Q5Y192	Missense_Mutation	SNP	ENST00000394818.3	37	c.1138G>A	CCDS44624.1	.	.	.	.	.	.	.	.	.	.	G	6.957	0.546496	0.13312	2.27E-4	1.16E-4	ENSG00000149503	ENST00000394818;ENST00000278849	T;T	0.15603	2.41;2.41	4.82	-9.63	0.00544	.	1.226820	0.05751	N	0.603179	T	0.07052	0.0179	N	0.17474	0.49	0.09310	N	1	B;B;B	0.22480	0.07;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.25152	-1.0140	10	0.08381	T	0.77	.	8.3531	0.32314	0.1679:0.1081:0.6174:0.1066	.	380;380;380	B3KPD3;Q9NQS7-2;Q9NQS7	.;.;INCE_HUMAN	K	380	ENSP00000378295:E380K;ENSP00000278849:E380K	ENSP00000278849:E380K	E	+	1	0	INCENP	61662783	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.578000	0.00425	-2.739000	0.00380	-0.345000	0.07892	GAG		0.632	INCENP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000394723.2	NM_020238		13	47	0	0	0	0	13	47				
OTUB1	55611	broad.mit.edu	37	11	63764101	63764101	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:63764101G>A	ENST00000538426.1	+	4	363	c.319G>A	c.(319-321)Gac>Aac	p.D107N	OTUB1_ENST00000428192.2_Missense_Mutation_p.D107N|OTUB1_ENST00000422031.2_Missense_Mutation_p.D144N|OTUB1_ENST00000535715.1_Missense_Mutation_p.D107N|OTUB1_ENST00000543004.1_Missense_Mutation_p.D116N|OTUB1_ENST00000543988.1_Missense_Mutation_p.D77N|OTUB1_ENST00000541478.1_Intron	NM_017670.2	NP_060140.2	Q96FW1	OTUB1_HUMAN	OTU deubiquitinase, ubiquitin aldehyde binding 1	107	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|immune system process (GO:0002376)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein K48-linked deubiquitination (GO:0071108)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	NEDD8-specific protease activity (GO:0019784)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						ACTGCTGGATGACAGCAAGGA	0.592																																						uc001nyf.1		NA																	0				breast(1)	1						c.(319-321)GAC>AAC		otubain 1							80.0	64.0	69.0					11																	63764101		2201	4297	6498	SO:0001583	missense	55611				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity	g.chr11:63764101G>A	AY177200	CCDS8055.1	11q13.1	2014-02-24	2014-02-24			ENSG00000167770		"""OTU domain containing"""	23077	protein-coding gene	gene with protein product		608337	"""OTU domain, ubiquitin aldehyde binding 1"""			12704427, 19383985	Standard	NM_017670		Approved	FLJ20113, FLJ40710	uc001nyf.1	Q96FW1		ENST00000538426.1:c.319G>A	11.37:g.63764101G>A	ENSP00000444357:p.Asp107Asn					OTUB1_uc001nyg.1_Missense_Mutation_p.M80I|OTUB1_uc010rmz.1_Missense_Mutation_p.D144N|OTUB1_uc010rna.1_Missense_Mutation_p.M46I|OTUB1_uc009ypa.2_Intron|OTUB1_uc009ypb.1_Missense_Mutation_p.D77N	p.D107N	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN			4	923	+			107			OTU.		Q32Q78|Q96II3|Q9NXQ4|Q9P0B8	Missense_Mutation	SNP	ENST00000538426.1	37	c.319G>A	CCDS8055.1	.	.	.	.	.	.	.	.	.	.	G	12.99	2.103969	0.37145	.	.	ENSG00000167770	ENST00000535715;ENST00000428192;ENST00000422031;ENST00000538426;ENST00000543004;ENST00000543988	T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91	4.28	4.28	0.50868	Ovarian tumour, otubain (1);	.	.	.	.	T	0.31167	0.0788	L	0.31526	0.94	0.54753	D	0.999983	B;B	0.16166	0.016;0.006	B;B	0.19946	0.027;0.004	T	0.07158	-1.0787	9	0.19147	T	0.46	.	14.0903	0.64984	0.0:0.0:1.0:0.0	.	144;107	B4DPD5;Q96FW1	.;OTUB1_HUMAN	N	107;107;144;107;116;77	ENSP00000440211:D107N;ENSP00000402551:D107N;ENSP00000416973:D144N;ENSP00000444357:D107N;ENSP00000437453:D116N;ENSP00000441328:D77N	ENSP00000416973:D144N	D	+	1	0	OTUB1	63520677	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.848000	0.69458	2.375000	0.81037	0.462000	0.41574	GAC		0.592	OTUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396277.1	NM_017670		17	56	0	0	0	0	17	56				
PACS1	55690	broad.mit.edu	37	11	66009032	66009032	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:66009032C>T	ENST00000320580.4	+	22	2597	c.2564C>T	c.(2563-2565)tCa>tTa	p.S855L	PACS1_ENST00000524815.1_5'UTR|PACS1_ENST00000529757.1_Missense_Mutation_p.S391L	NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	855					protein targeting to Golgi (GO:0000042)|protein targeting to plasma membrane (GO:0072661)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	COPI-coated vesicle (GO:0030137)|cytosol (GO:0005829)	ion channel binding (GO:0044325)		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GTCTTCCGCTCAGTGCAGGTG	0.602																																						uc001oha.1		NA																	0				ovary(6)	6						c.(2563-2565)TCA>TTA		phosphofurin acidic cluster sorting protein 1							93.0	73.0	80.0					11																	66009032		2200	4295	6495	SO:0001583	missense	55690				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding	g.chr11:66009032C>T	AB033001	CCDS8129.1	11q13.1-q13.2	2008-02-05			ENSG00000175115	ENSG00000175115			30032	protein-coding gene	gene with protein product		607492				12855553, 14608369	Standard	NM_018026		Approved	FLJ10209, KIAA1175	uc001oha.2	Q6VY07	OTTHUMG00000166889	ENST00000320580.4:c.2564C>T	11.37:g.66009032C>T	ENSP00000316454:p.Ser855Leu					PACS1_uc010rou.1_Missense_Mutation_p.S391L	p.S855L	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN			22	2698	+			855					Q6PJY6|Q6PKB6|Q7Z590|Q7Z5W4|Q8N8K6|Q96MW0|Q9NW92|Q9ULP5	Missense_Mutation	SNP	ENST00000320580.4	37	c.2564C>T	CCDS8129.1	.	.	.	.	.	.	.	.	.	.	C	36	5.659094	0.96734	.	.	ENSG00000175115	ENST00000320580;ENST00000529757	T;T	0.48201	0.82;0.82	5.42	5.42	0.78866	.	0.060134	0.64402	D	0.000001	T	0.70159	0.3192	M	0.75615	2.305	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.72257	-0.4346	10	0.66056	D	0.02	-8.5714	18.3799	0.90446	0.0:1.0:0.0:0.0	.	855	Q6VY07	PACS1_HUMAN	L	855;391	ENSP00000316454:S855L;ENSP00000432858:S391L	ENSP00000316454:S855L	S	+	2	0	PACS1	65765608	1.000000	0.71417	0.979000	0.43373	0.976000	0.68499	6.022000	0.70839	2.720000	0.93068	0.655000	0.94253	TCA		0.602	PACS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391690.2	NM_018026		13	74	0	0	0	0	13	74				
PITPNM1	9600	broad.mit.edu	37	11	67271646	67271646	+	Silent	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:67271646G>T	ENST00000534749.1	-	1	194	c.6C>A	c.(4-6)ctC>ctA	p.L2L	PITPNM1_ENST00000356404.3_Silent_p.L2L|PITPNM1_ENST00000436757.2_Silent_p.L2L			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	2					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ATTCCTTGATGAGCATCCTGA	0.706																																					GBM(28;144 709 4607 5525)	uc001olx.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(4-6)CTC>CTA		phosphatidylinositol transfer protein,							41.0	33.0	36.0					11																	67271646		2198	4291	6489	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67271646G>T	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.6C>A	11.37:g.67271646G>T						PITPNM1_uc001oly.2_Silent_p.L2L|PITPNM1_uc001olz.2_Silent_p.L2L	p.L2L	NM_004910	NP_004901	O00562	PITM1_HUMAN			1	195	-			2					A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.6C>A	CCDS31620.1																																																																																				0.706	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		7	35	1	0	1.77e-08	1.89e-08	7	35				
TCIRG1	10312	broad.mit.edu	37	11	67818101	67818101	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:67818101C>A	ENST00000265686.3	+	19	2492	c.2384C>A	c.(2383-2385)tCa>tAa	p.S795*	TCIRG1_ENST00000532635.1_Nonsense_Mutation_p.S579*|TCIRG1_ENST00000530802.1_Intron|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA|CHKA_ENST00000533728.1_5'Flank|RP11-802E16.3_ENST00000534517.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	795					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GAGGGACTCTCAGCCTTCCTG	0.662																																						uc001one.2		NA																	0				ovary(1)	1						c.(2383-2385)TCA>TAA		T-cell, immune regulator 1 isoform a							112.0	108.0	109.0					11																	67818101		2200	4294	6494	SO:0001587	stop_gained	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67818101C>A	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.2384C>A	11.37:g.67818101C>A	ENSP00000265686:p.Ser795*					TCIRG1_uc001ong.2_Nonsense_Mutation_p.S579*|TCIRG1_uc001onh.2_Nonsense_Mutation_p.S497*|TCIRG1_uc001oni.2_Nonsense_Mutation_p.S299*|TCIRG1_uc009ysd.2_Intron	p.S795*	NM_006019	NP_006010	Q13488	VPP3_HUMAN			19	2492	+			795			Cytoplasmic (Potential).		O75877|Q8WVC5	Nonsense_Mutation	SNP	ENST00000265686.3	37	c.2384C>A	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	C	43	9.867776	0.99284	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	.	.	.	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7968	15.7087	0.77606	0.0:1.0:0.0:0.0	.	.	.	.	X	795;579	.	ENSP00000265686:S795X	S	+	2	0	TCIRG1	67574677	1.000000	0.71417	0.948000	0.38648	0.854000	0.48673	7.433000	0.80362	2.344000	0.79699	0.462000	0.41574	TCA		0.662	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1	NM_006019		31	99	1	0	8.74e-17	9.53e-17	31	99				
LRP5	4041	broad.mit.edu	37	11	68197131	68197131	+	Silent	SNP	C	C	G	rs201107260		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:68197131C>G	ENST00000294304.7	+	17	3832	c.3726C>G	c.(3724-3726)gtC>gtG	p.V1242V		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1242	EGF-like 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATGCCCAGTCCACCTCGTGC	0.582																																						uc001ont.2		NA																	0				lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(3724-3726)GTC>GTG		low density lipoprotein receptor-related protein							151.0	111.0	125.0					11																	68197131		2200	4294	6494	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68197131C>G	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3726C>G	11.37:g.68197131C>G						LRP5_uc009ysg.2_Silent_p.V652V	p.V1242V	NM_002335	NP_002326	O75197	LRP5_HUMAN			17	3801	+			1242			EGF-like 4.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.3726C>G	CCDS8181.1																																																																																				0.582	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	NM_002335		16	101	0	0	0	0	16	101				
ARHGEF17	9828	broad.mit.edu	37	11	73068155	73068155	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:73068155C>T	ENST00000263674.3	+	8	4327	c.3977C>T	c.(3976-3978)tCc>tTc	p.S1326F	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1326					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AAGTCAGGCTCCCTGCGGCGC	0.632																																						uc001otu.2		NA																	0					0						c.(3976-3978)TCC>TTC		Rho guanine nucleotide exchange factor (GEF) 17							78.0	66.0	70.0					11																	73068155		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73068155C>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3977C>T	11.37:g.73068155C>T	ENSP00000263674:p.Ser1326Phe						p.S1326F	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			8	3998	+			1326					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.3977C>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863330	0.91511	.	.	ENSG00000110237	ENST00000263674	T	0.35789	1.29	5.33	5.33	0.75918	Pleckstrin homology-type (1);	0.122857	0.56097	D	0.000023	T	0.57344	0.2047	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.59862	-0.7374	10	0.87932	D	0	-19.5325	18.0052	0.89207	0.0:1.0:0.0:0.0	.	1326	Q96PE2	ARHGH_HUMAN	F	1326	ENSP00000263674:S1326F	ENSP00000263674:S1326F	S	+	2	0	ARHGEF17	72745803	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	7.797000	0.85911	2.491000	0.84063	0.491000	0.48974	TCC		0.632	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786		10	87	0	0	0	0	10	87				
TSKU	25987	broad.mit.edu	37	11	76507546	76507546	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:76507546G>A	ENST00000527881.1	+	2	1912	c.886G>A	c.(886-888)Gag>Aag	p.E296K	TSKU_ENST00000333090.4_Missense_Mutation_p.E296K			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	296					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCCCTGCCTGAGGCGCTGCT	0.692																																						uc001oxt.2		NA																	0					0						c.(886-888)GAG>AAG		tsukushin precursor							24.0	26.0	26.0					11																	76507546		2193	4285	6478	SO:0001583	missense	25987					extracellular region		g.chr11:76507546G>A	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.886G>A	11.37:g.76507546G>A	ENSP00000434847:p.Glu296Lys						p.E296K	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN			2	1058	+	Ovarian(111;0.112)		296			LRR 10.		B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	Missense_Mutation	SNP	ENST00000527881.1	37	c.886G>A	CCDS8246.1	.	.	.	.	.	.	.	.	.	.	G	0.035	-1.309777	0.01342	.	.	ENSG00000182704	ENST00000333090;ENST00000439807;ENST00000527881	T;T	0.04603	3.59;3.59	4.64	4.64	0.57946	.	0.490790	0.23519	N	0.047303	T	0.02888	0.0086	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.46789	-0.9166	10	0.11182	T	0.66	-12.8699	7.5683	0.27892	0.184:0.0:0.816:0.0	.	296	Q8WUA8	TSK_HUMAN	K	296;264;296	ENSP00000332668:E296K;ENSP00000434847:E296K	ENSP00000332668:E296K	E	+	1	0	TSKU	76185194	0.415000	0.25416	0.738000	0.30950	0.029000	0.11900	2.505000	0.45424	2.289000	0.77006	0.561000	0.74099	GAG		0.692	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382871.1	NM_015516		5	56	0	0	0	0	5	56				
NAALAD2	10003	broad.mit.edu	37	11	89891330	89891330	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:89891330G>C	ENST00000534061.1	+	7	1044	c.814G>C	c.(814-816)Gat>Cat	p.D272H	NAALAD2_ENST00000321955.4_Missense_Mutation_p.D272H|NAALAD2_ENST00000525171.1_Intron|NAALAD2_ENST00000375944.3_Intron	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	272	NAALADase.				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)				TTTCAGACTTGATGTTGAAGA	0.328																																						uc001pdf.3		NA																	0				pancreas(1)|skin(1)	2						c.(814-816)GAT>CAT		N-acetylated alpha-linked acidic dipeptidase 2							104.0	111.0	109.0					11																	89891330		2201	4299	6500	SO:0001583	missense	10003				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity	g.chr11:89891330G>C	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.814G>C	11.37:g.89891330G>C	ENSP00000432481:p.Asp272His					NAALAD2_uc009yvx.2_Missense_Mutation_p.D272H|NAALAD2_uc009yvy.2_Intron|NAALAD2_uc001pdd.2_Missense_Mutation_p.D272H|NAALAD2_uc001pde.2_Intron	p.D272H	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN			7	923	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)	272			Extracellular (Potential).|NAALADase.		B3KQR4|Q4KKV4|Q4VAM9	Missense_Mutation	SNP	ENST00000534061.1	37	c.814G>C	CCDS8288.1	.	.	.	.	.	.	.	.	.	.	G	7.270	0.607019	0.14002	.	.	ENSG00000077616	ENST00000534061;ENST00000321955	T;T	0.48201	0.82;0.82	5.13	1.89	0.25635	.	0.730824	0.13045	N	0.418245	T	0.46288	0.1385	M	0.70787	2.145	0.31271	N	0.691747	B;B	0.30542	0.138;0.284	B;B	0.35413	0.065;0.202	T	0.48768	-0.9006	9	.	.	.	-4.302	7.0637	0.25139	0.2221:0.1484:0.6295:0.0	.	272;272	Q9Y3Q0;Q8IUX3	NALD2_HUMAN;.	H	272	ENSP00000432481:D272H;ENSP00000320083:D272H	.	D	+	1	0	NAALAD2	89530978	0.641000	0.27251	0.997000	0.53966	0.359000	0.29487	1.968000	0.40500	0.136000	0.18733	-0.495000	0.04643	GAT		0.328	NAALAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389424.2	NM_005467		55	168	0	0	0	0	55	168				
ZW10	9183	broad.mit.edu	37	11	113614714	113614714	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:113614714C>T	ENST00000200135.3	-	10	1465	c.1321G>A	c.(1321-1323)Gag>Aag	p.E441K		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	441					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TTGTTATCCTCATCAGGAGTG	0.333																																						uc001poe.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1321-1323)GAG>AAG		centromere/kinetochore protein zw10							154.0	136.0	142.0					11																	113614714		2201	4296	6497	SO:0001583	missense	9183				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	g.chr11:113614714C>T	U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1321G>A	11.37:g.113614714C>T	ENSP00000200135:p.Glu441Lys					ZW10_uc009yyv.2_RNA	p.E441K	NM_004724	NP_004715	O43264	ZW10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)	10	1358	-		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)	441					A1A528	Missense_Mutation	SNP	ENST00000200135.3	37	c.1321G>A	CCDS8363.1	.	.	.	.	.	.	.	.	.	.	C	6.735	0.504438	0.12822	.	.	ENSG00000086827	ENST00000200135	T	0.42513	0.97	4.85	2.88	0.33553	.	1.074830	0.07144	N	0.847825	T	0.29817	0.0745	L	0.40543	1.245	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32214	-0.9915	10	0.07325	T	0.83	-2.1111	5.9522	0.19253	0.0:0.6503:0.1587:0.1909	.	441	O43264	ZW10_HUMAN	K	441	ENSP00000200135:E441K	ENSP00000200135:E441K	E	-	1	0	ZW10	113119924	0.000000	0.05858	0.018000	0.16275	0.860000	0.49131	-0.035000	0.12205	1.087000	0.41251	0.460000	0.39030	GAG		0.333	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		15	47	0	0	0	0	15	47				
ZPR1	8882	broad.mit.edu	37	11	116649676	116649676	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:116649676C>G	ENST00000227322.3	-	14	1404	c.1345G>C	c.(1345-1347)Gag>Cag	p.E449Q		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN		449					apoptotic process involved in development (GO:1902742)|axon development (GO:0061564)|Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA endoreduplication (GO:0042023)|inner cell mass cell proliferation (GO:0001833)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of motor neuron apoptotic process (GO:2000672)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of RNA splicing (GO:0033120)|positive regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071931)|pre-mRNA catabolic process (GO:1990261)|regulation of myelination (GO:0031641)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|trophectodermal cell proliferation (GO:0001834)	axon (GO:0030424)|Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|SMN complex (GO:0032797)	translation initiation factor binding (GO:0031369)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TCATAGCCCTCTGTCTTCATG	0.522																																						uc001ppp.2		NA																	0					0						c.(1345-1347)GAG>CAG		zinc finger protein 259							134.0	103.0	114.0					11																	116649676		2201	4296	6497	SO:0001583	missense	8882				cell proliferation|signal transduction	cytoplasm|nucleolus		g.chr11:116649676C>G																												ENST00000227322.3:c.1345G>C	11.37:g.116649676C>G	ENSP00000227322:p.Glu449Gln					ZNF259_uc009yzd.2_Missense_Mutation_p.E420Q|ZNF259_uc001ppq.2_Missense_Mutation_p.E379Q	p.E449Q	NM_003904	NP_003895	O75312	ZPR1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)	14	1378	-	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)	449					Q2TAA0	Missense_Mutation	SNP	ENST00000227322.3	37	c.1345G>C	CCDS8375.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	26.9|26.9|26.9	4.785374|4.785374|4.785374	0.90282|0.90282|0.90282	.|.|.	.|.|.	ENSG00000109917|ENSG00000109917|ENSG00000109917	ENST00000227322|ENST00000444935|ENST00000429220	T|.|.	0.58506|.|.	0.33|.|.	5.54|5.54|5.54	4.63|4.63|4.63	0.57726|0.57726|0.57726	Zinc finger, ZPR1-type (1);|.|.	0.043946|.|.	0.85682|.|.	D|.|.	0.000000|.|.	D|D|D	0.84790|0.84790|0.84790	0.5550|0.5550|0.5550	M|M|M	0.93241|0.93241|0.93241	3.395|3.395|3.395	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D|.|.	0.89917|.|.	1.0;1.0|.|.	D;D|.|.	0.87578|.|.	0.998;0.998|.|.	D|D|D	0.88849|0.88849|0.88849	0.3318|0.3318|0.3318	10|5|5	0.87932|.|.	D|.|.	0|.|.	-23.5502|-23.5502|-23.5502	14.2386|14.2386|14.2386	0.65943|0.65943|0.65943	0.0:0.9281:0.0:0.0719|0.0:0.9281:0.0:0.0719|0.0:0.9281:0.0:0.0719	.|.|.	398;449|.|.	B4DVT8;O75312|.|.	.;ZPR1_HUMAN|.|.	Q|H|T	449|419|375	ENSP00000227322:E449Q|.|.	ENSP00000227322:E449Q|.|.	E|Q|R	-|-|-	1|3|2	0|2|0	ZNF259|ZNF259|ZNF259	116154886|116154886|116154886	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.956000|0.956000|0.956000	0.39512|0.39512|0.39512	0.951000|0.951000|0.951000	0.60555|0.60555|0.60555	7.395000|7.395000|7.395000	0.79876|0.79876|0.79876	1.338000|1.338000|1.338000	0.45544|0.45544|0.45544	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|CAG|AGA		0.522	ZNF259-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106283.2			17	61	0	0	0	0	17	61				
BACE1	23621	broad.mit.edu	37	11	117186311	117186311	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:117186311C>G	ENST00000313005.6	-	1	661	c.201G>C	c.(199-201)ctG>ctC	p.L67L	BACE1_ENST00000528053.1_Silent_p.L67L|BACE1_ENST00000428381.2_Silent_p.L67L|AP000892.4_ENST00000504906.1_RNA|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Silent_p.L67L|BACE1_ENST00000445823.2_Silent_p.L67L	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	67					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		ACTTGCCCCTCAGGTTGTCCA	0.711																																						uc001pqz.2		NA																	0				ovary(1)	1						c.(199-201)CTG>CTC		beta-site APP-cleaving enzyme 1 isoform A							49.0	47.0	47.0					11																	117186311		2201	4296	6497	SO:0001819	synonymous_variant	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117186311C>G	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.201G>C	11.37:g.117186311C>G						BACE1_uc001pqw.2_Silent_p.L67L|BACE1_uc001pqx.2_Silent_p.L67L|BACE1_uc001pqy.2_Silent_p.L67L|BACE1_uc001pra.1_Silent_p.L67L	p.L67L	NM_012104	NP_036236	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	1	662	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	67			Extracellular (Potential).		A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Silent	SNP	ENST00000313005.6	37	c.201G>C	CCDS8383.1																																																																																				0.711	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			8	42	0	0	0	0	8	42				
MPZL3	196264	broad.mit.edu	37	11	118111030	118111030	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:118111030C>T	ENST00000278949.4	-	2	191	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	MPZL3_ENST00000525386.1_Intron|MPZL3_ENST00000527472.1_Missense_Mutation_p.E34K			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	46	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|hair cycle (GO:0042633)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTGATCTTTTCTCCAACATAA	0.418																																						uc001psm.2		NA																	0					0						c.(136-138)GAA>AAA		myelin protein zero-like 3 precursor							204.0	165.0	178.0					11																	118111030		2200	4296	6496	SO:0001583	missense	196264				cell adhesion	integral to membrane		g.chr11:118111030C>T	AK095399	CCDS8392.1, CCDS66241.1	11q23.3	2013-01-11			ENSG00000160588	ENSG00000160588		"""Immunoglobulin superfamily / V-set domain containing"""	27279	protein-coding gene	gene with protein product		611707				17273165	Standard	NM_198275		Approved		uc001psm.3	Q6UWV2	OTTHUMG00000166966	ENST00000278949.4:c.136G>A	11.37:g.118111030C>T	ENSP00000278949:p.Glu46Lys					MPZL3_uc010rxy.1_Missense_Mutation_p.E34K|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron	p.E46K	NM_198275	NP_938016	Q6UWV2	MPZL3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)	2	138	-	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	46			Ig-like V-type.		A8K025|B4DLD5|B4E2I8	Missense_Mutation	SNP	ENST00000278949.4	37	c.136G>A	CCDS8392.1	.	.	.	.	.	.	.	.	.	.	C	32	5.173739	0.94807	.	.	ENSG00000160588	ENST00000278949;ENST00000527472	D;D	0.94862	-3.54;-3.54	5.51	5.51	0.81932	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060703	0.64402	D	0.000004	D	0.94003	0.8079	L	0.43152	1.355	0.58432	D	0.999999	P;D	0.54397	0.91;0.966	P;P	0.52309	0.607;0.695	D	0.91720	0.5388	10	0.19147	T	0.46	.	18.7651	0.91869	0.0:1.0:0.0:0.0	.	34;46	B4E2I8;Q6UWV2	.;MPZL3_HUMAN	K	46;34	ENSP00000278949:E46K;ENSP00000432106:E34K	ENSP00000278949:E46K	E	-	1	0	MPZL3	117616240	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.857000	0.62939	2.746000	0.94184	0.655000	0.94253	GAA		0.418	MPZL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392109.1	NM_198275		14	66	0	0	0	0	14	66				
SORL1	6653	broad.mit.edu	37	11	121478812	121478812	+	Splice_Site	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr11:121478812G>A	ENST00000260197.7	+	38	5295		c.e38-1		SORL1_ENST00000527934.1_Splice_Site|SORL1_ENST00000534286.1_Splice_Site|SORL1_ENST00000532694.1_Splice_Site|SORL1_ENST00000525532.1_Splice_Site	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing						cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GATTTGAAAAGGTGGCTGCGG	0.393																																						uc001pxx.2		NA																	0				ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1)	15						c.e38-1		sortilin-related receptor containing LDLR class							99.0	96.0	97.0					11																	121478812		2203	4299	6502	SO:0001630	splice_region_variant	6653				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	g.chr11:121478812G>A	Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5167-1G>A	11.37:g.121478812G>A						SORL1_uc010rzp.1_Splice_Site_p.V569_splice|SORL1_uc010rzq.1_Splice_Site_p.V338_splice	p.V1723_splice	NM_003105	NP_003096	Q92673	SORL_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)	38	5247	+		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)						B2RNX7|Q92856	Splice_Site	SNP	ENST00000260197.7	37	c.5167_splice	CCDS8436.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006861	0.74932	.	.	ENSG00000137642	ENST00000260197;ENST00000525532;ENST00000532694;ENST00000534286;ENST00000527934	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1752	0.89759	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SORL1	120984022	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.048000	0.93830	2.381000	0.81170	0.462000	0.41574	.		0.393	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387626.2	NM_003105	Intron	26	21	0	0	0	0	26	21				
SLC2A14	144195	broad.mit.edu	37	12	7981428	7981428	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:7981428T>C	ENST00000543909.1	-	11	1376	c.617A>G	c.(616-618)gAg>gGg	p.E206G	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.E183G|SLC2A14_ENST00000396589.2_Missense_Mutation_p.E206G|SLC2A14_ENST00000542546.1_Missense_Mutation_p.E97G|SLC2A14_ENST00000539924.1_Missense_Mutation_p.E221G|SLC2A14_ENST00000535295.1_Missense_Mutation_p.E97G|SLC2A14_ENST00000340749.5_Missense_Mutation_p.E183G			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	206					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CGGCCATAGCTCTTCAGACCC	0.453																																						uc001qtk.2		NA																	0				ovary(1)	1						c.(616-618)GAG>GGG		glucose transporter 14							125.0	114.0	118.0					12																	7981428		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7981428T>C	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.617A>G	12.37:g.7981428T>C	ENSP00000440480:p.Glu206Gly					SLC2A14_uc001qtl.2_Missense_Mutation_p.E183G|SLC2A14_uc001qtm.2_Missense_Mutation_p.E183G|SLC2A14_uc010sgg.1_Missense_Mutation_p.E97G|SLC2A14_uc001qtn.2_Missense_Mutation_p.E206G|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Missense_Mutation_p.E221G	p.E206G	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	11	1410	-			206			Extracellular (Potential).		B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.617A>G	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	T	4.862	0.160157	0.09287	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	3.92	-0.813	0.10850	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.881542	0.10079	N	0.718700	T	0.59059	0.2166	L	0.35487	1.065	0.09310	N	1	B;B;B;B	0.11235	0.004;0.001;0.004;0.002	B;B;B;B	0.15870	0.014;0.005;0.012;0.005	T	0.50642	-0.8804	10	0.49607	T	0.09	.	5.2431	0.15483	0.1513:0.0:0.4014:0.4473	.	221;97;183;206	B7ZAC3;B7Z844;Q8TDB8-2;Q8TDB8	.;.;.;GTR14_HUMAN	G	183;206;183;206;97;97;221	ENSP00000340450:E183G;ENSP00000440480:E206G;ENSP00000407287:E183G;ENSP00000379834:E206G;ENSP00000440492:E97G;ENSP00000443903:E97G;ENSP00000445929:E221G	ENSP00000340450:E183G	E	-	2	0	SLC2A14	7872695	0.000000	0.05858	0.005000	0.12908	0.026000	0.11368	-1.284000	0.02793	0.350000	0.24002	0.377000	0.23210	GAG		0.453	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		12	125	0	0	0	0	12	125				
ADAMTS20	80070	broad.mit.edu	37	12	43944794	43944794	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:43944794G>A	ENST00000389420.3	-	2	370	c.371C>T	c.(370-372)tCg>tTg	p.S124L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.S124L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	124					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S124*(2)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCGCAGGTCCGAGGGCCCTGC	0.667																																						uc010skx.1		NA																	2	Substitution - Nonsense(2)		lung(2)	central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1)	19						c.(370-372)TCG>TTG		a disintegrin-like and metalloprotease with							20.0	23.0	22.0					12																	43944794		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944794G>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.371C>T	12.37:g.43944794G>A	ENSP00000374071:p.Ser124Leu						p.S124L	NM_025003	NP_079279	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	371	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	124					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.371C>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	G	11.14	1.550389	0.27739	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.61742	0.26;0.08	4.14	0.211	0.15236	Peptidase M12B, propeptide (1);	0.740797	0.11124	N	0.597115	T	0.47248	0.1435	M	0.64404	1.975	0.09310	N	0.999999	P	0.42039	0.769	B	0.36186	0.219	T	0.34054	-0.9844	10	0.44086	T	0.13	.	5.6651	0.17690	0.2352:0.0:0.6268:0.138	.	124	P59510	ATS20_HUMAN	L	124	ENSP00000374071:S124L;ENSP00000448341:S124L	ENSP00000374068:S124L	S	-	2	0	ADAMTS20	42231061	0.950000	0.32346	0.006000	0.13384	0.020000	0.10135	2.218000	0.42889	0.025000	0.15241	-0.229000	0.12294	TCG		0.667	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		3	23	0	0	0	0	3	23				
PFKM	5213	broad.mit.edu	37	12	48526696	48526696	+	Nonsense_Mutation	SNP	C	C	T	rs121918195		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:48526696C>T	ENST00000312352.7	+	5	322	c.283C>T	c.(283-285)Cga>Tga	p.R95*	PFKM_ENST00000359794.5_Nonsense_Mutation_p.R95*|PFKM_ENST00000395233.2_Nonsense_Mutation_p.R95*|PFKM_ENST00000340802.6_Nonsense_Mutation_p.R166*|PFKM_ENST00000551804.1_Nonsense_Mutation_p.R95*|PFKM_ENST00000547587.1_Nonsense_Mutation_p.R95*	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	95	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CTTTCGGGAACGAGAAGGACG	0.567																																						uc001rrc.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|kidney(1)	4	GRCh37	CM950927	PFKM	M	rs121918195	c.(283-285)CGA>TGA		phosphofructokinase, muscle							91.0	75.0	80.0					12																	48526696		2203	4300	6503	SO:0001587	stop_gained	5213				fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding	g.chr12:48526696C>T	M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.283C>T	12.37:g.48526696C>T	ENSP00000309438:p.Arg95*					PFKM_uc001rra.1_Translation_Start_Site|PFKM_uc001rrb.1_Nonsense_Mutation_p.R166*|PFKM_uc001rrd.2_Translation_Start_Site|PFKM_uc001rre.1_Nonsense_Mutation_p.R95*|PFKM_uc001rrg.1_Nonsense_Mutation_p.R95*	p.R95*	NM_000289	NP_000280	P08237	K6PF_HUMAN			5	453	+			95					J3KNX3|Q16814|Q16815|Q6ZTT1	Nonsense_Mutation	SNP	ENST00000312352.7	37	c.283C>T	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599527	0.87055	.	.	ENSG00000152556	ENST00000550345;ENST00000549003;ENST00000549941;ENST00000340802;ENST00000359794;ENST00000551339;ENST00000395233;ENST00000548345;ENST00000551804;ENST00000549022;ENST00000547587;ENST00000312352	.	.	.	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.8351	17.2572	0.87060	0.0:1.0:0.0:0.0	.	.	.	.	X	95;95;128;166;95;95;95;95;95;95;95;95	.	ENSP00000309438:R95X	R	+	1	2	PFKM	46812963	0.997000	0.39634	0.984000	0.44739	0.992000	0.81027	3.806000	0.55583	2.811000	0.96726	0.555000	0.69702	CGA		0.567	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289		8	40	0	0	0	0	8	40				
SMARCC2	6601	broad.mit.edu	37	12	56565655	56565655	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:56565655C>T	ENST00000267064.4	-	20	1986	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Missense_Mutation_p.E665K|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E665K|SMARCC2_ENST00000394023.3_Missense_Mutation_p.E665K	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	634	SANT. {ECO:0000255|PROSITE- ProRule:PRU00624}.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AAGATGCACTCGTCCTGTGTG	0.542																																						uc001skb.2		NA																	0				lung(2)|central_nervous_system(2)|ovary(1)|skin(1)	6						c.(1900-1902)GAG>AAG		SWI/SNF-related matrix-associated							99.0	84.0	89.0					12																	56565655		2203	4300	6503	SO:0001583	missense	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56565655C>T	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1900G>A	12.37:g.56565655C>T	ENSP00000267064:p.Glu634Lys					SMARCC2_uc001skd.2_Missense_Mutation_p.E665K|SMARCC2_uc001ska.2_Missense_Mutation_p.E665K|SMARCC2_uc001skc.2_Missense_Mutation_p.E664K|SMARCC2_uc010sqf.1_Missense_Mutation_p.E554K	p.E634K	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		20	2006	-			634			SANT.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Missense_Mutation	SNP	ENST00000267064.4	37	c.1900G>A	CCDS8907.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260425	0.95368	.	.	ENSG00000139613	ENST00000394023;ENST00000550164;ENST00000347471;ENST00000267064	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	3.73	3.73	0.42828	Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);SANT, eukarya (1);	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.995;0.996;0.996;0.995	D;D;D;D;D	0.77004	0.989;0.956;0.974;0.974;0.956	T	0.80732	-0.1251	10	0.87932	D	0	-17.2645	15.4916	0.75611	0.0:1.0:0.0:0.0	.	554;665;669;634;665	B4DF22;F8VTJ5;Q59G16;Q8TAQ2;Q8TAQ2-2	.;.;.;SMRC2_HUMAN;.	K	665;665;665;634	ENSP00000377591:E665K;ENSP00000449396:E665K;ENSP00000302919:E665K;ENSP00000267064:E634K	ENSP00000267064:E634K	E	-	1	0	SMARCC2	54851922	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.609000	0.82925	2.385000	0.81259	0.655000	0.94253	GAG		0.542	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	81	0	0	0	0	7	81				
STAC3	246329	broad.mit.edu	37	12	57642941	57642941	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:57642941C>G	ENST00000332782.2	-	3	418	c.217G>C	c.(217-219)Gag>Cag	p.E73Q	STAC3_ENST00000546246.2_Intron|STAC3_ENST00000554578.1_Missense_Mutation_p.E34Q	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	73	Poly-Glu.				intracellular signal transduction (GO:0035556)|neuromuscular synaptic transmission (GO:0007274)|skeletal muscle contraction (GO:0003009)|skeletal muscle fiber development (GO:0048741)		identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						tcctcctcctcctcttcttcc	0.542																																						uc001snp.2		NA																	0				ovary(2)|skin(1)	3						c.(217-219)GAG>CAG		SH3 and cysteine rich domain 3							64.0	66.0	65.0					12																	57642941		2203	4300	6503	SO:0001583	missense	246329				intracellular signal transduction		identical protein binding|metal ion binding	g.chr12:57642941C>G	AK057013	CCDS8936.1, CCDS66405.1, CCDS66406.1	12q13.3	2014-08-12			ENSG00000185482	ENSG00000185482			28423	protein-coding gene	gene with protein product		615521				12477932	Standard	NM_001286257		Approved	MGC2793	uc009zpl.2	Q96MF2	OTTHUMG00000171271	ENST00000332782.2:c.217G>C	12.37:g.57642941C>G	ENSP00000329200:p.Glu73Gln					STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Missense_Mutation_p.E34Q|STAC3_uc010srm.1_Intron	p.E73Q	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN			3	412	-			73			Poly-Glu.		B4DUK9|Q96HU5	Missense_Mutation	SNP	ENST00000332782.2	37	c.217G>C	CCDS8936.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.615192	0.66672	.	.	ENSG00000185482	ENST00000554578;ENST00000332782;ENST00000553489	T;D;D	0.94687	-1.48;-1.5;-3.49	5.58	5.58	0.84498	.	0.121823	0.56097	D	0.000039	D	0.94775	0.8313	N	0.22421	0.69	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	D	0.94004	0.7278	10	0.35671	T	0.21	-30.3947	18.7345	0.91749	0.0:1.0:0.0:0.0	.	73	Q96MF2	STAC3_HUMAN	Q	34;73;73	ENSP00000452068:E34Q;ENSP00000329200:E73Q;ENSP00000452299:E73Q	ENSP00000329200:E73Q	E	-	1	0	STAC3	55929208	1.000000	0.71417	0.981000	0.43875	0.733000	0.41908	4.020000	0.57189	2.813000	0.96785	0.655000	0.94253	GAG		0.542	STAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412724.2	NM_145064		25	67	0	0	0	0	25	67				
BBS10	79738	broad.mit.edu	37	12	76740945	76740945	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:76740945C>G	ENST00000393262.3	-	2	903	c.820G>C	c.(820-822)Gag>Cag	p.E274Q		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	274					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						AGAATAAACTCTGATCCAGAA	0.368									Bardet-Biedl syndrome																													uc001syd.1		NA																	0				ovary(1)|skin(1)	2						c.(820-822)GAG>CAG		Bardet-Biedl syndrome 10							61.0	54.0	56.0					12																	76740945		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76740945C>G	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.820G>C	12.37:g.76740945C>G	ENSP00000376946:p.Glu274Gln						p.E274Q	NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN			2	904	-			274					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.820G>C	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	C	15.36	2.810695	0.50421	.	.	ENSG00000179941	ENST00000393262	T	0.67523	-0.27	5.13	5.13	0.70059	.	0.073236	0.56097	D	0.000033	T	0.79335	0.4428	M	0.73598	2.24	0.35008	D	0.756622	D	0.76494	0.999	D	0.72338	0.977	D	0.84356	0.0535	10	0.56958	D	0.05	-14.1095	11.5312	0.50612	0.0:0.9189:0.0:0.0811	.	274	Q8TAM1	BBS10_HUMAN	Q	274	ENSP00000376946:E274Q	ENSP00000376946:E274Q	E	-	1	0	BBS10	75265076	0.998000	0.40836	1.000000	0.80357	0.878000	0.50629	2.945000	0.49043	2.827000	0.97445	0.650000	0.86243	GAG		0.368	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		10	44	0	0	0	0	10	44				
PPFIA2	8499	broad.mit.edu	37	12	82147853	82147853	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:82147853G>A	ENST00000549396.1	-	3	308	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	PPFIA2_ENST00000550584.2_Missense_Mutation_p.R50W|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R50W|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R50W|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R50W|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R50W	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	50					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGGGTCTCCCGAAGGGTGTCT	0.527																																						uc001szo.1		NA																	0				ovary(3)|lung(2)|pancreas(1)	6						c.(148-150)CGG>TGG		PTPRF interacting protein alpha 2							62.0	65.0	64.0					12																	82147853		1934	4143	6077	SO:0001583	missense	8499							g.chr12:82147853G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.148C>T	12.37:g.82147853G>A	ENSP00000450337:p.Arg50Trp					PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA	p.R50W	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN			3	309	-			309					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.148C>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248717	0.80024	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000552948;ENST00000551442;ENST00000547623	T;T;T;T;T;T;T	0.50813	1.06;1.06;1.06;1.06;1.06;1.06;0.73	5.95	5.04	0.67666	.	0.075220	0.52532	D	0.000079	T	0.64594	0.2612	M	0.81497	2.545	0.80722	D	1	D	0.69078	0.997	P	0.53490	0.727	T	0.72330	-0.4326	10	0.87932	D	0	.	17.0605	0.86546	0.0:0.127:0.873:0.0	.	50	O75334	LIPA2_HUMAN	W	50;50;61;50;50;50;50;50	ENSP00000450337:R50W;ENSP00000450298:R50W;ENSP00000327416:R50W;ENSP00000449338:R50W;ENSP00000447868:R50W;ENSP00000449469:R50W;ENSP00000447918:R50W	ENSP00000327416:R50W	R	-	1	2	PPFIA2	80671984	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	5.198000	0.65147	1.475000	0.48197	0.650000	0.86243	CGG		0.527	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			11	36	0	0	0	0	11	36				
CFAP54	144535	broad.mit.edu	37	12	97136306	97136306	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:97136306C>G	ENST00000524981.4	+	52	7184	c.7161C>G	c.(7159-7161)tgC>tgG	p.C2387W				Q96N23	CL055_HUMAN		0																	GGTTGAGGTGCCGCTTAGCAT	0.343																																						uc001tet.1		NA																	0				skin(6)|ovary(1)	7						c.(2434-2436)TGC>TGG		hypothetical protein LOC374467							89.0	82.0	85.0					12																	97136306		2203	4300	6503	SO:0001583	missense	374467							g.chr12:97136306C>G																												ENST00000524981.4:c.7161C>G	12.37:g.97136306C>G	ENSP00000431759:p.Cys2387Trp						p.C812W	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			19	2514	+			812						Missense_Mutation	SNP	ENST00000524981.4	37	c.2436C>G		.	.	.	.	.	.	.	.	.	.	C	16.18	3.050235	0.55218	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.79	4.9	0.64082	.	0.000000	0.64402	D	0.000001	T	0.71937	0.3399	M	0.71581	2.175	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	T	0.73864	-0.3848	9	0.87932	D	0	-8.9579	9.6865	0.40103	0.0:0.85:0.0:0.15	.	812	Q6ZTY8	CL063_HUMAN	W	2387;812	.	ENSP00000345466:C812W	C	+	3	2	C12orf63	95660437	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	0.677000	0.25262	2.749000	0.94314	0.491000	0.48974	TGC		0.343	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4			7	39	0	0	0	0	7	39				
TRPV4	59341	broad.mit.edu	37	12	110236715	110236715	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:110236715C>A	ENST00000418703.2	-	5	950	c.856G>T	c.(856-858)Gag>Tag	p.E286*	TRPV4_ENST00000537083.1_Nonsense_Mutation_p.E286*|TRPV4_ENST00000544971.1_Nonsense_Mutation_p.E239*|TRPV4_ENST00000541794.1_Nonsense_Mutation_p.E239*|TRPV4_ENST00000392719.2_Nonsense_Mutation_p.E239*|TRPV4_ENST00000261740.2_Nonsense_Mutation_p.E286*|TRPV4_ENST00000536838.1_Nonsense_Mutation_p.E252*|TRPV4_ENST00000346520.2_Nonsense_Mutation_p.E286*	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	286					actin cytoskeleton reorganization (GO:0031532)|actin filament organization (GO:0007015)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cell death (GO:0008219)|cell volume homeostasis (GO:0006884)|cell-cell junction assembly (GO:0007043)|cellular calcium ion homeostasis (GO:0006874)|cellular hypotonic response (GO:0071476)|cellular response to heat (GO:0034605)|cellular response to osmotic stress (GO:0071470)|cortical microtubule organization (GO:0043622)|hyperosmotic salinity response (GO:0042538)|ion transmembrane transport (GO:0034220)|microtubule polymerization (GO:0046785)|negative regulation of neuron projection development (GO:0010977)|osmosensory signaling pathway (GO:0007231)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of microtubule depolymerization (GO:0031117)|regulation of response to osmotic stress (GO:0047484)|response to mechanical stimulus (GO:0009612)|transmembrane transport (GO:0055085)|vasopressin secretion (GO:0030103)	adherens junction (GO:0005912)|cell surface (GO:0009986)|cilium (GO:0005929)|cortical actin cytoskeleton (GO:0030864)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|beta-tubulin binding (GO:0048487)|calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)|cation channel activity (GO:0005261)|microtubule binding (GO:0008017)|osmosensor activity (GO:0005034)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AGGGGCAGCTCCCCTGCGGGC	0.682																																						uc001tpj.1		NA																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	4						c.(856-858)GAG>TAG		transient receptor potential cation channel,							34.0	37.0	36.0					12																	110236715		2203	4300	6503	SO:0001587	stop_gained	59341				actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	g.chr12:110236715C>A	AF263523	CCDS9134.1, CCDS9135.1, CCDS53827.1, CCDS53828.1, CCDS53829.1	12q24.1	2014-09-17				ENSG00000111199		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18083	protein-coding gene	gene with protein product	"""osmosensitive transient receptor potential channel 4"""	605427				11025659, 11081638, 16382100, 20037587	Standard	NM_147204		Approved	OTRPC4, TRP12, VROAC, VRL-2, VR-OAC, CMT2C	uc001tpk.2	Q9HBA0		ENST00000418703.2:c.856G>T	12.37:g.110236715C>A	ENSP00000406191:p.Glu286*					TRPV4_uc001tpg.1_Nonsense_Mutation_p.E252*|TRPV4_uc001tph.1_Nonsense_Mutation_p.E239*|TRPV4_uc001tpi.1_Nonsense_Mutation_p.E239*|TRPV4_uc001tpk.1_Nonsense_Mutation_p.E286*|TRPV4_uc001tpl.1_Nonsense_Mutation_p.E286*	p.E286*	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN			5	951	-			286			Cytoplasmic (Potential).|ANK 2.		B7ZKQ6|Q17R79|Q2Y122|Q2Y123|Q2Y124|Q86YZ6|Q8NDY7|Q8NG64|Q96Q92|Q96RS7|Q9HBC0	Nonsense_Mutation	SNP	ENST00000418703.2	37	c.856G>T	CCDS9134.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.519167	0.85495	.	.	ENSG00000111199	ENST00000418703;ENST00000261740;ENST00000392719;ENST00000346520;ENST00000544971;ENST00000537083;ENST00000541794;ENST00000536838	.	.	.	4.37	4.37	0.52481	.	0.050650	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-13.7147	16.0511	0.80763	0.0:1.0:0.0:0.0	.	.	.	.	X	286;286;239;286;239;286;239;252	.	ENSP00000261740:E286X	E	-	1	0	TRPV4	108721098	1.000000	0.71417	1.000000	0.80357	0.271000	0.26615	7.231000	0.78106	2.435000	0.82474	0.655000	0.94253	GAG		0.682	TRPV4-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403270.1	NM_021625		20	58	1	0	8.05e-18	8.83e-18	20	58				
VPS33A	65082	broad.mit.edu	37	12	122748187	122748187	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:122748187C>T	ENST00000267199.4	-	3	340	c.228G>A	c.(226-228)gtG>gtA	p.V76V	RP11-512M8.5_ENST00000535844.1_Silent_p.V76V|VPS33A_ENST00000451053.2_Silent_p.V76V|VPS33A_ENST00000542310.1_5'UTR	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	76					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of developmental pigmentation (GO:0048070)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	early endosome (GO:0005769)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TTATATTCTTCACATCAGCTG	0.388																																						uc001ucd.2		NA																	0				skin(1)	1						c.(226-228)GTG>GTA		vacuolar protein sorting 33A							88.0	85.0	86.0					12																	122748187		2203	4300	6503	SO:0001819	synonymous_variant	65082				lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	g.chr12:122748187C>T	AK026048	CCDS9231.1	12q24.31	2008-06-23	2006-04-04		ENSG00000139719	ENSG00000139719			18179	protein-coding gene	gene with protein product		610034	"""vacuolar protein sorting 33A (yeast)"""			11250079	Standard	NM_022916		Approved		uc001ucd.3	Q96AX1	OTTHUMG00000168920	ENST00000267199.4:c.228G>A	12.37:g.122748187C>T						VPS33A_uc001ucc.2_RNA|VPS33A_uc001uce.2_Silent_p.V76V	p.V76V	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)	3	341	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		76					Q547V4|Q9H5Q0	Silent	SNP	ENST00000267199.4	37	c.228G>A	CCDS9231.1																																																																																				0.388	VPS33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401607.2			10	72	0	0	0	0	10	72				
ABCB9	23457	broad.mit.edu	37	12	123444339	123444339	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:123444339C>T	ENST00000542678.1	-	2	3282	c.444G>A	c.(442-444)gaG>gaA	p.E148E	ABCB9_ENST00000280560.8_Silent_p.E148E|ABCB9_ENST00000540285.1_Silent_p.E148E|ABCB9_ENST00000442833.2_Silent_p.E148E|ABCB9_ENST00000392439.3_Silent_p.E148E|ABCB9_ENST00000442028.2_Silent_p.E148E|ABCB9_ENST00000344275.7_Silent_p.E148E|ABCB9_ENST00000346530.5_Silent_p.E148E			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	148					peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CCGCCCCTGGCTCCAGGGCCT	0.692																																					Ovarian(49;786 1333 9175 38236)	uc001udm.3		NA																	0					0						c.(442-444)GAG>GAA		ATP-binding cassette, sub-family B (MDR/TAP),							17.0	20.0	19.0					12																	123444339		2197	4285	6482	SO:0001819	synonymous_variant	23457				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr12:123444339C>T	U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.444G>A	12.37:g.123444339C>T						ABCB9_uc009zxr.2_Intron|ABCB9_uc001udo.3_Silent_p.E148E|ABCB9_uc010taj.1_Silent_p.E148E|ABCB9_uc001udp.2_Silent_p.E148E|ABCB9_uc001udq.2_5'UTR|ABCB9_uc001udr.2_Silent_p.E148E	p.E148E	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)	2	754	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		148					B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Silent	SNP	ENST00000542678.1	37	c.444G>A	CCDS9241.1																																																																																				0.692	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400956.1	NM_019624		9	28	0	0	0	0	9	28				
GPR133	283383	broad.mit.edu	37	12	131593290	131593290	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:131593290G>A	ENST00000261654.5	+	18	2468	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	GPR133_ENST00000376682.4_Missense_Mutation_p.V323M|GPR133_ENST00000535015.1_Missense_Mutation_p.V669M|GPR133_ENST00000543617.1_Missense_Mutation_p.V156M	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	637					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGTGATGGCCGTGCTCCTACA	0.582																																						uc001uit.3		NA																	0				pancreas(5)|ovary(3)|skin(2)	10						c.(1909-1911)GTG>ATG		G protein-coupled receptor 133 precursor							228.0	209.0	215.0					12																	131593290		2203	4300	6503	SO:0001583	missense	283383				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:131593290G>A	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.1909G>A	12.37:g.131593290G>A	ENSP00000261654:p.Val637Met					GPR133_uc010tbm.1_Missense_Mutation_p.V669M|GPR133_uc009zyo.2_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.V156M|GPR133_uc009zyp.2_RNA	p.V637M	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)	18	2468	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		637			Helical; Name=3; (Potential).		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	37	c.1909G>A	CCDS9272.1	.	.	.	.	.	.	.	.	.	.	G	6.997	0.554040	0.13374	.	.	ENSG00000111452	ENST00000261654;ENST00000535015;ENST00000376682;ENST00000543617	T;T;T;T	0.50813	0.73;1.22;1.18;1.18	4.91	-1.38	0.09027	GPCR, family 2-like (1);	0.639709	0.16259	N	0.222332	T	0.35451	0.0932	L	0.43701	1.375	0.26897	N	0.967202	P;P;P	0.39696	0.683;0.601;0.642	B;B;B	0.36378	0.223;0.134;0.223	T	0.16512	-1.0400	10	0.51188	T	0.08	.	11.1759	0.48598	0.6406:0.0:0.3594:0.0	.	669;156;637	B7ZLF7;Q6QNK2-3;Q6QNK2	.;.;GP133_HUMAN	M	637;669;323;156	ENSP00000261654:V637M;ENSP00000444425:V669M;ENSP00000365872:V323M;ENSP00000438021:V156M	ENSP00000261654:V637M	V	+	1	0	GPR133	130159243	0.005000	0.15991	0.711000	0.30485	0.061000	0.15899	0.037000	0.13840	-0.695000	0.05105	-0.768000	0.03414	GTG		0.582	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	NM_198827		53	197	0	0	0	0	53	197				
PCDH8	5100	broad.mit.edu	37	13	53418853	53418853	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:53418853C>G	ENST00000377942.3	-	3	3258	c.3055G>C	c.(3055-3057)Gag>Cag	p.E1019Q	PCDH8_ENST00000338862.4_Missense_Mutation_p.E922Q	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	1019					cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGTACTTTCTCATAGACGCTC	0.577																																					GBM(36;25 841 9273 49207)	uc001vhi.2		NA																	0				breast(1)	1						c.(3055-3057)GAG>CAG		protocadherin 8 isoform 1 precursor							165.0	137.0	147.0					13																	53418853		2203	4300	6503	SO:0001583	missense	5100				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding	g.chr13:53418853C>G	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.3055G>C	13.37:g.53418853C>G	ENSP00000367177:p.Glu1019Gln					PCDH8_uc001vhj.2_Missense_Mutation_p.E922Q	p.E1019Q	NM_002590	NP_002581	O95206	PCDH8_HUMAN		GBM - Glioblastoma multiforme(99;2.19e-08)	3	3258	-		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	1019			Cytoplasmic (Potential).		B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	37	c.3055G>C	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619389	0.66787	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.68765	-0.19;-0.35	5.95	5.95	0.96441	.	0.154192	0.29775	N	0.011227	T	0.66117	0.2757	L	0.43152	1.355	0.42599	D	0.993279	B;B	0.25007	0.116;0.071	B;B	0.30782	0.12;0.056	T	0.63386	-0.6649	10	0.72032	D	0.01	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	922;1019	O95206-2;O95206	.;PCDH8_HUMAN	Q	1019;922;545;862	ENSP00000367177:E1019Q;ENSP00000341350:E922Q	ENSP00000341350:E922Q	E	-	1	0	PCDH8	52316854	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.270000	0.78493	2.817000	0.96982	0.563000	0.77884	GAG		0.577	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590		31	98	0	0	0	0	31	98				
BORA	79866	broad.mit.edu	37	13	73320742	73320742	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:73320742G>A	ENST00000390667.5	+	10	1072	c.975G>A	c.(973-975)tcG>tcA	p.S325S	BORA_ENST00000377815.3_Silent_p.S255S	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	325					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										ATGGCTGCTCGCCAATTAAAA	0.393																																						uc001viv.1		NA																	0					0						c.(973-975)TCG>TCA		aurora borealis							95.0	90.0	92.0					13																	73320742		1833	4079	5912	SO:0001819	synonymous_variant	79866				cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization		protein kinase binding	g.chr13:73320742G>A	BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.975G>A	13.37:g.73320742G>A						C13orf34_uc010thq.1_Silent_p.S100S|C13orf34_uc010aen.1_Silent_p.S400S|C13orf34_uc010thr.1_Silent_p.S255S|C13orf34_uc001viw.1_Silent_p.S274S	p.S325S	NM_024808	NP_079084	Q6PGQ7	BORA_HUMAN		GBM - Glioblastoma multiforme(99;0.000227)	10	1094	+		Breast(118;0.0735)	325					B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Silent	SNP	ENST00000390667.5	37	c.975G>A	CCDS9446.1																																																																																				0.393	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045245.3	NM_024808		22	102	0	0	0	0	22	102				
RBM26	64062	broad.mit.edu	37	13	79940220	79940220	+	Missense_Mutation	SNP	G	G	A	rs143505765		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:79940220G>A	ENST00000438737.2	-	8	1686	c.1246C>T	c.(1246-1248)Cct>Tct	p.P416S	RBM26_ENST00000438724.1_Missense_Mutation_p.P416S|RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000267229.7_Missense_Mutation_p.P416S			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	416	Pro-rich.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGAGCAGGAGGAGGCTGGTGA	0.438																																						uc001vkz.2		NA																	0				ovary(1)	1						c.(1246-1248)CCT>TCT		RNA binding motif protein 26		G	SER/PRO	1,4405	2.1+/-5.4	0,1,2202	131.0	132.0	132.0		1246	6.1	1.0	13	dbSNP_134	132	0,8600		0,0,4300	no	missense	RBM26	NM_022118.3	74	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	416/981	79940220	1,13005	2203	4300	6503	SO:0001583	missense	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79940220G>A	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1246C>T	13.37:g.79940220G>A	ENSP00000387531:p.Pro416Ser					RBM26_uc001vky.2_Missense_Mutation_p.P416S|RBM26_uc001vla.2_Missense_Mutation_p.P416S|RBM26_uc001vkx.2_Missense_Mutation_p.P128S	p.P416S	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	8	1260	-		Acute lymphoblastic leukemia(28;0.0279)	416			Pro-rich.		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	ENST00000438737.2	37	c.1246C>T		.	.	.	.	.	.	.	.	.	.	G	19.91	3.915355	0.73098	2.27E-4	0.0	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	T;T;T	0.50001	0.79;0.76;0.8	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.56140	0.1965	L	0.42245	1.32	0.58432	D	0.999998	D;P;D	0.59767	0.973;0.954;0.986	P;P;P	0.53593	0.73;0.541;0.73	T	0.44952	-0.9294	9	.	.	.	-12.4677	20.6208	0.99490	0.0:0.0:1.0:0.0	.	416;416;416	Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;RBM26_HUMAN;.	S	416;417;416;416	ENSP00000267229:P416S;ENSP00000387531:P417S;ENSP00000390222:P416S	.	P	-	1	0	RBM26	78838221	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.502000	0.81614	2.882000	0.98803	0.655000	0.94253	CCT		0.438	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		27	131	0	0	0	0	27	131				
TEX29	121793	broad.mit.edu	37	13	111980540	111980540	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr13:111980540T>C	ENST00000283547.1	+	3	198	c.69T>C	c.(67-69)gtT>gtC	p.V23V		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	23						integral component of membrane (GO:0016021)											TGTGTGACGTTCCTCTGTATG	0.542																																						uc001vsa.2		NA																	0					0						c.(67-69)GTT>GTC		hypothetical protein LOC121793							157.0	128.0	138.0					13																	111980540		2203	4300	6503	SO:0001819	synonymous_variant	121793					integral to membrane		g.chr13:111980540T>C	BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.69T>C	13.37:g.111980540T>C							p.V23V	NM_152324	NP_689537	Q8N6K0	CM016_HUMAN	all cancers(43;0.113)|GBM - Glioblastoma multiforme(44;0.174)|BRCA - Breast invasive adenocarcinoma(86;0.188)		3	198	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		23			Extracellular (Potential).			Silent	SNP	ENST00000283547.1	37	c.69T>C	CCDS9522.1																																																																																				0.542	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045812.2	NM_152324		25	77	0	0	0	0	25	77				
MDGA2	161357	broad.mit.edu	37	14	47566311	47566311	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:47566311T>C	ENST00000399232.2	-	6	1098	c.734A>G	c.(733-735)aAa>aGa	p.K245R	MDGA2_ENST00000439988.3_Missense_Mutation_p.K314R|MDGA2_ENST00000426342.1_Missense_Mutation_p.K16R|MDGA2_ENST00000357362.3_Missense_Mutation_p.K16R	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	245	Ig-like 3.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CACCAAGAGTTTAATTGACGG	0.403																																						uc001wwj.3		NA																	0				ovary(4)|large_intestine(1)|pancreas(1)	6						c.(733-735)AAA>AGA		MAM domain containing 1 isoform 1							114.0	106.0	108.0					14																	47566311		1875	4095	5970	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47566311T>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.734A>G	14.37:g.47566311T>C	ENSP00000382178:p.Lys245Arg					MDGA2_uc001wwi.3_Missense_Mutation_p.K16R|MDGA2_uc010ani.2_5'UTR	p.K245R	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			6	930	-			245			Ig-like 3.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.734A>G		.	.	.	.	.	.	.	.	.	.	T	23.0	4.366933	0.82463	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.51325	0.71;2.44;0.71;2.44	5.65	5.65	0.86999	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	U	0.000050	T	0.40423	0.1116	N	0.16037	0.36	0.80722	D	1	P	0.35481	0.504	B	0.43018	0.405	T	0.42292	-0.9460	10	0.51188	T	0.08	.	14.9885	0.71368	0.0:0.0:0.0:1.0	.	245	Q7Z553	MDGA2_HUMAN	R	245;16;314;16	ENSP00000400011:K245R;ENSP00000405456:K16R;ENSP00000382178:K314R;ENSP00000349925:K16R	ENSP00000349925:K16R	K	-	2	0	MDGA2	46636061	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.371000	0.79600	2.276000	0.75962	0.528000	0.53228	AAA		0.403	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		51	83	0	0	0	0	51	83				
OTX2	5015	broad.mit.edu	37	14	57268748	57268748	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:57268748G>A	ENST00000555006.1	-	4	983	c.575C>T	c.(574-576)tCa>tTa	p.S192L	RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000339475.5_Missense_Mutation_p.S200L|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.S192L|OTX2_ENST00000554559.1_3'UTR			P32243	OTX2_HUMAN	orthodenticle homeobox 2	192					axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GTAGGAAGTTGAGCCAGCATA	0.527																																						uc001xcp.2		NA																	0				ovary(1)	1						c.(574-576)TCA>TTA		orthodenticle homeobox 2 isoform b							121.0	108.0	113.0					14																	57268748		2203	4300	6503	SO:0001583	missense	5015				axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	g.chr14:57268748G>A	AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.575C>T	14.37:g.57268748G>A	ENSP00000452336:p.Ser192Leu					OTX2_uc010aou.2_Missense_Mutation_p.S192L|OTX2_uc001xcq.2_Missense_Mutation_p.S200L	p.S192L	NM_172337	NP_758840	P32243	OTX2_HUMAN			3	746	-	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)		192					B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	c.575C>T	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.408560	0.62399	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845	D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54	6.06	6.06	0.98353	Transcription factor Otx, C-terminal (1);	0.000000	0.38272	N	0.001757	D	0.94265	0.8158	M	0.81802	2.56	0.80722	D	1	P;D	0.63880	0.759;0.993	P;D	0.70487	0.696;0.969	D	0.91479	0.5203	10	0.20519	T	0.43	.	19.1989	0.93701	0.0:0.0:1.0:0.0	.	200;192	F1T0D1;P32243	.;OTX2_HUMAN	L	200;192;192;200	ENSP00000343819:S200L;ENSP00000386185:S192L;ENSP00000452336:S192L;ENSP00000451357:S200L	ENSP00000343819:S200L	S	-	2	0	OTX2	56338501	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.882000	0.98803	0.655000	0.94253	TCA		0.527	OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.		19	68	0	0	0	0	19	68				
NRXN3	9369	broad.mit.edu	37	14	80130178	80130178	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:80130178G>T	ENST00000557594.1	+	3	1440	c.487G>T	c.(487-489)Gag>Tag	p.E163*	RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000428277.2_Nonsense_Mutation_p.E163*|NRXN3_ENST00000554719.1_Nonsense_Mutation_p.E795*|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000281127.7_Nonsense_Mutation_p.E163*|NRXN3_ENST00000335750.5_Nonsense_Mutation_p.E795*	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	163	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTCCATCAAAGAGGAGAGAAC	0.478																																						uc001xun.2		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1)	10						c.(2383-2385)GAG>TAG		neurexin 3 isoform 1 precursor							119.0	105.0	110.0					14																	80130178		2203	4300	6503	SO:0001587	stop_gained	9369				axon guidance|cell adhesion	integral to plasma membrane	metal ion binding|receptor activity	g.chr14:80130178G>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.487G>T	14.37:g.80130178G>T	ENSP00000451672:p.Glu163*					NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Nonsense_Mutation_p.E163*|NRXN3_uc010asw.2_Nonsense_Mutation_p.E163*|NRXN3_uc001xur.3_Nonsense_Mutation_p.E163*	p.E795*	NM_004796	NP_004787	Q9Y4C0	NRX3A_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	14	2874	+		Renal(4;0.00876)	1168			Extracellular (Potential).|Laminin G-like 6.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Nonsense_Mutation	SNP	ENST00000557594.1	37	c.2383G>T		.	.	.	.	.	.	.	.	.	.	G	45	11.691901	0.99592	.	.	ENSG00000021645	ENST00000330071;ENST00000332068;ENST00000554719;ENST00000335750;ENST00000557594;ENST00000281127;ENST00000428277	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2982	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	1168;1157;795;795;163;163;163	.	.	E	+	1	0	NRXN3	79199931	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.796000	0.99103	2.873000	0.98535	0.563000	0.77884	GAG		0.478	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		8	40	1	0	0.000157383	0.000163232	8	40				
CATSPERB	79820	broad.mit.edu	37	14	92136190	92136190	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr14:92136190G>A	ENST00000256343.3	-	14	1411	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	419					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAGTGGCTTCGGGGATGAAAT	0.413																																						uc001xzs.1		NA																	0				breast(2)|skin(2)|ovary(1)	5						c.(1255-1257)CGA>TGA		cation channel, sperm-associated, beta							135.0	124.0	128.0					14																	92136190		2203	4300	6503	SO:0001587	stop_gained	79820				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr14:92136190G>A	AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.1255C>T	14.37:g.92136190G>A	ENSP00000256343:p.Arg419*					CATSPERB_uc010aub.1_5'UTR	p.R419*	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN			14	1395	-		all_cancers(154;0.0663)|all_epithelial(191;0.236)	419					A0AV51	Nonsense_Mutation	SNP	ENST00000256343.3	37	c.1255C>T	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	G	41	8.926730	0.99006	.	.	ENSG00000133962	ENST00000256343	.	.	.	5.58	4.62	0.57501	.	0.000000	0.49305	D	0.000147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.045	10.0044	0.41949	0.0:0.0:0.7496:0.2504	.	.	.	.	X	419	.	ENSP00000256343:R419X	R	-	1	2	CATSPERB	91205943	0.996000	0.38824	1.000000	0.80357	0.861000	0.49209	0.530000	0.23036	2.630000	0.89119	0.462000	0.41574	CGA		0.413	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764		15	35	0	0	0	0	15	35				
NPAP1	23742	broad.mit.edu	37	15	24923158	24923158	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:24923158C>A	ENST00000329468.2	+	1	2618	c.2144C>A	c.(2143-2145)tCt>tAt	p.S715Y		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	715					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGTCTGCCTCTGTCTCCAAG	0.522																																						uc001ywo.2		NA																	0				ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1)	8						c.(2143-2145)TCT>TAT		hypothetical protein LOC23742							146.0	140.0	142.0					15																	24923158		2203	4300	6503	SO:0001583	missense	23742				cell differentiation|multicellular organismal development|spermatogenesis			g.chr15:24923158C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.2144C>A	15.37:g.24923158C>A	ENSP00000333735:p.Ser715Tyr						p.S715Y	NM_018958	NP_061831	Q9NZP6	CO002_HUMAN		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)	1	2618	+		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)	715						Missense_Mutation	SNP	ENST00000329468.2	37	c.2144C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.01	2.108285	0.37242	.	.	ENSG00000185823	ENST00000329468	T	0.06294	3.32	2.77	0.797	0.18654	.	1.560540	0.03986	N	0.294141	T	0.05914	0.0154	N	0.22421	0.69	0.09310	N	1	D	0.53462	0.96	P	0.44518	0.452	T	0.24584	-1.0156	10	0.52906	T	0.07	.	3.446	0.07481	0.2489:0.6076:0.0:0.1434	.	715	Q9NZP6	CO002_HUMAN	Y	715	ENSP00000333735:S715Y	ENSP00000333735:S715Y	S	+	2	0	C15orf2	22474251	0.008000	0.16893	0.000000	0.03702	0.008000	0.06430	1.316000	0.33620	0.233000	0.21120	0.423000	0.28283	TCT		0.522	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		41	130	1	0	4.44e-20	4.89e-20	41	130				
TUBGCP4	27229	broad.mit.edu	37	15	43687329	43687329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:43687329G>T	ENST00000260383.7	+	10	1293	c.1039G>T	c.(1039-1041)Gaa>Taa	p.E347*	TUBGCP4_ENST00000399460.3_Nonsense_Mutation_p.E211*|TUBGCP4_ENST00000564079.1_Nonsense_Mutation_p.E347*			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	347					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		GATGGTAGAAGAATCCGATTT	0.413																																						uc001zro.2		NA																	0				ovary(3)	3						c.(1039-1041)GAA>TAA		tubulin, gamma complex associated protein 4							359.0	333.0	341.0					15																	43687329		1942	4134	6076	SO:0001587	stop_gained	27229				G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton	g.chr15:43687329G>T	AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1039G>T	15.37:g.43687329G>T	ENSP00000260383:p.Glu347*					TUBGCP4_uc001zrn.2_Nonsense_Mutation_p.E347*|TUBGCP4_uc010bdh.2_RNA	p.E347*	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN		GBM - Glioblastoma multiforme(94;3.53e-07)	10	1279	+		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)	347					B3KNK6|Q969X3|Q9NVF0	Nonsense_Mutation	SNP	ENST00000260383.7	37	c.1039G>T		.	.	.	.	.	.	.	.	.	.	G	40	8.237587	0.98719	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	.	.	.	5.52	5.52	0.82312	.	0.042244	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-23.7024	18.7917	0.91976	0.0:0.0:1.0:0.0	.	.	.	.	X	347;211	.	ENSP00000260383:E347X	E	+	1	0	TUBGCP4	41474621	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.757000	0.94681	0.561000	0.74099	GAA		0.413	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		36	160	1	0	4.63e-21	5.11e-21	36	160				
FSD2	123722	broad.mit.edu	37	15	83455869	83455869	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:83455869C>G	ENST00000334574.8	-	2	455	c.274G>C	c.(274-276)Gat>Cat	p.D92H	FSD2_ENST00000541889.1_Missense_Mutation_p.D92H			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	92										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						ATGTTTTCATCAACAAACTCA	0.448																																						uc002bjd.2		NA																	0				central_nervous_system(1)	1						c.(274-276)GAT>CAT		fibronectin type III and SPRY domain containing							128.0	129.0	129.0					15																	83455869		1944	4139	6083	SO:0001583	missense	123722							g.chr15:83455869C>G	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.274G>C	15.37:g.83455869C>G	ENSP00000335651:p.Asp92His					FSD2_uc010uol.1_Missense_Mutation_p.D92H|FSD2_uc010uom.1_Missense_Mutation_p.D92H	p.D92H	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			2	441	-			92					B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.274G>C	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200673	0.58126	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.47177	0.85;0.85	4.63	3.71	0.42584	.	0.468968	0.18111	N	0.151354	T	0.40145	0.1105	L	0.47716	1.5	0.09310	N	1	P;P	0.38642	0.641;0.641	B;B	0.39185	0.215;0.293	T	0.23940	-1.0174	10	0.42905	T	0.14	-8.7089	8.4139	0.32659	0.0:0.8243:0.0:0.1757	.	92;92	B7ZM02;A1L4K1	.;FSD2_HUMAN	H	92	ENSP00000335651:D92H;ENSP00000444078:D92H	ENSP00000335651:D92H	D	-	1	0	FSD2	81252923	0.007000	0.16637	0.100000	0.21137	0.912000	0.54170	0.592000	0.23984	1.174000	0.42811	0.655000	0.94253	GAT		0.448	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		35	118	0	0	0	0	35	118				
FSD2	123722	broad.mit.edu	37	15	83455949	83455949	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:83455949C>G	ENST00000334574.8	-	2	375	c.194G>C	c.(193-195)aGa>aCa	p.R65T	FSD2_ENST00000541889.1_Missense_Mutation_p.R65T			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	65										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TTGAAGGTCTCTTTGAGCCTT	0.438																																						uc002bjd.2		NA																	0				central_nervous_system(1)	1						c.(193-195)AGA>ACA		fibronectin type III and SPRY domain containing							178.0	173.0	174.0					15																	83455949		1995	4168	6163	SO:0001583	missense	123722							g.chr15:83455949C>G	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.194G>C	15.37:g.83455949C>G	ENSP00000335651:p.Arg65Thr					FSD2_uc010uol.1_Missense_Mutation_p.R65T|FSD2_uc010uom.1_Missense_Mutation_p.R65T	p.R65T	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			2	361	-			65					B3KVG1|B7ZM02	Missense_Mutation	SNP	ENST00000334574.8	37	c.194G>C	CCDS45332.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257488	0.39896	.	.	ENSG00000186628	ENST00000334574;ENST00000541889	T;T	0.46063	0.88;0.88	4.35	3.34	0.38264	.	0.685440	0.13355	N	0.394129	T	0.27454	0.0674	L	0.36672	1.1	0.09310	N	1	B;B	0.25105	0.007;0.118	B;B	0.19666	0.003;0.026	T	0.07102	-1.0790	10	0.24483	T	0.36	-4.4815	4.5757	0.12232	0.0:0.4299:0.4069:0.1632	.	65;65	B7ZM02;A1L4K1	.;FSD2_HUMAN	T	65	ENSP00000335651:R65T;ENSP00000444078:R65T	ENSP00000335651:R65T	R	-	2	0	FSD2	81253003	0.000000	0.05858	0.022000	0.16811	0.986000	0.74619	-0.304000	0.08199	2.255000	0.74692	0.655000	0.94253	AGA		0.438	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		44	127	0	0	0	0	44	127				
FES	2242	broad.mit.edu	37	15	91428286	91428286	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr15:91428286C>T	ENST00000328850.3	+	2	153	c.11C>T	c.(10-12)tCt>tTt	p.S4F	FES_ENST00000394300.3_Missense_Mutation_p.S4F|FES_ENST00000414248.2_Missense_Mutation_p.S4F|FES_ENST00000394302.1_Missense_Mutation_p.S4F|FES_ENST00000444422.2_Missense_Mutation_p.S4F|FES_ENST00000450438.2_Missense_Mutation_p.S4F	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	FES proto-oncogene, tyrosine kinase	4	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.|Important for interaction with membranes containing phosphoinositides.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of mast cell degranulation (GO:0043304)|regulation of vesicle-mediated transport (GO:0060627)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|microtubule cytoskeleton (GO:0015630)	ATP binding (GO:0005524)|immunoglobulin receptor binding (GO:0034987)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol binding (GO:0035091)|protein tyrosine kinase activity (GO:0004713)			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ATGGGCTTCTCTTCCGAGCTG	0.632																																						uc002bpv.2		NA																	0				lung(2)	2						c.(10-12)TCT>TTT		feline sarcoma oncogene isoform 1							107.0	119.0	115.0					15																	91428286		2198	4298	6496	SO:0001583	missense	2242				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr15:91428286C>T	X52192	CCDS10365.1, CCDS45349.1, CCDS45350.1, CCDS45351.1	15q26.1	2014-06-26	2014-06-26		ENSG00000182511	ENSG00000182511	2.7.10.1	"""SH2 domain containing"""	3657	protein-coding gene	gene with protein product	"""Oncogene FES, feline sarcoma virus"", ""c-fes/fps protein"""	190030	"""feline sarcoma (Snyder-Theilen) viral (v-fes)/Fujinami avian sarcoma (PRCII) viral (v-fps) oncogene homolog"", ""feline sarcoma oncogene"""			1870997	Standard	NM_002005		Approved	FPS	uc002bpv.3	P07332	OTTHUMG00000044456	ENST00000328850.3:c.11C>T	15.37:g.91428286C>T	ENSP00000331504:p.Ser4Phe					FES_uc010uqj.1_Missense_Mutation_p.S4F|FES_uc010uqk.1_Missense_Mutation_p.S4F|FES_uc002bpw.2_RNA|FES_uc010bny.2_Missense_Mutation_p.S4F|FES_uc002bpx.2_Missense_Mutation_p.S4F|FES_uc002bpy.2_Missense_Mutation_p.S4F	p.S4F	NM_002005	NP_001996	P07332	FES_HUMAN	Lung(145;0.229)		2	107	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		4			FCH.|Important for interaction with membranes containing phosphoinositides.		B2R6E6|B4DUD0|E9PC94|E9PC95|Q2VXS7|Q2VXS8|Q2VXT0|Q6GTU5	Missense_Mutation	SNP	ENST00000328850.3	37	c.11C>T	CCDS10365.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135940	0.56936	.	.	ENSG00000182511	ENST00000416779;ENST00000328850;ENST00000414248;ENST00000394302;ENST00000452243;ENST00000443697;ENST00000444422;ENST00000394300;ENST00000450438	T;T;T;T;T;T;T;T;T	0.18338	2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22;2.22	4.89	4.89	0.63831	Fps/Fes/Fer/CIP4 homology (3);	0.114388	0.56097	D	0.000022	T	0.39708	0.1088	M	0.65498	2.005	0.30655	N	0.755001	D;D;D;D;D;D	0.76494	0.984;0.998;0.998;0.989;0.999;0.984	D;D;D;P;D;D	0.83275	0.914;0.992;0.996;0.861;0.996;0.914	T	0.35101	-0.9802	10	0.72032	D	0.01	-17.9607	13.9429	0.64066	0.0:0.8028:0.1972:0.0	.	4;4;4;4;4;4	B4DUD9;P07332-2;E7ENM8;P07332-3;P07332-4;P07332	.;.;.;.;.;FES_HUMAN	F	4	ENSP00000410477:S4F;ENSP00000331504:S4F;ENSP00000414629:S4F;ENSP00000377839:S4F;ENSP00000392696:S4F;ENSP00000395425:S4F;ENSP00000400868:S4F;ENSP00000377837:S4F;ENSP00000409915:S4F	ENSP00000331504:S4F	S	+	2	0	FES	89229290	1.000000	0.71417	0.991000	0.47740	0.460000	0.32559	3.414000	0.52693	2.566000	0.86566	0.650000	0.86243	TCT		0.632	FES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313497.1	NM_002005		56	206	0	0	0	0	56	206				
WDR90	197335	broad.mit.edu	37	16	716348	716348	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:716348G>C	ENST00000293879.4	+	37	4738	c.4738G>C	c.(4738-4740)Gag>Cag	p.E1580Q	WDR90_ENST00000547944.1_Missense_Mutation_p.E179Q|WDR90_ENST00000315764.4_Missense_Mutation_p.E179Q|WDR90_ENST00000547543.1_3'UTR|RHOT2_ENST00000315082.4_5'Flank|WDR90_ENST00000549091.1_Missense_Mutation_p.E1582Q			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1580										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CACGTGCAAAGAGGTAAAGCA	0.637																																						uc002cii.1		NA																	0				ovary(1)	1						c.(4738-4740)GAG>CAG		WD repeat domain 90							46.0	53.0	51.0					16																	716348		1964	4143	6107	SO:0001583	missense	197335							g.chr16:716348G>C	AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4738G>C	16.37:g.716348G>C	ENSP00000293879:p.Glu1580Gln					WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_RNA|WDR90_uc002cin.1_Missense_Mutation_p.E195Q|WDR90_uc010uul.1_Missense_Mutation_p.E179Q|WDR90_uc002cio.1_Missense_Mutation_p.E179Q|WDR90_uc010bqx.1_Missense_Mutation_p.E179Q|RHOT2_uc010uum.1_5'Flank|RHOT2_uc002cip.2_5'Flank|RHOT2_uc002ciq.2_5'Flank	p.E1580Q	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN			37	4792	+		Hepatocellular(780;0.0218)	1580			WD 20.		Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	ENST00000293879.4	37	c.4738G>C	CCDS42092.1	.	.	.	.	.	.	.	.	.	.	G	3.398	-0.122896	0.06795	.	.	ENSG00000161996	ENST00000549091;ENST00000293879;ENST00000547944;ENST00000315764	T;T;T;T	0.29397	1.61;1.57;3.62;3.92	3.96	3.0	0.34707	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.488802	0.22785	N	0.055678	T	0.17238	0.0414	L	0.37897	1.145	0.42195	D	0.991749	B;B;P;B	0.40970	0.147;0.111;0.734;0.179	B;B;B;B	0.35470	0.09;0.025;0.203;0.057	T	0.06180	-1.0841	10	0.15066	T	0.55	.	5.6913	0.17831	0.111:0.2191:0.6698:0.0	.	179;179;179;1580	Q96KV7-10;Q96KV7-7;G3V201;Q96KV7	.;.;.;WDR90_HUMAN	Q	1582;1580;179;179	ENSP00000448122:E1582Q;ENSP00000293879:E1580Q;ENSP00000449576:E179Q;ENSP00000322808:E179Q	ENSP00000293879:E1580Q	E	+	1	0	WDR90	656349	0.998000	0.40836	0.498000	0.27564	0.124000	0.20399	2.439000	0.44846	0.884000	0.36064	0.561000	0.74099	GAG		0.637	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404335.1	NM_145294		13	118	0	0	0	0	13	118				
GNPTG	84572	broad.mit.edu	37	16	1399476	1399476	+	5'Flank	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:1399476C>A	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_Nonsense_Mutation_p.E301*	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit						carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				TTCCAAACCTCAGCCGGGGCC	0.597																																						uc002cll.2		NA																	0					0						c.(901-903)GAG>TAG		hypothetical protein LOC115939							154.0	180.0	171.0					16																	1399476		2199	4300	6499	SO:0001631	upstream_gene_variant	115939				rRNA processing			g.chr16:1399476C>A	BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835		16.37:g.1399476C>A	Exception_encountered					GNPTG_uc002clm.2_5'Flank	p.E301*	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN			6	969	-		Hepatocellular(780;0.0893)	301					B2R556|Q6XYD7|Q96L13	Nonsense_Mutation	SNP	ENST00000204679.4	37	c.901G>T	CCDS10436.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658185	0.47467	.	.	ENSG00000007520	ENST00000007390	.	.	.	4.8	-0.979	0.10276	.	0.694331	0.13246	N	0.402454	.	.	.	.	.	.	0.38824	D	0.955696	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.9745	6.3903	0.21583	0.0:0.385:0.4397:0.1752	.	.	.	.	X	301	.	ENSP00000007390:E301X	E	-	1	0	C16orf42	1339477	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.326000	0.19646	-0.440000	0.07211	-0.140000	0.14226	GAG		0.597	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109058.2	NM_032520		133	404	1	0	1.03e-63	1.14e-63	133	404				
IGFALS	3483	broad.mit.edu	37	16	1840972	1840972	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:1840972G>A	ENST00000215539.3	-	2	1557	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	IGFALS_ENST00000415638.3_Missense_Mutation_p.R521W			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	483					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						CAGAAGGCCCGCTGCAGGGGG	0.697																																						uc002cmy.2		NA																	0					0						c.(1447-1449)CGG>TGG		insulin-like growth factor binding protein, acid							8.0	10.0	10.0					16																	1840972		2135	4241	6376	SO:0001583	missense	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1840972G>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.1447C>T	16.37:g.1840972G>A	ENSP00000215539:p.Arg483Trp					IGFALS_uc010uvn.1_Missense_Mutation_p.R521W|IGFALS_uc010uvo.1_Missense_Mutation_p.R117W	p.R483W	NM_004970	NP_004961	P35858	ALS_HUMAN			2	1528	-			483			LRR 18.		B4DZY8|E9PGU3	Missense_Mutation	SNP	ENST00000215539.3	37	c.1447C>T	CCDS10446.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323046	0.24080	.	.	ENSG00000099769	ENST00000215539;ENST00000415638	T;T	0.58940	0.3;0.3	4.38	3.42	0.39159	.	0.810108	0.10659	N	0.648914	T	0.65995	0.2745	L	0.52823	1.66	0.47819	D	0.999529	D;D	0.76494	0.999;0.999	P;P	0.60609	0.825;0.877	T	0.61168	-0.7117	10	0.56958	D	0.05	.	7.4437	0.27198	0.0921:0.0:0.7429:0.165	.	521;483	E9PGU3;P35858	.;ALS_HUMAN	W	483;521	ENSP00000215539:R483W;ENSP00000416683:R521W	ENSP00000215539:R483W	R	-	1	2	IGFALS	1780973	0.241000	0.23857	0.929000	0.37066	0.852000	0.48524	2.120000	0.41968	0.959000	0.37980	0.561000	0.74099	CGG		0.697	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2			12	24	0	0	0	0	12	24				
TBL3	10607	broad.mit.edu	37	16	2025598	2025598	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:2025598G>C	ENST00000568546.1	+	10	1002	c.874G>C	c.(874-876)Ggg>Cgg	p.G292R		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	292					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCCGGGCCCTGGGCAGGAGCT	0.697																																					Melanoma(118;616 1651 35077 38081 48633)	uc002cnu.1		NA																	0					0						c.(874-876)GGG>CGG		transducin beta-like 3							18.0	20.0	20.0					16																	2025598		2192	4294	6486	SO:0001583	missense	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2025598G>C	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.874G>C	16.37:g.2025598G>C	ENSP00000454836:p.Gly292Arg					TBL3_uc002cnv.1_Missense_Mutation_p.G178R|TBL3_uc010bsb.1_Missense_Mutation_p.G81R|TBL3_uc010bsc.1_Missense_Mutation_p.G178R|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	p.G292R	NM_006453	NP_006444	Q12788	TBL3_HUMAN			10	976	+			292			WD 6.		Q59GD6|Q8IVB7|Q96A78	Missense_Mutation	SNP	ENST00000568546.1	37	c.874G>C	CCDS10453.1	.	.	.	.	.	.	.	.	.	.	g	1.561	-0.536706	0.04082	.	.	ENSG00000183751	ENST00000332704	.	.	.	5.17	0.915	0.19366	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.770143	0.11808	N	0.527427	T	0.17450	0.0419	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.09022	0.0;0.002	B;B	0.06405	0.001;0.002	T	0.27706	-1.0066	9	0.15952	T	0.53	-12.0666	2.3065	0.04175	0.2162:0.2396:0.4273:0.1168	.	54;292	A0JLS5;Q12788	.;TBL3_HUMAN	R	292	.	ENSP00000331815:G292R	G	+	1	0	TBL3	1965599	0.889000	0.30405	0.410000	0.26471	0.018000	0.09664	0.286000	0.18902	-0.036000	0.13669	-0.119000	0.15052	GGG		0.697	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453		7	24	0	0	0	0	7	24				
SRRM2	23524	broad.mit.edu	37	16	2812868	2812868	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:2812868C>T	ENST00000301740.8	+	11	2888	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	780	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CGCAGCCTTTCAGGGTCTTCC	0.517																																						uc002crk.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(2338-2340)TCA>TTA		splicing coactivator subunit SRm300							179.0	182.0	181.0					16																	2812868		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812868C>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2339C>T	16.37:g.2812868C>T	ENSP00000301740:p.Ser780Leu					SRRM2_uc002crj.1_Missense_Mutation_p.S684L|SRRM2_uc002crl.1_Missense_Mutation_p.S780L|SRRM2_uc010bsu.1_Missense_Mutation_p.S684L	p.S780L	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	2888	+			780			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.2339C>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	C	10.96	1.497932	0.26861	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.35236	1.32	5.73	5.73	0.89815	.	0.000000	0.52532	D	0.000078	T	0.42944	0.1225	L	0.27053	0.805	0.43719	D	0.996192	D	0.58268	0.982	P	0.55545	0.778	T	0.32587	-0.9901	10	0.66056	D	0.02	-13.4305	17.3941	0.87440	0.0:1.0:0.0:0.0	.	780	Q9UQ35	SRRM2_HUMAN	L	780;780;32;745	ENSP00000301740:S780L	ENSP00000301740:S780L	S	+	2	0	SRRM2	2752869	1.000000	0.71417	0.995000	0.50966	0.951000	0.60555	4.492000	0.60334	2.709000	0.92574	0.655000	0.94253	TCA		0.517	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			69	337	0	0	0	0	69	337				
SLX4	84464	broad.mit.edu	37	16	3632510	3632510	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:3632510C>T	ENST00000294008.3	-	15	5978	c.5338G>A	c.(5338-5340)Gag>Aag	p.E1780K	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1780	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GCCTGCAGCTCCCGCAGCTCA	0.647								Direct reversal of damage																														uc002cvp.2		NA																	0					0						c.(5338-5340)GAG>AAG	Direct_reversal_of_damage|Homologous_recombination	BTB (POZ) domain containing 12							100.0	96.0	97.0					16																	3632510		2197	4300	6497	SO:0001583	missense	84464	Fanconi_Anemia			DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding	g.chr16:3632510C>T	AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.5338G>A	16.37:g.3632510C>T	ENSP00000294008:p.Glu1780Lys						p.E1780K	NM_032444	NP_115820	Q8IY92	SLX4_HUMAN			15	5965	-			1780			Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.		Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	ENST00000294008.3	37	c.5338G>A	CCDS10506.2	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592945	0.46214	.	.	ENSG00000188827	ENST00000294008	T	0.01221	5.15	5.4	4.44	0.53790	.	0.406807	0.27749	N	0.018012	T	0.01627	0.0052	L	0.34521	1.04	0.31246	N	0.694642	P	0.36874	0.572	B	0.31101	0.124	T	0.25467	-1.0131	10	0.59425	D	0.04	.	15.2332	0.73407	0.0:0.8589:0.1411:0.0	.	1780	Q8IY92	SLX4_HUMAN	K	1780	ENSP00000294008:E1780K	ENSP00000294008:E1780K	E	-	1	0	SLX4	3572511	0.336000	0.24757	0.835000	0.33067	0.795000	0.44927	3.199000	0.51043	1.287000	0.44583	0.462000	0.41574	GAG		0.647	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157301.3	NM_032444		30	136	0	0	0	0	30	136				
TMEM186	25880	broad.mit.edu	37	16	8890280	8890280	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:8890280C>G	ENST00000333050.6	-	2	204	c.171G>C	c.(169-171)tgG>tgC	p.W57C	PMM2_ENST00000566983.1_Intron|TMEM186_ENST00000564869.1_Intron|PMM2_ENST00000539622.1_5'Flank|PMM2_ENST00000268261.4_5'Flank|PMM2_ENST00000537352.1_5'Flank|PMM2_ENST00000569958.1_5'Flank	NM_015421.3	NP_056236.2	Q96B77	TM186_HUMAN	transmembrane protein 186	57						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						GGTAAAACATCCAGAATTTCT	0.522																																						uc002cze.2		NA																	0				ovary(1)	1						c.(169-171)TGG>TGC		transmembrane protein 186							140.0	139.0	140.0					16																	8890280		2197	4300	6497	SO:0001583	missense	25880					integral to membrane|mitochondrion		g.chr16:8890280C>G	BC015912	CCDS10535.1	16p13.2	2008-02-05	2007-02-08	2007-02-08	ENSG00000184857	ENSG00000184857			24530	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 51"""	C16orf51		11230166	Standard	NM_015421		Approved	DKFZP564K2062	uc002cze.3	Q96B77	OTTHUMG00000129696	ENST00000333050.6:c.171G>C	16.37:g.8890280C>G	ENSP00000331640:p.Trp57Cys					PMM2_uc002czf.3_5'Flank|PMM2_uc010uyf.1_5'Flank|PMM2_uc010uyg.1_5'Flank|PMM2_uc010uyh.1_5'Flank|PMM2_uc010buj.2_5'Flank|PMM2_uc010uyi.1_5'Flank|PMM2_uc010uye.1_5'Flank	p.W57C	NM_015421	NP_056236	Q96B77	TM186_HUMAN			2	205	-			57					B2RAY0|Q9Y4T4	Missense_Mutation	SNP	ENST00000333050.6	37	c.171G>C	CCDS10535.1	.	.	.	.	.	.	.	.	.	.	C	4.364	0.067067	0.08388	.	.	ENSG00000184857	ENST00000333050	.	.	.	5.18	-3.66	0.04489	.	1.254040	0.05766	N	0.605741	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	P	0.38617	0.64	B	0.24541	0.054	T	0.25398	-1.0133	9	0.52906	T	0.07	6.5206	9.5399	0.39246	0.0997:0.2653:0.5664:0.0686	.	57	Q96B77	TM186_HUMAN	C	57	.	ENSP00000331640:W57C	W	-	3	0	TMEM186	8797781	0.000000	0.05858	0.001000	0.08648	0.199000	0.23934	-1.236000	0.02925	-0.394000	0.07727	-1.099000	0.02127	TGG		0.522	TMEM186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251903.1	NM_015421		26	209	0	0	0	0	26	209				
CPPED1	55313	broad.mit.edu	37	16	12758885	12758885	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:12758885C>T	ENST00000381774.4	-	4	1043	c.803G>A	c.(802-804)gGa>gAa	p.G268E	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Missense_Mutation_p.G126E	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	268						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CAGCTGGCATCCAATGGCAGA	0.562																																						uc002dca.3		NA																	0					0						c.(802-804)GGA>GAA		calcineurin-like phosphoesterase domain							71.0	71.0	71.0					16																	12758885		1956	4167	6123	SO:0001583	missense	55313						hydrolase activity|metal ion binding	g.chr16:12758885C>T	AK022710	CCDS42119.1, CCDS42120.1	16p13.12	2014-02-12	2009-03-13		ENSG00000103381	ENSG00000103381			25632	protein-coding gene	gene with protein product	"""complete S transactivated protein 1"""	615603				12477932	Standard	NM_018340		Approved	CSTP1, FLJ11151	uc002dca.4	Q9BRF8	OTTHUMG00000167711	ENST00000381774.4:c.803G>A	16.37:g.12758885C>T	ENSP00000371193:p.Gly268Glu					CPPED1_uc002dcb.3_Missense_Mutation_p.G126E|CPPED1_uc002dbz.3_RNA	p.G268E	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN			4	914	-			268					B4DQ68|Q6MZY9|Q9H9M9|Q9NUT6	Missense_Mutation	SNP	ENST00000381774.4	37	c.803G>A	CCDS42120.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412932	0.83449	.	.	ENSG00000103381	ENST00000381774;ENST00000433677	T;D	0.95171	-0.81;-3.63	5.55	5.55	0.83447	.	0.096944	0.64402	D	0.000001	D	0.97368	0.9139	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	D	0.97747	1.0212	10	0.87932	D	0	-8.0345	17.3655	0.87363	0.0:1.0:0.0:0.0	.	126;268	Q9BRF8-2;Q9BRF8	.;CPPED_HUMAN	E	268;126	ENSP00000371193:G268E;ENSP00000411127:G126E	ENSP00000371193:G268E	G	-	2	0	CPPED1	12666386	1.000000	0.71417	0.986000	0.45419	0.396000	0.30629	7.447000	0.80620	2.768000	0.95171	0.655000	0.94253	GGA		0.562	CPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395795.2	NM_018340		7	86	0	0	0	0	7	86				
UMOD	7369	broad.mit.edu	37	16	20348623	20348623	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:20348623T>C	ENST00000570689.1	-	8	1876	c.1730A>G	c.(1729-1731)aAg>aGg	p.K577R	UMOD_ENST00000424589.1_Missense_Mutation_p.K610R|UMOD_ENST00000302509.4_Missense_Mutation_p.K577R|UMOD_ENST00000396134.2_Missense_Mutation_p.K610R|UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000396138.4_Missense_Mutation_p.K626R|UMOD_ENST00000396142.2_Missense_Mutation_p.K577R			P07911	UROM_HUMAN	uromodulin	577	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGCTTGCACTTTTCATTCAT	0.473																																						uc002dgz.2		NA																	0				ovary(1)|skin(1)	2						c.(1729-1731)AAG>AGG		uromodulin precursor							73.0	67.0	69.0					16																	20348623		2203	4300	6503	SO:0001583	missense	7369				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	g.chr16:20348623T>C	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1730A>G	16.37:g.20348623T>C	ENSP00000460548:p.Lys577Arg					UMOD_uc002dha.2_Missense_Mutation_p.K577R|UMOD_uc002dhb.2_Missense_Mutation_p.K610R	p.K577R	NM_003361	NP_003352	P07911	UROM_HUMAN			8	1859	-			577			ZP.		B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Missense_Mutation	SNP	ENST00000570689.1	37	c.1730A>G	CCDS10583.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344146	0.24339	.	.	ENSG00000169344	ENST00000396138;ENST00000396134;ENST00000424589;ENST00000302509;ENST00000429954;ENST00000396142	T;T;T;T	0.80123	-1.34;-1.34;-1.33;-1.33	5.62	4.53	0.55603	Zona pellucida sperm-binding protein (3);	0.614588	0.15367	N	0.266069	T	0.66025	0.2748	N	0.17082	0.46	0.19300	N	0.99998	P;B	0.39352	0.669;0.434	B;B	0.43018	0.265;0.405	T	0.54302	-0.8314	10	0.11794	T	0.64	-9.0974	5.7614	0.18203	0.0:0.0858:0.17:0.7442	.	610;577	E9PEA4;P07911	.;UROM_HUMAN	R	577;610;610;577;555;577	ENSP00000379438:K610R;ENSP00000416346:K610R;ENSP00000306279:K577R;ENSP00000379446:K577R	ENSP00000306279:K577R	K	-	2	0	UMOD	20256124	0.007000	0.16637	0.696000	0.30242	0.929000	0.56500	1.166000	0.31834	0.959000	0.37980	0.533000	0.62120	AAG		0.473	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1			13	28	0	0	0	0	13	28				
IRX5	10265	broad.mit.edu	37	16	54966471	54966471	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:54966471C>T	ENST00000394636.4	+	2	648	c.311C>T	c.(310-312)gCg>gTg	p.A104V	IRX5_ENST00000560154.1_Intron|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000320990.5_Missense_Mutation_p.A104V|IRX5_ENST00000558597.1_Missense_Mutation_p.A38V			P78411	IRX5_HUMAN	iroquois homeobox 5	104					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CCTTACGCGGCGCCCCTGGGA	0.662																																						uc002ehv.2		NA																	0					0						c.(310-312)GCG>GTG		iroquois homeobox protein 5							61.0	61.0	61.0					16																	54966471		2198	4300	6498	SO:0001583	missense	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54966471C>T	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.311C>T	16.37:g.54966471C>T	ENSP00000378132:p.Ala104Val					IRX5_uc010cca.1_Missense_Mutation_p.A156V|IRX5_uc002ehw.2_Missense_Mutation_p.A38V	p.A104V	NM_005853	NP_005844	P78411	IRX5_HUMAN			2	311	+			104					H0YMS7|P78416|Q7Z2E1	Missense_Mutation	SNP	ENST00000394636.4	37	c.311C>T	CCDS10751.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313735	0.81358	.	.	ENSG00000176842	ENST00000394636;ENST00000320990	T;T	0.60171	0.21;0.22	4.58	4.58	0.56647	Homeodomain-like (1);	0.053328	0.64402	D	0.000001	T	0.49338	0.1551	N	0.22421	0.69	0.58432	D	0.999998	D	0.53151	0.958	P	0.47015	0.534	T	0.44003	-0.9356	10	0.23891	T	0.37	-13.5649	17.1631	0.86809	0.0:1.0:0.0:0.0	.	104	P78411	IRX5_HUMAN	V	104	ENSP00000378132:A104V;ENSP00000316250:A104V	ENSP00000316250:A104V	A	+	2	0	IRX5	53523972	1.000000	0.71417	0.809000	0.32408	0.677000	0.39632	7.241000	0.78201	2.366000	0.80165	0.655000	0.94253	GCG		0.662	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			14	49	0	0	0	0	14	49				
CES1	1066	broad.mit.edu	37	16	55844472	55844472	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:55844472C>G	ENST00000361503.4	-	11	1402	c.1272G>C	c.(1270-1272)gtG>gtC	p.V424V	CES1_ENST00000360526.3_Silent_p.V425V|CES1_ENST00000422046.2_Silent_p.V423V			P23141	EST1_HUMAN	carboxylesterase 1	424					epithelial cell differentiation (GO:0030855)|metabolic process (GO:0008152)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)	carboxylic ester hydrolase activity (GO:0052689)|methylumbelliferyl-acetate deacetylase activity (GO:0047374)								all cancers(182;0.13)|Epithelial(162;0.137)	Benzocaine(DB01086)|Capecitabine(DB01101)|Ciclesonide(DB01410)|Clopidogrel(DB00758)|Cyclandelate(DB04838)|Dabigatran etexilate(DB06695)|Indomethacin(DB00328)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Mycophenolate mofetil(DB00688)|Oseltamivir(DB00198)|Probucol(DB01599)|Rufinamide(DB06201)|Tamoxifen(DB00675)|Trandolapril(DB00519)	CACCAAACATCACATCTGCTA	0.498																																					NSCLC(162;1801 2756 42904 52896)	uc002eim.2		NA																	0					0						c.(1270-1272)GTG>GTC		carboxylesterase 1 isoform b precursor	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)						192.0	197.0	195.0					16																	55844472		2198	4300	6498	SO:0001819	synonymous_variant	1066				response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity	g.chr16:55844472C>G	BC012418	CCDS32450.1, CCDS45488.1, CCDS45489.1	16q22.2	2010-10-12	2010-10-12		ENSG00000198848	ENSG00000198848	3.1.1.1	"""Carboxylesterases"""	1863	protein-coding gene	gene with protein product	"""human monocyte/macrophage serine esterase 1"""	114835	"""carboxylesterase 1 (monocyte/macrophage serine esterase 1)"""			2070086, 20931200	Standard	XM_005255774		Approved	HMSE, CES2, HMSE1, SES1, CEH, CES1A1, CES1A2	uc002eil.3	P23141		ENST00000361503.4:c.1272G>C	16.37:g.55844472C>G						CES1_uc010ccf.2_Silent_p.V99V|CES1_uc002eil.2_Silent_p.V425V|CES1_uc002ein.2_Silent_p.V423V	p.V424V	NM_001025194	NP_001020365	P23141	EST1_HUMAN		all cancers(182;0.13)|Epithelial(162;0.137)	11	1380	-			424					A6NIM1|A8K3K8|A8K844|E9PAU8|P82127|Q00015|Q13657|Q14062|Q16737|Q16788|Q549X7|Q549X8|Q86UK2|Q96EE8|Q9UC52|Q9UDG8|Q9UK77|Q9ULY2	Silent	SNP	ENST00000361503.4	37	c.1272G>C	CCDS45488.1																																																																																				0.498	CES1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000433285.1	NM_001266		35	112	0	0	0	0	35	112				
SF3B3	23450	broad.mit.edu	37	16	70597814	70597814	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:70597814A>G	ENST00000302516.5	+	18	2535	c.2324A>G	c.(2323-2325)aAt>aGt	p.N775S		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	775					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|protein complex assembly (GO:0006461)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleic acid binding (GO:0003676)			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCTGTCTTCAATCAAGTAGCC	0.428																																						uc002ezf.2		NA																	0				ovary(1)	1						c.(2323-2325)AAT>AGT		splicing factor 3b, subunit 3							190.0	175.0	180.0					16																	70597814		2198	4300	6498	SO:0001583	missense	23450				protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr16:70597814A>G	AJ001443	CCDS10894.1	16q22	2008-08-01	2002-08-29		ENSG00000189091	ENSG00000189091			10770	protein-coding gene	gene with protein product		605592	"""splicing factor 3b, subunit 3, 130kD"""			10490618	Standard	NM_012426		Approved	SAP130, SF3b130, RSE1, KIAA0017	uc002ezf.3	Q15393	OTTHUMG00000137582	ENST00000302516.5:c.2324A>G	16.37:g.70597814A>G	ENSP00000305790:p.Asn775Ser						p.N775S	NM_012426	NP_036558	Q15393	SF3B3_HUMAN			18	2535	+		Ovarian(137;0.0694)	775					Q6NTI8|Q96GC0|Q9BPY2|Q9UFX7|Q9UJ29	Missense_Mutation	SNP	ENST00000302516.5	37	c.2324A>G	CCDS10894.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.636883	0.87760	.	.	ENSG00000189091	ENST00000302516	T	0.16324	2.35	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.24122	0.0584	M	0.75615	2.305	0.80722	D	1	P	0.38420	0.63	B	0.41466	0.358	T	0.06285	-1.0835	10	0.08381	T	0.77	-19.7728	15.6284	0.76882	1.0:0.0:0.0:0.0	.	775	Q15393	SF3B3_HUMAN	S	775	ENSP00000305790:N775S	ENSP00000305790:N775S	N	+	2	0	SF3B3	69155315	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.155000	0.67459	0.533000	0.62120	AAT		0.428	SF3B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268972.1	NM_012426		38	85	0	0	0	0	38	85				
KARS	3735	broad.mit.edu	37	16	75674163	75674163	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr16:75674163T>A	ENST00000302445.3	-	3	346	c.307A>T	c.(307-309)Atc>Ttc	p.I103F	KARS_ENST00000568378.1_Intron|KARS_ENST00000319410.5_Missense_Mutation_p.I131F	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	103					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GTGAGTGAGATGTCTACATGG	0.448																																						uc002feq.2		NA																	0				ovary(2)	2						c.(307-309)ATC>TTC		lysyl-tRNA synthetase isoform 2	L-Lysine(DB00123)						249.0	243.0	245.0					16																	75674163		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75674163T>A	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.307A>T	16.37:g.75674163T>A	ENSP00000303043:p.Ile103Phe					KARS_uc002fer.2_Missense_Mutation_p.I131F|KARS_uc002fes.2_Intron|KARS_uc010cgz.2_5'UTR	p.I103F	NM_005548	NP_005539	Q15046	SYK_HUMAN			3	355	-			103					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.307A>T	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.785859	0.31593	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.63744	-0.06;-0.06	5.89	3.65	0.41850	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.390425	0.29900	N	0.010910	T	0.52980	0.1768	M	0.76328	2.33	0.80722	D	1	B;B	0.32968	0.004;0.392	B;B	0.31290	0.014;0.127	T	0.40757	-0.9546	10	0.10636	T	0.68	-17.0854	5.2643	0.15591	0.1322:0.1476:0.0:0.7202	.	131;103	Q15046-2;Q15046	.;SYK_HUMAN	F	131;103	ENSP00000325448:I131F;ENSP00000303043:I103F	ENSP00000303043:I103F	I	-	1	0	KARS	74231664	0.754000	0.28360	0.991000	0.47740	0.984000	0.73092	-0.198000	0.09505	0.492000	0.27815	0.533000	0.62120	ATC		0.448	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		68	238	0	0	0	0	68	238				
RPA1	6117	broad.mit.edu	37	17	1787118	1787118	+	Silent	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:1787118A>G	ENST00000254719.5	+	13	1364	c.1254A>G	c.(1252-1254)gaA>gaG	p.E418E		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	418					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						TTGACGCAGAAGGACAAGCCT	0.488								Nucleotide excision repair (NER)																														uc002fto.2		NA																	0					0						c.(1252-1254)GAA>GAG	NER	replication protein A1							185.0	160.0	169.0					17																	1787118		2203	4300	6503	SO:0001819	synonymous_variant	6117				cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding	g.chr17:1787118A>G	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1254A>G	17.37:g.1787118A>G							p.E418E	NM_002945	NP_002936	P27694	RFA1_HUMAN			13	1369	+			418					A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	37	c.1254A>G	CCDS11014.1																																																																																				0.488	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	NM_002945		40	124	0	0	0	0	40	124				
TRPV3	162514	broad.mit.edu	37	17	3436163	3436163	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:3436163C>T	ENST00000576742.1	-	8	1174	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TRPV3_ENST00000301365.4_Missense_Mutation_p.E285K|TRPV3_ENST00000572519.1_Missense_Mutation_p.E285K	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	285					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCCGTCTGCTCGTGCTCCATC	0.602																																						uc002fvt.1		NA																	0				ovary(4)	4						c.(853-855)GAG>AAG		transient receptor potential cation channel,	Menthol(DB00825)						169.0	118.0	136.0					17																	3436163		2203	4300	6503	SO:0001583	missense	162514					integral to membrane	calcium channel activity	g.chr17:3436163C>T	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.853G>A	17.37:g.3436163C>T	ENSP00000461518:p.Glu285Lys					TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Missense_Mutation_p.E269K|TRPV3_uc010vri.1_Missense_Mutation_p.E240K|TRPV3_uc010vrj.1_Missense_Mutation_p.E269K|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Missense_Mutation_p.E269K|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Missense_Mutation_p.E285K|TRPV3_uc002fvu.2_Missense_Mutation_p.E285K|TRPV3_uc010vrn.1_5'Flank	p.E285K	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN			8	1175	-			285			ANK 2.|Cytoplasmic (Potential).		Q8NDW7|Q8NET9|Q8NFH2	Missense_Mutation	SNP	ENST00000576742.1	37	c.853G>A	CCDS11029.1	.	.	.	.	.	.	.	.	.	.	c	1.568	-0.534793	0.04082	.	.	ENSG00000167723	ENST00000381913;ENST00000301365;ENST00000430263	T	0.51817	0.69	5.05	1.95	0.26073	Ankyrin repeat-containing domain (3);	0.455087	0.21342	N	0.076117	T	0.13586	0.0329	N	0.00980	-1.08	0.09310	N	1	B;B;B;B;B;B;B	0.31680	0.001;0.001;0.004;0.001;0.335;0.004;0.003	B;B;B;B;B;B;B	0.24974	0.003;0.002;0.003;0.004;0.057;0.003;0.002	T	0.17471	-1.0368	10	0.19590	T	0.45	-8.8063	5.3558	0.16059	0.0:0.5635:0.1466:0.2899	.	269;269;285;269;285;285;285	E7EV24;B7ZKP9;Q2M3L1;B7ZKP6;Q8NET8-3;Q8NET8;Q8NET8-2	.;.;.;.;.;TRPV3_HUMAN;.	K	285;285;269	ENSP00000301365:E285K	ENSP00000301365:E285K	E	-	1	0	TRPV3	3382913	0.000000	0.05858	0.732000	0.30844	0.021000	0.10359	-0.144000	0.10280	0.647000	0.30713	-1.032000	0.02404	GAG		0.602	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068		11	20	0	0	0	0	11	20				
TP53	7157	broad.mit.edu	37	17	7577534	7577534	+	Missense_Mutation	SNP	C	C	A	rs28934571		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:7577534C>A	ENST00000269305.4	-	7	936	c.747G>T	c.(745-747)agG>agT	p.R249S	TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000420246.2_Missense_Mutation_p.R249S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934571). {ECO:0000269|PubMed:1694291, ECO:0000269|PubMed:16959974}.|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGAGGATGGGCCTCCGGTTCA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		378	Substitution - Missense(348)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Substitution - coding silent(5)|Insertion - Frameshift(1)|Insertion - In frame(1)|Deletion - Frameshift(1)|Complex - compound substitution(1)	p.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*19(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.P250fs*14(1)	liver(240)|lung(44)|upper_aerodigestive_tract(12)|breast(12)|central_nervous_system(10)|stomach(7)|ovary(6)|prostate(6)|cervix(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(5)|biliary_tract(5)|urinary_tract(5)|bone(4)|endometrium(3)|oesophagus(3)|skin(2)|peritoneum(1)|kidney(1)|salivary_gland(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(745-747)AGG>AGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							155.0	113.0	127.0					17																	7577534		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577534C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.747G>T	17.37:g.7577534C>A	ENSP00000269305:p.Arg249Ser	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R249S|TP53_uc002gih.2_Missense_Mutation_p.R249S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117S|TP53_uc010cng.1_Missense_Mutation_p.R117S|TP53_uc002gii.1_Missense_Mutation_p.R117S|TP53_uc010cnh.1_Missense_Mutation_p.R249S|TP53_uc010cni.1_Missense_Mutation_p.R249S|TP53_uc002gij.2_Missense_Mutation_p.R249S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156S|TP53_uc002gio.2_Missense_Mutation_p.R117S	p.R249S	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	941	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	249		R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.747G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344264	0.61073	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99865	-7.29;-7.29;-7.29;-7.29;-7.29;-7.29;-7.29	4.62	-0.0929	0.13654	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.92367	3.3	0.50039	D	0.999848	D;D;D;D;D	0.89917	0.996;0.996;0.997;0.99;1.0	D;D;D;D;D	0.79108	0.968;0.966;0.981;0.955;0.992	D	0.98720	1.0708	10	0.72032	D	0.01	-3.0658	3.2479	0.06803	0.1392:0.5551:0.1362:0.1695	rs28934571	249;249;249;249;249	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	249;249;249;249;249;249;238;117	ENSP00000410739:R249S;ENSP00000352610:R249S;ENSP00000269305:R249S;ENSP00000398846:R249S;ENSP00000391127:R249S;ENSP00000391478:R249S;ENSP00000425104:R117S	ENSP00000269305:R249S	R	-	3	2	TP53	7518259	0.011000	0.17503	0.998000	0.56505	0.783000	0.44284	-1.379000	0.02554	0.253000	0.21552	0.462000	0.41574	AGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		14	47	1	0	0.000422831	0.000437068	14	47				
TP53	7157	broad.mit.edu	37	17	7579698	7579698	+	Splice_Site	SNP	A	A	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:7579698A>C	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCTTGTCCTTACCAGAACGTT	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		10	Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.0?(7)|p.S33fs*10(1)|p.P13fs*18(1)	bone(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.e3+1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							41.0	41.0	41.0					17																	7579698		2202	4298	6500	SO:0001630	splice_region_variant	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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 by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579698A>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.96+1T>G	17.37:g.7579698A>C		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.L32_splice|TP53_uc002gih.2_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice	p.L32_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	290	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.96_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.292866	0.80914	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3467	0.38113	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520423	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.510000	0.45468	1.996000	0.58369	0.459000	0.35465	.		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	14	70	0	0	0	0	14	70				
GIT1	28964	broad.mit.edu	37	17	27908398	27908398	+	Splice_Site	SNP	T	T	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:27908398T>A	ENST00000225394.3	-	7	967	c.719A>T	c.(718-720)gAt>gTt	p.D240V	GIT1_ENST00000579937.1_Splice_Site_p.D240V|GIT1_ENST00000394869.3_Splice_Site_p.D240V|GIT1_ENST00000581348.1_Splice_Site_p.D240V|RP11-68I3.2_ENST00000581474.1_RNA	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	240					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		ATTCTTGTGATCTGAACAAAA	0.547																																					Colon(81;41 1719 20078 35068)	uc002hef.2		NA																	0					0						c.(718-720)GAT>GTT		G protein-coupled receptor kinase interactor 1							125.0	98.0	107.0					17																	27908398		2203	4300	6503	SO:0001630	splice_region_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27908398T>A	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.719-1A>T	17.37:g.27908398T>A						GIT1_uc002heg.2_Missense_Mutation_p.D240V|GIT1_uc010wbg.1_Missense_Mutation_p.D240V|GIT1_uc010csb.1_Missense_Mutation_p.D240V	p.D240V	NM_014030	NP_054749	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	7	933	-			240					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.719A>T	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	T	14.10	2.434154	0.43224	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.73047	-0.39;-0.71	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.83672	0.5305	M	0.82630	2.6	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.997;0.997	D;D;D;D	0.71656	0.974;0.972;0.939;0.917	D	0.86133	0.1576	10	0.87932	D	0	.	12.6815	0.56924	0.0:0.0:0.0:1.0	.	244;240;240;240	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	V	240	ENSP00000225394:D240V;ENSP00000378338:D240V	ENSP00000225394:D240V	D	-	2	0	GIT1	24932524	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.559000	0.82265	2.257000	0.74773	0.459000	0.35465	GAT		0.547	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030	Missense_Mutation	17	53	0	0	0	0	17	53				
CPD	1362	broad.mit.edu	37	17	28788939	28788939	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:28788939G>A	ENST00000225719.4	+	19	3751	c.3675G>A	c.(3673-3675)aaG>aaA	p.K1225K	CPD_ENST00000543464.2_Silent_p.K978K	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	1225	Carboxypeptidase-like 3.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGACTGGAAAGCCAATCTCTA	0.353																																						uc002hfb.1		NA																	0				liver(1)|skin(1)	2						c.(3673-3675)AAG>AAA		carboxypeptidase D precursor							97.0	101.0	100.0					17																	28788939		2203	4300	6503	SO:0001819	synonymous_variant	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28788939G>A	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.3675G>A	17.37:g.28788939G>A						CPD_uc010wbo.1_Silent_p.K978K|CPD_uc010wbp.1_Splice_Site	p.K1225K	NM_001304	NP_001295	O75976	CBPD_HUMAN			19	3690	+			1225			Extracellular (Potential).|Carboxypeptidase-like 3.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Silent	SNP	ENST00000225719.4	37	c.3675G>A	CCDS11257.1																																																																																				0.353	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		41	109	0	0	0	0	41	109				
TMEM132E	124842	broad.mit.edu	37	17	32964747	32964747	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:32964747C>G	ENST00000321639.5	+	10	2779	c.2451C>G	c.(2449-2451)atC>atG	p.I817M		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	817						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TCTTCCTCATCAACTGCATCG	0.632																																						uc002hif.2		NA																	0				central_nervous_system(1)	1						c.(2449-2451)ATC>ATG		transmembrane protein 132E precursor							80.0	75.0	77.0					17																	32964747		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32964747C>G	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2451C>G	17.37:g.32964747C>G	ENSP00000316532:p.Ile817Met						p.I817M	NM_207313	NP_997196	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	2779	+			817			Helical; (Potential).		Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2451C>G	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246508	0.59103	.	.	ENSG00000181291	ENST00000321639	T	0.22945	1.93	4.5	3.53	0.40419	.	0.000000	0.85682	D	0.000000	T	0.45895	0.1365	M	0.73962	2.25	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.41342	-0.9514	10	0.66056	D	0.02	-42.8047	6.988	0.24739	0.171:0.7405:0.0:0.0885	.	817	Q6IEE7	T132E_HUMAN	M	817	ENSP00000316532:I817M	ENSP00000316532:I817M	I	+	3	3	TMEM132E	29988860	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.461000	0.35255	1.122000	0.41944	0.478000	0.44815	ATC		0.632	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		18	98	0	0	0	0	18	98				
EIF1	10209	broad.mit.edu	37	17	39846111	39846111	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:39846111G>C	ENST00000469257.1	+	2	259	c.113G>C	c.(112-114)aGa>aCa	p.R38T	EIF1_ENST00000591776.1_Missense_Mutation_p.R38T|JUP_ENST00000540235.1_Intron|EIF1_ENST00000310837.4_Intron			P41567	EIF1_HUMAN	eukaryotic translation initiation factor 1	38					dosage compensation by inactivation of X chromosome (GO:0009048)|regulation of translational initiation (GO:0006446)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|skin(1)	5		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATTCAACAGAGAAACGGCAGG	0.423											OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Pancreas(176;1692 2837 16734 17588)	uc002hxj.2		NA																	0					0						c.(112-114)AGA>ACA		eukaryotic translation initiation factor 1							65.0	65.0	65.0					17																	39846111		2202	4300	6502	SO:0001583	missense	10209				regulation of translational initiation|response to stress	cytoplasm	translation initiation factor activity	g.chr17:39846111G>C	AF083441	CCDS11403.1	17q21.2	2006-02-02			ENSG00000173812	ENSG00000173812			3249	protein-coding gene	gene with protein product						7904817, 10347211	Standard	NM_005801		Approved	EIF-1, ISO1, A121, SUI1, EIF1A	uc002hxj.3	P41567	OTTHUMG00000133492	ENST00000469257.1:c.113G>C	17.37:g.39846111G>C	ENSP00000419449:p.Arg38Thr		OREG0024409	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	JUP_uc010wfs.1_Intron|EIF1_uc002hxk.2_Intron	p.R38T	NM_005801	NP_005792	P41567	EIF1_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.0677)		2	277	+		Breast(137;0.000307)	38					Q9UNQ9	Missense_Mutation	SNP	ENST00000469257.1	37	c.113G>C	CCDS11403.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445297	0.83993	.	.	ENSG00000173812	ENST00000469257	T	0.50813	0.73	5.18	5.18	0.71444	Translation initiation factor SUI1 (3);	0.000000	0.85682	D	0.000000	T	0.70334	0.3212	M	0.75150	2.29	0.80722	D	1	P	0.41265	0.744	P	0.62491	0.903	T	0.71810	-0.4480	10	0.87932	D	0	-4.4034	18.8739	0.92327	0.0:0.0:1.0:0.0	.	38	P41567	EIF1_HUMAN	T	38	ENSP00000419449:R38T	ENSP00000419449:R38T	R	+	2	0	EIF1	37099637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.581000	0.98210	2.690000	0.91761	0.462000	0.41574	AGA		0.423	EIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257390.1	NM_005801		27	60	0	0	0	0	27	60				
CNTNAP1	8506	broad.mit.edu	37	17	40843268	40843268	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:40843268G>C	ENST00000264638.4	+	14	2390	c.2173G>C	c.(2173-2175)Gac>Cac	p.D725H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	725	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GAGCTGTGTGGACCCTGCCTT	0.612																																						uc002iay.2		NA																	0				ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1)	8						c.(2173-2175)GAC>CAC		contactin associated protein 1 precursor							114.0	117.0	116.0					17																	40843268		2203	4300	6503	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40843268G>C	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.2173G>C	17.37:g.40843268G>C	ENSP00000264638:p.Asp725His					CNTNAP1_uc010wgs.1_RNA	p.D725H	NM_003632	NP_003623	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	14	2389	+		Breast(137;0.000143)	725			Extracellular (Potential).|Fibrinogen C-terminal.			Missense_Mutation	SNP	ENST00000264638.4	37	c.2173G>C	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584805	0.86748	.	.	ENSG00000108797	ENST00000264638	T	0.22539	1.95	5.41	5.41	0.78517	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.000000	0.64402	D	0.000001	T	0.52789	0.1756	M	0.86097	2.795	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.56691	-0.7937	10	0.51188	T	0.08	.	19.2006	0.93711	0.0:0.0:1.0:0.0	.	725	P78357	CNTP1_HUMAN	H	725	ENSP00000264638:D725H	ENSP00000264638:D725H	D	+	1	0	CNTNAP1	38096794	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.002000	0.88514	2.551000	0.86045	0.561000	0.74099	GAC		0.612	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		22	179	0	0	0	0	22	179				
AOC3	8639	broad.mit.edu	37	17	41008480	41008480	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:41008480G>C	ENST00000308423.2	+	4	2365	c.2205G>C	c.(2203-2205)gaG>gaC	p.E735D	AOC3_ENST00000591562.1_Missense_Mutation_p.E192D	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	735					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GGGCCTGCGAGGTCAACCCCC	0.622																																					NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2203-2205)GAG>GAC		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						14.0	15.0	15.0					17																	41008480		2185	4272	6457	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41008480G>C	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.2205G>C	17.37:g.41008480G>C	ENSP00000312326:p.Glu735Asp						p.E735D	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	4	2365	+		Breast(137;0.000143)	735			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.2205G>C	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319780	0.23994	.	.	ENSG00000131471	ENST00000308423	T	0.03635	3.86	4.91	3.91	0.45181	Copper amine oxidase, C-terminal (1);	0.520250	0.21043	N	0.081132	T	0.01695	0.0054	N	0.08118	0	0.24991	N	0.991539	B	0.02656	0.0	B	0.04013	0.001	T	0.46748	-0.9169	10	0.14252	T	0.57	.	2.9243	0.05779	0.0903:0.1577:0.4343:0.3178	.	735	Q16853	AOC3_HUMAN	D	735	ENSP00000312326:E735D	ENSP00000312326:E735D	E	+	3	2	AOC3	38262006	0.000000	0.05858	0.999000	0.59377	0.991000	0.79684	-0.384000	0.07389	1.252000	0.44001	0.561000	0.74099	GAG		0.622	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		8	30	0	0	0	0	8	30				
BRCA1	672	broad.mit.edu	37	17	41256889	41256889	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:41256889C>T	ENST00000357654.3	-	5	415	c.297G>A	c.(295-297)ttG>ttA	p.L99L	BRCA1_ENST00000346315.3_Silent_p.L99L|BRCA1_ENST00000354071.3_Silent_p.L99L|BRCA1_ENST00000493795.1_Silent_p.L52L|BRCA1_ENST00000491747.2_Silent_p.L99L|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Silent_p.L99L|BRCA1_ENST00000351666.3_Silent_p.L99L|BRCA1_ENST00000471181.2_Silent_p.L99L|BRCA1_ENST00000468300.1_Silent_p.L99L|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000586385.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	99					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ACTTACACTCCAAACCTGTGT	0.373			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.2		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	D|Mis|N|F|S	familial breast/ovarian cancer gene 1			E		breast|ovarian	ovarian		0				ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1)	52						c.(295-297)TTG>TTA	Homologous_recombination	breast cancer 1, early onset isoform 1							99.0	89.0	93.0					17																	41256889		2203	4300	6503	SO:0001819	synonymous_variant	672	Hereditary_Breast-Ovarian_Cancer_BRCA1_type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41256889C>T	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.297G>A	17.37:g.41256889C>T		TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.1_Silent_p.L52L|BRCA1_uc010whl.1_Silent_p.L99L|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.L29L|BRCA1_uc002icu.2_Silent_p.L99L|BRCA1_uc010cyx.2_Silent_p.L52L|BRCA1_uc002ict.2_Silent_p.L99L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_5'UTR|BRCA1_uc002idc.1_Silent_p.L99L|BRCA1_uc010whr.1_Silent_p.L52L|BRCA1_uc002idd.2_Silent_p.L99L|BRCA1_uc002ide.1_5'UTR|BRCA1_uc010cyy.1_Silent_p.L99L|BRCA1_uc010whs.1_Silent_p.L99L|BRCA1_uc010cyz.2_Silent_p.L52L|BRCA1_uc010cza.2_Silent_p.L73L|BRCA1_uc010wht.1_Intron	p.L99L	NM_007294	NP_009225	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	5	529	-		Breast(137;0.000717)	99					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Silent	SNP	ENST00000357654.3	37	c.297G>A	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	C	7.017	0.557938	0.13436	.	.	ENSG00000012048	ENST00000473961	.	.	.	5.3	0.878	0.19150	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1497	0.20304	0.0:0.5365:0.1397:0.3237	.	.	.	.	X	7	.	.	W	-	2	0	BRCA1	38510415	0.176000	0.23096	1.000000	0.80357	0.666000	0.39218	-0.778000	0.04664	0.384000	0.24942	0.563000	0.77884	TGG		0.373	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		24	69	0	0	0	0	24	69				
FAM117A	81558	broad.mit.edu	37	17	47797212	47797212	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:47797212G>A	ENST00000240364.2	-	5	697	c.618C>T	c.(616-618)ctC>ctT	p.L206L	RP11-613C6.2_ENST00000512720.1_RNA|FAM117A_ENST00000513602.1_5'UTR|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	206										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						GGCAGGGGCTGAGTCGCAAGA	0.602																																						uc002ipk.2		NA																	0				ovary(1)	1						c.(616-618)CTC>CTT		family with sequence similarity 117, member A							48.0	53.0	51.0					17																	47797212		2203	4300	6503	SO:0001819	synonymous_variant	81558							g.chr17:47797212G>A	BC037572	CCDS11553.1	17q21.33	2006-04-26				ENSG00000121104			24179	protein-coding gene	gene with protein product	"""C/EBP induced protein"""					12477932	Standard	NM_030802		Approved		uc002ipk.3	Q9C073		ENST00000240364.2:c.618C>T	17.37:g.47797212G>A						FAM117A_uc010wlz.1_5'UTR	p.L206L	NM_030802	NP_110429	Q9C073	F117A_HUMAN			5	687	-			206					B7Z7Q3	Silent	SNP	ENST00000240364.2	37	c.618C>T	CCDS11553.1																																																																																				0.602	FAM117A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365736.1	NM_030802		7	77	0	0	0	0	7	77				
CA10	56934	broad.mit.edu	37	17	49713219	49713219	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:49713219C>T	ENST00000285273.4	-	8	1897	c.786G>A	c.(784-786)atG>atA	p.M262I	CA10_ENST00000570565.1_Missense_Mutation_p.M187I|CA10_ENST00000451037.2_Missense_Mutation_p.M262I|CA10_ENST00000442502.2_Missense_Mutation_p.M262I|CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.M268I	NM_001082533.1	NP_001076002.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	262					brain development (GO:0007420)					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		Zonisamide(DB00909)	AACTCACCTGCATCCTGGTTA	0.393																																						uc002itw.3		NA																	0				ovary(1)|skin(1)	2						c.(784-786)ATG>ATA		carbonic anhydrase X							87.0	75.0	79.0					17																	49713219		2203	4300	6503	SO:0001583	missense	56934				brain development			g.chr17:49713219C>T	AF288385	CCDS32684.1	17q21	2012-08-21			ENSG00000154975	ENSG00000154975		"""Carbonic anhydrases"""	1369	protein-coding gene	gene with protein product		604642				8673298, 9921901	Standard	NM_020178		Approved	CARPX, CA-RPX, HUCEP-15	uc002itx.4	Q9NS85	OTTHUMG00000177544	ENST00000285273.4:c.786G>A	17.37:g.49713219C>T	ENSP00000285273:p.Met262Ile					CA10_uc002itu.3_Missense_Mutation_p.M191I|CA10_uc002itv.3_Missense_Mutation_p.M268I|CA10_uc002itx.3_Missense_Mutation_p.M262I|CA10_uc002ity.3_Missense_Mutation_p.M262I|CA10_uc002itz.2_Missense_Mutation_p.M262I	p.M262I	NM_020178	NP_064563	Q9NS85	CAH10_HUMAN	BRCA - Breast invasive adenocarcinoma(22;4.74e-06)		7	1772	-			262					B2R7J0|B4DGL6	Missense_Mutation	SNP	ENST00000285273.4	37	c.786G>A	CCDS32684.1	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839768	0.71488	.	.	ENSG00000154975	ENST00000442502;ENST00000285273;ENST00000451037;ENST00000340813	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	6.04	6.04	0.98038	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.000000	0.85682	D	0.000000	T	0.56337	0.1978	L	0.31926	0.97	0.80722	D	1	B;B;B	0.11235	0.004;0.004;0.001	B;B;B	0.16722	0.009;0.016;0.012	T	0.47611	-0.9104	10	0.45353	T	0.12	.	19.5674	0.95401	0.0:1.0:0.0:0.0	.	262;268;187	Q9NS85;Q68D28;B4DGL6	CAH10_HUMAN;.;.	I	262;262;262;268	ENSP00000390666:M262I;ENSP00000285273:M262I;ENSP00000405388:M262I;ENSP00000340363:M268I	ENSP00000285273:M262I	M	-	3	0	CA10	47068218	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.666000	0.83877	2.873000	0.98535	0.561000	0.74099	ATG		0.393	CA10-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000437480.1	NM_020178		15	43	0	0	0	0	15	43				
SAP30BP	29115	broad.mit.edu	37	17	73698631	73698631	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:73698631G>A	ENST00000584667.1	+	6	725	c.468G>A	c.(466-468)aaG>aaA	p.K156K	SAP30BP_ENST00000355423.3_Silent_p.K140K|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1			SAP30 binding protein											kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCAAAGGAAGAAAGAATTTC	0.453																																						uc002jpe.2		NA																	0				ovary(1)	1						c.(466-468)AAG>AAA		transcriptional regulator protein							69.0	71.0	70.0					17																	73698631		2203	4300	6503	SO:0001819	synonymous_variant	29115				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr17:73698631G>A	AY082382	CCDS11726.1	17q25.1	2006-01-05				ENSG00000161526			30785	protein-coding gene	gene with protein product		610218				15496587	Standard	NM_013260		Approved	HCNGP, HTRG, HTRP	uc002jpe.3	Q9UHR5		ENST00000584667.1:c.468G>A	17.37:g.73698631G>A						SAP30BP_uc002jpc.1_RNA|SAP30BP_uc010wsf.1_RNA|SAP30BP_uc010wsg.1_RNA|SAP30BP_uc002jpf.2_Silent_p.K140K	p.K156K	NM_013260	NP_037392	Q9UHR5	S30BP_HUMAN	all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		6	522	+	all_cancers(13;6.42e-08)		156						Silent	SNP	ENST00000584667.1	37	c.468G>A	CCDS11726.1																																																																																				0.453	SAP30BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448227.1	NM_013260		15	55	0	0	0	0	15	55				
CDK3	1018	broad.mit.edu	37	17	73998411	73998411	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:73998411T>C	ENST00000425876.2	+	4	486	c.398T>C	c.(397-399)cTg>cCg	p.L133P	CDK3_ENST00000448471.1_Missense_Mutation_p.L133P|TEN1-CDK3_ENST00000567351.1_RNA			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|G0 to G1 transition (GO:0045023)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			central_nervous_system(1)	1						CCCCAGAACCTGCTCATCAAT	0.602																																						uc010dgt.2		NA																	0				central_nervous_system(1)	1						c.(397-399)CTG>CCG		cyclin-dependent kinase 3							65.0	54.0	58.0					17																	73998411		2203	4300	6503	SO:0001583	missense	1018				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity	g.chr17:73998411T>C	X66357	CCDS11736.1	17q25.1	2012-09-20			ENSG00000250506	ENSG00000250506		"""Cyclin-dependent kinases"""	1772	protein-coding gene	gene with protein product		123828				1639063	Standard	NM_001258		Approved		uc010dgt.3	Q00526	OTTHUMG00000154861	ENST00000425876.2:c.398T>C	17.37:g.73998411T>C	ENSP00000410561:p.Leu133Pro					CDK3_uc002jqg.3_Missense_Mutation_p.L161P	p.L133P	NM_001258	NP_001249	Q00526	CDK3_HUMAN			5	474	+			133			Protein kinase.			Missense_Mutation	SNP	ENST00000425876.2	37	c.398T>C	CCDS11736.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.090227	0.76756	.	.	ENSG00000250506	ENST00000448471;ENST00000425876	T;T	0.55760	0.5;0.5	4.65	4.65	0.58169	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43747	D	0.000538	T	0.74207	0.3686	M	0.86268	2.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79369	-0.1832	10	0.87932	D	0	-19.163	13.4269	0.61030	0.0:0.0:0.0:1.0	.	133	Q00526	CDK3_HUMAN	P	133	ENSP00000400088:L133P;ENSP00000410561:L133P	ENSP00000410561:L133P	L	+	2	0	CDK3	71510006	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.665000	0.83852	1.970000	0.57323	0.454000	0.30748	CTG		0.602	CDK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337389.2	NM_001258		9	53	0	0	0	0	9	53				
CCDC57	284001	broad.mit.edu	37	17	80151991	80151991	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr17:80151991C>T	ENST00000389641.4	-	5	679	c.643G>A	c.(643-645)Gag>Aag	p.E215K	CCDC57_ENST00000392343.3_Missense_Mutation_p.E215K|CCDC57_ENST00000392347.1_Missense_Mutation_p.E215K			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	215										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TTCAGAGCCTCCAGCTCTTTG	0.517																																						uc002kdz.1		NA																	0				ovary(2)	2						c.(643-645)GAG>AAG		coiled-coil domain containing 57							66.0	69.0	68.0					17																	80151991		1933	4131	6064	SO:0001583	missense	284001							g.chr17:80151991C>T	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.643G>A	17.37:g.80151991C>T	ENSP00000374292:p.Glu215Lys					CCDC57_uc002kdx.1_Missense_Mutation_p.E215K	p.E215K	NM_198082	NP_932348	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		6	998	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		215			Potential.		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37	c.643G>A		.	.	.	.	.	.	.	.	.	.	c	14.43	2.532881	0.45073	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.25749	2.96;2.96;1.78	4.69	2.52	0.30459	.	1.115670	0.06790	N	0.786779	T	0.19846	0.0477	L	0.27053	0.805	0.19300	N	0.999972	B;B	0.32829	0.103;0.386	B;B	0.34242	0.058;0.178	T	0.30387	-0.9980	10	0.15952	T	0.53	-1.8032	11.0241	0.47734	0.0:0.6347:0.3653:0.0	.	215;215	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	K	215	ENSP00000374292:E215K;ENSP00000376158:E215K;ENSP00000376154:E215K	ENSP00000374292:E215K	E	-	1	0	CCDC57	77745280	0.390000	0.25213	0.001000	0.08648	0.748000	0.42578	2.019000	0.41001	0.410000	0.25675	0.558000	0.71614	GAG		0.517	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		21	114	0	0	0	0	21	114				
RIOK3	8780	broad.mit.edu	37	18	21047484	21047484	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr18:21047484G>T	ENST00000339486.3	+	7	1426	c.809G>T	c.(808-810)gGa>gTa	p.G270V	RIOK3_ENST00000577501.1_Missense_Mutation_p.G270V|RIOK3_ENST00000581585.1_Missense_Mutation_p.G254V	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	270	Protein kinase.				chromosome segregation (GO:0007059)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATGCATATGGAGGGAGGTAA	0.363																																						uc002kui.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(808-810)GGA>GTA		sudD suppressor of bimD6 homolog							99.0	89.0	92.0					18																	21047484		2203	4300	6503	SO:0001583	missense	8780				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr18:21047484G>T	AF013591	CCDS11877.1	18q11.2	2012-12-10	2012-12-10	2003-06-25	ENSG00000101782	ENSG00000101782			11451	protein-coding gene	gene with protein product		603579	"""sudD (suppressor of bimD6, Aspergillus nidulans) homolog"", ""RIO kinase 3 (yeast)"""	SUDD		9602165	Standard	NM_003831		Approved		uc002kui.4	O14730	OTTHUMG00000131813	ENST00000339486.3:c.809G>T	18.37:g.21047484G>T	ENSP00000341874:p.Gly270Val					RIOK3_uc010dls.2_Missense_Mutation_p.G270V|RIOK3_uc010xas.1_Missense_Mutation_p.G254V|RIOK3_uc010xat.1_Nonsense_Mutation_p.E62*	p.G270V	NM_003831	NP_003822	O14730	RIOK3_HUMAN			7	1426	+	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)		270			Protein kinase.		Q8IXN9	Missense_Mutation	SNP	ENST00000339486.3	37	c.809G>T	CCDS11877.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.038231	0.54896	.	.	ENSG00000101782	ENST00000339486	T	0.07327	3.2	5.65	5.65	0.86999	RIO kinase (1);Protein kinase-like domain (1);RIO-like kinase (1);	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	M	0.87269	2.87	0.80722	D	1	D;D;D	0.89917	0.998;0.999;1.0	D;D;D	0.79784	0.985;0.989;0.993	T	0.24870	-1.0148	10	0.66056	D	0.02	-7.0642	19.7207	0.96142	0.0:0.0:1.0:0.0	.	254;270;270	B4E1Q4;O14730-2;O14730	.;.;RIOK3_HUMAN	V	270	ENSP00000341874:G270V	ENSP00000341874:G270V	G	+	2	0	RIOK3	19301482	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.741000	0.98843	2.647000	0.89833	0.650000	0.86243	GGA		0.363	RIOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254756.1	NM_003831		17	64	1	0	7.05e-17	7.71e-17	17	64				
ABHD17A	81926	broad.mit.edu	37	19	1877366	1877366	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:1877366C>T	ENST00000292577.7	-	5	1199	c.766G>A	c.(766-768)Gag>Aag	p.E256K	ABHD17A_ENST00000590661.1_Silent_p.T224T|CTB-31O20.2_ENST00000565797.1_lincRNA|ABHD17A_ENST00000250974.9_Missense_Mutation_p.E307K|CTB-31O20.9_ENST00000592720.1_lincRNA	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	256						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										TCGATCACCTCGTCCTCCGTG	0.677																																						uc002lug.2		NA																	0					0						c.(766-768)GAG>AAG		hypothetical protein LOC81926 isoform 2							11.0	4.0	7.0					19																	1877366		1283	2253	3536	SO:0001583	missense	81926					extracellular region	hydrolase activity	g.chr19:1877366C>T	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.766G>A	19.37:g.1877366C>T	ENSP00000292577:p.Glu256Lys					FAM108A1_uc002lud.2_Silent_p.T224T|FAM108A1_uc002lue.2_3'UTR|FAM108A1_uc002luf.2_Missense_Mutation_p.E307K	p.E256K	NM_001130111	NP_001123583	Q96GS6	F18A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1172	-		Ovarian(11;0.000137)	256					A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Missense_Mutation	SNP	ENST00000292577.7	37	c.766G>A	CCDS45902.1	.	.	.	.	.	.	.	.	.	.	c	36	5.617697	0.96649	.	.	ENSG00000129968	ENST00000250974;ENST00000292577	T;T	0.22336	1.96;1.96	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	T	0.48857	0.1523	M	0.78223	2.4	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.76071	0.982;0.987	T	0.55218	-0.8175	10	0.87932	D	0	-31.8875	16.9964	0.86369	0.0:1.0:0.0:0.0	.	256;307	Q96GS6;Q96GS6-2	F18A1_HUMAN;.	K	307;256	ENSP00000250974:E307K;ENSP00000292577:E256K	ENSP00000250974:E307K	E	-	1	0	FAM108A1	1828366	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.606000	0.82863	2.310000	0.77875	0.561000	0.74099	GAG		0.677	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		3	17	0	0	0	0	3	17				
TJP3	27134	broad.mit.edu	37	19	3747947	3747947	+	Missense_Mutation	SNP	G	G	T	rs551071457	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:3747947G>T	ENST00000541714.2	+	19	2940	c.2478G>T	c.(2476-2478)gaG>gaT	p.E826D	TJP3_ENST00000587686.1_Missense_Mutation_p.E845D|TJP3_ENST00000262968.9_Missense_Mutation_p.E859D|TJP3_ENST00000382008.3_Missense_Mutation_p.E840D|TJP3_ENST00000539908.2_Missense_Mutation_p.E790D|TJP3_ENST00000589378.1_Missense_Mutation_p.E835D	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	826					regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)		p.Y863fs*64(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGACGGCGAGGGGGGGCCCT	0.697																																						uc010xhv.1		NA																	1	Deletion - Frameshift(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2575-2577)GAG>GAT		tight junction protein 3							25.0	25.0	25.0					19																	3747947		2198	4297	6495	SO:0001583	missense	27134					tight junction	protein binding	g.chr19:3747947G>T	AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.2478G>T	19.37:g.3747947G>T	ENSP00000439278:p.Glu826Asp					TJP3_uc010xhs.1_Missense_Mutation_p.E826D|TJP3_uc010xht.1_Missense_Mutation_p.E790D|TJP3_uc010xhu.1_Missense_Mutation_p.E835D|TJP3_uc010xhw.1_Missense_Mutation_p.E845D	p.E859D	NM_014428	NP_055243	O95049	ZO3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)	18	2577	+			840					A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Missense_Mutation	SNP	ENST00000541714.2	37	c.2577G>T	CCDS32873.2	.	.	.	.	.	.	.	.	.	.	G	8.096	0.775613	0.16051	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	T;T;T;T	0.08370	3.1;3.27;3.1;3.19	2.52	0.199	0.15175	.	1.529690	0.05311	U	0.524767	T	0.11750	0.0286	N	0.14661	0.345	0.22745	N	0.998789	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.996;0.999;0.991;0.996	T	0.32824	-0.9892	10	0.28530	T	0.3	.	3.3263	0.07068	0.1675:0.2797:0.5528:0.0	.	845;859;840;826	O95049-3;O95049-2;O95049;F5H2X0	.;.;ZO3_HUMAN;.	D	826;790;840;859	ENSP00000439278:E826D;ENSP00000439991:E790D;ENSP00000371438:E840D;ENSP00000262968:E859D	ENSP00000262968:E859D	E	+	3	2	TJP3	3698947	0.992000	0.36948	0.868000	0.34077	0.201000	0.24016	2.447000	0.44917	0.117000	0.18138	0.561000	0.74099	GAG		0.697	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000453434.1			10	16	1	0	1.59e-06	1.68e-06	10	16				
COL5A3	50509	broad.mit.edu	37	19	10090691	10090691	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:10090691G>A	ENST00000264828.3	-	36	2722	c.2637C>T	c.(2635-2637)ttC>ttT	p.F879F		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	879	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTGGCCCAGGGAATCCTGGAG	0.612																																						uc002mmq.1		NA																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(2635-2637)TTC>TTT		collagen, type V, alpha 3 preproprotein							46.0	42.0	43.0					19																	10090691		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10090691G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2637C>T	19.37:g.10090691G>A							p.F879F	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		36	2723	-			879			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.2637C>T	CCDS12222.1																																																																																				0.612	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		5	19	0	0	0	0	5	19				
COL5A3	50509	broad.mit.edu	37	19	10090711	10090711	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:10090711G>A	ENST00000264828.3	-	36	2702	c.2617C>T	c.(2617-2619)Ctg>Ttg	p.L873L		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	873	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGCCTTGCAGACCAGGGAGG	0.602																																						uc002mmq.1		NA																	0				ovary(7)|lung(1)|central_nervous_system(1)|skin(1)	10						c.(2617-2619)CTG>TTG		collagen, type V, alpha 3 preproprotein							45.0	40.0	42.0					19																	10090711		2203	4300	6503	SO:0001819	synonymous_variant	50509				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent	g.chr19:10090711G>A	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2617C>T	19.37:g.10090711G>A							p.L873L	NM_015719	NP_056534	P25940	CO5A3_HUMAN	Epithelial(33;7.11e-05)		36	2703	-			873			Triple-helical region.		Q9NZQ6	Silent	SNP	ENST00000264828.3	37	c.2617C>T	CCDS12222.1																																																																																				0.602	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		6	16	0	0	0	0	6	16				
SMARCA4	6597	broad.mit.edu	37	19	11145805	11145805	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:11145805C>G	ENST00000429416.3	+	30	4448	c.4167C>G	c.(4165-4167)ctC>ctG	p.L1389L	SMARCA4_ENST00000413806.3_Silent_p.L1356L|SMARCA4_ENST00000450717.3_Silent_p.L1356L|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000344626.4_Silent_p.L1389L|SMARCA4_ENST00000589677.1_Silent_p.L1356L|SMARCA4_ENST00000590574.1_Silent_p.L1356L|SMARCA4_ENST00000541122.2_Silent_p.L1356L|SMARCA4_ENST00000444061.3_Silent_p.L1356L|SMARCA4_ENST00000358026.2_Silent_p.L1389L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1389					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCAGTGGCTCAAGGTACATG	0.657			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)		lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(4165-4167)CTC>CTG		SWI/SNF-related matrix-associated							32.0	27.0	29.0					19																	11145805		2197	4300	6497	SO:0001819	synonymous_variant	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11145805C>G	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4167C>G	19.37:g.11145805C>G						SMARCA4_uc010dxp.2_Silent_p.L1389L|SMARCA4_uc010dxo.2_Silent_p.L1389L|SMARCA4_uc010dxq.2_Silent_p.L1356L|SMARCA4_uc010dxr.2_Silent_p.L1356L|SMARCA4_uc002mqj.3_Silent_p.L1356L|SMARCA4_uc010dxs.2_Silent_p.L1356L|SMARCA4_uc010dxt.1_Silent_p.L576L|SMARCA4_uc002mqh.3_Silent_p.L479L|SMARCA4_uc002mqi.1_Silent_p.L559L	p.L1389L	NM_003072	NP_003063	P51532	SMCA4_HUMAN			29	4451	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1389					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	ENST00000429416.3	37	c.4167C>G	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	c	9.529	1.110254	0.20714	.	.	ENSG00000127616	ENST00000538456	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	T	0.63780	0.2540	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62144	-0.6916	4	.	.	.	-32.9046	12.2545	0.54617	0.0:0.8282:0.1718:0.0	.	.	.	.	E	126	.	.	Q	+	1	0	SMARCA4	11006805	0.748000	0.28294	1.000000	0.80357	0.972000	0.66771	-0.074000	0.11450	2.385000	0.81259	0.558000	0.71614	CAA		0.657	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		26	25	0	0	0	0	26	25				
SMARCA4	6597	broad.mit.edu	37	19	11152041	11152041	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:11152041C>T	ENST00000429416.3	+	31	4510	c.4229C>T	c.(4228-4230)tCa>tTa	p.S1410L	SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1380L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1380L|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1410L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1380L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1377L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1380L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1377L|SMARCA4_ENST00000358026.2_Missense_Mutation_p.S1442L	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1410					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AAGAAATCATCACGGAAGCGC	0.607			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NA		Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)		lung(1)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(4228-4230)TCA>TTA		SWI/SNF-related matrix-associated							51.0	59.0	56.0					19																	11152041		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11152041C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4229C>T	19.37:g.11152041C>T	ENSP00000395654:p.Ser1410Leu					SMARCA4_uc010dxp.2_Missense_Mutation_p.S1410L|SMARCA4_uc010dxo.2_Missense_Mutation_p.S1442L|SMARCA4_uc010dxq.2_Missense_Mutation_p.S1377L|SMARCA4_uc010dxr.2_Missense_Mutation_p.S1377L|SMARCA4_uc002mqj.3_Missense_Mutation_p.S1380L|SMARCA4_uc010dxs.2_Missense_Mutation_p.S1380L|SMARCA4_uc002mqh.3_Missense_Mutation_p.S500L	p.S1410L	NM_003072	NP_003063	P51532	SMCA4_HUMAN			30	4513	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1410					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.4229C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	17.70	3.454558	0.63290	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D	0.87412	-2.21;-2.25;-2.21;-2.2;-2.21;-2.21	4.38	4.38	0.52667	.	0.067752	0.56097	D	0.000024	T	0.71576	0.3356	N	0.08118	0	0.45172	D	0.998187	B;B;B;P;B;B	0.38922	0.021;0.021;0.021;0.651;0.021;0.08	B;B;B;B;B;B	0.24974	0.028;0.028;0.028;0.057;0.028;0.045	T	0.76708	-0.2860	10	0.44086	T	0.13	-11.9061	15.8513	0.78934	0.0:1.0:0.0:0.0	.	1380;1377;1377;1442;1380;1410	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;P51532	.;.;.;.;.;SMCA4_HUMAN	L	1410;1442;1444;1410;1377;1377;1380;1380	ENSP00000395654:S1410L;ENSP00000350720:S1442L;ENSP00000343896:S1410L;ENSP00000392837:S1377L;ENSP00000397783:S1380L;ENSP00000414727:S1380L	ENSP00000343896:S1410L	S	+	2	0	SMARCA4	11013041	1.000000	0.71417	0.535000	0.28026	0.877000	0.50540	6.873000	0.75541	2.272000	0.75746	0.467000	0.42956	TCA		0.607	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		105	61	0	0	0	0	105	61				
ZNF439	90594	broad.mit.edu	37	19	11978656	11978656	+	Nonsense_Mutation	SNP	C	C	T	rs535252484		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:11978656C>T	ENST00000304030.2	+	3	972	c.772C>T	c.(772-774)Cga>Tga	p.R258*	ZNF439_ENST00000455282.1_Nonsense_Mutation_p.R122*|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						TGCTACCCATCGAATACATGA	0.383													c|||	1	0.000199681	0.0	0.0	5008	,	,		22141	0.0		0.0	False		,,,				2504	0.001					uc002mss.2		NA																	0				skin(1)	1						c.(772-774)CGA>TGA		zinc finger protein 439							72.0	72.0	72.0					19																	11978656		2203	4300	6503	SO:0001587	stop_gained	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978656C>T	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.772C>T	19.37:g.11978656C>T	ENSP00000305077:p.Arg258*					ZNF439_uc002msr.2_Nonsense_Mutation_p.R122*	p.R258*	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN			3	900	+			258			C2H2-type 3.		Q8IYZ7|Q96SU1	Nonsense_Mutation	SNP	ENST00000304030.2	37	c.772C>T	CCDS12268.1	.	.	.	.	.	.	.	.	.	.	c	15.73	2.920574	0.52653	.	.	ENSG00000171291	ENST00000455282;ENST00000304030	.	.	.	0.641	0.641	0.17759	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.6241	0.02719	0.3432:0.4026:0.0:0.2542	.	.	.	.	X	122;258	.	ENSP00000305077:R258X	R	+	1	2	ZNF439	11839656	0.000000	0.05858	0.007000	0.13788	0.046000	0.14306	-0.746000	0.04829	0.623000	0.30267	0.306000	0.20318	CGA		0.383	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1			64	67	0	0	0	0	64	67				
ZNF791	163049	broad.mit.edu	37	19	12739575	12739575	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:12739575C>T	ENST00000343325.4	+	4	1394	c.1232C>T	c.(1231-1233)cCc>cTc	p.P411L	AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Missense_Mutation_p.P302L|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.P379L	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	411					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GGAGAAAAACCCTATGAGTGT	0.393																																						uc002mua.2		NA																	0				ovary(2)	2						c.(1231-1233)CCC>CTC		zinc finger protein 791							98.0	106.0	103.0					19																	12739575		2203	4300	6503	SO:0001583	missense	163049				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12739575C>T	AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.1232C>T	19.37:g.12739575C>T	ENSP00000342974:p.Pro411Leu					ZNF791_uc010xml.1_Missense_Mutation_p.P379L|ZNF791_uc010dyu.1_Missense_Mutation_p.P302L|ZNF791_uc010xmm.1_Missense_Mutation_p.P302L	p.P411L	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN			4	1394	+			411					B7Z586|Q8NC99	Missense_Mutation	SNP	ENST00000343325.4	37	c.1232C>T	CCDS12273.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782696	0.49891	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.27557	1.66;1.66;1.66	1.83	1.83	0.25207	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50411	0.1614	M	0.74647	2.275	0.45490	D	0.998452	D	0.89917	1.0	D	0.77004	0.989	T	0.52510	-0.8566	9	0.66056	D	0.02	.	9.2247	0.37398	0.0:1.0:0.0:0.0	.	411	Q3KP31	ZN791_HUMAN	L	411;393;379;302	ENSP00000342974:P411L;ENSP00000441761:P379L;ENSP00000441038:P302L	ENSP00000342974:P411L	P	+	2	0	ZNF791	12600575	0.968000	0.33430	0.995000	0.50966	0.989000	0.77384	3.054000	0.49908	1.007000	0.39238	0.491000	0.48974	CCC		0.393	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344140.1	NM_153358		38	162	0	0	0	0	38	162				
CYP4F3	4051	broad.mit.edu	37	19	15769192	15769192	+	Silent	SNP	C	C	A	rs142036643	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:15769192C>A	ENST00000221307.8	+	10	1281	c.1234C>A	c.(1234-1236)Cgg>Agg	p.R412R	CYP4F3_ENST00000585846.1_Silent_p.R412R|CYP4F3_ENST00000591058.1_Silent_p.R412R|CYP4F3_ENST00000586182.2_Silent_p.R412R	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	412					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCCAGACGGCCGGGTCATCCC	0.642																																						uc002nbj.2		NA																	0				ovary(3)	3						c.(1234-1236)CGG>AGG		cytochrome P450, family 4, subfamily F,		C	,,	8,4398		0,8,2195	58.0	62.0	60.0		1234,1234,1234	2.2	1.0	19	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CYP4F3	NM_000896.2,NM_001199208.1,NM_001199209.1	,,	0,8,6495	AA,AC,CC		0.0,0.1816,0.0615	,,	412/521,412/521,412/521	15769192	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769192C>A	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1234C>A	19.37:g.15769192C>A						CYP4F3_uc010xok.1_Silent_p.R412R|CYP4F3_uc010xol.1_Silent_p.R412R|CYP4F3_uc010xom.1_Silent_p.R263R|CYP4F3_uc002nbk.2_Silent_p.R412R|CYP4F3_uc010xon.1_Silent_p.R122R	p.R412R	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			10	1284	+			412					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.1234C>A	CCDS12332.1																																																																																				0.642	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		14	85	1	0	0.00185496	0.00190778	14	85				
TMEM59L	25789	broad.mit.edu	37	19	18729056	18729056	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:18729056C>T	ENST00000600490.1	+	7	941	c.756C>T	c.(754-756)gaC>gaT	p.D252D	TMEM59L_ENST00000262817.3_Silent_p.D252D			Q9UK28	TM59L_HUMAN	transmembrane protein 59-like	252						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AGCCACAGGACAATGACTTCC	0.627																																						uc002njy.3		NA																	0				ovary(2)|skin(2)	4						c.(754-756)GAC>GAT		brain-specific membrane-anchored protein							72.0	52.0	59.0					19																	18729056		2203	4300	6503	SO:0001819	synonymous_variant	25789					Golgi membrane|integral to membrane|membrane fraction		g.chr19:18729056C>T	AF186264	CCDS12383.1	19p12	2008-02-05	2007-03-14	2007-03-14		ENSG00000105696			13237	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 4"""	C19orf4		10527841	Standard	NM_012109		Approved	BSMAP	uc002njy.4	Q9UK28		ENST00000600490.1:c.756C>T	19.37:g.18729056C>T							p.D252D	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN			6	843	+			252						Silent	SNP	ENST00000600490.1	37	c.756C>T	CCDS12383.1																																																																																				0.627	TMEM59L-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465143.2			6	42	0	0	0	0	6	42				
ZNF208	7757	broad.mit.edu	37	19	22156015	22156015	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:22156015T>C	ENST00000397126.4	-	4	1969	c.1821A>G	c.(1819-1821)aaA>aaG	p.K607K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	607					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.K507N(2)|p.K607N(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTGTAGGGTTTCTCACCAG	0.368																																						uc002nqp.2		NA																	3	Substitution - Missense(3)		large_intestine(3)	ovary(5)|skin(2)	7						c.(1519-1521)AAA>AAG		zinc finger protein 208							56.0	59.0	58.0					19																	22156015		2094	4239	6333	SO:0001819	synonymous_variant	7757							g.chr19:22156015T>C	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1821A>G	19.37:g.22156015T>C						ZNF208_uc002nqo.1_Intron	p.K507K	NM_007153	NP_009084					5	1670	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Silent	SNP	ENST00000397126.4	37	c.1521A>G	CCDS54240.1																																																																																				0.368	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		8	74	0	0	0	0	8	74				
YIF1B	90522	broad.mit.edu	37	19	38800243	38800243	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:38800243G>A	ENST00000339413.6	-	2	144	c.99C>T	c.(97-99)gcC>gcT	p.A33A	YIF1B_ENST00000592246.1_Silent_p.A2A|YIF1B_ENST00000592694.1_Silent_p.A2A|YIF1B_ENST00000591784.1_Silent_p.A2A|YIF1B_ENST00000329420.8_Silent_p.A18A|YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000591755.1_Silent_p.A30A|YIF1B_ENST00000337679.8_Silent_p.A30A|YIF1B_ENST00000392124.3_Silent_p.A2A	NM_001039672.2|NM_001039673.2	NP_001034761.1|NP_001034762.1	Q5BJH7	YIF1B_HUMAN	Yip1 interacting factor homolog B (S. cerevisiae)	33						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)	10	all_cancers(60;1.07e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGTGGGGGTCGGCCATGCCCG	0.642																																						uc002ohz.2		NA																	0					0						c.(97-99)GCC>GCT		Yip1 interacting factor homolog B isoform 5							22.0	25.0	24.0					19																	38800243		2199	4294	6493	SO:0001819	synonymous_variant	90522					integral to membrane		g.chr19:38800243G>A	AL833382	CCDS12512.1, CCDS33010.1, CCDS46066.1, CCDS46067.1	19q13.2	2008-02-05							30511	protein-coding gene	gene with protein product						12975309	Standard	NM_001039672		Approved	FinGER8	uc002ohz.2	Q5BJH7		ENST00000339413.6:c.99C>T	19.37:g.38800243G>A						YIF1B_uc002ohw.2_Silent_p.A2A|YIF1B_uc002ohx.2_Silent_p.A18A|YIF1B_uc010xtx.1_Silent_p.A16A|YIF1B_uc010xty.1_Silent_p.A2A|YIF1B_uc002oia.2_Silent_p.A30A|YIF1B_uc002ohy.2_Silent_p.A30A|YIF1B_uc002oib.2_Silent_p.A30A	p.A33A	NM_001039672	NP_001034761	Q5BJH7	YIF1B_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		2	148	-	all_cancers(60;1.07e-06)		33			Cytoplasmic (Potential).		H7BXS8|Q5JPC2|Q8WY70|Q96C02|Q96IC4	Silent	SNP	ENST00000339413.6	37	c.99C>T	CCDS33010.1																																																																																				0.642	YIF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460511.1	NM_033557		4	11	0	0	0	0	4	11				
CYP2A7	1549	broad.mit.edu	37	19	41387649	41387649	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:41387649T>A	ENST00000301146.4	-	2	729	c.188A>T	c.(187-189)gAg>gTg	p.E63V	CYP2A7_ENST00000291764.3_Intron|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	63						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCCATAGCACTCACTGAACTG	0.622																																						uc002opm.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(187-189)GAG>GTG		cytochrome P450, family 2, subfamily A,							30.0	27.0	28.0					19																	41387649		2185	4240	6425	SO:0001583	missense	1549					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41387649T>A	NM_000764	CCDS12569.1, CCDS42570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000198077	ENSG00000198077		"""Cytochrome P450s"""	2611	protein-coding gene	gene with protein product		608054	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 7"""			7668294, 15128046	Standard	NM_030589		Approved	CYP2A	uc002opm.3	P20853	OTTHUMG00000182715	ENST00000301146.4:c.188A>T	19.37:g.41387649T>A	ENSP00000301146:p.Glu63Val					CYP2A7_uc002opo.2_Missense_Mutation_p.E63V|CYP2A7_uc002opn.2_Intron	p.E63V	NM_000764	NP_000755	P20853	CP2A7_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	730	-			63					Q13121	Missense_Mutation	SNP	ENST00000301146.4	37	c.188A>T	CCDS12569.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.814723	0.50527	.	.	ENSG00000198077	ENST00000301146	T	0.70282	-0.47	2.18	2.18	0.27775	.	0.538080	0.18932	U	0.127185	T	0.73916	0.3648	M	0.76838	2.35	0.80722	D	1	B;B	0.32939	0.391;0.089	B;B	0.42361	0.385;0.199	T	0.75761	-0.3204	10	0.87932	D	0	.	9.0853	0.36577	0.0:0.0:0.0:1.0	.	63;63	B7ZKR0;P20853	.;CP2A7_HUMAN	V	63	ENSP00000301146:E63V	ENSP00000301146:E63V	E	-	2	0	CYP2A7	46079489	0.121000	0.22262	0.017000	0.16124	0.030000	0.12068	3.102000	0.50291	1.001000	0.39076	0.155000	0.16302	GAG		0.622	CYP2A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463269.2	NM_030589		3	15	0	0	0	0	3	15				
CIC	23152	broad.mit.edu	37	19	42799110	42799110	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:42799110G>T	ENST00000575354.2	+	20	4634	c.4594G>T	c.(4594-4596)Gag>Tag	p.E1532*	CIC_ENST00000160740.3_Nonsense_Mutation_p.E1530*|CIC_ENST00000572681.2_Nonsense_Mutation_p.E2438*	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1532	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCTGGAGCTGAGGCTCCTCT	0.667			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1		NA		Rec	yes		19	19q13.2	23152	T	capicua homolog			O	DUX4		soft tissue sarcoma		0				ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1)	11						c.(4594-4596)GAG>TAG		capicua homolog							25.0	27.0	26.0					19																	42799110		2203	4298	6501	SO:0001587	stop_gained	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42799110G>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.4594G>T	19.37:g.42799110G>T	ENSP00000458663:p.Glu1532*						p.E1532*	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			20	4634	+		Prostate(69;0.00682)	1532			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Nonsense_Mutation	SNP	ENST00000575354.2	37	c.4594G>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943650	0.53079	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.54753	D	0.999988	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.6135	15.0527	0.71888	0.0:0.0:1.0:0.0	.	.	.	.	X	1532	.	ENSP00000160740:E1532X	E	+	1	0	CIC	47490950	0.992000	0.36948	0.645000	0.29479	0.896000	0.52359	2.162000	0.42367	2.513000	0.84729	0.491000	0.48974	GAG		0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			7	37	1	0	0.00448238	0.00460231	7	37				
SIGLEC9	27180	broad.mit.edu	37	19	51630370	51630370	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:51630370G>T	ENST00000250360.3	+	4	899	c.832G>T	c.(832-834)Gac>Tac	p.D278Y	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.D278Y	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	278	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TGATGCAGTTGACAGCAATCC	0.592																																						uc002pvu.2		NA																	0				skin(1)	1						c.(832-834)GAC>TAC		sialic acid binding Ig-like lectin 9 precursor							106.0	101.0	103.0					19																	51630370		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51630370G>T	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.832G>T	19.37:g.51630370G>T	ENSP00000250360:p.Asp278Tyr					SIGLEC9_uc010yct.1_Missense_Mutation_p.D278Y	p.D278Y	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	4	899	+		all_neural(266;0.0529)	278			Extracellular (Potential).|Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.832G>T	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	11.04	1.522687	0.27211	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.15834	2.39;2.58	2.3	-2.25	0.06888	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.181217	0.26304	N	0.025142	T	0.35711	0.0941	M	0.84433	2.695	0.09310	N	1	D	0.89917	1.0	D	0.79108	0.992	T	0.10314	-1.0635	10	0.87932	D	0	.	5.5363	0.17013	0.6385:0.0:0.3615:0.0	.	278	Q9Y336	SIGL9_HUMAN	Y	278	ENSP00000413861:D278Y;ENSP00000250360:D278Y	ENSP00000250360:D278Y	D	+	1	0	SIGLEC9	56322182	0.000000	0.05858	0.014000	0.15608	0.005000	0.04900	-0.661000	0.05311	-0.284000	0.09102	-0.481000	0.04817	GAC		0.592	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		16	124	1	0	9.17e-09	9.81e-09	16	124				
LENG1	79165	broad.mit.edu	37	19	54662148	54662148	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr19:54662148C>T	ENST00000222224.3	-	2	370	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_024316.1	NP_077292.1	Q96BZ8	LENG1_HUMAN	leukocyte receptor cluster (LRC) member 1	62										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GCTTCAAGCTCAGGCAGTGAG	0.527																																						uc002qdm.2		NA																	0				ovary(1)	1						c.(184-186)GAG>AAG		leukocyte receptor cluster (LRC) member 1							85.0	87.0	87.0					19																	54662148		2203	4300	6503	SO:0001583	missense	79165							g.chr19:54662148C>T	AF211966	CCDS12881.1	19q13.4	2008-02-05			ENSG00000105617	ENSG00000105617			15502	protein-coding gene	gene with protein product						10941842	Standard	NM_024316		Approved		uc002qdm.3	Q96BZ8	OTTHUMG00000066486	ENST00000222224.3:c.184G>A	19.37:g.54662148C>T	ENSP00000222224:p.Glu62Lys						p.E62K	NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN			2	197	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		62					Q9HCU7	Missense_Mutation	SNP	ENST00000222224.3	37	c.184G>A	CCDS12881.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452334	0.43531	.	.	ENSG00000105617	ENST00000222224	T	0.44881	0.91	4.78	4.78	0.61160	.	1.516930	0.03759	N	0.257763	T	0.47097	0.1427	M	0.69248	2.105	0.18873	N	0.999983	B	0.30281	0.275	B	0.31337	0.128	T	0.53187	-0.8474	10	0.07482	T	0.82	-9.9869	16.1182	0.81324	0.0:1.0:0.0:0.0	.	62	Q96BZ8	LENG1_HUMAN	K	62	ENSP00000222224:E62K	ENSP00000222224:E62K	E	-	1	0	LENG1	59353960	0.153000	0.22777	0.008000	0.14137	0.978000	0.69477	3.099000	0.50267	2.582000	0.87167	0.655000	0.94253	GAG		0.527	LENG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142159.1	NM_024316		19	118	0	0	0	0	19	118				
AGBL5	60509	broad.mit.edu	37	2	27278818	27278818	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:27278818G>A	ENST00000360131.4	+	7	1336	c.1177G>A	c.(1177-1179)Gag>Aag	p.E393K	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Missense_Mutation_p.E393K	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	393					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAAACAAACAGAGCCAGCAGA	0.522																																						uc002rie.2		NA																	0				ovary(1)|breast(1)	2						c.(1177-1179)GAG>AAG		ATP/GTP binding protein-like 5 isoform 1							145.0	146.0	146.0					2																	27278818		2203	4300	6503	SO:0001583	missense	60509				protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr2:27278818G>A	BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1177G>A	2.37:g.27278818G>A	ENSP00000353249:p.Glu393Lys					AGBL5_uc002ric.2_Missense_Mutation_p.E393K|AGBL5_uc002rid.2_Missense_Mutation_p.E393K|AGBL5_uc002rif.2_RNA	p.E393K	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN			7	1394	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		393					A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	ENST00000360131.4	37	c.1177G>A	CCDS1732.3	.	.	.	.	.	.	.	.	.	.	G	9.369	1.069886	0.20147	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.39406	1.08;1.08	5.88	5.01	0.66863	.	0.374689	0.33382	N	0.004967	T	0.36468	0.0968	L	0.55481	1.735	0.27097	N	0.962715	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.11329	0.006;0.002;0.004	T	0.28933	-1.0028	10	0.09084	T	0.74	-14.2076	13.9076	0.63845	0.0738:0.0:0.9262:0.0	.	393;393;393	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	K	393	ENSP00000323681:E393K;ENSP00000353249:E393K	ENSP00000323681:E393K	E	+	1	0	AGBL5	27132322	0.906000	0.30813	0.080000	0.20451	0.336000	0.28762	3.865000	0.56033	1.497000	0.48584	0.491000	0.48974	GAG		0.522	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831		27	118	0	0	0	0	27	118				
PPM1G	5496	broad.mit.edu	37	2	27609064	27609064	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:27609064C>T	ENST00000344034.4	-	3	537	c.273G>A	c.(271-273)caG>caA	p.Q91Q	PPM1G_ENST00000350803.4_Silent_p.Q91Q	NM_177983.2	NP_817092.1	O15355	PPM1G_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1G	91					cell cycle arrest (GO:0007050)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GACAGACCTTCTGTAGCTTGC	0.473																																						uc002rkl.2		NA																	0				ovary(1)	1						c.(271-273)CAG>CAA		protein phosphatase 1G							342.0	307.0	319.0					2																	27609064		2203	4300	6503	SO:0001819	synonymous_variant	5496				cell cycle arrest|protein dephosphorylation	cytoplasm|nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	g.chr2:27609064C>T	Y13936	CCDS1752.1	2p23.3	2012-04-17	2010-03-05		ENSG00000115241	ENSG00000115241	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9278	protein-coding gene	gene with protein product	"""PP2C, gamma"", ""protein phosphatase 2C, gamma isoform"""	605119	"""protein phosphatase 1G (formerly 2C), magnesium-dependent, gamma isoform"""			9276438	Standard	NM_177983		Approved	PP2CG, PP2Cgamma	uc002rkl.4	O15355	OTTHUMG00000097788	ENST00000344034.4:c.273G>A	2.37:g.27609064C>T						PPM1G_uc002rkm.2_5'UTR	p.Q91Q	NM_002707	NP_002698	O15355	PPM1G_HUMAN			4	380	-	Acute lymphoblastic leukemia(172;0.155)		91						Silent	SNP	ENST00000344034.4	37	c.273G>A	CCDS1752.1																																																																																				0.473	PPM1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215032.1	NM_002707		65	232	0	0	0	0	65	232				
IFT172	26160	broad.mit.edu	37	2	27680753	27680753	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:27680753C>T	ENST00000260570.3	-	28	3169	c.3066G>A	c.(3064-3066)aaG>aaA	p.K1022K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1022					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTGGATGGTGCTTCCCTACCA	0.522																																						uc002rku.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(3064-3066)AAG>AAA		selective LIM binding factor homolog							214.0	182.0	192.0					2																	27680753		2203	4300	6503	SO:0001819	synonymous_variant	26160				cilium assembly	cilium	binding	g.chr2:27680753C>T	AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3066G>A	2.37:g.27680753C>T							p.K1022K	NM_015662	NP_056477	Q9UG01	IF172_HUMAN			28	3117	-	Acute lymphoblastic leukemia(172;0.155)		1022					A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	ENST00000260570.3	37	c.3066G>A	CCDS1755.1																																																																																				0.522	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250213.2	NM_015662		22	58	0	0	0	0	22	58				
PSME4	23198	broad.mit.edu	37	2	54112830	54112830	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:54112830G>A	ENST00000404125.1	-	41	4867	c.4812C>T	c.(4810-4812)ttC>ttT	p.F1604F	PSME4_ENST00000421748.2_Silent_p.F748F|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1604					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)			ACCTTACCTTGAAAAACAAAG	0.363																																						uc002rxp.2		NA																	0				ovary(2)|breast(2)|pancreas(1)	5						c.(4810-4812)TTC>TTT		proteasome (prosome, macropain) activator							104.0	95.0	98.0					2																	54112830		2203	4300	6503	SO:0001819	synonymous_variant	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.chr2:54112830G>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.4812C>T	2.37:g.54112830G>A						PSME4_uc010yop.1_Silent_p.F1490F|PSME4_uc010yoq.1_RNA|PSME4_uc010fbu.1_Silent_p.F979F|PSME4_uc010fbv.1_Silent_p.F748F|PSME4_uc010fbt.1_Silent_p.F91F	p.F1604F	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		41	4868	-			1604					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.4812C>T	CCDS33197.2																																																																																				0.363	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158		9	34	0	0	0	0	9	34				
ACTR2	10097	broad.mit.edu	37	2	65492283	65492283	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:65492283T>C	ENST00000260641.5	+	8	1145	c.988T>C	c.(988-990)Ttg>Ctg	p.L330L	ACTR2_ENST00000377982.4_Silent_p.L335L|ACTR2_ENST00000542850.1_Silent_p.L275L	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	330					Arp2/3 complex-mediated actin nucleation (GO:0034314)|asymmetric cell division (GO:0008356)|cellular component movement (GO:0006928)|cilium assembly (GO:0042384)|cytoplasmic transport (GO:0016482)|establishment or maintenance of cell polarity (GO:0007163)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|meiotic chromosome movement towards spindle pole (GO:0016344)|meiotic cytokinesis (GO:0033206)|spindle localization (GO:0051653)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|Arp2/3 protein complex (GO:0005885)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ATP binding (GO:0005524)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						AGAACGAGTTTTGAAGGGTGA	0.368																																						uc002sdq.2		NA																	0					0						c.(988-990)TTG>CTG		actin-related protein 2 isoform b							135.0	133.0	134.0					2																	65492283		2203	4300	6503	SO:0001819	synonymous_variant	10097				cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding	g.chr2:65492283T>C	AF006082	CCDS1881.1, CCDS46307.1	2p14	2008-05-20	2001-11-28		ENSG00000138071	ENSG00000138071			169	protein-coding gene	gene with protein product		604221	"""ARP2 (actin-related protein 2, yeast) homolog"""			9230079	Standard	NM_001005386		Approved	ARP2	uc002sdp.3	P61160	OTTHUMG00000129540	ENST00000260641.5:c.988T>C	2.37:g.65492283T>C						ACTR2_uc010yqf.1_Silent_p.L275L|ACTR2_uc002sdp.2_Silent_p.L335L|ACTR2_uc010yqg.1_Silent_p.L278L	p.L330L	NM_005722	NP_005713	P61160	ARP2_HUMAN			8	1203	+			330					B2RCP5|D6W5F4|E9PF41|O15142|Q96C82	Silent	SNP	ENST00000260641.5	37	c.988T>C	CCDS1881.1																																																																																				0.368	ACTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251730.1	NM_001005386		43	122	0	0	0	0	43	122				
ARHGAP25	9938	broad.mit.edu	37	2	69002483	69002483	+	Silent	SNP	G	G	A	rs369463181		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:69002483G>A	ENST00000295381.3	+	2	611	c.192G>A	c.(190-192)caG>caA	p.Q64Q	ARHGAP25_ENST00000544262.1_Silent_p.Q38Q|ARHGAP25_ENST00000409030.3_Silent_p.Q57Q|ARHGAP25_ENST00000497079.1_Silent_p.Q57Q|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Silent_p.Q64Q|ARHGAP25_ENST00000409220.1_Silent_p.Q57Q|ARHGAP25_ENST00000409202.3_Silent_p.Q64Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	64	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGAACTGGCAGCAGAGGTACT	0.567																																						uc002seu.2		NA																	0				ovary(2)|breast(2)	4						c.(190-192)CAG>CAA		Rho GTPase activating protein 25 isoform a		G	,,,	1,4405	2.1+/-5.4	0,1,2202	141.0	149.0	146.0		192,171,192,171	4.7	1.0	2		146	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	ARHGAP25	NM_001007231.2,NM_001166276.1,NM_001166277.1,NM_014882.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	64/647,57/640,64/607,57/639	69002483	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69002483G>A	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.192G>A	2.37:g.69002483G>A						ARHGAP25_uc010yqk.1_Silent_p.Q38Q|ARHGAP25_uc010fdg.2_Silent_p.Q64Q|ARHGAP25_uc010yql.1_Silent_p.Q64Q|ARHGAP25_uc002sev.2_Silent_p.Q57Q|ARHGAP25_uc002sew.2_Silent_p.Q57Q|ARHGAP25_uc002sex.2_Silent_p.Q57Q|ARHGAP25_uc010fdh.1_RNA	p.Q64Q	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			2	556	+			64			PH.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Silent	SNP	ENST00000295381.3	37	c.192G>A																																																																																					0.567	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		4	226	0	0	0	0	4	226				
ATP6V1B1	525	broad.mit.edu	37	2	71186202	71186202	+	Missense_Mutation	SNP	C	C	T	rs372842500		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:71186202C>T	ENST00000234396.4	+	5	495	c.422C>T	c.(421-423)gCg>gTg	p.A141V	ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.A141V|AC007040.11_ENST00000606025.1_Intron	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	141					ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GTGGTCATGGCGGAGGACTTT	0.582																																						uc002shj.2		NA																	0				skin(1)	1						c.(421-423)GCG>GTG		ATPase, H+ transporting, lysosomal 56/58kDa, V1		C	VAL/ALA	0,4406		0,0,2203	117.0	102.0	107.0		422	4.3	1.0	2		107	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP6V1B1	NM_001692.3	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	141/514	71186202	1,13005	2203	4300	6503	SO:0001583	missense	525				ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr2:71186202C>T	AF107466	CCDS1912.1	2p13	2010-04-21	2008-07-31	2002-05-10	ENSG00000116039	ENSG00000116039	3.6.3.14	"""ATPases / V-type"""	853	protein-coding gene	gene with protein product	"""Renal tubular acidosis with deafness"""	192132	"""vacuolar proton pump 3"""	VPP3, ATP6B1		9916796, 2527371	Standard	XM_005264368		Approved	VATB, RTA1B, Vma2	uc002shj.3	P15313	OTTHUMG00000129711	ENST00000234396.4:c.422C>T	2.37:g.71186202C>T	ENSP00000234396:p.Ala141Val					ATP6V1B1_uc002shi.1_Missense_Mutation_p.A141V|ATP6V1B1_uc010fdv.2_Missense_Mutation_p.A141V|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Missense_Mutation_p.A99V	p.A141V	NM_001692	NP_001683	P15313	VATB1_HUMAN			5	509	+			141					Q53FY0|Q6P4H6	Missense_Mutation	SNP	ENST00000234396.4	37	c.422C>T	CCDS1912.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.380880	0.82792	0.0	1.16E-4	ENSG00000116039	ENST00000234396;ENST00000483246;ENST00000412314;ENST00000454446;ENST00000432098	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	4.32	4.32	0.51571	.	0.000000	0.64402	D	0.000012	D	0.89030	0.6599	M	0.88775	2.98	0.80722	D	1	D;D;P	0.69078	0.989;0.997;0.909	P;P;P	0.58620	0.768;0.842;0.768	D	0.91174	0.4971	10	0.66056	D	0.02	-19.2014	14.3548	0.66730	0.0:1.0:0.0:0.0	.	116;141;141	B4DWH7;C9JL73;P15313	.;.;VATB1_HUMAN	V	141;116;141;158;21	ENSP00000234396:A141V;ENSP00000388353:A141V;ENSP00000408361:A158V;ENSP00000387599:A21V	ENSP00000234396:A141V	A	+	2	0	ATP6V1B1	71039710	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.420000	0.80191	2.237000	0.73441	0.650000	0.86243	GCG		0.582	ATP6V1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251920.2	NM_001692		5	55	0	0	0	0	5	55				
MRPL53	116540	broad.mit.edu	37	2	74699368	74699368	+	Missense_Mutation	SNP	G	G	A	rs202083153		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:74699368G>A	ENST00000258105.7	-	3	878	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	MRPL53_ENST00000409710.1_Missense_Mutation_p.S35L	NM_053050.4	NP_444278.1	Q96EL3	RM53_HUMAN	mitochondrial ribosomal protein L53	73						mitochondrion (GO:0005739)|ribosome (GO:0005840)				central_nervous_system(1)|large_intestine(2)|lung(1)|urinary_tract(1)	5						ATAATCAGGCGATGCCCGTCT	0.682																																						uc002sln.2		NA																	0					0						c.(217-219)CGC>TGC		mitochondrial ribosomal protein L53 precursor							30.0	31.0	31.0					2																	74699368		2203	4299	6502	SO:0001583	missense	116540					mitochondrion|ribosome		g.chr2:74699368G>A	BC012163	CCDS1944.1	2p13.1	2012-09-13			ENSG00000204822	ENSG00000204822		"""Mitochondrial ribosomal proteins / large subunits"""	16684	protein-coding gene	gene with protein product		611857				11551941	Standard	NM_053050		Approved		uc002sln.3	Q96EL3	OTTHUMG00000129961	ENST00000258105.7:c.217C>T	2.37:g.74699368G>A	ENSP00000258105:p.Arg73Cys					CCDC142_uc002slo.2_RNA	p.R73C	NM_053050	NP_444278	Q96EL3	RM53_HUMAN			3	357	-			73						Missense_Mutation	SNP	ENST00000258105.7	37	c.217C>T	CCDS1944.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.824230|4.824230	0.90955|0.90955	.|.	.|.	ENSG00000204822|ENSG00000204822	ENST00000258105|ENST00000409710	T|T	0.50001|0.49720	0.76|0.77	4.92|4.92	4.92|4.92	0.64577|0.64577	.|.	0.055231|.	0.64402|.	D|.	0.000001|.	T|T	0.57359|0.57359	0.2048|0.2048	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.73708|.	0.981|.	T|T	0.60105|0.60105	-0.7328|-0.7328	10|7	0.87932|0.87932	D|D	0|0	-36.2575|-36.2575	13.4829|13.4829	0.61348|0.61348	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	73|.	Q96EL3|.	RM53_HUMAN|.	C|L	73|35	ENSP00000258105:R73C|ENSP00000386920:S35L	ENSP00000258105:R73C|ENSP00000386920:S35L	R|S	-|-	1|2	0|0	MRPL53|MRPL53	74552876|74552876	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.913000|0.913000	0.54294|0.54294	4.076000|4.076000	0.57591|0.57591	2.558000|2.558000	0.86282|0.86282	0.596000|0.596000	0.82720|0.82720	CGC|TCG		0.682	MRPL53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252225.2	NM_053050		11	36	0	0	0	0	11	36				
CNOT11	55571	broad.mit.edu	37	2	101881353	101881353	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:101881353T>C	ENST00000289382.3	+	4	1042	c.879T>C	c.(877-879)atT>atC	p.I293I		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	293					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											CACTCCACATTTGTGAGGATG	0.488																																						uc002taw.3		NA																	0				ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						c.(877-879)ATT>ATC		hypothetical protein LOC55571							159.0	140.0	146.0					2																	101881353		2203	4300	6503	SO:0001819	synonymous_variant	55571				cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol		g.chr2:101881353T>C	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.879T>C	2.37:g.101881353T>C							p.I293I	NM_017546	NP_060016	Q9UKZ1	CB029_HUMAN			4	961	+			293					Q6P2M9|Q8N681	Silent	SNP	ENST00000289382.3	37	c.879T>C	CCDS2050.1																																																																																				0.488	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		15	74	0	0	0	0	15	74				
MYO7B	4648	broad.mit.edu	37	2	128384562	128384562	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:128384562C>G	ENST00000409816.2	+	30	4182	c.4150C>G	c.(4150-4152)Cag>Gag	p.Q1384E	MYO7B_ENST00000428314.1_Missense_Mutation_p.Q1384E|RP11-286H15.1_ENST00000609697.1_RNA|MYO7B_ENST00000409090.1_Missense_Mutation_p.Q237E|MYO7B_ENST00000389524.4_Missense_Mutation_p.Q1384E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1384	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCCATACACTCAGAAGCAAGT	0.597																																						uc002top.2		NA																	0				ovary(1)|pancreas(1)	2						c.(4150-4152)CAG>GAG		myosin VIIB							27.0	30.0	29.0					2																	128384562		2009	4175	6184	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128384562C>G		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4150C>G	2.37:g.128384562C>G	ENSP00000386461:p.Gln1384Glu					MYO7B_uc002toq.1_Missense_Mutation_p.Q237E|MYO7B_uc002tor.1_Missense_Mutation_p.Q237E	p.Q1384E	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	31	4203	+	Colorectal(110;0.1)		1384			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4150C>G	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	c	11.08	1.534641	0.27475	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000272666;ENST00000409816;ENST00000409090	D;D;D;D	0.91521	-2.86;-2.86;-2.86;-2.86	4.71	2.86	0.33363	Band 4.1 domain (1);FERM domain (1);	0.282821	0.37304	N	0.002148	D	0.86552	0.5960	M	0.64170	1.965	0.09310	N	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.71896	-0.4454	10	0.22109	T	0.4	.	9.5321	0.39200	0.2867:0.5747:0.1385:0.0	.	1384	Q6PIF6	MYO7B_HUMAN	E	1384;1384;237;1384;237	ENSP00000374175:Q1384E;ENSP00000415090:Q1384E;ENSP00000386461:Q1384E;ENSP00000386850:Q237E	ENSP00000272666:Q237E	Q	+	1	0	MYO7B	128101032	0.939000	0.31865	0.899000	0.35326	0.014000	0.08584	1.859000	0.39418	0.595000	0.29777	-0.258000	0.10820	CAG		0.597	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		6	15	0	0	0	0	6	15				
TANC1	85461	broad.mit.edu	37	2	160019983	160019983	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:160019983C>G	ENST00000263635.6	+	8	1109	c.872C>G	c.(871-873)tCa>tGa	p.S291*	TANC1_ENST00000454300.1_Nonsense_Mutation_p.S185*	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	291					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCAGAATCCTCAGCTGGAGAT	0.572																																						uc002uag.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(871-873)TCA>TGA		tetratricopeptide repeat, ankyrin repeat and							60.0	68.0	65.0					2																	160019983		2020	4179	6199	SO:0001587	stop_gained	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160019983C>G	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.872C>G	2.37:g.160019983C>G	ENSP00000263635:p.Ser291*					TANC1_uc010fol.1_Nonsense_Mutation_p.S185*|TANC1_uc010zcm.1_Nonsense_Mutation_p.S290*|TANC1_uc010fom.1_Intron	p.S291*	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN			8	1146	+			291					C9JD88|Q49AI8	Nonsense_Mutation	SNP	ENST00000263635.6	37	c.872C>G	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	C	39	7.680209	0.98428	.	.	ENSG00000115183	ENST00000454300;ENST00000263635	.	.	.	5.93	5.93	0.95920	.	0.396544	0.27782	N	0.017880	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	20.3363	0.98740	0.0:1.0:0.0:0.0	.	.	.	.	X	185;291	.	ENSP00000263635:S291X	S	+	2	0	TANC1	159728229	0.002000	0.14202	1.000000	0.80357	0.921000	0.55340	1.664000	0.37439	2.814000	0.96858	0.563000	0.77884	TCA		0.572	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			19	51	0	0	0	0	19	51				
PPIG	9360	broad.mit.edu	37	2	170493609	170493609	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170493609G>A	ENST00000260970.3	+	14	2061	c.1841G>A	c.(1840-1842)gGa>gAa	p.G614E	PPIG_ENST00000448752.2_Missense_Mutation_p.G614E|PPIG_ENST00000409714.3_Missense_Mutation_p.G599E	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	614	Arg/Ser-rich (RS domain).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ACACCACCAGGAAGATCAAGA	0.463																																						uc002uez.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1840-1842)GGA>GAA		peptidylprolyl isomerase G	L-Proline(DB00172)						86.0	85.0	86.0					2																	170493609		2202	4300	6502	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493609G>A	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1841G>A	2.37:g.170493609G>A	ENSP00000260970:p.Gly614Glu					PPIG_uc010fpx.2_Missense_Mutation_p.G599E|PPIG_uc010fpy.2_Missense_Mutation_p.G607E|PPIG_uc002ufb.2_Missense_Mutation_p.G614E|PPIG_uc002ufd.2_Missense_Mutation_p.G611E	p.G614E	NM_004792	NP_004783	Q13427	PPIG_HUMAN			14	2061	+			614			Arg/Ser-rich (RS domain).		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.1841G>A	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938817	0.34189	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.13538	2.58;2.58;2.58	5.6	4.62	0.57501	.	0.217850	0.42294	D	0.000729	T	0.04272	0.0118	N	0.02539	-0.55	0.34349	D	0.689678	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.34750	-0.9816	10	0.10902	T	0.67	-20.6271	6.3465	0.21353	0.2954:0.0:0.7046:0.0	.	599;599;614	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	E	614;599;614	ENSP00000260970:G614E;ENSP00000386245:G599E;ENSP00000407083:G614E	ENSP00000260970:G614E	G	+	2	0	PPIG	170201855	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.933000	0.63484	2.629000	0.89072	0.591000	0.81541	GGA		0.463	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			6	30	0	0	0	0	6	30				
PPIG	9360	broad.mit.edu	37	2	170493718	170493718	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170493718G>C	ENST00000260970.3	+	14	2170	c.1950G>C	c.(1948-1950)aaG>aaC	p.K650N	PPIG_ENST00000448752.2_Missense_Mutation_p.K650N|PPIG_ENST00000409714.3_Missense_Mutation_p.K635N	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	650					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAGAGAGTAAGAGCTCACACA	0.388																																						uc002uez.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1948-1950)AAG>AAC		peptidylprolyl isomerase G	L-Proline(DB00172)						69.0	72.0	71.0					2																	170493718		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493718G>C	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1950G>C	2.37:g.170493718G>C	ENSP00000260970:p.Lys650Asn					PPIG_uc010fpx.2_Missense_Mutation_p.K635N|PPIG_uc010fpy.2_Missense_Mutation_p.K643N|PPIG_uc002ufb.2_Missense_Mutation_p.K650N|PPIG_uc002ufd.2_Missense_Mutation_p.K647N	p.K650N	NM_004792	NP_004783	Q13427	PPIG_HUMAN			14	2170	+			650					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.1950G>C	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	G	9.730	1.162062	0.21538	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.17054	2.3;2.3;2.3	5.51	4.61	0.57282	.	0.288558	0.31963	N	0.006783	T	0.10680	0.0261	N	0.24115	0.695	0.36683	D	0.879142	B;B;B	0.30482	0.281;0.281;0.281	B;B;B	0.27796	0.083;0.083;0.083	T	0.14559	-1.0468	10	0.87932	D	0	-6.7652	6.1983	0.20561	0.3405:0.0:0.6595:0.0	.	635;635;650	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	N	650;635;650	ENSP00000260970:K650N;ENSP00000386245:K635N;ENSP00000407083:K650N	ENSP00000260970:K650N	K	+	3	2	PPIG	170201964	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	1.205000	0.32308	1.270000	0.44297	0.591000	0.81541	AAG		0.388	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			10	63	0	0	0	0	10	63				
KLHL23	151230	broad.mit.edu	37	2	170592202	170592202	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170592202C>G	ENST00000392647.2	+	2	922	c.678C>G	c.(676-678)atC>atG	p.I226M	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Missense_Mutation_p.I226M	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	226	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TGAGCTATATCAACATTGATA	0.388																																						uc002ufh.1		NA																	0					0						c.(676-678)ATC>ATG		kelch-like 23							50.0	53.0	52.0					2																	170592202		2203	4300	6503	SO:0001583	missense	151230							g.chr2:170592202C>G	BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.678C>G	2.37:g.170592202C>G	ENSP00000376419:p.Ile226Met					KLHL23_uc002ufi.1_Missense_Mutation_p.I226M	p.I226M	NM_144711	NP_653312	Q8NBE8	KLH23_HUMAN			4	1016	+			226			BACK.		Q8N9B9|Q96FT8	Missense_Mutation	SNP	ENST00000392647.2	37	c.678C>G	CCDS2236.1	.	.	.	.	.	.	.	.	.	.	C	14.28	2.488313	0.44249	.	.	ENSG00000213160	ENST00000272797;ENST00000392647;ENST00000437875	T;T;T	0.74842	-0.88;-0.88;-0.88	5.81	1.67	0.24075	BTB/Kelch-associated (2);	0.323016	0.35555	N	0.003129	T	0.75642	0.3877	M	0.81682	2.555	0.26395	N	0.976516	B	0.33940	0.433	P	0.45232	0.474	T	0.77122	-0.2704	9	0.87932	D	0	.	2.2092	0.03944	0.2849:0.4297:0.1248:0.1606	.	226	Q8NBE8	KLH23_HUMAN	M	226;226;47	ENSP00000272797:I226M;ENSP00000376419:I226M;ENSP00000394732:I47M	ENSP00000272797:I226M	I	+	3	3	KLHL23	170300448	0.974000	0.33945	0.998000	0.56505	0.994000	0.84299	0.174000	0.16743	0.795000	0.33922	0.655000	0.94253	ATC		0.388	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255271.2	NM_144711		9	38	0	0	0	0	9	38				
UBR3	130507	broad.mit.edu	37	2	170897435	170897435	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:170897435C>T	ENST00000272793.5	+	32	4650	c.4600C>T	c.(4600-4602)Cat>Tat	p.H1534Y	UBR3_ENST00000392631.1_Missense_Mutation_p.H355Y|UBR3_ENST00000418381.1_Missense_Mutation_p.H1534Y			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1534					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						AATTCTTTATCATGATGTAAC	0.328																																						uc010zdi.1		NA																	0					0						c.(4600-4602)CAT>TAT		E3 ubiquitin-protein ligase UBR3							119.0	112.0	114.0					2																	170897435		2203	4300	6503	SO:0001583	missense	130507				sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr2:170897435C>T	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.4600C>T	2.37:g.170897435C>T	ENSP00000272793:p.His1534Tyr					UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.H355Y|UBR3_uc002uft.3_Missense_Mutation_p.H391Y|UBR3_uc010zdj.1_Missense_Mutation_p.H225Y|UBR3_uc002ufu.3_Missense_Mutation_p.H40Y	p.H1534Y	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN			32	4600	+			1534					B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	37	c.4600C>T		.	.	.	.	.	.	.	.	.	.	C	15.38	2.815448	0.50527	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631;ENST00000439681	T;T;T;T	0.48522	0.95;0.95;0.95;0.81	5.27	4.33	0.51752	.	0.117466	0.64402	D	0.000015	T	0.24314	0.0589	N	0.08118	0	0.26231	N	0.979011	B;P;P	0.44090	0.018;0.524;0.826	B;B;B	0.37780	0.007;0.131;0.258	T	0.11108	-1.0601	10	0.12430	T	0.62	.	13.9055	0.63834	0.153:0.8469:0.0:0.0	.	1534;355;1563	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	Y	1534;1563;1534;355;234	ENSP00000272793:H1534Y;ENSP00000396068:H1534Y;ENSP00000376408:H355Y;ENSP00000389097:H234Y	ENSP00000272793:H1534Y	H	+	1	0	UBR3	170605681	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.150000	0.42254	2.607000	0.88179	0.585000	0.79938	CAT		0.328	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070		22	46	0	0	0	0	22	46				
TTN	7273	broad.mit.edu	37	2	179412921	179412921	+	Silent	SNP	C	C	T	rs377261293		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:179412921C>T	ENST00000591111.1	-	289	88733	c.88509G>A	c.(88507-88509)cgG>cgA	p.R29503R	TTN_ENST00000342175.6_Silent_p.R22271R|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342992.6_Silent_p.R28576R|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.R22204R|TTN_ENST00000460472.2_Silent_p.R22079R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.R31144R|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29503	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCAGTGATCCGGCTGCCTC	0.493																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(85726-85728)CGG>CGA		titin isoform N2-A							154.0	156.0	155.0					2																	179412921		1983	4170	6153	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412921C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88509G>A	2.37:g.179412921C>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.R22271R|TTN_uc010zfi.1_Silent_p.R22204R|TTN_uc010zfj.1_Silent_p.R22079R	p.R28576R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85952	-			29503					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.85728G>A																																																																																					0.493	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		75	201	0	0	0	0	75	201				
ITGA4	3676	broad.mit.edu	37	2	182322416	182322416	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:182322416G>A	ENST00000397033.2	+	1	465	c.35G>A	c.(34-36)cGa>cAa	p.R12Q	ITGA4_ENST00000339307.4_Missense_Mutation_p.R12Q	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	12					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CCCGGCCCCCGAAGGGCCGCC	0.662																																						uc002unu.2		NA																	0				ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1)	6						c.(34-36)CGA>CAA		integrin alpha 4 precursor	Natalizumab(DB00108)						13.0	17.0	16.0					2																	182322416		1886	4096	5982	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182322416G>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.35G>A	2.37:g.182322416G>A	ENSP00000380227:p.Arg12Gln					ITGA4_uc002unt.2_Missense_Mutation_p.R12Q|ITGA4_uc010zfl.1_Missense_Mutation_p.R12Q	p.R12Q	NM_000885	NP_000876	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		1	798	+			12					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.35G>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	G	10.07	1.250533	0.22880	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	D;D;D	0.91894	-2.93;-2.93;-2.93	4.5	1.59	0.23543	.	.	.	.	.	D	0.82296	0.5006	L	0.29908	0.895	0.09310	N	1	B;B;B	0.24882	0.003;0.013;0.113	B;B;B	0.16289	0.0;0.002;0.015	T	0.67711	-0.5600	9	0.27082	T	0.32	.	1.1581	0.01800	0.2029:0.1751:0.4412:0.1808	.	12;12;12	E7EP60;P13612;E7ESG7	.;ITA4_HUMAN;.	Q	12	ENSP00000340149:R12Q;ENSP00000380227:R12Q;ENSP00000233573:R12Q	ENSP00000233573:R12Q	R	+	2	0	ITGA4	182030661	0.384000	0.25164	0.477000	0.27303	0.009000	0.06853	0.506000	0.22658	1.113000	0.41760	0.561000	0.74099	CGA		0.662	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			7	17	0	0	0	0	7	17				
GLS	2744	broad.mit.edu	37	2	191745874	191745874	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:191745874A>C	ENST00000320717.3	+	1	322	c.64A>C	c.(64-66)Agc>Cgc	p.S22R	GLS_ENST00000338435.4_Missense_Mutation_p.S22R|AC005540.3_ENST00000413911.1_RNA	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	22					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	CGCCGGCGTGAGCGCGACTCT	0.786																																						uc002usf.2		NA																	0				ovary(1)|skin(1)	2						c.(64-66)AGC>CGC		glutaminase precursor	L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)						3.0	3.0	3.0					2																	191745874		1293	2909	4202	SO:0001583	missense	2744				cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	g.chr2:191745874A>C	AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.64A>C	2.37:g.191745874A>C	ENSP00000317379:p.Ser22Arg					GLS_uc002usd.2_Missense_Mutation_p.S22R|GLS_uc002use.2_Missense_Mutation_p.S22R	p.S22R	NM_014905	NP_055720	O94925	GLSK_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		1	328	+			22					Q9UL05|Q9UL06|Q9UL07|Q9UN40	Missense_Mutation	SNP	ENST00000320717.3	37	c.64A>C	CCDS2308.1	.	.	.	.	.	.	.	.	.	.	A	9.071	0.996911	0.19043	.	.	ENSG00000115419	ENST00000320717;ENST00000338435	T;T	0.47869	0.94;0.83	4.08	-8.15	0.01065	.	0.902664	0.09271	N	0.825100	T	0.18676	0.0448	N	0.08118	0	0.23336	N	0.997883	B;B;B	0.32620	0.007;0.036;0.378	B;B;B	0.29353	0.024;0.054;0.101	T	0.21895	-1.0232	10	0.46703	T	0.11	0.8903	4.7155	0.12893	0.2417:0.0:0.4139:0.3445	.	22;22;22	O94925;O94925-3;O94925-2	GLSK_HUMAN;.;.	R	22	ENSP00000317379:S22R;ENSP00000340689:S22R	ENSP00000317379:S22R	S	+	1	0	GLS	191454119	0.001000	0.12720	0.000000	0.03702	0.045000	0.14185	-0.279000	0.08479	-2.511000	0.00503	-0.723000	0.03601	AGC		0.786	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255999.2			3	9	0	0	0	0	3	9				
STAT1	6772	broad.mit.edu	37	2	191845388	191845388	+	Silent	SNP	G	G	A	rs552751565		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:191845388G>A	ENST00000361099.3	-	19	1977	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	STAT1_ENST00000409465.1_Silent_p.N530N|STAT1_ENST00000392322.3_Silent_p.N530N|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392323.2_Silent_p.N532N	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	530					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			CGGGGCTGGCGTTAGGACCTA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		19478	0.001		0.0	False		,,,				2504	0.0					uc002usj.2		NA																	0				lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	10						c.(1588-1590)AAC>AAT		signal transducer and activator of transcription	Fludarabine(DB01073)						115.0	109.0	111.0					2																	191845388		2203	4300	6503	SO:0001819	synonymous_variant	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191845388G>A		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.1590C>T	2.37:g.191845388G>A						STAT1_uc010fse.1_Silent_p.N530N|STAT1_uc002usk.2_Silent_p.N530N|STAT1_uc002usl.2_Silent_p.N532N|STAT1_uc010fsf.1_Silent_p.N342N	p.N530N	NM_007315	NP_009330	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		19	1978	-			530					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Silent	SNP	ENST00000361099.3	37	c.1590C>T	CCDS2309.1																																																																																				0.433	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		15	43	0	0	0	0	15	43				
DNAH7	56171	broad.mit.edu	37	2	196801362	196801362	+	Missense_Mutation	SNP	T	T	C	rs201273652		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:196801362T>C	ENST00000312428.6	-	20	3333	c.3233A>G	c.(3232-3234)gAa>gGa	p.E1078G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1078	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTCAAGAAGTTCATCATTGGA	0.299																																						uc002utj.3		NA																	0				skin(10)|ovary(2)	12						c.(3232-3234)GAA>GGA		dynein, axonemal, heavy chain 7							70.0	69.0	69.0					2																	196801362		1805	4058	5863	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196801362T>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3233A>G	2.37:g.196801362T>C	ENSP00000311273:p.Glu1078Gly						p.E1078G	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			20	3334	-			1078			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.3233A>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.854283	0.91355	.	.	ENSG00000118997	ENST00000312428	T	0.66099	-0.19	5.71	5.71	0.89125	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.87047	0.6080	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91792	0.5444	10	0.87932	D	0	.	15.944	0.79779	0.0:0.0:0.0:1.0	.	1078	Q8WXX0	DYH7_HUMAN	G	1078	ENSP00000311273:E1078G	ENSP00000311273:E1078G	E	-	2	0	DNAH7	196509607	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.944000	0.87722	2.306000	0.77630	0.443000	0.29094	GAA		0.299	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		20	92	0	0	0	0	20	92				
NIF3L1	60491	broad.mit.edu	37	2	201757020	201757020	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:201757020G>A	ENST00000409020.1	+	2	648	c.354G>A	c.(352-354)gaG>gaA	p.E118E	NIF3L1_ENST00000409357.1_Silent_p.E118E|NIF3L1_ENST00000416651.1_Silent_p.E118E|NIF3L1_ENST00000359683.4_Silent_p.E91E|NIF3L1_ENST00000409588.1_Silent_p.E118E|PPIL3_ENST00000409449.1_5'Flank			Q9GZT8	GTPC1_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	118					7,8-dihydroneopterin 3'-triphosphate biosynthetic process (GO:0035998)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTP cyclohydrolase I activity (GO:0003934)|metal ion binding (GO:0046872)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GGGCTCTGGAGAACAGAGTCG	0.547																																						uc002uwm.2		NA																	0				skin(1)	1						c.(352-354)GAG>GAA		NIF3 NGG1 interacting factor 3-like 1 isoform 1							95.0	93.0	93.0					2																	201757020		1878	4106	5984	SO:0001819	synonymous_variant	60491				positive regulation of transcription, DNA-dependent		transcription factor binding	g.chr2:201757020G>A	AB038949	CCDS42797.1, CCDS46485.1, CCDS46486.1	2q33	2011-11-10	2011-11-10		ENSG00000196290	ENSG00000196290			13390	protein-coding gene	gene with protein product		605778	"""NIF3 (Ngg1 interacting factor 3, S.pombe homolog)-like 1"", ""NIF3 NGG1 interacting factor 3-like 1 (S. pombe)"""	ALS2CR1		11124544, 11161814, 12522100	Standard	NM_001136039		Approved	CALS-7, MDS015	uc002uwm.2	Q9GZT8	OTTHUMG00000154588	ENST00000409020.1:c.354G>A	2.37:g.201757020G>A						NIF3L1_uc002uwl.2_Silent_p.E91E|NIF3L1_uc002uwn.2_Silent_p.E91E|NIF3L1_uc002uwo.2_Silent_p.E118E|NIF3L1_uc002uwp.2_Silent_p.E118E|NIF3L1_uc002uwq.2_Silent_p.E118E	p.E118E	NM_001136039	NP_001129511	Q9GZT8	NIF3L_HUMAN			2	445	+			118					Q53TX4|Q6X735|Q9H2D2|Q9HC18	Silent	SNP	ENST00000409020.1	37	c.354G>A	CCDS46485.1																																																																																				0.547	NIF3L1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336201.1	NM_021824		22	88	0	0	0	0	22	88				
LANCL1	10314	broad.mit.edu	37	2	211319997	211319997	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:211319997C>T	ENST00000443314.1	-	3	583	c.241G>A	c.(241-243)Gac>Aac	p.D81N	LANCL1_ENST00000431941.2_Missense_Mutation_p.D81N|AC007970.1_ENST00000420418.1_RNA|LANCL1_ENST00000233714.4_Missense_Mutation_p.D81N|LANCL1_ENST00000441020.3_Missense_Mutation_p.D81N|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000450366.2_Missense_Mutation_p.D81N			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	81					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TAGGCAGGGTCCCCAAATACA	0.403																																						uc010zjh.1		NA																	0					0						c.(241-243)GAC>AAC		lanthionine synthetase C-like protein 1							76.0	73.0	74.0					2																	211319997		2203	4300	6503	SO:0001583	missense	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211319997C>T	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.241G>A	2.37:g.211319997C>T	ENSP00000388713:p.Asp81Asn					LANCL1_uc002ved.2_Missense_Mutation_p.D81N|LANCL1_uc010fuq.2_Missense_Mutation_p.D81N	p.D81N	NM_001136574	NP_001130046	O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	4	316	-			81						Missense_Mutation	SNP	ENST00000443314.1	37	c.241G>A	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166987	0.78339	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	5.65	5.65	0.86999	Six-hairpin glycosidase-like (1);	0.083259	0.85682	D	0.000000	T	0.54822	0.1882	L	0.41124	1.26	0.80722	D	1	P	0.50943	0.94	P	0.53954	0.738	T	0.38520	-0.9657	10	0.30078	T	0.28	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	81	O43813	LANC1_HUMAN	N	81	ENSP00000388713:D81N;ENSP00000393323:D81N;ENSP00000393597:D81N;ENSP00000233714:D81N;ENSP00000397646:D81N;ENSP00000396518:D81N	ENSP00000233714:D81N	D	-	1	0	LANCL1	211028242	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.982000	0.76173	2.941000	0.99782	0.655000	0.94253	GAC		0.403	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		18	47	0	0	0	0	18	47				
PTPRN	5798	broad.mit.edu	37	2	220167381	220167381	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:220167381C>G	ENST00000295718.2	-	5	796	c.556G>C	c.(556-558)Gag>Cag	p.E186Q	PTPRN_ENST00000409251.3_Missense_Mutation_p.E186Q|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.E96Q	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	186					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		AGCAGGTGCTCCAAGAGAGGC	0.627																																						uc002vkz.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(556-558)GAG>CAG		protein tyrosine phosphatase, receptor type, N							39.0	46.0	44.0					2																	220167381		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220167381C>G		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.556G>C	2.37:g.220167381C>G	ENSP00000295718:p.Glu186Gln					PTPRN_uc010zlc.1_Missense_Mutation_p.E96Q|PTPRN_uc002vla.2_Missense_Mutation_p.E186Q	p.E186Q	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	5	645	-		Renal(207;0.0474)	186			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.556G>C	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.016905	0.35606	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666;ENST00000412847;ENST00000446182;ENST00000440552	T;T;T	0.04758	3.56;3.72;3.57	4.84	4.84	0.62591	.	0.000000	0.48767	D	0.000162	T	0.13713	0.0332	L	0.44542	1.39	0.33786	D	0.624813	D;B	0.63880	0.993;0.307	D;B	0.70227	0.968;0.031	T	0.13737	-1.0498	10	0.23302	T	0.38	.	15.9137	0.79491	0.0:1.0:0.0:0.0	.	186;186	Q6NSL1;Q16849	.;PTPRN_HUMAN	Q	186;186;186;96;96;96;153	ENSP00000386638:E186Q;ENSP00000295718:E186Q;ENSP00000444244:E96Q	ENSP00000295718:E186Q	E	-	1	0	PTPRN	219875625	1.000000	0.71417	1.000000	0.80357	0.621000	0.37620	4.716000	0.61916	2.517000	0.84864	0.561000	0.74099	GAG		0.627	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2			11	41	0	0	0	0	11	41				
MCM8	84515	broad.mit.edu	37	20	5932702	5932702	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:5932702G>A	ENST00000378896.3	+	2	418	c.41G>A	c.(40-42)aGa>aAa	p.R14K	MCM8_ENST00000378886.2_Missense_Mutation_p.R14K|MCM8_ENST00000265187.4_Missense_Mutation_p.R14K|TRMT6_ENST00000473131.1_5'Flank|TRMT6_ENST00000453074.2_5'Flank|MCM8_ENST00000378883.1_Missense_Mutation_p.R14K|TRMT6_ENST00000203001.2_5'Flank	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	14					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)|G1/S transition of mitotic cell cycle (GO:0000082)|male gamete generation (GO:0048232)|mitotic cell cycle (GO:0000278)	MCM8-MCM9 complex (GO:0097362)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						GGACGAGGAAGATTTCAAAGC	0.413																																						uc002wmi.2		NA																	0				skin(1)	1						c.(40-42)AGA>AAA		minichromosome maintenance complex component 8							99.0	96.0	97.0					20																	5932702		2203	4300	6503	SO:0001583	missense	84515				cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity	g.chr20:5932702G>A	AJ439063	CCDS13094.1, CCDS13095.1, CCDS63226.1, CCDS63227.1	20p12.3	2007-04-04	2007-04-04	2003-07-09	ENSG00000125885	ENSG00000125885			16147	protein-coding gene	gene with protein product	"""REC homolog (Drosophila)"""	608187	"""chromosome 20 open reading frame 154"""	C20orf154		12527764	Standard	NM_032485		Approved	MGC4816, MGC12866, MGC119522, MGC119523, dJ967N21.5, REC	uc002wmi.3	Q9UJA3	OTTHUMG00000031822	ENST00000378896.3:c.41G>A	20.37:g.5932702G>A	ENSP00000368174:p.Arg14Lys					TRMT6_uc002wmh.1_5'Flank|TRMT6_uc010zra.1_5'Flank|TRMT6_uc010gbn.1_5'Flank|TRMT6_uc010gbo.1_5'Flank|MCM8_uc002wmj.2_Missense_Mutation_p.R14K|MCM8_uc002wmk.2_Missense_Mutation_p.R14K|MCM8_uc002wml.2_Missense_Mutation_p.R14K|MCM8_uc010gbp.2_Missense_Mutation_p.R14K	p.R14K	NM_032485	NP_115874	Q9UJA3	MCM8_HUMAN			2	418	+			14					B2RBG7|D3DW08|E7EQU7|Q495R4|Q495R6|Q495R7|Q86US4|Q969I5	Missense_Mutation	SNP	ENST00000378896.3	37	c.41G>A	CCDS13094.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955673	0.73902	.	.	ENSG00000125885	ENST00000378896;ENST00000378883;ENST00000399350;ENST00000378886;ENST00000265187	T;T;T;T	0.02837	4.22;4.14;4.2;4.22	5.96	5.96	0.96718	.	0.142336	0.46758	D	0.000274	T	0.06462	0.0166	N	0.16368	0.405	0.33321	D	0.567305	B;P;D;P	0.53312	0.225;0.932;0.959;0.932	B;P;D;P	0.65684	0.114;0.867;0.937;0.867	T	0.35226	-0.9797	10	0.45353	T	0.12	-22.4199	13.2584	0.60091	0.073:0.0:0.927:0.0	.	14;14;14;14	Q9UJA3-2;E7EQU7;Q9UJA3-3;Q9UJA3	.;.;.;MCM8_HUMAN	K	14	ENSP00000368174:R14K;ENSP00000368161:R14K;ENSP00000368164:R14K;ENSP00000265187:R14K	ENSP00000265187:R14K	R	+	2	0	MCM8	5880702	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.707000	0.68370	2.826000	0.97356	0.655000	0.94253	AGA		0.413	MCM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077900.1	NM_032485		17	47	0	0	0	0	17	47				
RIN2	54453	broad.mit.edu	37	20	19937330	19937330	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:19937330A>G	ENST00000255006.6	+	4	526	c.377A>G	c.(376-378)tAt>tGt	p.Y126C	RIN2_ENST00000440354.2_Missense_Mutation_p.Y77C|RIN2_ENST00000484638.1_3'UTR	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	77	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GACTCAGGCTATGACAGCCTC	0.587																																						uc002wro.1		NA																	0				lung(4)|ovary(1)	5						c.(229-231)TAT>TGT		Ras and Rab interactor 2							45.0	51.0	49.0					20																	19937330		2042	4181	6223	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19937330A>G	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.377A>G	20.37:g.19937330A>G	ENSP00000255006:p.Tyr126Cys					RIN2_uc010gcu.1_Missense_Mutation_p.Y77C|RIN2_uc010gcv.1_5'UTR	p.Y77C	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			3	266	+			77					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.230A>G	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266418	0.80358	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.06528	3.29;3.29	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.22044	0.0531	M	0.61703	1.905	0.32647	N	0.519857	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.996	T	0.11348	-1.0591	9	.	.	.	-12.8196	14.816	0.70034	1.0:0.0:0.0:0.0	.	77;77	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	C	126;77	ENSP00000255006:Y126C;ENSP00000391239:Y77C	.	Y	+	2	0	RIN2	19885330	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.217000	0.89766	1.994000	0.58287	0.459000	0.35465	TAT		0.587	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			6	21	0	0	0	0	6	21				
DNMT3B	1789	broad.mit.edu	37	20	31380492	31380492	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:31380492C>G	ENST00000328111.2	+	9	1303	c.982C>G	c.(982-984)Cag>Gag	p.Q328E	DNMT3B_ENST00000353855.2_Missense_Mutation_p.Q328E|DNMT3B_ENST00000201963.3_Missense_Mutation_p.Q340E|DNMT3B_ENST00000443239.3_Missense_Mutation_p.Q286E|DNMT3B_ENST00000456297.2_Missense_Mutation_p.Q252E|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000348286.2_Missense_Mutation_p.Q328E|DNMT3B_ENST00000344505.4_Missense_Mutation_p.Q328E	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	328					C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATTGGAGGACCAGCTGAAGCC	0.612																																						uc002wyc.2		NA																	0				lung(3)|ovary(2)	5						c.(982-984)CAG>GAG		DNA cytosine-5 methyltransferase 3 beta isoform							70.0	67.0	68.0					20																	31380492		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31380492C>G		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.982C>G	20.37:g.31380492C>G	ENSP00000328547:p.Gln328Glu					DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_Intron|DNMT3B_uc002wyd.2_Missense_Mutation_p.Q328E|DNMT3B_uc002wye.2_Missense_Mutation_p.Q328E|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.Q286E|DNMT3B_uc010zua.1_Missense_Mutation_p.Q252E|DNMT3B_uc002wyf.2_Missense_Mutation_p.Q340E|DNMT3B_uc002wyg.2_Missense_Mutation_p.Q27E	p.Q328E	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN			9	1303	+			328					A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.982C>G	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933190	0.52866	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000443239;ENST00000456297;ENST00000344505;ENST00000201963	T;T;T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28;-0.28;-0.28	5.46	4.48	0.54585	.	0.172643	0.52532	D	0.000065	T	0.56046	0.1959	L	0.33189	0.99	0.80722	D	1	B;B;B;B;B;B;B	0.18610	0.0;0.001;0.001;0.001;0.002;0.001;0.029	B;B;B;B;B;B;B	0.15870	0.003;0.004;0.005;0.003;0.006;0.003;0.014	T	0.54748	-0.8247	10	0.45353	T	0.12	-18.9633	14.7419	0.69461	0.1448:0.8552:0.0:0.0	.	252;286;27;340;328;328;328	E9PBF2;E7EN63;B3KM53;Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;.;.;.;DNM3B_HUMAN	E	328;414;328;328;286;252;328;340	ENSP00000328547:Q328E;ENSP00000313397:Q328E;ENSP00000337764:Q328E;ENSP00000403169:Q286E;ENSP00000412305:Q252E;ENSP00000345105:Q328E;ENSP00000201963:Q340E	ENSP00000201963:Q340E	Q	+	1	0	DNMT3B	30844153	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	2.862000	0.48388	2.576000	0.86940	0.561000	0.74099	CAG		0.612	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		22	64	0	0	0	0	22	64				
RBL1	5933	broad.mit.edu	37	20	35695270	35695270	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:35695270G>A	ENST00000373664.3	-	6	769	c.703C>T	c.(703-705)Cat>Tat	p.H235Y	RBL1_ENST00000344359.3_Missense_Mutation_p.H235Y	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	235					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCAGCAGTATGAAAATCAGAT	0.383																																						uc002xgi.2		NA																	0				lung(5)|skin(3)|ovary(2)	10						c.(703-705)CAT>TAT		retinoblastoma-like protein 1 isoform a							82.0	81.0	81.0					20																	35695270		2203	4300	6503	SO:0001583	missense	5933				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding	g.chr20:35695270G>A	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.703C>T	20.37:g.35695270G>A	ENSP00000362768:p.His235Tyr					RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.H235Y|RBL1_uc010gfv.1_RNA	p.H235Y	NM_002895	NP_002886	P28749	RBL1_HUMAN			6	782	-		Myeloproliferative disorder(115;0.00878)	235					A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	37	c.703C>T	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.394791	0.42512	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.92911	-2.9;-3.13	5.11	3.14	0.36123	.	0.512117	0.22408	N	0.060459	D	0.93271	0.7856	M	0.66939	2.045	0.43782	D	0.996319	D;D	0.67145	0.996;0.966	P;P	0.60682	0.878;0.492	D	0.90187	0.4247	10	0.25106	T	0.35	-23.8834	9.8004	0.40761	0.0725:0.0:0.7871:0.1403	.	235;235	P28749-2;P28749	.;RBL1_HUMAN	Y	235	ENSP00000362768:H235Y;ENSP00000343646:H235Y	ENSP00000343646:H235Y	H	-	1	0	RBL1	35128684	1.000000	0.71417	0.989000	0.46669	0.309000	0.27889	4.707000	0.61852	0.727000	0.32360	-0.500000	0.04577	CAT		0.383	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895		20	72	0	0	0	0	20	72				
NCOA3	8202	broad.mit.edu	37	20	46265274	46265274	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:46265274C>T	ENST00000371998.3	+	12	2335	c.2144C>T	c.(2143-2145)tCt>tTt	p.S715F	NCOA3_ENST00000371997.3_Missense_Mutation_p.S725F|NCOA3_ENST00000372004.3_Missense_Mutation_p.S715F|NCOA3_ENST00000341724.6_Missense_Mutation_p.S725F			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	715					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGTATAACTTCTTGTGGGGAC	0.473																																						uc002xtk.2		NA																	0				ovary(3)|lung(1)|skin(1)	5						c.(2143-2145)TCT>TTT		nuclear receptor coactivator 3 isoform a							81.0	76.0	78.0					20																	46265274		2203	4300	6503	SO:0001583	missense	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46265274C>T	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.2144C>T	20.37:g.46265274C>T	ENSP00000361066:p.Ser715Phe					NCOA3_uc010ght.1_Missense_Mutation_p.S725F|NCOA3_uc002xtl.2_Missense_Mutation_p.S715F|NCOA3_uc002xtm.2_Missense_Mutation_p.S715F|NCOA3_uc002xtn.2_Missense_Mutation_p.S715F|NCOA3_uc010zyc.1_Missense_Mutation_p.S510F	p.S715F	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			12	2349	+			715					A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	37	c.2144C>T	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764092	0.49574	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997	T;T;T;T	0.02258	4.38;4.55;4.55;4.37	5.73	5.73	0.89815	.	0.326384	0.29473	N	0.012055	T	0.04363	0.0120	L	0.47716	1.5	0.29306	N	0.868343	B;B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.001;0.0	B;B;B;B;B;B	0.11329	0.002;0.006;0.002;0.002;0.005;0.002	T	0.14671	-1.0464	10	0.72032	D	0.01	-6.2385	20.27	0.98469	0.0:1.0:0.0:0.0	.	715;725;719;715;715;715	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	F	715;725;715;715;725	ENSP00000342123:S725F;ENSP00000361073:S715F;ENSP00000361066:S715F;ENSP00000361065:S725F	ENSP00000345671:S715F	S	+	2	0	NCOA3	45698681	0.016000	0.18221	0.311000	0.25182	0.948000	0.59901	2.757000	0.47557	2.854000	0.98071	0.655000	0.94253	TCT		0.473	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		22	64	0	0	0	0	22	64				
PPP1R3D	5509	broad.mit.edu	37	20	58514189	58514189	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:58514189G>C	ENST00000370996.3	-	1	1163	c.798C>G	c.(796-798)taC>taG	p.Y266*	FAM217B_ENST00000360816.3_5'Flank|FAM217B_ENST00000358293.3_Intron	NM_006242.3	NP_006233.1	O95685	PPR3D_HUMAN	protein phosphatase 1, regulatory subunit 3D	266	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				dephosphorylation (GO:0016311)|glycogen metabolic process (GO:0005977)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of glycogen catabolic process (GO:0005981)	glycogen granule (GO:0042587)|intracellular membrane-bounded organelle (GO:0043231)	protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|urinary_tract(1)	13	all_lung(29;0.00391)		BRCA - Breast invasive adenocarcinoma(7;5.12e-09)			TGTTGTCCCAGTACTCGGCAC	0.617																																						uc002ybb.2		NA																	0					0						c.(796-798)TAC>TAG		protein phosphatase 1, regulatory subunit 3D							46.0	45.0	45.0					20																	58514189		2203	4300	6503	SO:0001587	stop_gained	5509				glycogen metabolic process		protein binding|protein serine/threonine phosphatase activity	g.chr20:58514189G>C	Y18206	CCDS13483.1	20q13.3	2012-04-17	2011-10-04	2001-08-01	ENSG00000132825	ENSG00000132825		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9294	protein-coding gene	gene with protein product		603326	"""protein phosphatase 1, regulatory (inhibitor) subunit 3D"""	PPP1R6		9414128, 9275233	Standard	NM_006242		Approved		uc002ybb.3	O95685	OTTHUMG00000032876	ENST00000370996.3:c.798C>G	20.37:g.58514189G>C	ENSP00000360035:p.Tyr266*					C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank	p.Y266*	NM_006242	NP_006233	O95685	PPR3D_HUMAN	BRCA - Breast invasive adenocarcinoma(7;5.12e-09)		1	1164	-	all_lung(29;0.00391)		266			CBM21.		Q6DK02	Nonsense_Mutation	SNP	ENST00000370996.3	37	c.798C>G	CCDS13483.1	.	.	.	.	.	.	.	.	.	.	G	40	8.016482	0.98610	.	.	ENSG00000132825	ENST00000370996	.	.	.	5.11	4.16	0.48862	.	0.214588	0.30365	N	0.009797	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.6764	10.8994	0.47043	0.1525:0.0:0.8475:0.0	.	.	.	.	X	266	.	ENSP00000360035:Y266X	Y	-	3	2	PPP1R3D	57947584	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	2.124000	0.42006	1.155000	0.42497	0.561000	0.74099	TAC		0.617	PPP1R3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079940.2	NM_006242		20	35	0	0	0	0	20	35				
NTSR1	4923	broad.mit.edu	37	20	61386205	61386205	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:61386205G>A	ENST00000370501.3	+	2	1254	c.883G>A	c.(883-885)Gtc>Atc	p.V295I		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	295					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCTGGCAGGGTCCAGGCCCT	0.692																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.2		NA																	0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(883-885)GTC>ATC		neurotensin receptor 1							59.0	46.0	50.0					20																	61386205		2203	4296	6499	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61386205G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.883G>A	20.37:g.61386205G>A	ENSP00000359532:p.Val295Ile						p.V295I	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		2	1254	+	Breast(26;3.65e-08)		295			Cytoplasmic (Potential).		Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.883G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	g	3.304	-0.142184	0.06669	.	.	ENSG00000101188	ENST00000370501	T	0.37058	1.22	4.01	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.163445	0.40385	N	0.001109	T	0.10294	0.0252	N	0.01197	-0.965	0.25602	N	0.986589	B	0.06786	0.001	B	0.09377	0.004	T	0.34551	-0.9824	10	0.07990	T	0.79	-24.8674	7.8384	0.29384	0.2532:0.0:0.7468:0.0	.	295	P30989	NTR1_HUMAN	I	295	ENSP00000359532:V295I	ENSP00000359532:V295I	V	+	1	0	NTSR1	60856650	1.000000	0.71417	0.599000	0.28851	0.376000	0.30014	4.160000	0.58164	0.278000	0.22164	0.306000	0.20318	GTC		0.692	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			9	28	0	0	0	0	9	28				
ARFGAP1	55738	broad.mit.edu	37	20	61917778	61917778	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:61917778G>C	ENST00000370283.4	+	12	1035	c.895G>C	c.(895-897)Gag>Cag	p.E299Q	ARFGAP1_ENST00000370275.4_Missense_Mutation_p.Q378H|MIR4326_ENST00000582203.1_RNA|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.E233Q|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.E186Q|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.E254Q|ARFGAP1_ENST00000518794.2_3'UTR|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.E307Q	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	299					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GGGGAAAGCAGAGGGCCCCTT	0.627																																						uc002yem.2		NA																	0				pancreas(1)	1						c.(895-897)GAG>CAG		ADP-ribosylation factor GTPase activating							115.0	91.0	99.0					20																	61917778		2202	4298	6500	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61917778G>C	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.895G>C	20.37:g.61917778G>C	ENSP00000359306:p.Glu299Gln					ARFGAP1_uc011aas.1_Missense_Mutation_p.E254Q|ARFGAP1_uc011aat.1_Missense_Mutation_p.E186Q|ARFGAP1_uc002yel.2_Missense_Mutation_p.E307Q|ARFGAP1_uc002yen.2_Missense_Mutation_p.Q378H|ARFGAP1_uc002yeo.1_RNA|hsa-mir-4326|MI0015866_5'Flank	p.E299Q	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN			12	1007	+	all_cancers(38;1.59e-09)		299					B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.895G>C	CCDS13515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.259096|4.259096	0.80246|0.80246	.|.	.|.	ENSG00000101199|ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000523460;ENST00000519604;ENST00000519273;ENST00000353546|ENST00000370275	T;T;T;T;T;T|T	0.50001|0.36340	1.32;0.81;0.86;0.79;0.76;1.37|1.26	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.182898|.	0.47852|.	D|.	0.000208|.	T|T	0.41465|0.41465	0.1160|0.1160	L|L	0.59436|0.59436	1.845|1.845	0.52501|0.52501	D|D	0.999955|0.999955	P;D;B;B|P	0.53462|0.45283	0.947;0.96;0.032;0.055|0.855	P;P;B;B|B	0.52386|0.41510	0.697;0.556;0.027;0.061|0.359	T|T	0.47724|0.47724	-0.9095|-0.9095	10|9	0.21540|0.87932	T|D	0.41|0	-21.226|-21.226	19.0266|19.0266	0.92934|0.92934	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	186;254;299;307|378	B7Z8H8;E7EV62;Q8N6T3;Q8N6T3-2|B7ZBI2	.;.;ARFG1_HUMAN;.|.	Q|H	299;233;225;55;254;186;307|378	ENSP00000359306:E299Q;ENSP00000449800:E233Q;ENSP00000447037:E225Q;ENSP00000430500:E254Q;ENSP00000443716:E186Q;ENSP00000314615:E307Q|ENSP00000359298:Q378H	ENSP00000314615:E307Q|ENSP00000359298:Q378H	E|Q	+|+	1|3	0|2	ARFGAP1|ARFGAP1	61388223|61388223	1.000000|1.000000	0.71417|0.71417	0.066000|0.066000	0.19879|0.19879	0.193000|0.193000	0.23685|0.23685	6.502000|6.502000	0.73695|0.73695	2.563000|2.563000	0.86464|0.86464	0.563000|0.563000	0.77884|0.77884	GAG|CAG		0.627	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		5	32	0	0	0	0	5	32				
NPBWR2	2832	broad.mit.edu	37	20	62738005	62738005	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr20:62738005C>G	ENST00000369768.1	-	1	519	c.180G>C	c.(178-180)ctG>ctC	p.L60L		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	60					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TGTTGCCAGTCAGCCCCACAG	0.607																																						uc011abt.1		NA																	0				large_intestine(1)	1						c.(178-180)CTG>CTC		neuropeptides B/W receptor 2							80.0	68.0	72.0					20																	62738005		2203	4300	6503	SO:0001819	synonymous_variant	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62738005C>G	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.180G>C	20.37:g.62738005C>G							p.L60L	NM_005286	NP_005277	P48146	NPBW2_HUMAN			1	180	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		60			Helical; Name=1; (Potential).		Q6NWQ6|Q9H4K3	Silent	SNP	ENST00000369768.1	37	c.180G>C	CCDS13557.1																																																																																				0.607	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		17	35	0	0	0	0	17	35				
GART	2618	broad.mit.edu	37	21	34903798	34903798	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr21:34903798C>T	ENST00000381831.3	-	6	857	c.594G>A	c.(592-594)gtG>gtA	p.V198V	GART_ENST00000497313.1_5'UTR|GART_ENST00000361093.5_Silent_p.V198V|GART_ENST00000381839.3_Silent_p.V198V|GART_ENST00000381815.4_Silent_p.V198V	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	198	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	TACATACCGACACCTCTTCTC	0.363																																						uc002yrx.2		NA																	0				ovary(1)	1						c.(592-594)GTG>GTA		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)						138.0	144.0	142.0					21																	34903798		2203	4300	6503	SO:0001819	synonymous_variant	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34903798C>T	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.594G>A	21.37:g.34903798C>T						GART_uc002yrz.2_Silent_p.V198V|GART_uc010gmd.2_5'UTR|GART_uc002yry.2_Silent_p.V198V|GART_uc002ysa.2_Silent_p.V198V	p.V198V	NM_000819	NP_000810	P22102	PUR2_HUMAN			6	729	-			198			ATP (By similarity).|ATP-grasp.		A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Silent	SNP	ENST00000381831.3	37	c.594G>A	CCDS13627.1																																																																																				0.363	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		39	195	0	0	0	0	39	195				
ITSN1	6453	broad.mit.edu	37	21	35093561	35093561	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr21:35093561C>G	ENST00000381318.3	+	3	395	c.107C>G	c.(106-108)tCt>tGt	p.S36C	ITSN1_ENST00000399353.1_Missense_Mutation_p.S36C|ITSN1_ENST00000381285.4_Missense_Mutation_p.S36C|ITSN1_ENST00000381291.4_Missense_Mutation_p.S36C|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399352.1_Missense_Mutation_p.S36C|ITSN1_ENST00000399349.1_Missense_Mutation_p.S36C|ITSN1_ENST00000379960.5_Missense_Mutation_p.S36C|ITSN1_ENST00000399367.3_Missense_Mutation_p.S36C|ITSN1_ENST00000399326.3_Missense_Mutation_p.S36C|ITSN1_ENST00000399355.2_Missense_Mutation_p.S36C|ITSN1_ENST00000399338.4_Missense_Mutation_p.S36C|ITSN1_ENST00000437442.2_Missense_Mutation_p.S36C	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	36	EH 1. {ECO:0000255|PROSITE- ProRule:PRU00077}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AAGCCAATATCTGGATTCATT	0.398																																						uc002yta.1		NA																	0				ovary(3)|skin(1)	4						c.(106-108)TCT>TGT		intersectin 1 isoform ITSN-l							168.0	153.0	158.0					21																	35093561		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35093561C>G	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.107C>G	21.37:g.35093561C>G	ENSP00000370719:p.Ser36Cys					DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Missense_Mutation_p.S36C|ITSN1_uc010gmg.2_Missense_Mutation_p.S36C|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Missense_Mutation_p.S36C|ITSN1_uc010gmi.2_Missense_Mutation_p.S36C|ITSN1_uc010gmj.2_Translation_Start_Site|ITSN1_uc002ysy.2_Missense_Mutation_p.S36C|ITSN1_uc002ysx.2_Missense_Mutation_p.S36C|ITSN1_uc002ytb.1_Missense_Mutation_p.S36C|ITSN1_uc002ytc.1_Missense_Mutation_p.S36C|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Missense_Mutation_p.S36C|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Missense_Mutation_p.S36C|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_5'Flank	p.S36C	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			3	375	+			36			EH 1.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.107C>G	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	C	18.18	3.567403	0.65651	.	.	ENSG00000205726	ENST00000399353;ENST00000444491;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000451686;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47528	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;0.84;1.36;1.36;1.36;1.36;1.36	6.06	6.06	0.98353	EPS15 homology (EH) (2);EF-hand-like domain (1);	0.254839	0.38058	N	0.001840	T	0.66982	0.2845	M	0.65320	2	0.42971	D	0.994437	P;P;P;P;D;P;P;P;P	0.71674	0.577;0.577;0.577;0.926;0.998;0.926;0.926;0.521;0.577	B;B;B;P;D;B;P;B;B	0.63957	0.282;0.282;0.282;0.52;0.92;0.397;0.52;0.185;0.282	T	0.66204	-0.5982	10	0.62326	D	0.03	.	20.2159	0.98296	0.0:1.0:0.0:0.0	.	36;36;36;36;36;36;36;36;36	A8D7D0;A7XZY7;A8CTY7;A8CTY3;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	C	36	ENSP00000382290:S36C;ENSP00000400079:S36C;ENSP00000370719:S36C;ENSP00000370691:S36C;ENSP00000370685:S36C;ENSP00000382301:S36C;ENSP00000382289:S36C;ENSP00000382292:S36C;ENSP00000382286:S36C;ENSP00000407132:S36C;ENSP00000370683:S36C;ENSP00000382275:S36C;ENSP00000387377:S36C;ENSP00000382265:S36C;ENSP00000369294:S36C	ENSP00000369294:S36C	S	+	2	0	ITSN1	34015431	1.000000	0.71417	0.995000	0.50966	0.976000	0.68499	4.421000	0.59848	2.882000	0.98803	0.655000	0.94253	TCT		0.398	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024		19	68	0	0	0	0	19	68				
SERPIND1	3053	broad.mit.edu	37	22	21133697	21133697	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:21133697G>C	ENST00000215727.5	+	2	380	c.97G>C	c.(97-99)Gaa>Caa	p.E33Q	PI4KA_ENST00000466162.1_Intron|SERPIND1_ENST00000406799.1_Missense_Mutation_p.E33Q|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	33					blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|heparin binding (GO:0008201)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)|Sulodexide(DB06271)	GAAAGGAGGGGAAACTGCTCA	0.493																																						uc002ztb.1		NA																	0					0						c.(97-99)GAA>CAA		heparin cofactor II precursor	Ardeparin(DB00407)						50.0	50.0	50.0					22																	21133697		2203	4300	6503	SO:0001583	missense	3053				blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity	g.chr22:21133697G>C	M12849	CCDS13783.1	22q11.21	2014-02-18	2005-08-18		ENSG00000099937	ENSG00000099937		"""Serine (or cysteine) peptidase inhibitors"""	4838	protein-coding gene	gene with protein product	"""heparin cofactor II"""	142360	"""serine (or cysteine) proteinase inhibitor, clade D (heparin cofactor), member 1"""	HCF2		1671335, 24172014	Standard	XM_005261597		Approved	HC-II, HLS2, HC2, D22S673	uc002ztb.1	P05546	OTTHUMG00000150755	ENST00000215727.5:c.97G>C	22.37:g.21133697G>C	ENSP00000215727:p.Glu33Gln					PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Missense_Mutation_p.E61Q	p.E33Q	NM_000185	NP_000176	P05546	HEP2_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		2	164	+	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	33					B2RAI1|D3DX34|Q6IBZ5	Missense_Mutation	SNP	ENST00000215727.5	37	c.97G>C	CCDS13783.1	.	.	.	.	.	.	.	.	.	.	G	9.101	1.004139	0.19199	.	.	ENSG00000099937	ENST00000215727;ENST00000406799	D;D	0.84516	-1.86;-1.86	3.55	-3.06	0.05379	.	0.789525	0.12160	N	0.494123	T	0.62060	0.2397	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.48681	-0.9014	10	0.35671	T	0.21	.	1.3634	0.02196	0.4235:0.1433:0.2898:0.1433	.	33;33	Q8IVC0;P05546	.;HEP2_HUMAN	Q	33	ENSP00000215727:E33Q;ENSP00000384050:E33Q	ENSP00000215727:E33Q	E	+	1	0	SERPIND1	19463697	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.065000	0.11617	-0.387000	0.07809	-0.137000	0.14449	GAA		0.493	SERPIND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319961.1	NM_000185		9	65	0	0	0	0	9	65				
RNF185	91445	broad.mit.edu	37	22	31592944	31592944	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:31592944C>G	ENST00000326132.6	+	5	490	c.331C>G	c.(331-333)Caa>Gaa	p.Q111E	RNF185_ENST00000426256.2_Missense_Mutation_p.Q49E|RNF185_ENST00000266252.7_Intron	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185	111					autophagy (GO:0006914)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						TCCTCGTCCTCAAGGACAGAG	0.458																																						uc003akb.2		NA																	0					0						c.(331-333)CAA>GAA		ring finger protein 185 isoform 1							51.0	55.0	54.0					22																	31592944		2203	4300	6503	SO:0001583	missense	91445					integral to membrane	zinc ion binding	g.chr22:31592944C>G		CCDS13890.1, CCDS46689.1	22q12.2	2013-01-09			ENSG00000138942	ENSG00000138942		"""RING-type (C3HC4) zinc fingers"""	26783	protein-coding gene	gene with protein product	"""hypothetical protein FLJ38628"""					12477932	Standard	NM_152267		Approved	FLJ38628	uc003akb.3	Q96GF1	OTTHUMG00000151253	ENST00000326132.6:c.331C>G	22.37:g.31592944C>G	ENSP00000320508:p.Gln111Glu					RNF185_uc010gwh.2_RNA|RNF185_uc011alm.1_Missense_Mutation_p.Q49E|RNF185_uc003akc.2_Missense_Mutation_p.Q49E|RNF185_uc003ake.2_Intron	p.Q111E	NM_152267	NP_689480	Q96GF1	RN185_HUMAN			5	531	+			111					A8K5C1|A9X3T8|Q8N900	Missense_Mutation	SNP	ENST00000326132.6	37	c.331C>G	CCDS13890.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300432	0.60195	.	.	ENSG00000138942	ENST00000426256;ENST00000326132;ENST00000436825	D	0.94897	-3.55	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.95815	0.8638	L	0.54323	1.7	0.58432	D	0.999999	P;P	0.52577	0.954;0.458	D;P	0.65140	0.932;0.585	D	0.93200	0.6591	10	0.12103	T	0.63	.	18.8912	0.92406	0.0:1.0:0.0:0.0	.	49;111	B4DMD6;Q96GF1	.;RN185_HUMAN	E	49;111;111	ENSP00000320508:Q111E	ENSP00000320508:Q111E	Q	+	1	0	RNF185	29922944	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.445000	0.80570	2.716000	0.92895	0.555000	0.69702	CAA		0.458	RNF185-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321927.2	NM_152267		14	104	0	0	0	0	14	104				
DEPDC5	9681	broad.mit.edu	37	22	32289694	32289694	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:32289694A>T	ENST00000382112.3	+	38	4203	c.4133A>T	c.(4132-4134)aAg>aTg	p.K1378M	DEPDC5_ENST00000266091.3_Missense_Mutation_p.K1365M|DEPDC5_ENST00000400249.2_Missense_Mutation_p.K1356M|DEPDC5_ENST00000382111.2_Missense_Mutation_p.K1387M|DEPDC5_ENST00000539165.1_Missense_Mutation_p.K204M|DEPDC5_ENST00000400248.2_Missense_Mutation_p.K1356M|DEPDC5_ENST00000400246.1_Missense_Mutation_p.K1387M|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000535622.1_Missense_Mutation_p.K1287M	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	1387					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TTTGAGATCAAGCTGCACTGG	0.537																																						uc003als.2		NA																	0				ovary(4)|central_nervous_system(3)|pancreas(1)	8						c.(4066-4068)AAG>ATG		DEP domain containing 5 isoform 1							80.0	85.0	83.0					22																	32289694		2054	4206	6260	SO:0001583	missense	9681				intracellular signal transduction			g.chr22:32289694A>T	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.4133A>T	22.37:g.32289694A>T	ENSP00000371546:p.Lys1378Met					DEPDC5_uc011als.1_Missense_Mutation_p.K1287M|DEPDC5_uc011alu.1_Missense_Mutation_p.K1387M|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.K1378M|DEPDC5_uc003alu.2_Missense_Mutation_p.K805M|DEPDC5_uc003alv.2_RNA|DEPDC5_uc003alw.2_Missense_Mutation_p.K654M|DEPDC5_uc011alx.1_Missense_Mutation_p.K204M|DEPDC5_uc010gwk.2_Missense_Mutation_p.K382M|DEPDC5_uc011aly.1_Missense_Mutation_p.K204M	p.K1356M	NM_014662	NP_055477	O75140	DEPD5_HUMAN			38	4209	+			1356					A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	c.4067A>T	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.9|23.9	4.465075|4.465075	0.84425|0.84425	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000535622;ENST00000266091;ENST00000400249;ENST00000382109;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248;ENST00000539165|ENST00000433147	T;T;T;T;T;T;T|.	0.32753|.	1.44;1.86;1.86;1.83;1.86;1.83;1.86|.	5.12|5.12	5.12|5.12	0.69794|0.69794	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60170|0.60170	0.2248|0.2248	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.91635|.	0.997;0.998;0.999;0.998;0.996;0.996|.	T|T	0.57768|0.57768	-0.7754|-0.7754	10|5	0.56958|.	D|.	0.05|.	.|.	14.1239|14.1239	0.65208|0.65208	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1387;1287;773;1365;1378;1356|.	B9EGN9;B4DH93;O75140-7;O75140-4;A8MPX9;O75140|.	.;.;.;.;.;DEPD5_HUMAN|.	M|H	1287;1365;1356;1287;1387;1378;1387;1356;204|762	ENSP00000440210:K1287M;ENSP00000266091:K1365M;ENSP00000383108:K1356M;ENSP00000383105:K1387M;ENSP00000371546:K1378M;ENSP00000371545:K1387M;ENSP00000383107:K1356M|.	ENSP00000266091:K1365M|.	K|Q	+|+	2|3	0|2	DEPDC5|DEPDC5	30619694|30619694	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.003000|9.003000	0.93577|0.93577	1.929000|1.929000	0.55896|0.55896	0.533000|0.533000	0.62120|0.62120	AAG|CAA		0.537	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129087.1	NM_014662		29	61	0	0	0	0	29	61				
MGAT3	4248	broad.mit.edu	37	22	39883475	39883475	+	Silent	SNP	C	C	T	rs145462426	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:39883475C>T	ENST00000341184.6	+	2	338	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	41	Pro-rich.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					TGGCCTCCCTCAGCCCTAACC	0.602													C|||	2	0.000399361	0.0015	0.0	5008	,	,		14599	0.0		0.0	False		,,,				2504	0.0					uc003axv.3		NA																	0					0						c.(121-123)CTC>CTT		mannosyl (beta-1,4-)-glycoprotein		C	,	7,4399	12.9+/-30.5	0,7,2196	200.0	204.0	202.0		123,123	3.1	1.0	22	dbSNP_134	202	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MGAT3	NM_001098270.1,NM_002409.4	,	0,7,6496	TT,TC,CC		0.0,0.1589,0.0538	,	41/534,41/534	39883475	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39883475C>T	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.123C>T	22.37:g.39883475C>T						MGAT3_uc010gxy.2_Silent_p.L41L	p.L41L	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	362	+	Melanoma(58;0.04)		41			Lumenal (Potential).|Pro-rich.		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Silent	SNP	ENST00000341184.6	37	c.123C>T	CCDS13994.2																																																																																				0.602	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		66	300	0	0	0	0	66	300				
MGAT3	4248	broad.mit.edu	37	22	39884111	39884111	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:39884111C>G	ENST00000341184.6	+	2	974	c.759C>G	c.(757-759)ttC>ttG	p.F253L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	253					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CGCTCAAGTTCCGGGAGATGC	0.642																																						uc003axv.3		NA																	0					0						c.(757-759)TTC>TTG		mannosyl (beta-1,4-)-glycoprotein							53.0	46.0	48.0					22																	39884111		2203	4299	6502	SO:0001583	missense	4248				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity	g.chr22:39884111C>G	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.759C>G	22.37:g.39884111C>G	ENSP00000345270:p.Phe253Leu					MGAT3_uc010gxy.2_Missense_Mutation_p.F253L	p.F253L	NM_002409	NP_002400	Q09327	MGAT3_HUMAN			2	998	+	Melanoma(58;0.04)		253			Lumenal (Potential).		A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	c.759C>G	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444321	0.25987	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.43	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.40372	0.1114	N	0.13098	0.295	0.44995	D	0.998019	B	0.14438	0.01	B	0.22601	0.04	T	0.20240	-1.0281	9	0.21014	T	0.42	.	14.5572	0.68109	0.0:0.9283:0.0:0.0717	.	253	Q09327	MGAT3_HUMAN	L	253	.	ENSP00000345270:F253L	F	+	3	2	MGAT3	38214057	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.727000	0.47311	2.571000	0.86741	0.561000	0.74099	TTC		0.642	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409		16	81	0	0	0	0	16	81				
EP300	2033	broad.mit.edu	37	22	41553402	41553402	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:41553402G>A	ENST00000263253.7	+	18	4710	c.3491G>A	c.(3490-3492)tGt>tAt	p.C1164Y		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1164					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGATACTGTTGTGGCAGAAAG	0.393			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													uc003azl.3		NA		Rec	yes		22	22q13	2033	T| N|F|Mis|O	300 kd E1A-Binding protein gene			"""L, E"""	MLL|RUNXBP2		colorectal|breast|pancreatic|AML|ALL|DLBCL		0				haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1)	64						c.(3490-3492)TGT>TAT		E1A binding protein p300							96.0	95.0	95.0					22																	41553402		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi_syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41553402G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3491G>A	22.37:g.41553402G>A	ENSP00000263253:p.Cys1164Tyr						p.C1164Y	NM_001429	NP_001420	Q09472	EP300_HUMAN			18	3886	+			1164					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.3491G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929183	0.73327	.	.	ENSG00000100393	ENST00000263253	D	0.87103	-2.21	5.7	5.7	0.88788	Bromodomain (1);Domain of unknown function DUF902, CREBbp (1);	0.000000	0.53938	D	0.000057	D	0.94493	0.8227	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94712	0.7893	10	0.87932	D	0	-4.385	19.8463	0.96708	0.0:0.0:1.0:0.0	.	1164	Q09472	EP300_HUMAN	Y	1164	ENSP00000263253:C1164Y	ENSP00000263253:C1164Y	C	+	2	0	EP300	39883348	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.688000	0.91661	0.655000	0.94253	TGT		0.393	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		35	108	0	0	0	0	35	108				
PKDREJ	10343	broad.mit.edu	37	22	46657755	46657755	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:46657755C>T	ENST00000253255.5	-	1	1464	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	489	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTATAGAAATCACGGCTTGCA	0.378																																						uc003bhh.2		NA																	0				breast(3)|ovary(2)	5						c.(1465-1467)GAT>AAT		receptor for egg jelly-like protein precursor							122.0	139.0	133.0					22																	46657755		2203	4300	6503	SO:0001583	missense	10343				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity	g.chr22:46657755C>T	AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.1465G>A	22.37:g.46657755C>T	ENSP00000253255:p.Asp489Asn						p.D489N	NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)	1	1465	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	489			Extracellular (Potential).|REJ.		B1AJY3|O95850	Missense_Mutation	SNP	ENST00000253255.5	37	c.1465G>A	CCDS14073.1	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195184	0.58017	.	.	ENSG00000130943	ENST00000253255	T	0.69806	-0.43	5.18	2.88	0.33553	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	1.135150	0.06676	N	0.767190	T	0.71290	0.3322	L	0.59436	1.845	0.09310	N	1	D	0.60575	0.988	P	0.57057	0.812	T	0.55309	-0.8161	10	0.23891	T	0.37	-11.9938	5.5016	0.16831	0.0:0.4377:0.3576:0.2046	.	489	Q9NTG1	PKDRE_HUMAN	N	489	ENSP00000253255:D489N	ENSP00000253255:D489N	D	-	1	0	PKDREJ	45036419	0.113000	0.22115	0.016000	0.15963	0.068000	0.16541	0.940000	0.28992	1.218000	0.43458	0.655000	0.94253	GAT		0.378	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318466.1	NM_006071		59	293	0	0	0	0	59	293				
TBC1D22A	25771	broad.mit.edu	37	22	47193380	47193380	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:47193380C>G	ENST00000337137.4	+	4	666	c.500C>G	c.(499-501)tCt>tGt	p.S167C	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.S120C|TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.S120C|TBC1D22A_ENST00000407381.3_Intron	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	167							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		AGGTCCCAGTCTCTCCCACAC	0.652											OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003bib.2		NA																	0				ovary(1)	1						c.(499-501)TCT>TGT		TBC1 domain family, member 22A							71.0	61.0	64.0					22																	47193380		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47193380C>G	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.500C>G	22.37:g.47193380C>G	ENSP00000336724:p.Ser167Cys		OREG0026659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	945	TBC1D22A_uc010haf.2_Missense_Mutation_p.S137C|TBC1D22A_uc003bic.2_Intron|TBC1D22A_uc003bie.2_Intron|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.S120C	p.S167C	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	4	635	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	167					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.500C>G	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	19.06	3.754658	0.69648	.	.	ENSG00000054611	ENST00000337137;ENST00000380995;ENST00000406733	T;T;T	0.52295	1.72;0.67;1.72	4.68	4.68	0.58851	.	0.053911	0.85682	D	0.000000	T	0.54565	0.1866	M	0.82517	2.595	0.80722	D	1	B;B	0.32040	0.353;0.353	B;B	0.32762	0.152;0.152	T	0.63484	-0.6627	10	0.72032	D	0.01	-8.468	16.3388	0.83075	0.0:1.0:0.0:0.0	.	167;167	B9A6M3;Q8WUA7	.;TB22A_HUMAN	C	167;120;120	ENSP00000336724:S167C;ENSP00000370383:S120C;ENSP00000385634:S120C	ENSP00000336724:S167C	S	+	2	0	TBC1D22A	45572044	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	5.142000	0.64820	2.412000	0.81896	0.544000	0.68410	TCT		0.652	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346		20	92	0	0	0	0	20	92				
SHANK3	85358	broad.mit.edu	37	22	51137179	51137179	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr22:51137179C>T	ENST00000414786.2	+	12	1745	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	SHANK3_ENST00000445220.2_Silent_p.F521F|SHANK3_ENST00000262795.3_Silent_p.F536F			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	520	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CGGGCTGGTTCCCGGCCGACT	0.667																																						uc003bne.1		NA																	0				central_nervous_system(1)	1						c.(1606-1608)TTC>TTT		SH3 and multiple ankyrin repeat domains 3							34.0	42.0	40.0					22																	51137179		2066	4203	6269	SO:0001819	synonymous_variant	85358							g.chr22:51137179C>T	AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.1518C>T	22.37:g.51137179C>T						SHANK3_uc003bnf.1_5'UTR	p.F536F	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.22)	13	1608	+		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	536					D7UT47|Q8TET3	Silent	SNP	ENST00000414786.2	37	c.1608C>T																																																																																					0.667	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000316674.2	NM_001080420		10	48	0	0	0	0	10	48				
NT5DC2	64943	broad.mit.edu	37	3	52561343	52561343	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:52561343G>C	ENST00000307076.4	-	10	1375	c.975C>G	c.(973-975)atC>atG	p.I325M	NT5DC2_ENST00000307092.4_Missense_Mutation_p.I266M|NT5DC2_ENST00000490681.1_5'Flank|NT5DC2_ENST00000422318.2_Missense_Mutation_p.I362M|NT5DC2_ENST00000459839.1_Missense_Mutation_p.I337M	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	325							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCAAGCGGGTGATCCGGTCCC	0.612																																						uc003deo.2		NA																	0					0						c.(973-975)ATC>ATG		5'-nucleotidase domain containing 2 isoform 2							125.0	119.0	121.0					3																	52561343		2203	4300	6503	SO:0001583	missense	64943						hydrolase activity|metal ion binding	g.chr3:52561343G>C	AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.975C>G	3.37:g.52561343G>C	ENSP00000302468:p.Ile325Met					NT5DC2_uc003dem.2_Missense_Mutation_p.I195M|NT5DC2_uc003den.2_Missense_Mutation_p.I362M|NT5DC2_uc010hmi.2_Missense_Mutation_p.I337M|NT5DC2_uc010hmj.2_Missense_Mutation_p.I141M	p.I325M	NM_022908	NP_075059	Q9H857	NT5D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)	10	1399	-			325					C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	ENST00000307076.4	37	c.975C>G	CCDS2858.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.68|15.68	2.906164|2.906164	0.52333|0.52333	.|.	.|.	ENSG00000168268|ENSG00000168268	ENST00000489316|ENST00000307092;ENST00000463947;ENST00000307076;ENST00000422318;ENST00000459839	.|T;T;T;T;T	.|0.23147	.|1.92;1.92;1.92;1.92;1.92	5.31|5.31	2.51|2.51	0.30379|0.30379	.|HAD-like domain (2);	.|0.089751	.|0.64402	.|D	.|0.000001	T|T	0.37758|0.37758	0.1015|0.1015	M|M	0.64170|0.64170	1.965|1.965	0.49582|0.49582	D|D	0.999807|0.999807	.|D;P;D	.|0.63880	.|0.993;0.949;0.984	.|D;P;P	.|0.65323	.|0.934;0.793;0.903	T|T	0.14062|0.14062	-1.0486|-1.0486	5|10	.|0.51188	.|T	.|0.08	-18.8935|-18.8935	3.7947|3.7947	0.08734|0.08734	0.2376:0.0:0.3821:0.3803|0.2376:0.0:0.3821:0.3803	.|.	.|337;325;362	.|C9JTZ6;Q9H857;E9PAL9	.|.;NT5D2_HUMAN;.	D|M	247|266;39;325;362;337	.|ENSP00000306017:I266M;ENSP00000418780:I39M;ENSP00000302468:I325M;ENSP00000406933:I362M;ENSP00000419547:I337M	.|ENSP00000302468:I325M	H|I	-|-	1|3	0|3	NT5DC2|NT5DC2	52536383|52536383	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.809000|0.809000	0.45718|0.45718	0.805000|0.805000	0.27112|0.27112	0.617000|0.617000	0.30160|0.30160	-0.324000|-0.324000	0.08512|0.08512	CAC|ATC		0.612	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000351509.1	NM_022908		25	37	0	0	0	0	25	37				
PBRM1	55193	broad.mit.edu	37	3	52675991	52675991	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:52675991C>A	ENST00000296302.7	-	10	1067	c.1066G>T	c.(1066-1068)Gaa>Taa	p.E356*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E356*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E356*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E356*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E324*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E356*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E356*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E356*			Q86U86	PB1_HUMAN	polybromo 1	356					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCATCTTCTTCACTTTCTGAG	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2		NA		Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(1066-1068)GAA>TAA		polybromo 1 isoform 4							308.0	296.0	300.0					3																	52675991		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52675991C>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1066G>T	3.37:g.52675991C>A	ENSP00000296302:p.Glu356*					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Nonsense_Mutation_p.E356*|PBRM1_uc003der.2_Nonsense_Mutation_p.E324*|PBRM1_uc003det.2_Nonsense_Mutation_p.E356*|PBRM1_uc003deu.2_Nonsense_Mutation_p.E356*|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Nonsense_Mutation_p.E356*|PBRM1_uc010hmk.1_Nonsense_Mutation_p.E356*|PBRM1_uc003dey.2_Nonsense_Mutation_p.E356*|PBRM1_uc003dez.1_Nonsense_Mutation_p.E356*|PBRM1_uc003dfb.1_Nonsense_Mutation_p.E254*	p.E356*	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	10	1078	-			356					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.1066G>T		.	.	.	.	.	.	.	.	.	.	C	38	6.939715	0.97948	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.71	5.71	0.89125	.	0.101407	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-29.0106	19.8635	0.96793	0.0:1.0:0.0:0.0	.	.	.	.	X	324;356;356;356;356;356;356;356;356;300	.	ENSP00000296302:E356X	E	-	1	0	PBRM1	52651031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.156000	0.77453	2.700000	0.92200	0.650000	0.86243	GAA		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		78	177	1	0	1.02e-41	1.13e-41	78	177				
TMEM45A	55076	broad.mit.edu	37	3	100277257	100277257	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:100277257T>G	ENST00000323523.4	+	4	725	c.412T>G	c.(412-414)Ttc>Gtc	p.F138V	TMEM45A_ENST00000403410.1_Missense_Mutation_p.F154V	NM_018004.1	NP_060474.1	Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	138						integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						AGCCTTTATCTTCTACAACCA	0.478																																						uc003dtz.1		NA																	0				skin(2)|ovary(1)	3						c.(412-414)TTC>GTC		transmembrane protein 45A							128.0	114.0	119.0					3																	100277257		2203	4300	6503	SO:0001583	missense	55076					integral to membrane		g.chr3:100277257T>G	AK000996	CCDS2937.1	3q12.2	2005-02-04			ENSG00000181458	ENSG00000181458			25480	protein-coding gene	gene with protein product						12477932	Standard	XM_005247568		Approved	FLJ10134, DERP7	uc003dtz.1	Q9NWC5	OTTHUMG00000150327	ENST00000323523.4:c.412T>G	3.37:g.100277257T>G	ENSP00000319009:p.Phe138Val					TMEM45A_uc003dua.1_Missense_Mutation_p.F154V	p.F138V	NM_018004	NP_060474	Q9NWC5	TM45A_HUMAN			4	725	+			138					Q53YW5	Missense_Mutation	SNP	ENST00000323523.4	37	c.412T>G	CCDS2937.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.399369	0.83120	.	.	ENSG00000181458	ENST00000323523;ENST00000403410;ENST00000449609	T;T;T	0.59502	0.26;0.26;0.26	6.07	4.9	0.64082	.	0.131841	0.64402	D	0.000001	T	0.77896	0.4199	M	0.89968	3.075	0.58432	D	0.999996	P;D	0.65815	0.955;0.995	P;D	0.65987	0.763;0.94	T	0.81028	-0.1118	10	0.59425	D	0.04	-8.8845	11.8999	0.52678	0.1308:0.0:0.0:0.8692	.	154;138	C9J9Z5;Q9NWC5	.;TM45A_HUMAN	V	138;154;154	ENSP00000319009:F138V;ENSP00000385089:F154V;ENSP00000405597:F154V	ENSP00000319009:F138V	F	+	1	0	TMEM45A	101759947	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.334000	0.59291	1.095000	0.41419	0.528000	0.53228	TTC		0.478	TMEM45A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317571.1	NM_018004		36	98	0	0	0	0	36	98				
SLC15A2	6565	broad.mit.edu	37	3	121641670	121641670	+	Nonsense_Mutation	SNP	C	C	T	rs145317059		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:121641670C>T	ENST00000489711.1	+	9	1217	c.829C>T	c.(829-831)Cga>Tga	p.R277*	SLC15A2_ENST00000295605.2_Nonsense_Mutation_p.R246*|AC072031.1_ENST00000581491.1_RNA	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	277					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CATTCCAAAGCGACAGCACTG	0.428													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19401	0.0		0.0	False		,,,				2504	0.0					uc003eep.2		NA																	0				skin(1)	1						c.(829-831)CGA>TGA		peptide transporter 2 isoform a	Cefadroxil(DB01140)	C	stop/ARG,stop/ARG	3,4403	6.2+/-15.9	0,3,2200	64.0	62.0	63.0		736,829	2.5	1.0	3	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained,stop-gained	SLC15A2	NM_001145998.1,NM_021082.3	,	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	,	246/699,277/730	121641670	4,13002	2203	4300	6503	SO:0001587	stop_gained	6565				protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding	g.chr3:121641670C>T	BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.829C>T	3.37:g.121641670C>T	ENSP00000417085:p.Arg277*					SLC15A2_uc011bjn.1_Nonsense_Mutation_p.R246*	p.R277*	NM_021082	NP_066568	Q16348	S15A2_HUMAN		GBM - Glioblastoma multiforme(114;0.0967)	9	982	+			277					A8K1A5|B4E2A7	Nonsense_Mutation	SNP	ENST00000489711.1	37	c.829C>T	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001546	0.93227	6.81E-4	1.16E-4	ENSG00000163406	ENST00000489711;ENST00000542599;ENST00000295605	.	.	.	5.63	2.49	0.30216	.	0.050908	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.7098	12.6996	0.57024	0.7196:0.2804:0.0:0.0	.	.	.	.	X	277;239;246	.	ENSP00000295605:R246X	R	+	1	2	SLC15A2	123124360	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.653000	0.46691	0.248000	0.21435	-0.188000	0.12872	CGA		0.428	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082		21	36	0	0	0	0	21	36				
ACPP	55	broad.mit.edu	37	3	132086633	132086633	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:132086633C>G	ENST00000351273.7	+	11	1274	c.1224C>G	c.(1222-1224)ctC>ctG	p.L408L		NM_001134194.1	NP_001127666.1	P15309	PPAP_HUMAN	acid phosphatase, prostate	0					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GCCGTGGACTCTGCTGGCAGA	0.483																																						uc003eop.3		NA																	0				ovary(1)	1						c.(1222-1224)CTC>CTG		acid phosphatase, prostate long isoform							369.0	311.0	328.0					3																	132086633		1568	3582	5150	SO:0001819	synonymous_variant	55					extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	g.chr3:132086633C>G		CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000351273.7:c.1224C>G	3.37:g.132086633C>G							p.L408L	NM_001134194	NP_001127666	P15309	PPAP_HUMAN			11	1314	+			Error:Variant_position_missing_in_P15309_after_alignment					D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Silent	SNP	ENST00000351273.7	37	c.1224C>G	CCDS46916.1																																																																																				0.483	ACPP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356701.1	NM_001099		7	323	0	0	0	0	7	323				
PPP2R3A	5523	broad.mit.edu	37	3	135720782	135720782	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:135720782T>C	ENST00000264977.3	+	2	1059	c.442T>C	c.(442-444)Tct>Cct	p.S148P	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	148					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein catabolic process (GO:0045732)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|somite development (GO:0061053)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAGTTAAGTCTGACTCATT	0.403																																						uc003eqv.1		NA																	0				ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(442-444)TCT>CCT		protein phosphatase 2, regulatory subunit B'',							71.0	74.0	73.0					3																	135720782		2203	4300	6503	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135720782T>C	L12146	CCDS3087.1, CCDS3088.1, CCDS54642.1	3q22.2-q22.3	2013-01-10	2010-06-18	2002-04-26	ENSG00000073711	ENSG00000073711	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	9307	protein-coding gene	gene with protein product		604944	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'' (PR 72), alpha isoform and (PR 130), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B'', alpha"""	PPP2R3		8392071	Standard	NM_002718		Approved		uc003eqv.2	Q06190	OTTHUMG00000159766	ENST00000264977.3:c.442T>C	3.37:g.135720782T>C	ENSP00000264977:p.Ser148Pro					PPP2R3A_uc011blz.1_Intron	p.S148P	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	1007	+			148					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.442T>C	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	T	5.162	0.215411	0.09810	.	.	ENSG00000073711	ENST00000264977	T	0.05258	3.47	5.81	4.54	0.55810	.	0.065786	0.64402	D	0.000003	T	0.04588	0.0125	L	0.29908	0.895	0.80722	D	1	B	0.18610	0.029	B	0.18871	0.023	T	0.41448	-0.9508	10	0.15952	T	0.53	.	7.2082	0.25919	0.1407:0.0755:0.0:0.7838	.	148	Q06190	P2R3A_HUMAN	P	148	ENSP00000264977:S148P	ENSP00000264977:S148P	S	+	1	0	PPP2R3A	137203472	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.506000	0.60428	2.217000	0.71921	0.533000	0.62120	TCT		0.403	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1	NM_002718		30	66	0	0	0	0	30	66				
ZIC1	7545	broad.mit.edu	37	3	147128485	147128485	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:147128485G>A	ENST00000282928.4	+	1	1315	c.586G>A	c.(586-588)Ggc>Agc	p.G196S		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	196					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						GCAGCTGCACGGCTACGGGCC	0.652																																						uc003ewe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(586-588)GGC>AGC		zinc finger protein of the cerebellum 1							41.0	44.0	43.0					3																	147128485		2203	4299	6502	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128485G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.586G>A	3.37:g.147128485G>A	ENSP00000282928:p.Gly196Ser						p.G196S	NM_003412	NP_003403	Q15915	ZIC1_HUMAN			1	1305	+			196					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.586G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	17.20	3.328355	0.60743	.	.	ENSG00000152977	ENST00000282928	T	0.32988	1.43	3.31	3.31	0.37934	.	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	N	0.25201	0.72	0.80722	D	1	P	0.42941	0.794	B	0.38500	0.275	T	0.05989	-1.0852	10	0.30854	T	0.27	.	15.1323	0.72533	0.0:0.0:1.0:0.0	.	196	Q15915	ZIC1_HUMAN	S	196	ENSP00000282928:G196S	ENSP00000282928:G196S	G	+	1	0	ZIC1	148611175	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.729000	0.54999	1.847000	0.53656	0.549000	0.68633	GGC		0.652	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		14	44	0	0	0	0	14	44				
KLHL6	89857	broad.mit.edu	37	3	183209891	183209891	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:183209891C>T	ENST00000341319.3	-	7	1725	c.1690G>A	c.(1690-1692)Ggc>Agc	p.G564S		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	564					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)					breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			TCCCGCCCGCCGGTGATGTAG	0.672																																						uc003flr.2		NA																	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(1690-1692)GGC>AGC		kelch-like 6							71.0	70.0	70.0					3																	183209891		2203	4300	6503	SO:0001583	missense	89857							g.chr3:183209891C>T	AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.1690G>A	3.37:g.183209891C>T	ENSP00000341342:p.Gly564Ser					KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA	p.G564S	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)		7	1748	-	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		564			Kelch 6.		B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	ENST00000341319.3	37	c.1690G>A	CCDS3245.2	.	.	.	.	.	.	.	.	.	.	C	36	5.624913	0.96660	.	.	ENSG00000172578	ENST00000341319	D	0.98792	-5.14	5.42	5.42	0.78866	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	D	0.99474	0.9813	H	0.96111	3.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98312	1.0524	10	0.87932	D	0	.	19.2033	0.93720	0.0:1.0:0.0:0.0	.	564	Q8WZ60	KLHL6_HUMAN	S	564	ENSP00000341342:G564S	ENSP00000341342:G564S	G	-	1	0	KLHL6	184692585	1.000000	0.71417	0.263000	0.24496	0.925000	0.55904	7.625000	0.83145	2.557000	0.86248	0.491000	0.48974	GGC		0.672	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309024.1	NM_130446		30	78	0	0	0	0	30	78				
EHHADH	1962	broad.mit.edu	37	3	184910588	184910588	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:184910588G>A	ENST00000231887.3	-	7	1673	c.1598C>T	c.(1597-1599)tCt>tTt	p.S533F	EHHADH-AS1_ENST00000417720.1_RNA|EHHADH_ENST00000456310.1_Missense_Mutation_p.S437F	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	533	3-hydroxyacyl-CoA dehydrogenase.				fatty acid beta-oxidation (GO:0006635)|internal protein amino acid acetylation (GO:0006475)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|coenzyme binding (GO:0050662)|dodecenoyl-CoA delta-isomerase activity (GO:0004165)|enoyl-CoA hydratase activity (GO:0004300)|enzyme binding (GO:0019899)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)			CCCCTTTCTAGATTTCCAGCC	0.483																																						uc003fpf.2		NA																	0				ovary(3)	3						c.(1597-1599)TCT>TTT		enoyl-Coenzyme A, hydratase/3-hydroxyacyl	NADH(DB00157)						62.0	59.0	60.0					3																	184910588		2203	4300	6503	SO:0001583	missense	1962					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity	g.chr3:184910588G>A	L07077	CCDS33901.1, CCDS54694.1	3q26.3-q28	2012-07-13	2010-04-30		ENSG00000113790	ENSG00000113790	4.2.1.17, 1.1.1.35, 5.3.3.8		3247	protein-coding gene	gene with protein product		607037	"""enoyl-Coenzyme A, hydratase/3-hydroxyacyl Coenzyme A dehydrogenase"""	ECHD		8188243	Standard	NM_001966		Approved		uc003fpf.3	Q08426	OTTHUMG00000156698	ENST00000231887.3:c.1598C>T	3.37:g.184910588G>A	ENSP00000231887:p.Ser533Phe					EHHADH_uc011brs.1_Missense_Mutation_p.S437F	p.S533F	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		7	1625	-	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		533			3-hydroxyacyl-CoA dehydrogenase.		A8K6Y3|B4DWG3|D3DNU0|Q58EZ5	Missense_Mutation	SNP	ENST00000231887.3	37	c.1598C>T	CCDS33901.1	.	.	.	.	.	.	.	.	.	.	G	9.562	1.118669	0.20877	.	.	ENSG00000113790	ENST00000231887;ENST00000456310	D;D	0.89343	-2.5;-2.5	5.91	1.72	0.24424	3-hydroxyacyl-CoA dehydrogenase, C-terminal (1);Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);	0.716513	0.14286	N	0.329219	D	0.86896	0.6043	M	0.73962	2.25	0.52501	D	0.99995	P	0.40211	0.707	B	0.40864	0.342	T	0.82639	-0.0358	10	0.66056	D	0.02	-1.5427	5.1887	0.15197	0.3655:0.1381:0.4964:0.0	.	533	Q08426	ECHP_HUMAN	F	533;437	ENSP00000231887:S533F;ENSP00000387746:S437F	ENSP00000231887:S533F	S	-	2	0	EHHADH	186393282	1.000000	0.71417	0.227000	0.23927	0.556000	0.35491	2.910000	0.48766	0.272000	0.22027	-0.136000	0.14681	TCT		0.483	EHHADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345326.1			23	63	0	0	0	0	23	63				
HTT	3064	broad.mit.edu	37	4	3219628	3219628	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:3219628C>T	ENST00000355072.5	+	52	7336	c.7191C>T	c.(7189-7191)atC>atT	p.I2397I		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2397					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACATCATCATCAGCCTGGCCC	0.567																																						uc011bvq.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(7195-7197)ATC>ATT		huntingtin							104.0	115.0	111.0					4																	3219628		2081	4216	6297	SO:0001819	synonymous_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3219628C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7191C>T	4.37:g.3219628C>T							p.I2399I	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	53	7342	+		all_epithelial(65;0.18)	2397			Nuclear export signal (By similarity).		Q9UQB7	Silent	SNP	ENST00000355072.5	37	c.7197C>T	CCDS43206.1																																																																																				0.567	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		20	54	0	0	0	0	20	54				
CCDC158	339965	broad.mit.edu	37	4	77283442	77283442	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:77283442C>G	ENST00000388914.3	-	12	2009	c.1857G>C	c.(1855-1857)aaG>aaC	p.K619N		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	619										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCCCGGATCTTTGCATCTT	0.393																																						uc003hkb.3		NA																	0				skin(3)|ovary(2)|pancreas(1)	6						c.(1855-1857)AAG>AAC		coiled-coil domain containing 158							124.0	119.0	121.0					4																	77283442		1886	4117	6003	SO:0001583	missense	339965							g.chr4:77283442C>G	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1857G>C	4.37:g.77283442C>G	ENSP00000373566:p.Lys619Asn						p.K619N	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			12	2010	-			619			Potential.		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.1857G>C	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643399	0.67244	.	.	ENSG00000163749	ENST00000388914	T	0.38077	1.16	5.74	2.68	0.31781	.	0.219123	0.37304	N	0.002149	T	0.25531	0.0621	N	0.14661	0.345	0.80722	D	1	D	0.56035	0.974	P	0.51415	0.669	T	0.03221	-1.1059	10	0.34782	T	0.22	.	5.1237	0.14873	0.0:0.5294:0.0:0.4706	.	619	Q5M9N0	CD158_HUMAN	N	619	ENSP00000373566:K619N	ENSP00000373566:K619N	K	-	3	2	CCDC158	77502466	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.259000	0.32956	0.781000	0.33589	0.563000	0.77884	AAG		0.393	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		30	143	0	0	0	0	30	143				
NKX6-1	4825	broad.mit.edu	37	4	85414577	85414577	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:85414577G>A	ENST00000295886.4	-	3	1190	c.969C>T	c.(967-969)gaC>gaT	p.D323D	NKX6-1_ENST00000515820.2_Silent_p.D49D	NM_006168.2	NP_006159.2	P78426	NKX61_HUMAN	NK6 homeobox 1	323	Involved in DNA-binding. {ECO:0000250}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|cellular response to peptide hormone stimulus (GO:0071375)|detection of glucose (GO:0051594)|endocrine pancreas development (GO:0031018)|negative regulation of glial cell differentiation (GO:0045686)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|organ morphogenesis (GO:0009887)|pancreas development (GO:0031016)|positive regulation of glial cell differentiation (GO:0045687)|positive regulation of insulin secretion (GO:0032024)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of axon extension (GO:0030516)|regulation of neuron migration (GO:2001222)|regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification (GO:0021912)|regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification (GO:0021913)|response to drug (GO:0042493)|response to nicotine (GO:0035094)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	15		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.0013)		TGTAGTCGTCGTCCTCTTCCT	0.612																																						uc003hpa.1		NA																	0					0						c.(967-969)GAC>GAT		NK6 transcription factor related, locus 1							149.0	141.0	144.0					4																	85414577		2203	4300	6503	SO:0001819	synonymous_variant	4825				detection of glucose|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|type B pancreatic cell maturation	nucleus		g.chr4:85414577G>A	AH007313	CCDS3607.1	4q21.33	2012-03-09	2007-07-09	2002-10-04	ENSG00000163623	ENSG00000163623		"""Homeoboxes / ANTP class : NKL subclass"""	7839	protein-coding gene	gene with protein product		602563	"""NK homeobox (Drosophila), family 6, A"", ""NK6 transcription factor related, locus 1 (Drosophila)"""	NKX6A		9119408	Standard	NM_006168		Approved	Nkx6.1	uc003hpa.1	P78426	OTTHUMG00000130426	ENST00000295886.4:c.969C>T	4.37:g.85414577G>A							p.D323D	NM_006168	NP_006159	P78426	NKX61_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0013)	3	975	-		Hepatocellular(203;0.114)	323			Involved in DNA-binding (By similarity).			Silent	SNP	ENST00000295886.4	37	c.969C>T	CCDS3607.1																																																																																				0.612	NKX6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252814.2	NM_006168		29	80	0	0	0	0	29	80				
PDE5A	8654	broad.mit.edu	37	4	120481508	120481508	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr4:120481508G>C	ENST00000354960.3	-	7	1461	c.1142C>G	c.(1141-1143)tCt>tGt	p.S381C	PDE5A_ENST00000394439.1_Missense_Mutation_p.S329C|PDE5A_ENST00000264805.5_Missense_Mutation_p.S339C	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	381	GAF 2.			S -> F (in Ref. 9; AAP31235). {ECO:0000305}.	blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	AAACACACTAGAAAAAGAATC	0.323																																						uc003idh.2		NA																	0					0						c.(1141-1143)TCT>TGT		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						79.0	74.0	75.0					4																	120481508		2203	4297	6500	SO:0001583	missense	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120481508G>C	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1142C>G	4.37:g.120481508G>C	ENSP00000347046:p.Ser381Cys					PDE5A_uc003idf.2_Missense_Mutation_p.S339C|PDE5A_uc003idg.2_Missense_Mutation_p.S329C	p.S381C	NM_001083	NP_001074	O76074	PDE5A_HUMAN			7	1297	-			381	S -> F (in Ref. 9; AAP31235).		GAF 2.		A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	ENST00000354960.3	37	c.1142C>G	CCDS3713.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306558	0.81247	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	T;T;T	0.70282	-0.47;-0.47;-0.47	5.12	5.12	0.69794	GAF (2);	0.414749	0.28946	N	0.013629	D	0.85221	0.5647	M	0.83118	2.625	0.80722	D	1	D;D	0.76494	0.996;0.999	D;D	0.70016	0.967;0.919	D	0.87064	0.2155	10	0.59425	D	0.04	.	18.1454	0.89653	0.0:0.0:1.0:0.0	.	381;339	O76074;O76074-2	PDE5A_HUMAN;.	C	381;329;339	ENSP00000347046:S381C;ENSP00000377957:S329C;ENSP00000264805:S339C	ENSP00000264805:S339C	S	-	2	0	PDE5A	120700956	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.607000	0.90891	2.361000	0.80049	0.563000	0.77884	TCT		0.323	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1	NM_001083		7	42	0	0	0	0	7	42				
CDH18	1016	broad.mit.edu	37	5	19571716	19571716	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:19571716C>G	ENST00000507958.1	-	10	2215	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	CDH18_ENST00000382275.1_Missense_Mutation_p.D409H|CDH18_ENST00000506372.1_Missense_Mutation_p.D409H|CDH18_ENST00000511273.1_Missense_Mutation_p.D409H|CDH18_ENST00000502796.1_Missense_Mutation_p.D409H|CDH18_ENST00000274170.4_Missense_Mutation_p.D409H			Q13634	CAD18_HUMAN	cadherin 18, type 2	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTGTCAGGATCTTGTGCCAAA	0.393																																						uc003jgc.2		NA																	0				ovary(5)|large_intestine(1)|skin(1)	7						c.(1225-1227)GAT>CAT		cadherin 18, type 2 preproprotein							153.0	130.0	138.0					5																	19571716		2203	4300	6503	SO:0001583	missense	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19571716C>G	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1225G>C	5.37:g.19571716C>G	ENSP00000425093:p.Asp409His					CDH18_uc003jgd.2_Missense_Mutation_p.D409H|CDH18_uc011cnm.1_Missense_Mutation_p.D409H	p.D409H	NM_004934	NP_004925	Q13634	CAD18_HUMAN			7	1602	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		409			Extracellular (Potential).|Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Missense_Mutation	SNP	ENST00000507958.1	37	c.1225G>C	CCDS3889.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591619	0.86953	.	.	ENSG00000145526	ENST00000382275;ENST00000507958;ENST00000542864;ENST00000274170;ENST00000506372;ENST00000502796;ENST00000515257;ENST00000511273	T;T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;0.96;-0.91	5.17	5.17	0.71159	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.92922	0.7748	H	0.99719	4.725	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.96049	0.9030	9	.	.	.	.	17.5963	0.88013	0.0:1.0:0.0:0.0	.	409;409	B4DHG6;Q13634	.;CAD18_HUMAN	H	409;409;409;409;409;409;355;409	ENSP00000371710:D409H;ENSP00000425093:D409H;ENSP00000274170:D409H;ENSP00000424931:D409H;ENSP00000422138:D409H;ENSP00000427383:D355H;ENSP00000425854:D409H	.	D	-	1	0	CDH18	19607473	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.363000	0.79516	2.591000	0.87537	0.655000	0.94253	GAT		0.393	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		23	69	0	0	0	0	23	69				
C9	735	broad.mit.edu	37	5	39341263	39341263	+	Missense_Mutation	SNP	C	C	T	rs368001255		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:39341263C>T	ENST00000263408.4	-	4	556	c.461G>A	c.(460-462)cGa>cAa	p.R154Q	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	154	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GCCTGCTGTTCGTGCCAGCTC	0.458																																						uc003jlv.3		NA																	0					0						c.(460-462)CGA>CAA		complement component 9 precursor							108.0	108.0	108.0					5																	39341263		2203	4300	6503	SO:0001583	missense	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39341263C>T		CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.461G>A	5.37:g.39341263C>T	ENSP00000263408:p.Arg154Gln						p.R154Q	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		4	550	-	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	154			MACPF.			Missense_Mutation	SNP	ENST00000263408.4	37	c.461G>A	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469779	0.84533	.	.	ENSG00000113600	ENST00000263408	T	0.30981	1.51	5.52	4.64	0.57946	Membrane attack complex component/perforin (MACPF) domain (1);	0.119263	0.52532	D	0.000066	T	0.56978	0.2022	M	0.84683	2.71	0.32810	D	0.501259	D	0.89917	1.0	D	0.67725	0.953	T	0.70153	-0.4950	10	0.32370	T	0.25	-10.5335	14.8501	0.70289	0.1446:0.8554:0.0:0.0	.	154	P02748	CO9_HUMAN	Q	154	ENSP00000263408:R154Q	ENSP00000263408:R154Q	R	-	2	0	C9	39377020	0.988000	0.35896	0.504000	0.27639	0.983000	0.72400	2.972000	0.49256	1.301000	0.44836	0.563000	0.77884	CGA		0.458	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			40	90	0	0	0	0	40	90				
C6	729	broad.mit.edu	37	5	41158799	41158799	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:41158799G>A	ENST00000263413.3	-	13	2209	c.1945C>T	c.(1945-1947)Cct>Tct	p.P649S	C6_ENST00000475349.1_5'Flank|C6_ENST00000337836.5_Missense_Mutation_p.P649S	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	649	C5b-binding domain.|CCP 1.|Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTTCTGGAGGAACTGGCTGA	0.398																																						uc003jmk.2		NA																	0				ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1945-1947)CCT>TCT		complement component 6 precursor							95.0	100.0	99.0					5																	41158799		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41158799G>A	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1945C>T	5.37:g.41158799G>A	ENSP00000263413:p.Pro649Ser					C6_uc003jml.1_Missense_Mutation_p.P649S	p.P649S	NM_000065	NP_000056	P13671	CO6_HUMAN			13	2155	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	649			Sushi 1.|C5b-binding domain.			Missense_Mutation	SNP	ENST00000263413.3	37	c.1945C>T	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645578	0.29246	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	T;T	0.63913	-0.07;-0.07	6.07	5.2	0.72013	Complement control module (2);Sushi/SCR/CCP (3);	0.308946	0.34777	N	0.003696	T	0.53883	0.1824	L	0.52573	1.65	0.33699	D	0.614317	B	0.18013	0.025	B	0.19666	0.026	T	0.59204	-0.7498	10	0.17369	T	0.5	-6.0818	11.7564	0.51878	0.0662:0.1235:0.8103:0.0	.	649	P13671	CO6_HUMAN	S	649	ENSP00000338861:P649S;ENSP00000263413:P649S	ENSP00000263413:P649S	P	-	1	0	C6	41194556	1.000000	0.71417	0.904000	0.35570	0.976000	0.68499	3.776000	0.55356	1.582000	0.49881	0.650000	0.86243	CCT		0.398	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			10	64	0	0	0	0	10	64				
IL6ST	3572	broad.mit.edu	37	5	55253084	55253084	+	Missense_Mutation	SNP	C	C	G	rs577060675		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:55253084C>G	ENST00000381298.2	-	9	1321	c.1009G>C	c.(1009-1011)Gat>Cat	p.D337H	IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000381294.3_Missense_Mutation_p.D337H|IL6ST_ENST00000336909.5_Missense_Mutation_p.D337H|IL6ST_ENST00000502326.3_Missense_Mutation_p.D337H|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381287.4_Intron	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	337	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGGATGGATCTATTTTATAC	0.279			O		hepatocellular ca																																	uc003jqq.2		NA		Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				large_intestine(1)|ovary(1)	2						c.(1009-1011)GAT>CAT		interleukin 6 signal transducer isoform 1							84.0	92.0	89.0					5																	55253084		2203	4299	6502	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55253084C>G	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1009G>C	5.37:g.55253084C>G	ENSP00000370698:p.Asp337His					IL6ST_uc010iwb.2_Missense_Mutation_p.D337H|IL6ST_uc010iwc.2_Intron|IL6ST_uc010iwd.2_Intron|IL6ST_uc011cqk.1_Missense_Mutation_p.D48H|IL6ST_uc003jqr.2_Intron	p.D337H	NM_002184	NP_002175	P40189	IL6RB_HUMAN			9	1264	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	337			Extracellular (Potential).|Fibronectin type-III 3.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.1009G>C	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.587842	0.28268	.	.	ENSG00000134352	ENST00000381298;ENST00000336909;ENST00000381294	T;T;T	0.46063	0.88;0.88;0.88	4.92	2.85	0.33270	Fibronectin, type III (3);	2.076500	0.02055	N	0.050329	T	0.24699	0.0599	N	0.02802	-0.49	0.39801	D	0.972562	B;B;B	0.10296	0.0;0.003;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.09292	-1.0681	10	0.44086	T	0.13	.	9.3897	0.38365	0.0:0.7864:0.0:0.2136	.	337;337;337	Q17RA0;Q5FC04;P40189	.;.;IL6RB_HUMAN	H	337	ENSP00000370698:D337H;ENSP00000338799:D337H;ENSP00000370694:D337H	ENSP00000338799:D337H	D	-	1	0	IL6ST	55288841	0.184000	0.23200	0.937000	0.37676	0.989000	0.77384	1.704000	0.37857	0.981000	0.38548	0.585000	0.79938	GAT		0.279	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		13	112	0	0	0	0	13	112				
RASGRF2	5924	broad.mit.edu	37	5	80408598	80408598	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:80408598C>A	ENST00000265080.4	+	14	2075	c.2008C>A	c.(2008-2010)Cgt>Agt	p.R670S	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	670	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R670C(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		GCACACCTATCGTATTTTCAC	0.507																																						uc003kha.1		NA																	1	Substitution - Missense(1)		skin(1)	breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1)	12						c.(2008-2010)CGT>AGT		Ras protein-specific guanine							186.0	179.0	181.0					5																	80408598		2203	4300	6503	SO:0001583	missense	5924				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr5:80408598C>A	AF023130	CCDS4052.1	5q13	2013-01-10			ENSG00000113319	ENSG00000113319		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9876	protein-coding gene	gene with protein product		606614					Standard	NM_006909		Approved	GRF2, Ras-GRF2	uc003kha.2	O14827	OTTHUMG00000119015	ENST00000265080.4:c.2008C>A	5.37:g.80408598C>A	ENSP00000265080:p.Arg670Ser					RASGRF2_uc011ctn.1_RNA	p.R670S	NM_006909	NP_008840	O14827	RGRF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)	14	2008	+		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)	670			N-terminal Ras-GEF.		B9EG89|Q9UK56	Missense_Mutation	SNP	ENST00000265080.4	37	c.2008C>A	CCDS4052.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.584297	0.86748	.	.	ENSG00000113319	ENST00000265080	T	0.40225	1.04	5.79	5.79	0.91817	Ras guanine nucleotide exchange factor, domain (1);Ras-like guanine nucleotide exchange factor, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.69142	0.3078	M	0.80183	2.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.71810	-0.4480	10	0.87932	D	0	.	19.684	0.95974	0.0:1.0:0.0:0.0	.	670	O14827	RGRF2_HUMAN	S	670	ENSP00000265080:R670S	ENSP00000265080:R670S	R	+	1	0	RASGRF2	80444354	1.000000	0.71417	0.977000	0.42913	0.862000	0.49288	4.873000	0.63057	2.752000	0.94435	0.558000	0.71614	CGT		0.507	RASGRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239215.2	NM_006909		4	200	1	0	0.000602214	0.000620402	4	200				
PCDHGA7	56108	broad.mit.edu	37	5	140764430	140764430	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:140764430C>T	ENST00000518325.1	+	1	1964	c.1964C>T	c.(1963-1965)tCa>tTa	p.S655L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	655	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTCTGTCAGCCACCGTC	0.652																																						uc003lka.1		NA																	0					0						c.(1963-1965)TCA>TTA		protocadherin gamma subfamily A, 7 isoform 1							31.0	39.0	37.0					5																	140764430		2189	4296	6485	SO:0001583	missense	56108				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140764430C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.1964C>T	5.37:g.140764430C>T	ENSP00000430024:p.Ser655Leu					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003ljz.1_Missense_Mutation_p.S655L	p.S655L	NM_018920	NP_061743	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1964	+			655			Extracellular (Potential).|Cadherin 6.		B2RN87|Q9Y5D0	Missense_Mutation	SNP	ENST00000518325.1	37	c.1964C>T	CCDS54927.1	.	.	.	.	.	.	.	.	.	.	.	23.4	4.417396	0.83449	.	.	ENSG00000253537	ENST00000518325	T	0.55588	0.51	5.01	5.01	0.66863	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.76821	0.4041	M	0.92784	3.345	0.40564	D	0.981236	P;P	0.51933	0.949;0.914	P;P	0.58130	0.833;0.799	D	0.84115	0.0403	9	0.87932	D	0	.	18.3303	0.90267	0.0:1.0:0.0:0.0	.	655;655	Q9Y5G6;Q9Y5G6-2	PCDG7_HUMAN;.	L	655	ENSP00000430024:S655L	ENSP00000430024:S655L	S	+	2	0	PCDHGA7	140744614	1.000000	0.71417	0.955000	0.39395	0.838000	0.47535	5.758000	0.68776	2.484000	0.83849	0.655000	0.94253	TCA		0.652	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		12	29	0	0	0	0	12	29				
FAT2	2196	broad.mit.edu	37	5	150947251	150947251	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:150947251C>G	ENST00000261800.5	-	1	1254	c.1242G>C	c.(1240-1242)ttG>ttC	p.L414F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	414	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTGGTGATCAACCCAGTTC	0.512																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(1240-1242)TTG>TTC		FAT tumor suppressor 2 precursor							111.0	105.0	107.0					5																	150947251		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947251C>G	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1242G>C	5.37:g.150947251C>G	ENSP00000261800:p.Leu414Phe					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.L414F	p.L414F	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1255	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	414			Extracellular (Potential).|Cadherin 3.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1242G>C	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.355885	0.41700	.	.	ENSG00000086570	ENST00000261800	T	0.61742	0.08	5.59	1.76	0.24704	Cadherin (3);Cadherin-like (1);	0.000000	0.50627	D	0.000116	T	0.56352	0.1979	M	0.87900	2.915	0.38879	D	0.956872	P	0.43477	0.808	B	0.38458	0.274	T	0.56390	-0.7987	10	0.39692	T	0.17	.	7.9187	0.29833	0.1085:0.3291:0.4948:0.0676	.	414	Q9NYQ8	FAT2_HUMAN	F	414	ENSP00000261800:L414F	ENSP00000261800:L414F	L	-	3	2	FAT2	150927444	0.081000	0.21417	0.903000	0.35520	0.919000	0.55068	-0.537000	0.06128	0.032000	0.15435	0.561000	0.74099	TTG		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		20	106	0	0	0	0	20	106				
CPEB4	80315	broad.mit.edu	37	5	173359491	173359491	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:173359491C>T	ENST00000265085.5	+	3	2700	c.1246C>T	c.(1246-1248)Ctg>Ttg	p.L416L	CPEB4_ENST00000519835.1_Intron|CPEB4_ENST00000520867.1_Intron|CPEB4_ENST00000522336.1_Silent_p.L34L|CPEB4_ENST00000517880.1_Intron|CPEB4_ENST00000519467.1_Intron|CPEB4_ENST00000334035.5_Intron	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	416					cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CGATAGCTCTCTGCTTATTAA	0.353																																						uc003mcs.3		NA																	0					0						c.(1246-1248)CTG>TTG		cytoplasmic polyadenylation element binding							127.0	119.0	122.0					5																	173359491		2203	4300	6503	SO:0001819	synonymous_variant	80315						nucleotide binding|RNA binding	g.chr5:173359491C>T	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1246C>T	5.37:g.173359491C>T						CPEB4_uc010jju.1_Intron|CPEB4_uc010jjv.2_Intron|CPEB4_uc011dfg.1_Intron|CPEB4_uc003mct.3_Silent_p.L34L|CPEB4_uc003mcu.3_Intron	p.L416L	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		3	2652	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	416					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	ENST00000265085.5	37	c.1246C>T	CCDS4390.1																																																																																				0.353	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		20	63	0	0	0	0	20	63				
SQSTM1	8878	broad.mit.edu	37	5	179260066	179260066	+	Silent	SNP	G	G	A	rs200889080	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:179260066G>A	ENST00000389805.4	+	6	967	c.789G>A	c.(787-789)ggG>ggA	p.G263G	SQSTM1_ENST00000510187.1_Silent_p.G263G|SQSTM1_ENST00000376929.3_Silent_p.G179G|SQSTM1_ENST00000402874.3_Silent_p.G179G|SQSTM1_ENST00000360718.5_Silent_p.G179G	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	263					apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCACGGAGGGAAAAGAAGCC	0.587													G|||	3	0.000599042	0.0	0.0	5008	,	,		17897	0.003		0.0	False		,,,				2504	0.0					uc003mkw.3		NA																SQSTM1/ALK(2)	0				haematopoietic_and_lymphoid_tissue(2)|ovary(1)	3						c.(787-789)GGG>GGA		sequestosome 1 isoform 1							66.0	69.0	68.0					5																	179260066		2203	4300	6503	SO:0001819	synonymous_variant	8878	Paget_Disease_of_Bone			anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179260066G>A	U46751	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011			11280	protein-coding gene	gene with protein product		601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	Standard	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	Q13501	OTTHUMG00000150643	ENST00000389805.4:c.789G>A	5.37:g.179260066G>A						SQSTM1_uc011dgr.1_Silent_p.G179G|SQSTM1_uc011dgs.1_Silent_p.G179G|SQSTM1_uc003mkv.3_Silent_p.G263G|SQSTM1_uc003mkx.2_Silent_p.G179G	p.G263G	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		6	884	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	263					A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Silent	SNP	ENST00000389805.4	37	c.789G>A	CCDS34317.1																																																																																				0.587	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1			5	76	0	0	0	0	5	76				
PAK1IP1	55003	broad.mit.edu	37	6	10707720	10707720	+	Silent	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:10707720C>A	ENST00000379568.3	+	8	1104	c.813C>A	c.(811-813)atC>atA	p.I271I		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	271					cell proliferation (GO:0008283)|negative regulation of signal transduction (GO:0009968)|palate development (GO:0060021)	nucleus (GO:0005634)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ATGGTTTCATCAAAATGTGGA	0.343																																						uc003mzg.2		NA																	0					0						c.(811-813)ATC>ATA		PAK1 interacting protein 1							220.0	199.0	206.0					6																	10707720		2203	4300	6503	SO:0001819	synonymous_variant	55003				negative regulation of signal transduction	nucleolus|plasma membrane		g.chr6:10707720C>A	AF283303	CCDS34339.1	6p24.1	2013-05-21			ENSG00000111845	ENSG00000111845		"""WD repeat domain containing"""	20882	protein-coding gene	gene with protein product		607811				11371639	Standard	XM_005249204		Approved	FLJ20624, hPIP1, PIP1, bA421M1.5, MAK11, WDR84	uc003mzg.3	Q9NWT1	OTTHUMG00000014245	ENST00000379568.3:c.813C>A	6.37:g.10707720C>A							p.I271I	NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN			8	844	+	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)	271			WD 5.		Q5T4J2|Q96QJ8|Q96T87	Silent	SNP	ENST00000379568.3	37	c.813C>A	CCDS34339.1																																																																																				0.343	PAK1IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039835.1	NM_017906		31	124	1	0	2.81e-11	3.03e-11	31	124				
NEDD9	4739	broad.mit.edu	37	6	11213915	11213915	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:11213915C>T	ENST00000379446.5	-	2	224	c.58G>A	c.(58-60)Gag>Aag	p.E20K	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000379433.5_Missense_Mutation_p.E20K|NEDD9_ENST00000504387.1_Missense_Mutation_p.E20K	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	20	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCCAGTTCCTCGGCACACTCT	0.522																																						uc003mzv.2		NA																	0					0						c.(58-60)GAG>AAG		neural precursor cell expressed, developmentally							108.0	96.0	100.0					6																	11213915		2203	4300	6503	SO:0001583	missense	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11213915C>T	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.58G>A	6.37:g.11213915C>T	ENSP00000368759:p.Glu20Lys					NEDD9_uc010joz.2_Missense_Mutation_p.E20K|NEDD9_uc003mzw.3_5'UTR|NEDD9_uc003mzx.2_Missense_Mutation_p.E20K	p.E20K	NM_006403	NP_006394	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		2	225	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	20			SH3.		A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	ENST00000379446.5	37	c.58G>A	CCDS4520.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652529	0.88056	.	.	ENSG00000111859	ENST00000379446;ENST00000504387;ENST00000379433;ENST00000513989;ENST00000397378	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;1.9	6.17	6.17	0.99709	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.53997	0.1831	L	0.31752	0.955	0.80722	D	1	D;D;D	0.89917	0.964;1.0;1.0	P;D;D	0.81914	0.69;0.995;0.993	T	0.53795	-0.8388	10	0.59425	D	0.04	-42.1308	20.8794	0.99867	0.0:1.0:0.0:0.0	.	20;20;20	G5E9Y9;Q5XKI0;Q14511	.;.;CASL_HUMAN	K	20;20;20;14;20	ENSP00000368759:E20K;ENSP00000422871:E20K;ENSP00000368745:E20K;ENSP00000421282:E14K;ENSP00000380534:E20K	ENSP00000368745:E20K	E	-	1	0	NEDD9	11321901	1.000000	0.71417	0.994000	0.49952	0.990000	0.78478	7.461000	0.80834	2.941000	0.99782	0.655000	0.94253	GAG		0.522	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		13	66	0	0	0	0	13	66				
HIST1H3I	8354	broad.mit.edu	37	6	27839692	27839692	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:27839692C>G	ENST00000328488.2	-	1	407	c.402G>C	c.(400-402)gaG>gaC	p.E134D		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	134					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTTATGCCCTCTCCCCTCGGA	0.507																																						uc003njy.2		NA																	0				ovary(1)	1						c.(400-402)GAG>GAC		histone cluster 1, H3i							145.0	162.0	156.0					6																	27839692		2203	4300	6503	SO:0001583	missense	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839692C>G	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.402G>C	6.37:g.27839692C>G	ENSP00000329554:p.Glu134Asp						p.E134D	NM_003533	NP_003524	P68431	H31_HUMAN			1	408	-			134					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	c.402G>C	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	C	6.970	0.548958	0.13312	.	.	ENSG00000182572	ENST00000328488	T	0.48836	0.8	4.12	-0.709	0.11237	.	.	.	.	.	T	0.30070	0.0753	.	.	.	0.24350	N	0.994925	.	.	.	.	.	.	T	0.37103	-0.9720	6	0.87932	D	0	.	9.7043	0.40207	0.0:0.6398:0.0:0.3602	.	.	.	.	D	134	ENSP00000329554:E134D	ENSP00000329554:E134D	E	-	3	2	HIST1H3I	27947671	0.996000	0.38824	0.253000	0.24343	0.523000	0.34469	0.522000	0.22909	-0.165000	0.10908	-0.806000	0.03193	GAG		0.507	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		23	233	0	0	0	0	23	233				
HIST1H3I	8354	broad.mit.edu	37	6	27839802	27839802	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:27839802C>T	ENST00000328488.2	-	1	297	c.292G>A	c.(292-294)Gag>Aag	p.E98K		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	98					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						AGGTAGGCCTCGCAAGCCTCC	0.572																																						uc003njy.2		NA																	0				ovary(1)	1						c.(292-294)GAG>AAG		histone cluster 1, H3i							87.0	93.0	91.0					6																	27839802		2203	4300	6503	SO:0001583	missense	8354				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27839802C>T	X83550	CCDS4636.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000182572	ENSG00000275379		"""Histones / Replication-dependent"""	4771	protein-coding gene	gene with protein product		602814	"""H3 histone family, member F"", ""histone 1, H3i"""	H3FF		9031620, 9439656, 12408966	Standard	NM_003533		Approved	H3/f, H3.f	uc003njy.3	P68431	OTTHUMG00000016184	ENST00000328488.2:c.292G>A	6.37:g.27839802C>T	ENSP00000329554:p.Glu98Lys						p.E98K	NM_003533	NP_003524	P68431	H31_HUMAN			1	298	-			98					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	ENST00000328488.2	37	c.292G>A	CCDS4636.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266870	0.80469	.	.	ENSG00000182572	ENST00000328488	T	0.77489	-1.1	4.12	4.12	0.48240	.	.	.	.	.	D	0.83599	0.5289	.	.	.	0.45025	D	0.998046	.	.	.	.	.	.	D	0.85757	0.1347	6	0.87932	D	0	.	16.6345	0.85043	0.0:1.0:0.0:0.0	.	.	.	.	K	98	ENSP00000329554:E98K	ENSP00000329554:E98K	E	-	1	0	HIST1H3I	27947781	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	7.370000	0.79589	2.580000	0.87095	0.650000	0.86243	GAG		0.572	HIST1H3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043452.1	NM_003533		26	105	0	0	0	0	26	105				
ATP6V1G2	534	broad.mit.edu	37	6	31516144	31516144	+	5'Flank	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:31516144G>A	ENST00000303892.5	-	0	0				NFKBIL1_ENST00000376148.4_Missense_Mutation_p.G88R|ATP6V1G2_ENST00000483251.1_5'Flank|NFKBIL1_ENST00000376145.4_Missense_Mutation_p.G88R|ATP6V1G2-DDX39B_ENST00000376185.1_5'Flank|ATP6V1G2_ENST00000483170.1_5'Flank|ATP6V1G2-DDX39B_ENST00000475917.1_5'Flank|ATP6V1G2_ENST00000376151.4_5'Flank	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2						cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						GCTTCGGCTCGGGGCTGACCC	0.697																																						uc003nub.2		NA																	0					0						c.(262-264)GGG>AGG		nuclear factor of kappa light polypeptide gene							18.0	17.0	17.0					6																	31516144		1506	2705	4211	SO:0001631	upstream_gene_variant	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31516144G>A	Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"""ATPases / V-type"""	862	protein-coding gene	gene with protein product		606853	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"""	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618		6.37:g.31516144G>A	Exception_encountered					BAT1_uc003ntv.2_5'Flank|ATP6V1G2_uc003ntz.2_5'Flank|ATP6V1G2_uc003nua.2_5'Flank|NFKBIL1_uc011dnr.1_Missense_Mutation_p.G65R|NFKBIL1_uc011dns.1_Missense_Mutation_p.G65R|NFKBIL1_uc011dnt.1_RNA|NFKBIL1_uc003nuc.2_Missense_Mutation_p.G88R	p.G88R	NM_005007	NP_004998	Q9UBC1	IKBL1_HUMAN			2	381	+			88			ANK 1.		B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	Missense_Mutation	SNP	ENST00000303892.5	37	c.262G>A	CCDS4698.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	38|38	6.745764|6.745764	0.97809|0.97809	.|.	.|.	ENSG00000204498|ENSG00000213760	ENST00000376146;ENST00000542852;ENST00000376148;ENST00000376145|ENST00000415099	T;T;T|.	0.78707|.	-1.2;-1.2;-1.2|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.55194|.	0.1905|.	M|M	0.77406|0.77406	2.37|2.37	0.43673|0.43673	D|D	0.996102|0.996102	D;D;P|.	0.89917|.	0.987;1.0;0.956|.	P;D;P|.	0.64595|.	0.875;0.927;0.715|.	T|.	0.62353|.	-0.6872|.	9|.	.|0.02654	.|T	.|1	-2.3578|-2.3578	14.7211|14.7211	0.69308|0.69308	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	65;88;88|.	Q5STV6;Q5STV4;Q9UBC1|.	.;.;IKBL1_HUMAN|.	R|X	65;65;88;88|21	ENSP00000365316:G65R;ENSP00000365318:G88R;ENSP00000365315:G88R|.	.|ENSP00000390148:R21X	G|R	+|-	1|1	0|2	NFKBIL1|ATP6V1G2	31624123|31624123	1.000000|1.000000	0.71417|0.71417	0.820000|0.820000	0.32676|0.32676	0.923000|0.923000	0.55619|0.55619	5.944000|5.944000	0.70219|0.70219	2.534000|2.534000	0.85438|0.85438	0.651000|0.651000	0.88453|0.88453	GGG|CGA		0.697	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076399.3	NM_130463		5	13	0	0	0	0	5	13				
VPS52	6293	broad.mit.edu	37	6	33237329	33237329	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:33237329G>C	ENST00000445902.2	-	5	528	c.310C>G	c.(310-312)Caa>Gaa	p.Q104E	VPS52_ENST00000482399.1_3'UTR|RPS18_ENST00000474973.1_5'Flank|VPS52_ENST00000478934.1_5'UTR|RPS18_ENST00000439602.2_5'Flank|VPS52_ENST00000436044.2_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	104					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TCACTCTCTTGAATATCTGAT	0.433																																						uc003odm.1		NA																	0				ovary(4)|skin(1)	5						c.(310-312)CAA>GAA		vacuolar protein sorting 52							114.0	108.0	110.0					6																	33237329		1511	2709	4220	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33237329G>C	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.310C>G	6.37:g.33237329G>C	ENSP00000409952:p.Gln104Glu					VPS52_uc003odn.1_5'UTR|VPS52_uc003odo.1_Missense_Mutation_p.Q29E|VPS52_uc011dqy.1_5'UTR|VPS52_uc011dqz.1_5'UTR|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	p.Q104E	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			5	520	-			104					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.310C>G	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	G	5.230	0.227937	0.09916	.	.	ENSG00000223501	ENST00000445902;ENST00000418054	.	.	.	5.19	5.19	0.71726	.	0.053963	0.64402	D	0.000001	T	0.18882	0.0453	N	0.10916	0.065	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.15484	0.013;0.013	T	0.14448	-1.0472	9	0.05525	T	0.97	-12.3821	16.2534	0.82498	0.0:0.0:1.0:0.0	.	82;104	B4DS44;Q8N1B4	.;VPS52_HUMAN	E	104;82	.	ENSP00000414785:Q82E	Q	-	1	0	VPS52	33345307	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.638000	0.46562	2.719000	0.93026	0.573000	0.79308	CAA		0.433	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		27	90	0	0	0	0	27	90				
CUTA	51596	broad.mit.edu	37	6	33384884	33384884	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:33384884T>C	ENST00000488034.1	-	4	474	c.353A>G	c.(352-354)gAg>gGg	p.E118G	CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000374500.5_Missense_Mutation_p.E137G|SYNGAP1_ENST00000293748.5_5'Flank|CUTA_ENST00000494751.1_Missense_Mutation_p.E95G|CUTA_ENST00000488478.1_Missense_Mutation_p.E118G|CUTA_ENST00000374496.3_Missense_Mutation_p.E95G|CUTA_ENST00000440279.3_Missense_Mutation_p.E95G|CUTA_ENST00000607266.1_Missense_Mutation_p.E95G	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	118					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						CATCAGCACCTCACTGTCTTC	0.507																																						uc003oej.1		NA																	0					0						c.(352-354)GAG>GGG		cutA divalent cation tolerance homolog isoform							87.0	84.0	85.0					6																	33384884		2203	4300	6503	SO:0001583	missense	51596				protein localization|response to metal ion	membrane	enzyme binding	g.chr6:33384884T>C	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 82"", ""acetylcholinesterase-associated protein"""	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.353A>G	6.37:g.33384884T>C	ENSP00000417544:p.Glu118Gly					CUTA_uc003oek.1_Missense_Mutation_p.E95G|CUTA_uc003oel.1_Missense_Mutation_p.E95G|CUTA_uc003oem.1_Missense_Mutation_p.E95G|CUTA_uc003oen.1_Missense_Mutation_p.E137G|SYNGAP1_uc003oeo.1_5'Flank|SYNGAP1_uc011dri.1_5'Flank|SYNGAP1_uc010juy.2_5'Flank	p.E118G	NM_001014840	NP_001014840	O60888	CUTA_HUMAN			4	641	-			118					A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Missense_Mutation	SNP	ENST00000488034.1	37	c.353A>G	CCDS34433.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.969753	0.74246	.	.	ENSG00000112514	ENST00000374500;ENST00000440279;ENST00000488034;ENST00000494751;ENST00000488478;ENST00000374496	.	.	.	4.33	4.33	0.51752	Nitrogen regulatory PII-like, alpha/beta (1);	0.000000	0.85682	D	0.000000	D	0.86636	0.5980	H	0.99404	4.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.90051	0.4149	9	0.87932	D	0	-1.6754	9.8092	0.40812	0.0:0.0:0.0:1.0	.	137;118	O60888-2;O60888	.;CUTA_HUMAN	G	137;95;118;95;118;95	.	ENSP00000363620:E95G	E	-	2	0	CUTA	33492862	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.895000	0.69814	1.822000	0.53115	0.402000	0.26972	GAG		0.507	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	NM_015921		22	70	0	0	0	0	22	70				
C6orf106	64771	broad.mit.edu	37	6	34614570	34614570	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:34614570C>G	ENST00000374023.3	-	3	562	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	C6orf106_ENST00000374026.3_Intron|C6orf106_ENST00000374021.1_Missense_Mutation_p.E33Q	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	107										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						GGCCAGGCCTCTGCCCCTGAG	0.458																																						uc003ojr.2		NA																	0				skin(2)|ovary(1)	3						c.(319-321)GAG>CAG		chromosome 6 open reading frame 106 isoform a							96.0	99.0	98.0					6																	34614570		2203	4300	6503	SO:0001583	missense	64771							g.chr6:34614570C>G	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.319G>C	6.37:g.34614570C>G	ENSP00000363135:p.Glu107Gln					C6orf106_uc003ojs.2_Intron	p.E107Q	NM_024294	NP_077270	Q9H6K1	CF106_HUMAN			3	564	-			107					B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Missense_Mutation	SNP	ENST00000374023.3	37	c.319G>C	CCDS4796.1	.	.	.	.	.	.	.	.	.	.	C	15.13	2.741616	0.49151	.	.	ENSG00000196821	ENST00000374023;ENST00000374021	.	.	.	5.35	4.49	0.54785	.	0.061443	0.64402	D	0.000006	T	0.36771	0.0979	L	0.46819	1.47	0.80722	D	1	B	0.27351	0.176	B	0.24541	0.054	T	0.26883	-1.0090	9	0.19590	T	0.45	-11.3816	14.2202	0.65820	0.0:0.9281:0.0:0.0719	.	107	Q9H6K1	CF106_HUMAN	Q	107;33	.	ENSP00000363133:E33Q	E	-	1	0	C6orf106	34722548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	1.255000	0.44051	0.563000	0.77884	GAG		0.458	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758		44	148	0	0	0	0	44	148				
LHFPL5	222662	broad.mit.edu	37	6	35773543	35773543	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:35773543C>T	ENST00000373853.1	+	1	474	c.96C>T	c.(94-96)ctC>ctT	p.L32L	LHFPL5_ENST00000360215.1_Silent_p.L32L			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	32					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						GGGGTACCCTCACCATCTGCT	0.587																																						uc003olg.1		NA																	0				skin(1)	1						c.(94-96)CTC>CTT		lipoma HMGIC fusion partner-like 5							220.0	191.0	201.0					6																	35773543		2203	4300	6503	SO:0001819	synonymous_variant	222662					integral to membrane		g.chr6:35773543C>T	BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.96C>T	6.37:g.35773543C>T							p.L32L	NM_182548	NP_872354	Q8TAF8	TMHS_HUMAN			1	473	+			32			Helical; (Potential).		B3KX66	Silent	SNP	ENST00000373853.1	37	c.96C>T	CCDS4812.1																																																																																				0.587	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040323.1	NM_182548		36	103	0	0	0	0	36	103				
MEP1A	4224	broad.mit.edu	37	6	46793145	46793145	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:46793145G>A	ENST00000230588.4	+	8	702	c.693G>A	c.(691-693)aaG>aaA	p.K231K		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	231	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCACAGCCAAGATCCCTGAGT	0.428																																						uc010jzh.1		NA																	0				pancreas(2)|ovary(1)	3						c.(691-693)AAG>AAA		meprin A alpha precursor							166.0	144.0	152.0					6																	46793145		2203	4300	6503	SO:0001819	synonymous_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46793145G>A		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.693G>A	6.37:g.46793145G>A						MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Silent_p.K259K|MEP1A_uc011dwi.1_Silent_p.K131K	p.K231K	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Lung(136;0.192)		8	735	+			231			Extracellular (Potential).|Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	c.693G>A	CCDS4918.1																																																																																				0.428	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		23	59	0	0	0	0	23	59				
GPR116	221395	broad.mit.edu	37	6	46826148	46826148	+	Silent	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:46826148G>C	ENST00000283296.7	-	17	3780	c.3492C>G	c.(3490-3492)ctC>ctG	p.L1164L	GPR116_ENST00000362015.4_Silent_p.L1164L|GPR116_ENST00000456426.2_Silent_p.L1022L|GPR116_ENST00000265417.7_Silent_p.L1164L|GPR116_ENST00000545669.1_Silent_p.L593L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1164					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CCTCCCAGTTGAGCCAACAGA	0.552																																					NSCLC(59;410 1274 8751 36715 50546)	uc003oyo.3		NA																	0				central_nervous_system(1)|skin(1)	2						c.(3490-3492)CTC>CTG		G-protein coupled receptor 116 precursor							43.0	40.0	41.0					6																	46826148		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46826148G>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.3492C>G	6.37:g.46826148G>C						GPR116_uc011dwj.1_Silent_p.L719L|GPR116_uc011dwk.1_Silent_p.L593L|GPR116_uc003oyp.3_Silent_p.L1022L|GPR116_uc003oyq.3_Silent_p.L1164L|GPR116_uc010jzi.1_Silent_p.L836L	p.L1164L	NM_001098518	NP_001091988	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		17	3781	-			1164			Extracellular (Potential).		O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.3492C>G	CCDS4919.1																																																																																				0.552	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		18	39	0	0	0	0	18	39				
REV3L	5980	broad.mit.edu	37	6	111697184	111697184	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:111697184G>A	ENST00000358835.3	-	14	2828	c.2374C>T	c.(2374-2376)Caa>Taa	p.Q792*	REV3L_ENST00000435970.1_Nonsense_Mutation_p.Q714*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q792*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q792*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	792					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGTGCTGCTTGCTGGCTGAGG	0.358								DNA polymerases (catalytic subunits)																														uc003puy.3		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(2374-2376)CAA>TAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							136.0	142.0	140.0					6																	111697184		2203	4300	6503	SO:0001587	stop_gained	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111697184G>A	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.2374C>T	6.37:g.111697184G>A	ENSP00000351697:p.Gln792*					REV3L_uc003pux.3_Nonsense_Mutation_p.Q714*|REV3L_uc003puz.3_Nonsense_Mutation_p.Q714*	p.Q792*	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	13	2697	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	792					O43214|Q5TC33	Nonsense_Mutation	SNP	ENST00000358835.3	37	c.2374C>T	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	G	45	11.900109	0.99615	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.8686	19.2403	0.93879	0.0:0.0:1.0:0.0	.	.	.	.	X	792;792;792;714	.	ENSP00000351697:Q792X	Q	-	1	0	REV3L	111803877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.295000	0.96095	2.549000	0.85964	0.563000	0.77884	CAA		0.358	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		26	125	0	0	0	0	26	125				
RFPL4B	442247	broad.mit.edu	37	6	112671180	112671180	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:112671180C>G	ENST00000441065.2	+	3	582	c.270C>G	c.(268-270)ctC>ctG	p.L90L	RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	90	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.L90L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		GGGAGGAGCTCCGGCATTTTC	0.527																																						uc003pvx.1		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(268-270)CTC>CTG		ret finger protein-like 4B							94.0	84.0	87.0					6																	112671180		2203	4300	6503	SO:0001819	synonymous_variant	442247						zinc ion binding	g.chr6:112671180C>G	AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.270C>G	6.37:g.112671180C>G							p.L90L	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)	3	582	+		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)	90			B30.2/SPRY.		A2RU91	Silent	SNP	ENST00000441065.2	37	c.270C>G	CCDS34515.1																																																																																				0.527	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041885.2	NM_001013734		4	55	0	0	0	0	4	55				
ZUFSP	221302	broad.mit.edu	37	6	116987891	116987891	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:116987891T>A	ENST00000368576.3	-	2	708	c.465A>T	c.(463-465)gaA>gaT	p.E155D	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Missense_Mutation_p.E155D	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	155							metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AGAATGGACATTCAGGAGGAC	0.373																																						uc003pxf.1		NA																	0				skin(1)	1						c.(463-465)GAA>GAT		zinc finger with UFM1-specific peptidase domain							123.0	112.0	116.0					6																	116987891		2203	4300	6503	SO:0001583	missense	221302					intracellular	zinc ion binding	g.chr6:116987891T>A	AK054582	CCDS5110.1	6q22.31	2013-01-28	2008-03-25	2008-03-25	ENSG00000153975	ENSG00000153975		"""Zinc fingers, C2H2-type"""	21224	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 113"""	C6orf113			Standard	NM_145062		Approved	dJ412I7.3	uc003pxf.2	Q96AP4	OTTHUMG00000015445	ENST00000368576.3:c.465A>T	6.37:g.116987891T>A	ENSP00000357565:p.Glu155Asp					ZUFSP_uc010kef.1_Intron	p.E155D	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)	2	711	-			155			C2H2-type 2.		Q5TD92|Q6PJH7|Q96NV6	Missense_Mutation	SNP	ENST00000368576.3	37	c.465A>T	CCDS5110.1	.	.	.	.	.	.	.	.	.	.	T	13.44	2.238794	0.39598	.	.	ENSG00000153975	ENST00000368576;ENST00000368573	T;T	0.29917	1.55;1.55	5.75	4.59	0.56863	Zinc finger, C2H2-like (1);	0.217186	0.49305	D	0.000160	T	0.17152	0.0412	M	0.63843	1.955	0.37007	D	0.89556	P	0.52842	0.956	B	0.44224	0.444	T	0.05451	-1.0884	10	0.36615	T	0.2	-24.4417	7.2712	0.26258	0.0:0.1702:0.0:0.8298	.	155	Q96AP4	ZUFSP_HUMAN	D	155	ENSP00000357565:E155D;ENSP00000357562:E155D	ENSP00000357562:E155D	E	-	3	2	ZUFSP	117094584	1.000000	0.71417	1.000000	0.80357	0.311000	0.27955	0.868000	0.27982	0.994000	0.38892	0.533000	0.62120	GAA		0.373	ZUFSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041961.1	NM_145062		19	95	0	0	0	0	19	95				
TRDN	10345	broad.mit.edu	37	6	123637620	123637620	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:123637620C>T	ENST00000398178.3	-	24	1513	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	TRDN_ENST00000334268.4_Missense_Mutation_p.E498K	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	498					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GACATCTTTTCATCTTTTTTA	0.328																																						uc003pzj.1		NA																	0				ovary(1)	1						c.(1492-1494)GAA>AAA		triadin							164.0	153.0	156.0					6																	123637620		1825	4080	5905	SO:0001583	missense	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123637620C>T	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1492G>A	6.37:g.123637620C>T	ENSP00000381240:p.Glu498Lys					TRDN_uc010kem.1_5'UTR	p.E498K	NM_006073	NP_006064	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	24	1514	-			498			Lumenal.		A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	37	c.1492G>A	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.053974	0.55218	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.33216	1.42;1.42	3.22	2.35	0.29111	.	0.000000	0.41605	D	0.000852	T	0.06826	0.0174	L	0.27053	0.805	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.12941	-1.0528	10	0.17832	T	0.49	-10.3618	6.2105	0.20626	0.0:0.8617:0.0:0.1383	.	498	Q13061	TRDN_HUMAN	K	498;500;498	ENSP00000381240:E498K;ENSP00000333984:E498K	ENSP00000333984:E498K	E	-	1	0	TRDN	123679319	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	3.057000	0.49931	0.926000	0.37118	0.585000	0.79938	GAA		0.328	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				19	82	0	0	0	0	19	82				
SLC35D3	340146	broad.mit.edu	37	6	137245833	137245833	+	Nonstop_Mutation	SNP	G	G	C	rs368466205		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:137245833G>C	ENST00000331858.4	+	2	1415	c.1250G>C	c.(1249-1251)tGa>tCa	p.*417S		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	0					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCCAGTCCTTGAGAAGGAGGT	0.408																																						uc003qhe.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1249-1251)TGA>TCA		solute carrier family 35, member D3							73.0	79.0	77.0					6																	137245833		2203	4300	6503	SO:0001578	stop_lost	340146				carbohydrate transport	integral to membrane		g.chr6:137245833G>C		CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1250G>C	6.37:g.137245833G>C	ENSP00000333591:p.*417Serext*17						p.*417S	NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN		GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)	2	1415	+	Colorectal(23;0.24)		417					B4DI58|Q5QNZ6|Q6NX71	Nonstop_Mutation	SNP	ENST00000331858.4	37	c.1250G>C	CCDS34544.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.506115	0.26949	.	.	ENSG00000182747	ENST00000331858	.	.	.	5.07	4.2	0.49525	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.9743	0.41774	0.161:0.0:0.839:0.0	.	.	.	.	S	417	.	.	X	+	2	2	SLC35D3	137287526	1.000000	0.71417	0.978000	0.43139	0.974000	0.67602	3.283000	0.51701	1.365000	0.46057	0.655000	0.94253	TGA		0.408	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042389.2	XM_294017		14	37	0	0	0	0	14	37				
TTLL2	83887	broad.mit.edu	37	6	167754040	167754040	+	Missense_Mutation	SNP	C	C	T	rs201403956		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr6:167754040C>T	ENST00000239587.5	+	3	740	c.652C>T	c.(652-654)Cgt>Tgt	p.R218C		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	218	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGAGTTATCTCGTGGGAGGGG	0.423													C|||	1	0.000199681	0.0	0.0014	5008	,	,		22322	0.0		0.0	False		,,,				2504	0.0					uc003qvs.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(652-654)CGT>TGT		tubulin tyrosine ligase-like family, member 2							95.0	93.0	94.0					6																	167754040		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167754040C>T	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.652C>T	6.37:g.167754040C>T	ENSP00000239587:p.Arg218Cys					TTLL2_uc011egr.1_RNA	p.R218C	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	740	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	218			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.652C>T	CCDS5301.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	4.956	0.177540	0.09443	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.10382	2.88	3.52	2.65	0.31530	.	0.288867	0.23856	N	0.043899	T	0.03915	0.0110	M	0.67700	2.07	0.09310	N	0.999993	P	0.43701	0.815	B	0.35510	0.204	T	0.27606	-1.0069	10	0.87932	D	0	.	5.7088	0.17923	0.1899:0.7041:0.0:0.106	.	218	Q9BWV7	TTLL2_HUMAN	C	218;145	ENSP00000239587:R218C	ENSP00000239587:R218C	R	+	1	0	TTLL2	167674030	0.010000	0.17322	0.001000	0.08648	0.155000	0.21991	0.283000	0.18846	0.808000	0.34231	0.484000	0.47621	CGT		0.423	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		24	69	0	0	0	0	24	69				
ZNF12	7559	broad.mit.edu	37	7	6730809	6730809	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:6730809C>T	ENST00000405858.1	-	5	2305	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	ZNF12_ENST00000342651.5_Silent_p.Q550Q|AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Silent_p.Q514Q	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	588					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGGCTGAATTCTGGCAGAAGG	0.413																																						uc003sqt.1		NA																	0					0						c.(1762-1764)CAG>CAA		zinc finger protein 12 isoform a							59.0	63.0	62.0					7																	6730809		2188	4298	6486	SO:0001819	synonymous_variant	7559				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:6730809C>T	X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1764G>A	7.37:g.6730809C>T						ZNF12_uc011jxa.1_Silent_p.Q426Q|ZNF12_uc003sqs.1_Silent_p.Q550Q	p.Q588Q	NM_016265	NP_057349	P17014	ZNF12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)	5	2318	-		Ovarian(82;0.0776)	588			C2H2-type 12.		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Silent	SNP	ENST00000405858.1	37	c.1764G>A	CCDS47538.1																																																																																				0.413	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000324373.2	NM_016265		14	43	0	0	0	0	14	43				
THSD7A	221981	broad.mit.edu	37	7	11468681	11468681	+	Missense_Mutation	SNP	G	G	A	rs370952825		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:11468681G>A	ENST00000423059.4	-	14	3387	c.3136C>T	c.(3136-3138)Cgc>Tgc	p.R1046C	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1046	TSP type-1 11. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1046C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TTGCTGCAGCGCGACCAGTTG	0.517										HNSCC(18;0.044)																												uc003ssf.3		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(3)	3						c.(3136-3138)CGC>TGC		thrombospondin, type I, domain containing 7A		G	CYS/ARG	0,4106		0,0,2053	175.0	175.0	175.0		3136	4.4	0.9	7		175	1,8375		0,1,4187	no	missense	THSD7A	NM_015204.2	180	0,1,6240	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	1046/1658	11468681	1,12481	2053	4188	6241	SO:0001583	missense	221981					integral to membrane		g.chr7:11468681G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.3136C>T	7.37:g.11468681G>A	ENSP00000406482:p.Arg1046Cys	HNSCC(18;0.044)					p.R1046C	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	14	3388	-			1046			TSP type-1 11.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000423059.4	37	c.3136C>T	CCDS47543.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.393138	0.83011	0.0	1.19E-4	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.53640	0.61	5.28	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.62889	0.2465	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.66472	-0.5915	10	0.66056	D	0.02	.	15.6947	0.77488	0.0:0.0:0.8623:0.1377	.	1046	Q9UPZ6	THS7A_HUMAN	C	1046	ENSP00000406482:R1046C	ENSP00000262042:R1046C	R	-	1	0	THSD7A	11435206	1.000000	0.71417	0.864000	0.33941	0.988000	0.76386	7.927000	0.87577	1.324000	0.45282	0.655000	0.94253	CGC		0.517	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		63	219	0	0	0	0	63	219				
MALSU1	115416	broad.mit.edu	37	7	23349102	23349102	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:23349102C>A	ENST00000466681.1	+	4	798	c.645C>A	c.(643-645)ttC>ttA	p.F215L		NM_138446.1	NP_612455.1	Q96EH3	MASU1_HUMAN	mitochondrial assembly of ribosomal large subunit 1	215					negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273)	mitochondrion (GO:0005739)											CTGAAGACTTCATTCTTGGAA	0.363																																						uc003swd.1		NA																	0					0						c.(643-645)TTC>TTA		hypothetical protein LOC115416							106.0	99.0	101.0					7																	23349102		2203	4300	6503	SO:0001583	missense	115416					mitochondrion		g.chr7:23349102C>A	BC012331	CCDS5381.1	7p15.3	2013-05-24	2012-02-20	2012-02-20	ENSG00000156928	ENSG00000156928			21721	protein-coding gene	gene with protein product		614624	"""chromosome 7 open reading frame 30"""	C7orf30		22238376, 22238375	Standard	NM_138446		Approved	mtRsfA	uc003swd.1	Q96EH3	OTTHUMG00000128443	ENST00000466681.1:c.645C>A	7.37:g.23349102C>A	ENSP00000419370:p.Phe215Leu					C7orf30_uc003swe.2_RNA	p.F215L	NM_138446	NP_612455	Q96EH3	CG030_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		4	677	+			215					A4D154	Missense_Mutation	SNP	ENST00000466681.1	37	c.645C>A	CCDS5381.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.277146	0.80580	.	.	ENSG00000156928	ENST00000466681	.	.	.	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000001	T	0.56426	0.1984	N	0.24115	0.695	0.45777	D	0.998663	D	0.76494	0.999	D	0.80764	0.994	T	0.58418	-0.7640	9	0.56958	D	0.05	-12.0026	9.8385	0.40985	0.0:0.8425:0.0:0.1575	.	215	Q96EH3	CG030_HUMAN	L	215	.	ENSP00000419370:F215L	F	+	3	2	C7orf30	23315627	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	0.948000	0.29096	2.645000	0.89757	0.591000	0.81541	TTC		0.363	MALSU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250241.2	NM_138446		20	70	1	0	7.45e-12	8.08e-12	20	70				
STK31	56164	broad.mit.edu	37	7	23766884	23766884	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:23766884G>C	ENST00000355870.3	+	5	393	c.274G>C	c.(274-276)Gat>Cat	p.D92H	STK31_ENST00000428484.1_Missense_Mutation_p.D69H|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000354639.3_Missense_Mutation_p.D69H|STK31_ENST00000433467.2_Missense_Mutation_p.D92H	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	92	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.					acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTTCTGAAGATCAGTGTTG	0.308																																						uc003sws.3		NA																	0				skin(3)|lung(2)|ovary(2)|stomach(2)	9						c.(274-276)GAT>CAT		serine/threonine kinase 31 isoform a							120.0	114.0	116.0					7																	23766884		2203	4299	6502	SO:0001583	missense	56164						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	g.chr7:23766884G>C	AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.274G>C	7.37:g.23766884G>C	ENSP00000348132:p.Asp92His					STK31_uc003swt.3_Missense_Mutation_p.D69H|STK31_uc011jze.1_Missense_Mutation_p.D92H|STK31_uc010kuq.2_Missense_Mutation_p.D69H	p.D92H	NM_031414	NP_113602	Q9BXU1	STK31_HUMAN			5	341	+			92			Tudor.		B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	c.274G>C	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.413882	0.83449	.	.	ENSG00000196335	ENST00000355870;ENST00000422637;ENST00000456014;ENST00000433467;ENST00000354639;ENST00000444333;ENST00000428484	T;T;T;T;T;T;T	0.18960	2.18;2.18;2.18;2.18;2.18;2.18;2.18	5.67	5.67	0.87782	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.000000	0.85682	D	0.000000	T	0.52613	0.1745	M	0.83384	2.64	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.56745	-0.7928	10	0.87932	D	0	-18.1378	18.534	0.91002	0.0:0.0:1.0:0.0	.	92;92	B4DZ06;Q9BXU1	.;STK31_HUMAN	H	92;48;69;92;69;69;69	ENSP00000348132:D92H;ENSP00000414087:D48H;ENSP00000389340:D69H;ENSP00000411852:D92H;ENSP00000346660:D69H;ENSP00000398413:D69H;ENSP00000406146:D69H	ENSP00000346660:D69H	D	+	1	0	STK31	23733409	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.105000	0.77031	2.677000	0.91161	0.650000	0.86243	GAT		0.308	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414		11	61	0	0	0	0	11	61				
AC005013.5	0	broad.mit.edu	37	7	28996924	28996924	+	lincRNA	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:28996924G>C	ENST00000436594.1	+	0	0				TRIL_ENST00000322982.3_RNA																							TGGAAGATGCGCGGCCCGAGG	0.697																																						uc003szt.2		NA																	0					0						c.(739-741)CGC>GGC		TLR4 interactor with leucine rich repeats							18.0	24.0	22.0					7																	28996924		2153	4248	6401			9865				inflammatory response|innate immune response|regulation of cytokine production involved in immune response|toll-like receptor 4 signaling pathway	lipopolysaccharide receptor complex	lipopolysaccharide binding	g.chr7:28996924G>C																													7.37:g.28996924G>C						uc003szu.1_5'Flank	p.R247G	NM_014817	NP_055632	Q7L0X0	TRIL_HUMAN			3	1106	-			247			Extracellular (Potential).|LRR 8.			Missense_Mutation	SNP	ENST00000436594.1	37	c.739C>G																																																																																					0.697	AC005013.5-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000327953.3			7	40	0	0	0	0	7	40				
KBTBD2	25948	broad.mit.edu	37	7	32919190	32919190	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:32919190G>C	ENST00000304056.4	-	2	726	c.27C>G	c.(25-27)atC>atG	p.I9M	KBTBD2_ENST00000485611.1_Intron|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	9										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATTCAGTATTGATCTGCCTCT	0.388																																						uc003tdb.2		NA																	0					0						c.(25-27)ATC>ATG		kelch repeat and BTB (POZ) domain containing 2							100.0	89.0	93.0					7																	32919190		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32919190G>C	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.27C>G	7.37:g.32919190G>C	ENSP00000302586:p.Ile9Met					AVL9_uc011kai.1_Intron	p.I9M	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		2	686	-			9					A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.27C>G	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.335154	0.24253	.	.	ENSG00000170852	ENST00000304056;ENST00000452926;ENST00000453627;ENST00000423022	T	0.66995	-0.24	6.16	4.37	0.52481	BTB/POZ fold (1);	0.188851	0.56097	D	0.000028	T	0.43033	0.1229	N	0.05230	-0.09	0.80722	D	1	B	0.34015	0.435	B	0.36289	0.221	T	0.36553	-0.9743	10	0.25751	T	0.34	.	8.5635	0.33525	0.1349:0.0:0.7317:0.1335	.	9	Q8IY47	KBTB2_HUMAN	M	9	ENSP00000302586:I9M	ENSP00000302586:I9M	I	-	3	3	KBTBD2	32885715	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.361000	0.52306	1.629000	0.50426	-0.143000	0.13931	ATC		0.388	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		4	24	0	0	0	0	4	24				
BMPER	168667	broad.mit.edu	37	7	34118698	34118698	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:34118698C>G	ENST00000297161.2	+	13	1682	c.1308C>G	c.(1306-1308)ctC>ctG	p.L436L	BMPER_ENST00000426693.1_Silent_p.L436L	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	436	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|endothelial cell activation (GO:0042118)|inner ear development (GO:0048839)|negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of endothelial cell migration (GO:0010594)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGCAGCACCTCACCGTGCGCT	0.652																																						uc011kap.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1306-1308)CTC>CTG		BMP-binding endothelial regulator precursor							76.0	76.0	76.0					7																	34118698		2203	4300	6503	SO:0001819	synonymous_variant	168667				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space		g.chr7:34118698C>G		CCDS5442.1	7p14.3	2009-02-18			ENSG00000164619	ENSG00000164619			24154	protein-coding gene	gene with protein product	"""crossveinless-2"""	608699				12897139, 14766204	Standard	NM_133468		Approved	Cv2, CRIM3	uc011kap.2	Q8N8U9	OTTHUMG00000128675	ENST00000297161.2:c.1308C>G	7.37:g.34118698C>G							p.L436L	NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN			12	1422	+			436			VWFD.		A8K1P8|Q8TF36	Silent	SNP	ENST00000297161.2	37	c.1308C>G	CCDS5442.1																																																																																				0.652	BMPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250570.2	NM_133468		21	97	0	0	0	0	21	97				
HECW1	23072	broad.mit.edu	37	7	43591890	43591890	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:43591890G>A	ENST00000395891.2	+	28	5070	c.4465G>A	c.(4465-4467)Gaa>Aaa	p.E1489K	HECW1_ENST00000453890.1_Missense_Mutation_p.E1455K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1489	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGGCACCGCGGAAATCGACCT	0.522																																						uc003tid.1		NA																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(4465-4467)GAA>AAA		NEDD4-like ubiquitin-protein ligase 1							120.0	124.0	123.0					7																	43591890		2035	4183	6218	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43591890G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4465G>A	7.37:g.43591890G>A	ENSP00000379228:p.Glu1489Lys					HECW1_uc011kbi.1_Missense_Mutation_p.E1455K	p.E1489K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			28	5070	+			1489			HECT.		A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.4465G>A	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	36	5.817628	0.96982	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.56611	0.45;0.45	5.81	5.81	0.92471	HECT (4);	0.000000	0.85682	D	0.000000	T	0.73009	0.3532	M	0.69463	2.115	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.79784	0.993;0.981	T	0.74041	-0.3792	10	0.87932	D	0	.	20.0628	0.97684	0.0:0.0:1.0:0.0	.	1455;1489	B4DH42;Q76N89	.;HECW1_HUMAN	K	1489;1455;1489	ENSP00000379228:E1489K;ENSP00000407774:E1455K	ENSP00000265522:E1489K	E	+	1	0	HECW1	43558415	1.000000	0.71417	0.881000	0.34555	0.954000	0.61252	9.414000	0.97362	2.745000	0.94114	0.655000	0.94253	GAA		0.522	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052		25	95	0	0	0	0	25	95				
AUTS2	26053	broad.mit.edu	37	7	70255920	70255920	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:70255920C>T	ENST00000342771.4	+	19	4039	c.3718C>T	c.(3718-3720)Ctg>Ttg	p.L1240L	AUTS2_ENST00000406775.2_Silent_p.L1216L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1240										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACGACTCCTCTGTCCGCAGA	0.622																																						uc003tvw.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(3718-3720)CTG>TTG		autism susceptibility candidate 2 isoform 1							26.0	28.0	27.0					7																	70255920		2201	4299	6500	SO:0001819	synonymous_variant	26053							g.chr7:70255920C>T	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3718C>T	7.37:g.70255920C>T						AUTS2_uc003tvx.3_Silent_p.L1216L|AUTS2_uc011keg.1_Silent_p.L692L	p.L1240L	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)	19	4461	+		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)	1240					A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	ENST00000342771.4	37	c.3718C>T	CCDS5539.1																																																																																				0.622	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			6	20	0	0	0	0	6	20				
SRRM3	222183	broad.mit.edu	37	7	75894128	75894128	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:75894128G>C	ENST00000326382.8	+	9	927	c.720G>C	c.(718-720)aaG>aaC	p.K240N	SRRM3_ENST00000388802.4_Missense_Mutation_p.K240N	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	240	Arg-rich.|Lys-rich.|Ser-rich.									NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						ACAAAGAgaagaagaggtaag	0.542																																						uc010ldi.2		NA																	0					0						c.(718-720)AAG>AAC		serine/arginine repetitive matrix 3							118.0	118.0	118.0					7																	75894128		1568	3582	5150	SO:0001583	missense	222183							g.chr7:75894128G>C	AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.720G>C	7.37:g.75894128G>C	ENSP00000325298:p.Lys240Asn					SRRM3_uc011kgi.1_5'Flank	p.K240N	NM_001110199	NP_001103669					9	929	+								A6ND75	Missense_Mutation	SNP	ENST00000326382.8	37	c.720G>C		.	.	.	.	.	.	.	.	.	.	G	12.25	1.881755	0.33255	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	T	0.02525	4.26	4.23	3.04	0.35103	.	0.306973	0.19327	N	0.116991	T	0.02267	0.0070	L	0.32530	0.975	0.22779	N	0.998743	B	0.23058	0.079	B	0.18871	0.023	T	0.46062	-0.9218	10	0.24483	T	0.36	-14.1295	4.283	0.10841	0.1734:0.2115:0.6151:0.0	.	240	A6NNA2	SRRM3_HUMAN	N	240	ENSP00000373454:K240N	ENSP00000325298:K240N	K	+	3	2	SRRM3	75732064	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	0.362000	0.20284	0.805000	0.34159	0.555000	0.69702	AAG		0.542	SRRM3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000252889.2	NM_001110199		11	43	0	0	0	0	11	43				
SEMA3C	10512	broad.mit.edu	37	7	80418764	80418764	+	Silent	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:80418764A>G	ENST00000265361.3	-	12	1773	c.1212T>C	c.(1210-1212)caT>caC	p.H404H	SEMA3C_ENST00000544525.1_Silent_p.H422H|SEMA3C_ENST00000419255.2_Silent_p.H404H	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	404	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACATGAGAGGATGGTTCCGAA	0.418																																						uc003uhj.2		NA																	0				ovary(1)	1						c.(1210-1212)CAT>CAC		semaphorin 3C precursor							160.0	146.0	151.0					7																	80418764		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80418764A>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.1212T>C	7.37:g.80418764A>G						SEMA3C_uc011kgw.1_Silent_p.H422H	p.H404H	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			12	1774	-			404			Sema.		B4DRL8	Silent	SNP	ENST00000265361.3	37	c.1212T>C	CCDS5596.1																																																																																				0.418	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		16	125	0	0	0	0	16	125				
ZNF3	7551	broad.mit.edu	37	7	99669200	99669200	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:99669200G>C	ENST00000424697.1	-	6	1213	c.907C>G	c.(907-909)Cag>Gag	p.Q303E	ZNF3_ENST00000299667.4_Missense_Mutation_p.Q303E|ZNF3_ENST00000413658.2_Intron|ZNF3_ENST00000303915.6_Missense_Mutation_p.Q303E	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	303					cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGGATTCTCTGATGGTGGGTG	0.532																																						uc003usq.2		NA																	0				ovary(1)	1						c.(907-909)CAG>GAG		zinc finger protein 3 isoform 2							49.0	54.0	52.0					7																	99669200		2198	4299	6497	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669200G>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.907C>G	7.37:g.99669200G>C	ENSP00000415358:p.Gln303Glu					ZNF3_uc003usp.2_Intron|ZNF3_uc003usr.2_Missense_Mutation_p.Q303E|ZNF3_uc010lgj.2_Missense_Mutation_p.Q267E|ZNF3_uc003uss.2_Missense_Mutation_p.Q310E|ZNF3_uc003ust.3_Missense_Mutation_p.Q303E	p.Q303E	NM_032924	NP_116313	P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		6	1214	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	303			C2H2-type 4.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.907C>G	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484486	0.44147	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667	T;T;T	0.07327	3.2;3.2;3.2	4.75	4.75	0.60458	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000119	T	0.11836	0.0288	N	0.04203	-0.255	0.29442	N	0.859068	D;D	0.63046	0.992;0.991	D;P	0.69654	0.965;0.903	T	0.12344	-1.0551	10	0.72032	D	0.01	-24.7839	15.6367	0.76961	0.0:0.0:1.0:0.0	.	286;303	B3KRP4;P17036	.;ZNF3_HUMAN	E	303	ENSP00000415358:Q303E;ENSP00000306372:Q303E;ENSP00000299667:Q303E	ENSP00000299667:Q303E	Q	-	1	0	ZNF3	99507136	0.850000	0.29656	1.000000	0.80357	0.996000	0.88848	2.105000	0.41825	2.648000	0.89879	0.655000	0.94253	CAG		0.532	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		12	49	0	0	0	0	12	49				
MCM7	4176	broad.mit.edu	37	7	99694942	99694942	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:99694942C>G	ENST00000303887.5	-	10	1828	c.1183G>C	c.(1183-1185)Gat>Cat	p.D395H	MCM7_ENST00000354230.3_Missense_Mutation_p.D219H|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	395	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGTCGATCAATGTATGAC	0.507																																						uc003usw.1		NA																	0					0						c.(1183-1185)GAT>CAT		minichromosome maintenance complex component 7	Atorvastatin(DB01076)						108.0	91.0	97.0					7																	99694942		2203	4300	6503	SO:0001583	missense	4176				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	g.chr7:99694942C>G		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1183G>C	7.37:g.99694942C>G	ENSP00000307288:p.Asp395His					MCM7_uc003usv.1_Missense_Mutation_p.D219H|MCM7_uc003usx.1_Missense_Mutation_p.D219H	p.D395H	NM_005916	NP_005907	P33993	MCM7_HUMAN			10	1693	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		395			MCM.		A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	37	c.1183G>C	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078484	0.55753	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.10192	2.9;2.9	4.97	4.97	0.65823	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.17831	0.0428	N	0.26042	0.785	0.80722	D	1	D	0.65815	0.995	D	0.67900	0.954	T	0.07654	-1.0761	10	0.11794	T	0.64	-2.7904	15.7859	0.78304	0.0:1.0:0.0:0.0	.	395	P33993	MCM7_HUMAN	H	395;332;288;219	ENSP00000307288:D395H;ENSP00000346171:D219H	ENSP00000307288:D395H	D	-	1	0	MCM7	99532878	1.000000	0.71417	0.933000	0.37362	0.054000	0.15201	6.457000	0.73505	2.576000	0.86940	0.655000	0.94253	GAT		0.507	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3			13	53	0	0	0	0	13	53				
SLC26A5	375611	broad.mit.edu	37	7	103050935	103050935	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:103050935C>T	ENST00000306312.3	-	7	893	c.632G>A	c.(631-633)cGt>cAt	p.R211H	SLC26A5_ENST00000354356.4_De_novo_Start_OutOfFrame|SLC26A5_ENST00000393735.2_Missense_Mutation_p.R211H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.R174H|SLC26A5_ENST00000393723.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.R211H|SLC26A5_ENST00000356767.4_Missense_Mutation_p.R211H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.R211H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.R211H	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	211					regulation of cell shape (GO:0008360)|regulation of membrane potential (GO:0042391)|sensory perception of sound (GO:0007605)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)	secondary active sulfate transmembrane transporter activity (GO:0008271)			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GGTAAACCCACGGACCAGAGG	0.413																																						uc003vbz.2		NA																	0				ovary(1)	1						c.(631-633)CGT>CAT		prestin isoform a							70.0	69.0	69.0					7																	103050935		2203	4300	6503	SO:0001583	missense	375611				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	g.chr7:103050935C>T	AC005064	CCDS5733.1, CCDS43630.1, CCDS55150.1, CCDS5732.1, CCDS43629.1	7q22	2013-07-18	2013-07-18	2005-09-13	ENSG00000170615	ENSG00000170615		"""Solute carriers"""	9359	protein-coding gene	gene with protein product	"""deafness, neurosensory, autosomal recessive, 61"""	604943	"""prestin (motor protein)"""	PRES		10821263	Standard	NM_206883		Approved	DFNB61	uc003vbz.3	P58743	OTTHUMG00000149911	ENST00000306312.3:c.632G>A	7.37:g.103050935C>T	ENSP00000304783:p.Arg211His					SLC26A5_uc003vbt.1_Missense_Mutation_p.R211H|SLC26A5_uc003vbu.1_Missense_Mutation_p.R211H|SLC26A5_uc003vbv.1_Missense_Mutation_p.R211H|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Missense_Mutation_p.R211H|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA	p.R211H	NM_198999	NP_945350	P58743	S26A5_HUMAN			7	868	-			211			Cytoplasmic (Potential).		Q496J2|Q7Z7F3|Q86UF8|Q86UF9|Q86UG0	Missense_Mutation	SNP	ENST00000306312.3	37	c.632G>A	CCDS5733.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.553733	0.86231	.	.	ENSG00000170615	ENST00000339444;ENST00000356767;ENST00000393735;ENST00000306312;ENST00000393730;ENST00000432958;ENST00000393729;ENST00000393727;ENST00000393723	D;D;D;D;D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12;-3.12	5.72	5.72	0.89469	Sulphate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95987	0.8693	M	0.78637	2.42	0.80722	D	1	P;D;P;D;D	0.76494	0.909;0.999;0.733;0.996;0.997	P;D;P;P;P	0.66497	0.634;0.944;0.501;0.839;0.907	D	0.95899	0.8913	10	0.72032	D	0.01	.	19.885	0.96909	0.0:1.0:0.0:0.0	.	211;211;211;211;211	P58743;Q496J2;P58743-4;P58743-3;P58743-2	S26A5_HUMAN;.;.;.;.	H	211;211;211;211;211;211;174;211;211	ENSP00000342396:R211H;ENSP00000349210:R211H;ENSP00000377336:R211H;ENSP00000304783:R211H;ENSP00000377331:R211H;ENSP00000389733:R211H;ENSP00000377330:R174H;ENSP00000377328:R211H;ENSP00000377324:R211H	ENSP00000304783:R211H	R	-	2	0	SLC26A5	102838171	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.667000	0.68067	2.708000	0.92522	0.591000	0.81541	CGT		0.413	SLC26A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313860.1	NM_198999		11	48	0	0	0	0	11	48				
HBP1	26959	broad.mit.edu	37	7	106836328	106836328	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:106836328A>G	ENST00000222574.4	+	9	1303	c.1117A>G	c.(1117-1119)Atg>Gtg	p.M373V	HBP1_ENST00000485846.1_Missense_Mutation_p.M373V|HBP1_ENST00000461963.1_3'UTR|CTA-363E19.2_ENST00000607036.1_RNA|HBP1_ENST00000468410.1_Missense_Mutation_p.M373V	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	373					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GTTAAGTAGTATGGCTCGCCA	0.373																																						uc003vdy.2		NA																	0				skin(1)	1						c.(1117-1119)ATG>GTG		HMG-box transcription factor 1							89.0	88.0	88.0					7																	106836328		2203	4300	6503	SO:0001583	missense	26959				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding	g.chr7:106836328A>G	BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1117A>G	7.37:g.106836328A>G	ENSP00000222574:p.Met373Val					HBP1_uc011klv.1_Missense_Mutation_p.M383V|HBP1_uc003vdz.2_Missense_Mutation_p.M373V|HBP1_uc003vea.2_Missense_Mutation_p.M373V|HBP1_uc003veb.1_Missense_Mutation_p.M373V	p.M373V	NM_012257	NP_036389	O60381	HBP1_HUMAN			9	1303	+			373					B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	ENST00000222574.4	37	c.1117A>G	CCDS5741.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.587107	0.86851	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D	0.99252	-5.63;-5.63;-5.63	5.96	5.96	0.96718	.	0.033606	0.85682	D	0.000000	D	0.98909	0.9630	L	0.32530	0.975	0.80722	D	1	P;D;D	0.71674	0.924;0.998;0.997	P;D;D	0.76071	0.878;0.987;0.97	D	0.99929	1.1308	10	0.72032	D	0.01	-20.1683	16.4343	0.83869	1.0:0.0:0.0:0.0	.	383;373;373	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	V	373;373;373;365	ENSP00000420500:M373V;ENSP00000222574:M373V;ENSP00000418738:M373V	ENSP00000222574:M373V	M	+	1	0	HBP1	106623564	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.281000	0.95811	2.285000	0.76669	0.528000	0.53228	ATG		0.373	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349297.1	NM_012257		34	85	0	0	0	0	34	85				
MKLN1	4289	broad.mit.edu	37	7	131155605	131155605	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:131155605G>A	ENST00000352689.6	+	16	1973	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	MKLN1_ENST00000498778.1_3'UTR|MKLN1_ENST00000421797.2_Missense_Mutation_p.E553K	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	645					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TTCTAGGTTTGAAGAAAAGGC	0.343																																						uc011kpm.1		NA																	0				breast(1)	1						c.(1933-1935)GAA>AAA		muskelin 1, intracellular mediator containing							68.0	72.0	71.0					7																	131155605		2199	4298	6497	SO:0001583	missense	4289				signal transduction	cytoplasm	protein binding	g.chr7:131155605G>A	AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.1933G>A	7.37:g.131155605G>A	ENSP00000323527:p.Glu645Lys					MKLN1_uc011kpl.1_Missense_Mutation_p.E622K|MKLN1_uc010lmh.2_Missense_Mutation_p.E645K|MKLN1_uc003vqs.2_Missense_Mutation_p.E438K|MKLN1_uc003vqu.2_Missense_Mutation_p.E135K|MKLN1_uc003vqv.1_RNA	p.E645K	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN			16	1997	+	Melanoma(18;0.162)		645			Kelch 6.		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Missense_Mutation	SNP	ENST00000352689.6	37	c.1933G>A	CCDS34754.1	.	.	.	.	.	.	.	.	.	.	G	17.11	3.305848	0.60305	.	.	ENSG00000128585	ENST00000421797;ENST00000352689;ENST00000388758	T;T	0.43688	1.93;0.94	5.87	5.87	0.94306	.	0.046625	0.85682	D	0.000000	T	0.31358	0.0794	N	0.16368	0.405	0.80722	D	1	B;B;B;B	0.18166	0.026;0.013;0.013;0.007	B;B;B;B	0.13407	0.009;0.005;0.005;0.007	T	0.04693	-1.0933	10	0.28530	T	0.3	-20.4087	19.2041	0.93723	0.0:0.0:1.0:0.0	.	645;622;553;135	Q9UL63;B4DG30;C9J7E8;F8W7E8	MKLN1_HUMAN;.;.;.	K	553;645;135	ENSP00000398094:E553K;ENSP00000323527:E645K	ENSP00000323527:E645K	E	+	1	0	MKLN1	130806145	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.124000	0.94394	2.784000	0.95788	0.549000	0.68633	GAA		0.343	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000337473.4	NM_013255		13	49	0	0	0	0	13	49				
EXOC4	60412	broad.mit.edu	37	7	132959795	132959795	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:132959795G>C	ENST00000253861.4	+	2	174	c.145G>C	c.(145-147)Gaa>Caa	p.E49Q	EXOC4_ENST00000393161.2_Missense_Mutation_p.E49Q|EXOC4_ENST00000539845.1_5'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	49					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TCGCCTTGAAGAAGCCTACGA	0.458																																						uc003vrk.2		NA																	0				ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1)	9						c.(145-147)GAA>CAA		SEC8 protein isoform a							133.0	120.0	125.0					7																	132959795		2203	4300	6503	SO:0001583	missense	60412				vesicle docking involved in exocytosis	exocyst	protein N-terminus binding	g.chr7:132959795G>C	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.145G>C	7.37:g.132959795G>C	ENSP00000253861:p.Glu49Gln					EXOC4_uc011kpo.1_5'UTR|EXOC4_uc003vri.2_Missense_Mutation_p.E49Q|EXOC4_uc003vrj.2_Missense_Mutation_p.E49Q	p.E49Q	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN			2	180	+		Esophageal squamous(399;0.129)	49			Potential.		E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	ENST00000253861.4	37	c.145G>C	CCDS5829.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.438506	0.83885	.	.	ENSG00000131558	ENST00000253861;ENST00000393161	.	.	.	5.66	5.66	0.87406	Sec8 exocyst complex component specific domain (1);	0.000000	0.85682	D	0.000000	T	0.65780	0.2724	L	0.44542	1.39	0.80722	D	1	D;D	0.57257	0.975;0.979	P;P	0.57371	0.819;0.777	T	0.58504	-0.7625	9	0.23891	T	0.37	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	49;49	Q96A65;Q8TAR2	EXOC4_HUMAN;.	Q	49	.	ENSP00000253861:E49Q	E	+	1	0	EXOC4	132610335	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.360000	0.97119	2.666000	0.90696	0.655000	0.94253	GAA		0.458	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339182.1	NM_021807		25	56	0	0	0	0	25	56				
OR9A4	130075	broad.mit.edu	37	7	141618814	141618814	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:141618814A>T	ENST00000548136.1	+	1	198	c.139A>T	c.(139-141)Att>Ttt	p.I47F	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	47						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CATCATCATGATTGTCTGTGT	0.458																																						uc003vwu.1		NA																	0				skin(1)	1						c.(139-141)ATT>TTT		olfactory receptor, family 9, subfamily A,							190.0	197.0	194.0					7																	141618814		2203	4300	6503	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618814A>T		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.139A>T	7.37:g.141618814A>T	ENSP00000448789:p.Ile47Phe						p.I47F	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			1	139	+	Melanoma(164;0.0171)		47			Cytoplasmic (Potential).		B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.139A>T	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	5.655	0.305544	0.10678	.	.	ENSG00000258083	ENST00000548136	T	0.03035	4.07	3.88	2.72	0.32119	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.06234	0.0161	M	0.79475	2.455	0.09310	N	1	B	0.18310	0.027	B	0.19148	0.024	T	0.32079	-0.9920	9	0.87932	D	0	-7.3007	4.1069	0.10040	0.6781:0.2103:0.1116:0.0	.	47	Q8NGU2	OR9A4_HUMAN	F	47	ENSP00000448789:I47F	ENSP00000386148:I47F	I	+	1	0	OR9A4	141265283	0.000000	0.05858	0.087000	0.20705	0.317000	0.28152	-0.654000	0.05354	0.667000	0.31107	0.523000	0.50628	ATT		0.458	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		46	113	0	0	0	0	46	113				
FAM115A	9747	broad.mit.edu	37	7	143573171	143573171	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:143573171A>T	ENST00000479870.1	-	2	739	c.531T>A	c.(529-531)agT>agA	p.S177R	FAM115A_ENST00000355951.2_Missense_Mutation_p.S177R|FAM115A_ENST00000392900.3_Intron	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	177										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					TGCCAGCCACACTGGTCACGA	0.517																																						uc003wdo.1		NA																	0					0						c.(529-531)AGT>AGA		hypothetical protein LOC9747							64.0	55.0	58.0					7																	143573171		2203	4300	6503	SO:0001583	missense	9747							g.chr7:143573171A>T	AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.531T>A	7.37:g.143573171A>T	ENSP00000419235:p.Ser177Arg					FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.S177R	p.S177R	NM_014719	NP_055534	Q9Y4C2	F115A_HUMAN			2	664	-	Melanoma(164;0.0903)		177					A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Missense_Mutation	SNP	ENST00000479870.1	37	c.531T>A	CCDS5886.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240205	0.58995	.	.	ENSG00000198420	ENST00000479870;ENST00000355951	T;T	0.27104	1.69;1.69	4.29	-5.95	0.02241	.	0.214143	0.48767	D	0.000165	T	0.48466	0.1501	M	0.86953	2.85	0.40108	D	0.976459	D	0.89917	1.0	D	0.83275	0.996	T	0.59359	-0.7469	10	0.51188	T	0.08	-16.5008	14.105	0.65083	0.8415:0.0:0.1585:0.0	.	177	Q9Y4C2	F115A_HUMAN	R	177	ENSP00000419235:S177R;ENSP00000348220:S177R	ENSP00000348220:S177R	S	-	3	2	FAM115A	143204104	0.005000	0.15991	0.913000	0.36048	0.899000	0.52679	-1.152000	0.03172	-1.197000	0.02673	-0.924000	0.02725	AGT		0.517	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349583.1	NM_014719		12	27	0	0	0	0	12	27				
OR2A2	442361	broad.mit.edu	37	7	143807023	143807023	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr7:143807023G>A	ENST00000408979.2	+	1	417	c.348G>A	c.(346-348)gtG>gtA	p.V116V		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TTTTGGTGGTGATGTCCTATG	0.453																																						uc011ktz.1		NA																	0				skin(2)	2						c.(346-348)GTG>GTA		olfactory receptor, family 2, subfamily A,							196.0	182.0	187.0					7																	143807023		2106	4259	6365	SO:0001819	synonymous_variant	442361				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143807023G>A		CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.348G>A	7.37:g.143807023G>A							p.V116V	NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN			1	348	+	Melanoma(164;0.0783)		116			Helical; Name=3; (Potential).		B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	c.348G>A	CCDS43671.1																																																																																				0.453	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1			47	93	0	0	0	0	47	93				
ANK1	286	broad.mit.edu	37	8	41557008	41557008	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:41557008C>G	ENST00000347528.4	-	23	2603	c.2520G>C	c.(2518-2520)gaG>gaC	p.E840D	ANK1_ENST00000379758.2_Missense_Mutation_p.E840D|ANK1_ENST00000396945.1_Missense_Mutation_p.E840D|ANK1_ENST00000352337.4_Missense_Mutation_p.E840D|ANK1_ENST00000265709.8_Missense_Mutation_p.E881D|ANK1_ENST00000289734.7_Missense_Mutation_p.E840D|ANK1_ENST00000396942.1_Missense_Mutation_p.E840D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	840					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCAGCTCCTTCTCTTCATCAA	0.577																																						uc003xok.2		NA																	0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(2518-2520)GAG>GAC		ankyrin 1 isoform 1							131.0	122.0	125.0					8																	41557008		2203	4300	6503	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41557008C>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2520G>C	8.37:g.41557008C>G	ENSP00000339620:p.Glu840Asp					NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Missense_Mutation_p.E156D|ANK1_uc003xoi.2_Missense_Mutation_p.E840D|ANK1_uc003xoj.2_Missense_Mutation_p.E840D|ANK1_uc003xol.2_Missense_Mutation_p.E840D|ANK1_uc003xom.2_Missense_Mutation_p.E881D	p.E840D	NM_020476	NP_065209	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		23	2604	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	840					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	c.2520G>C	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.008|1.008	-0.688776|-0.688776	0.03328|0.03328	.|.	.|.	ENSG00000029534|ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820|ENST00000520299	T;T;T;T;T;T;T|T	0.64618|0.66638	-0.1;-0.09;-0.08;-0.06;-0.08;-0.07;-0.11|-0.22	5.49|5.49	3.66|3.66	0.41972|0.41972	.|.	0.113092|0.113092	0.64402|0.64402	D|D	0.000014|0.000014	T|T	0.37919|0.37919	0.1021|0.1021	N|N	0.02665|0.02665	-0.54|-0.54	0.36464|0.36464	D|D	0.866869|0.866869	B;B;B;B;B;B|.	0.10296|.	0.0;0.003;0.0;0.0;0.001;0.001|.	B;B;B;B;B;B|.	0.13407|.	0.003;0.009;0.001;0.002;0.007;0.003|.	T|T	0.31166|0.31166	-0.9953|-0.9953	10|8	0.12103|0.27082	T|T	0.63|0.32	.|.	6.2555|6.2555	0.20872|0.20872	0.0:0.6807:0.1528:0.1665|0.0:0.6807:0.1528:0.1665	.|.	881;840;840;840;840;156|.	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39|.	.;.;ANK1_HUMAN;.;.;.|.	D|Q	840;840;840;840;840;840;881;840|162	ENSP00000339620:E840D;ENSP00000289734:E840D;ENSP00000369082:E840D;ENSP00000380149:E840D;ENSP00000380147:E840D;ENSP00000309131:E840D;ENSP00000265709:E881D|ENSP00000430174:E162Q	ENSP00000265709:E881D|ENSP00000430174:E162Q	E|E	-|-	3|1	2|0	ANK1|ANK1	41676165|41676165	0.984000|0.984000	0.35163|0.35163	0.976000|0.976000	0.42696|0.42696	0.140000|0.140000	0.21249|0.21249	0.296000|0.296000	0.19083|0.19083	0.655000|0.655000	0.30866|0.30866	0.655000|0.655000	0.94253|0.94253	GAG|GAA		0.577	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		3	160	0	0	0	0	3	160				
STMN2	11075	broad.mit.edu	37	8	80577108	80577108	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:80577108G>A	ENST00000220876.7	+	5	921	c.539G>A	c.(538-540)tGa>tAa	p.*180*	STMN2_ENST00000518111.1_3'UTR|STMN2_ENST00000518491.1_Silent_p.*169*	NM_001199214.1|NM_007029.3	NP_001186143.1|NP_008960.2	Q93045	STMN2_HUMAN	stathmin 2	0					cellular response to nerve growth factor stimulus (GO:1990090)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|positive regulation of microtubule depolymerization (GO:0031117)|positive regulation of neuron projection development (GO:0010976)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11	all_lung(9;8.34e-05)		Epithelial(68;0.0229)|all cancers(69;0.0874)			CTGTCTGGCTGAAGCAAGGGA	0.483																																						uc003ybj.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(538-540)TGA>TAA		superiorcervical ganglia, neural specific 10							81.0	84.0	83.0					8																	80577108		1948	4130	6078	SO:0001819	synonymous_variant	11075				intracellular signal transduction|negative regulation of microtubule depolymerization|negative regulation of microtubule polymerization|negative regulation of neuron projection development|neuron differentiation|positive regulation of microtubule depolymerization|positive regulation of neuron projection development	axon|growth cone|membrane|membrane fraction|perinuclear region of cytoplasm|soluble fraction	protein binding	g.chr8:80577108G>A		CCDS43748.1, CCDS56542.1	8q21.13	2014-04-01	2014-04-01	2001-07-13	ENSG00000104435	ENSG00000104435			10577	protein-coding gene	gene with protein product		600621	"""stathmin-like 2"""	SCGN10		8622778, 12140291	Standard	NM_007029		Approved	SCG10	uc022awk.1	Q93045	OTTHUMG00000164610	ENST00000220876.7:c.539G>A	8.37:g.80577108G>A						STMN2_uc010lzp.2_RNA|STMN2_uc011lfn.1_Intron|STMN2_uc003ybk.2_RNA	p.*180*	NM_007029	NP_008960	Q93045	STMN2_HUMAN	Epithelial(68;0.0229)|all cancers(69;0.0874)		5	590	+	all_lung(9;8.34e-05)		180					A8K9M2|G3V110|O14952|Q6PK68	Silent	SNP	ENST00000220876.7	37	c.539G>A	CCDS43748.1																																																																																				0.483	STMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379261.2	NM_007029		11	24	0	0	0	0	11	24				
SYBU	55638	broad.mit.edu	37	8	110592224	110592224	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:110592224G>A	ENST00000422135.1	-	6	1053	c.538C>T	c.(538-540)Cct>Tct	p.P180S	SYBU_ENST00000533171.1_Missense_Mutation_p.P180S|SYBU_ENST00000276646.9_Missense_Mutation_p.P180S|SYBU_ENST00000408889.3_Missense_Mutation_p.P61S|SYBU_ENST00000408908.2_Missense_Mutation_p.P180S|SYBU_ENST00000440310.1_Missense_Mutation_p.P180S|SYBU_ENST00000533895.1_Missense_Mutation_p.P179S|SYBU_ENST00000433638.1_Missense_Mutation_p.P180S|SYBU_ENST00000533065.1_Missense_Mutation_p.P61S|SYBU_ENST00000446070.2_Missense_Mutation_p.P179S|SYBU_ENST00000419099.1_Missense_Mutation_p.P179S|SYBU_ENST00000529175.1_5'UTR|SYBU_ENST00000532779.1_Missense_Mutation_p.P112S|SYBU_ENST00000424158.2_Missense_Mutation_p.P185S|SYBU_ENST00000528331.1_Missense_Mutation_p.P61S|SYBU_ENST00000528647.1_Missense_Mutation_p.P179S|SYBU_ENST00000399066.3_Missense_Mutation_p.P177S|SYBU_ENST00000529690.1_Missense_Mutation_p.P50S|SYBU_ENST00000527707.1_5'UTR	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	180	Ser-rich.|Sufficient for interaction with KIF5B.				regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CGCCCATGAGGACCTCGACTG	0.483																																						uc003ynj.3		NA																	0				ovary(1)	1						c.(538-540)CCT>TCT		Golgi-localized syntaphilin-related protein							114.0	104.0	107.0					8																	110592224		1932	4156	6088	SO:0001583	missense	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110592224G>A	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.538C>T	8.37:g.110592224G>A	ENSP00000407118:p.Pro180Ser					SYBU_uc003yni.3_Missense_Mutation_p.P177S|SYBU_uc003ynk.3_Missense_Mutation_p.P61S|SYBU_uc010mco.2_Missense_Mutation_p.P179S|SYBU_uc003ynl.3_Missense_Mutation_p.P179S|SYBU_uc010mcp.2_Missense_Mutation_p.P180S|SYBU_uc010mcq.2_Missense_Mutation_p.P180S|SYBU_uc003yno.3_Missense_Mutation_p.P61S|SYBU_uc010mcr.2_Missense_Mutation_p.P180S|SYBU_uc003ynm.3_Missense_Mutation_p.P179S|SYBU_uc003ynn.3_Missense_Mutation_p.P179S|SYBU_uc010mcs.2_Missense_Mutation_p.P61S|SYBU_uc010mct.2_Missense_Mutation_p.P180S|SYBU_uc010mcu.2_Missense_Mutation_p.P179S|SYBU_uc003ynp.3_Missense_Mutation_p.P112S|SYBU_uc010mcv.2_Missense_Mutation_p.P180S|SYBU_uc003ynh.3_5'UTR|SYBU_uc011lhw.1_Missense_Mutation_p.P50S	p.P180S	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN			5	701	-			180			Sufficient for interaction with KIF5B.|Ser-rich.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Missense_Mutation	SNP	ENST00000422135.1	37	c.538C>T	CCDS47912.1	.	.	.	.	.	.	.	.	.	.	G	14.12	2.442082	0.43326	.	.	ENSG00000147642	ENST00000533895;ENST00000424158;ENST00000532779;ENST00000399066;ENST00000446070;ENST00000528331;ENST00000276646;ENST00000528647;ENST00000422135;ENST00000419099;ENST00000433638;ENST00000408908;ENST00000440310;ENST00000408889;ENST00000533065;ENST00000529690;ENST00000533171;ENST00000533394;ENST00000528045;ENST00000529190;ENST00000528569;ENST00000532189	.	.	.	5.82	4.94	0.65067	.	0.114828	0.64402	D	0.000012	T	0.38054	0.1026	L	0.28115	0.83	0.42943	D	0.994354	P;P;P;P;P	0.42827	0.791;0.75;0.565;0.565;0.565	B;B;B;B;B	0.41440	0.181;0.357;0.112;0.181;0.181	T	0.09143	-1.0688	9	0.23302	T	0.38	-23.1806	9.6872	0.40105	0.1517:0.0:0.8483:0.0	.	50;112;179;180;177	B7Z4D2;Q9NX95-2;Q9NX95-3;Q9NX95;Q9NX95-4	.;.;.;SYBU_HUMAN;.	S	179;185;112;177;179;61;180;179;180;179;180;180;180;61;61;50;180;17;61;179;61;61	.	ENSP00000276646:P180S	P	-	1	0	SYBU	110661400	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.281000	0.43452	2.756000	0.94617	0.561000	0.74099	CCT		0.483	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		28	164	0	0	0	0	28	164				
KIAA0196	9897	broad.mit.edu	37	8	126051188	126051188	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:126051188C>G	ENST00000318410.7	-	25	3317	c.2968G>C	c.(2968-2970)Gac>Cac	p.D990H	KIAA0196_ENST00000517845.1_Missense_Mutation_p.D842H|KIAA0196-AS1_ENST00000519140.1_RNA	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	990					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			GCTTCAATGTCTGCTAGGAGA	0.398																																						uc003yrt.2		NA																	0				ovary(2)	2						c.(2968-2970)GAC>CAC		strumpellin							121.0	127.0	125.0					8																	126051188		2203	4300	6503	SO:0001583	missense	9897				cell death	WASH complex		g.chr8:126051188C>G		CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.2968G>C	8.37:g.126051188C>G	ENSP00000318016:p.Asp990His					KIAA0196_uc011lir.1_Missense_Mutation_p.D842H|KIAA0196_uc003yru.1_Missense_Mutation_p.D564H	p.D990H	NM_014846	NP_055661	Q12768	STRUM_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		25	3297	-	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		990					A8K4R7|Q3KQX5|Q8TBQ2	Missense_Mutation	SNP	ENST00000318410.7	37	c.2968G>C	CCDS6355.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.931711|4.931711	0.92389|0.92389	.|.	.|.	ENSG00000164961|ENSG00000164961	ENST00000318410;ENST00000517845|ENST00000523273	D;D|.	0.88509|.	-2.39;-2.39|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82287|0.82287	0.5004|0.5004	M|M	0.79805|0.79805	2.47|2.47	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.997;1.0|.	D;D|.	0.87578|.	0.93;0.998|.	T|T	0.81306|0.81306	-0.0992|-0.0992	10|5	0.87932|.	D|.	0|.	-24.5084|-24.5084	20.3207|20.3207	0.98668|0.98668	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	842;990|.	E7EQI7;Q12768|.	.;STRUM_HUMAN|.	H|H	990;842|606	ENSP00000318016:D990H;ENSP00000429676:D842H|.	ENSP00000318016:D990H|.	D|Q	-|-	1|3	0|2	KIAA0196|KIAA0196	126120370|126120370	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.995000|0.995000	0.86356|0.86356	7.814000|7.814000	0.86154|0.86154	2.813000|2.813000	0.96785|0.96785	0.561000|0.561000	0.74099|0.74099	GAC|CAG		0.398	KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846		53	149	0	0	0	0	53	149				
ZC3H3	23144	broad.mit.edu	37	8	144621295	144621295	+	Missense_Mutation	SNP	G	G	A	rs369560785		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:144621295G>A	ENST00000262577.5	-	2	273	c.242C>T	c.(241-243)cCg>cTg	p.P81L	RP11-661A12.5_ENST00000530600.1_RNA|7SK_ENST00000517300.1_RNA	NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	81					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.P81Q(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TGAGGGTCCCGGGGGCCGATT	0.667																																						uc003yyd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(241-243)CCG>CTG		zinc finger CCCH-type containing 3		G	LEU/PRO	0,4406		0,0,2203	59.0	57.0	58.0		242	1.8	0.0	8		58	1,8593		0,1,4296	no	missense	ZC3H3	NM_015117.2	98	0,1,6499	AA,AG,GG		0.0116,0.0,0.0077	benign	81/949	144621295	1,12999	2203	4297	6500	SO:0001583	missense	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144621295G>A	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.242C>T	8.37:g.144621295G>A	ENSP00000262577:p.Pro81Leu						p.P81L	NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	271	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		81					Q14163|Q8N4E2|Q9BUS4	Missense_Mutation	SNP	ENST00000262577.5	37	c.242C>T	CCDS6402.1	.	.	.	.	.	.	.	.	.	.	G	2.161	-0.392116	0.04932	0.0	1.16E-4	ENSG00000014164	ENST00000262577	T	0.41758	0.99	4.67	1.76	0.24704	.	1.118730	0.06721	N	0.774966	T	0.24812	0.0602	N	0.17474	0.49	0.09310	N	1	B	0.18310	0.027	B	0.09377	0.004	T	0.25222	-1.0138	10	0.13470	T	0.59	.	7.115	0.25411	0.3012:0.0:0.6988:0.0	.	81	Q8IXZ2	ZC3H3_HUMAN	L	81	ENSP00000262577:P81L	ENSP00000262577:P81L	P	-	2	0	ZC3H3	144692438	0.020000	0.18652	0.003000	0.11579	0.666000	0.39218	0.484000	0.22308	0.043000	0.15746	0.561000	0.74099	CCG		0.667	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	NM_015117		36	114	0	0	0	0	36	114				
ZNF707	286075	broad.mit.edu	37	8	144776617	144776617	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:144776617G>A	ENST00000532205.1	+	8	1932	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000532158.1_Missense_Mutation_p.E345K|ZNF707_ENST00000454097.1_Missense_Mutation_p.E345K|ZNF707_ENST00000358656.4_Missense_Mutation_p.E345K|ZNF707_ENST00000418203.2_Missense_Mutation_p.E345K			Q96C28	ZN707_HUMAN	zinc finger protein 707	345					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGGTTCTACGAGTGCGGCCA	0.647																																						uc003yze.3		NA																	0				breast(1)	1						c.(1033-1035)GAG>AAG		zinc finger protein 707							27.0	33.0	31.0					8																	144776617		2118	4248	6366	SO:0001583	missense	286075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr8:144776617G>A	AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.1033G>A	8.37:g.144776617G>A	ENSP00000436212:p.Glu345Lys					ZNF707_uc010mfh.2_Missense_Mutation_p.E345K|ZNF707_uc010mfi.2_Missense_Mutation_p.E345K|ZNF707_uc003yzf.3_Missense_Mutation_p.E345K|ZNF707_uc003yzh.3_Missense_Mutation_p.E272K|ZNF707_uc011lkq.1_RNA|BREA2_uc010mfj.1_5'Flank	p.E345K	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		7	1348	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		345			C2H2-type 7.		A8K317|B3KNY1|D3DWK7	Missense_Mutation	SNP	ENST00000532205.1	37	c.1033G>A	CCDS47932.1	.	.	.	.	.	.	.	.	.	.	G	2.820	-0.245044	0.05906	.	.	ENSG00000181135	ENST00000454097;ENST00000358656;ENST00000532158;ENST00000532205;ENST00000418203	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	2.83	-4.16	0.03869	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24967	0.0606	N	0.16166	0.38	0.09310	N	1	P;B	0.43287	0.802;0.131	B;B	0.44085	0.44;0.01	T	0.08743	-1.0707	8	.	.	.	-0.9752	0.8792	0.01230	0.3177:0.291:0.244:0.1473	.	270;345	B4DV46;Q96C28	.;ZN707_HUMAN	K	345	ENSP00000409029:E345K;ENSP00000351482:E345K;ENSP00000436250:E345K;ENSP00000436212:E345K;ENSP00000413215:E345K	.	E	+	1	0	ZNF707	144848605	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-4.602000	0.00210	-1.603000	0.01597	-1.078000	0.02229	GAG		0.647	ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831		9	26	0	0	0	0	9	26				
PLEC	5339	broad.mit.edu	37	8	145011230	145011230	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr8:145011230C>A	ENST00000322810.4	-	5	932	c.763G>T	c.(763-765)Gtg>Ttg	p.V255L	PLEC_ENST00000436759.2_Missense_Mutation_p.V145L|PLEC_ENST00000357649.2_Missense_Mutation_p.V122L|PLEC_ENST00000527096.1_Missense_Mutation_p.V145L|PLEC_ENST00000354958.2_Missense_Mutation_p.V96L|PLEC_ENST00000345136.3_Missense_Mutation_p.V118L|PLEC_ENST00000354589.3_Missense_Mutation_p.V118L|PLEC_ENST00000356346.3_Missense_Mutation_p.V104L|PLEC_ENST00000398774.2_Missense_Mutation_p.V86L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	255	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGATGTTCACCAGCTTCACC	0.642																																						uc003zaf.1		NA																	0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(763-765)GTG>TTG		plectin isoform 1							92.0	96.0	95.0					8																	145011230		2143	4280	6423	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145011230C>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.763G>T	8.37:g.145011230C>A	ENSP00000323856:p.Val255Leu					PLEC_uc003zab.1_Missense_Mutation_p.V118L|PLEC_uc003zac.1_Missense_Mutation_p.V122L|PLEC_uc003zad.2_Missense_Mutation_p.V118L|PLEC_uc003zae.1_Missense_Mutation_p.V86L|PLEC_uc003zag.1_Missense_Mutation_p.V96L|PLEC_uc003zah.2_Missense_Mutation_p.V104L|PLEC_uc003zaj.2_Missense_Mutation_p.V145L	p.V255L	NM_201380	NP_958782	Q15149	PLEC_HUMAN			5	933	-			255			CH 1.|Globular 1.|Actin-binding.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.763G>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.435123	0.83885	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096;ENST00000528025;ENST00000526416;ENST00000527816;ENST00000528131	D;D;D;D;D;D;D;D;D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63;-3.63	5.72	5.72	0.89469	Actinin-type, actin-binding, conserved site (1);Calponin homology domain (5);	0.101933	0.37304	U	0.002153	D	0.97476	0.9174	M	0.87097	2.86	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.61697	0.987;0.987;0.987;0.99;0.987;0.987;0.987;0.987	P;D;D;D;D;D;D;D	0.69307	0.893;0.937;0.937;0.963;0.937;0.937;0.937;0.937	D	0.97962	1.0338	10	0.87932	D	0	.	17.3701	0.87374	0.0:1.0:0.0:0.0	.	145;104;96;255;86;118;122;118	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	118;122;118;86;255;96;104;145;145;162;95;24;135	ENSP00000344848:V118L;ENSP00000350277:V122L;ENSP00000346602:V118L;ENSP00000381756:V86L;ENSP00000323856:V255L;ENSP00000347044:V96L;ENSP00000348702:V104L;ENSP00000388180:V145L;ENSP00000434583:V145L;ENSP00000437303:V162L;ENSP00000433557:V95L;ENSP00000434490:V24L;ENSP00000436702:V135L	ENSP00000323856:V255L	V	-	1	0	PLEC	145083218	1.000000	0.71417	1.000000	0.80357	0.731000	0.41821	7.656000	0.83736	2.713000	0.92767	0.655000	0.94253	GTG		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		50	67	1	0	1.07e-20	1.18e-20	50	67				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		5	13	0	0	0	0	5	13				
MAMDC2	256691	broad.mit.edu	37	9	72755126	72755126	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:72755126G>C	ENST00000377182.4	+	8	1677	c.1060G>C	c.(1060-1062)Gat>Cat	p.D354H	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	354	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTTTTACCAAGATAAAGAAGG	0.453																																						uc004ahm.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1060-1062)GAT>CAT		MAM domain containing 2 precursor							127.0	122.0	124.0					9																	72755126		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72755126G>C	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1060G>C	9.37:g.72755126G>C	ENSP00000366387:p.Asp354His					MAMDC2_uc004ahn.2_RNA	p.D354H	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN			8	1677	+			354			MAM 3.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1060G>C	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978481	0.92982	.	.	ENSG00000165072	ENST00000377182	T	0.02525	4.26	6.02	6.02	0.97574	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.137235	0.64402	D	0.000003	T	0.16599	0.0399	M	0.84219	2.685	0.58432	D	0.999996	P	0.50943	0.94	P	0.58391	0.838	T	0.00006	-1.2508	10	0.62326	D	0.03	-25.9825	20.5407	0.99260	0.0:0.0:1.0:0.0	.	354	Q7Z304	MAMC2_HUMAN	H	354	ENSP00000366387:D354H	ENSP00000366387:D354H	D	+	1	0	MAMDC2	71944946	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.183000	0.72002	2.865000	0.98341	0.655000	0.94253	GAT		0.453	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		28	115	0	0	0	0	28	115				
MAMDC2	256691	broad.mit.edu	37	9	72758548	72758548	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:72758548G>C	ENST00000377182.4	+	9	1834	c.1217G>C	c.(1216-1218)gGa>gCa	p.G406A	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	406	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TCCCTACCAGGAAACTTGCAG	0.423																																						uc004ahm.2		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(1216-1218)GGA>GCA		MAM domain containing 2 precursor							106.0	95.0	99.0					9																	72758548		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72758548G>C	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1217G>C	9.37:g.72758548G>C	ENSP00000366387:p.Gly406Ala					MAMDC2_uc004ahn.2_RNA	p.G406A	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN			9	1834	+			406			MAM 3.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1217G>C	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169336	0.78339	.	.	ENSG00000165072	ENST00000377182	T	0.01871	4.59	5.91	5.91	0.95273	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.000000	0.85682	D	0.000000	T	0.07369	0.0186	L	0.37750	1.13	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.50303	-0.8844	10	0.06757	T	0.87	-17.457	20.2857	0.98533	0.0:0.0:1.0:0.0	.	406	Q7Z304	MAMC2_HUMAN	A	406	ENSP00000366387:G406A	ENSP00000366387:G406A	G	+	2	0	MAMDC2	71948368	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	8.585000	0.90802	2.803000	0.96430	0.650000	0.86243	GGA		0.423	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267		24	82	0	0	0	0	24	82				
SECISBP2	79048	broad.mit.edu	37	9	91973689	91973689	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:91973689G>A	ENST00000375807.3	+	17	2586	c.2515G>A	c.(2515-2517)Gaa>Aaa	p.E839K	SECISBP2_ENST00000534113.2_Missense_Mutation_p.E771K|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E766K|SEMA4D_ENST00000469653.1_5'Flank	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	839					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCTGGAGCTAGAAGAATCCTT	0.413																																						uc004aqj.1		NA																	0				ovary(2)|skin(1)	3						c.(2515-2517)GAA>AAA		SECIS binding protein 2							112.0	107.0	109.0					9																	91973689		2203	4300	6503	SO:0001583	missense	79048				translation	nucleus	mRNA 3'-UTR binding	g.chr9:91973689G>A	AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2515G>A	9.37:g.91973689G>A	ENSP00000364965:p.Glu839Lys					SECISBP2_uc011ltk.1_Missense_Mutation_p.E838K|SECISBP2_uc004aqk.1_Missense_Mutation_p.E766K|SECISBP2_uc010mqo.1_Missense_Mutation_p.E544K|SECISBP2_uc011ltl.1_Missense_Mutation_p.E771K	p.E839K	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN			17	2595	+			839					F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	ENST00000375807.3	37	c.2515G>A	CCDS6683.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.411802	0.42817	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	D;D;D	0.83837	-1.69;-1.77;-1.74	4.44	3.54	0.40534	.	0.284658	0.33895	N	0.004446	D	0.88676	0.6501	M	0.66939	2.045	0.26189	N	0.979612	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.85130	0.985;0.997;0.994	T	0.80997	-0.1132	10	0.59425	D	0.04	-15.875	11.2482	0.49008	0.0909:0.0:0.9091:0.0	.	846;766;839	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	K	839;845;766;771	ENSP00000364965:E839K;ENSP00000364959:E766K;ENSP00000436650:E771K	ENSP00000364959:E766K	E	+	1	0	SECISBP2	91163509	0.998000	0.40836	0.050000	0.19076	0.069000	0.16628	5.415000	0.66411	1.211000	0.43351	0.655000	0.94253	GAA		0.413	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052990.3	NM_024077		7	41	0	0	0	0	7	41				
WNK2	65268	broad.mit.edu	37	9	96054670	96054670	+	Missense_Mutation	SNP	G	G	A	rs140544829		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:96054670G>A	ENST00000297954.4	+	22	5128	c.5128G>A	c.(5128-5130)Gtc>Atc	p.V1710I	WNK2_ENST00000395477.2_Missense_Mutation_p.V1673I|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.V1285I|WNK2_ENST00000356055.3_Missense_Mutation_p.V37I|WNK2_ENST00000349097.3_Missense_Mutation_p.V1322I	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1710					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						GGTCCCCAGCGTCCCCCAGGT	0.562																																						uc004ati.1		NA																	0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(5128-5130)GTC>ATC		WNK lysine deficient protein kinase 2		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	158.0	149.0	152.0		5017	0.4	0.0	9	dbSNP_134	152	0,8600		0,0,4300	yes	missense	WNK2	NM_006648.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1673/2218	96054670	1,13005	2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96054670G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.5128G>A	9.37:g.96054670G>A	ENSP00000297954:p.Val1710Ile					WNK2_uc011lud.1_Missense_Mutation_p.V1673I|WNK2_uc004atj.2_Missense_Mutation_p.V1673I|WNK2_uc004atk.2_Missense_Mutation_p.V1310I|WNK2_uc004atl.1_Missense_Mutation_p.V267I	p.V1710I	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			22	5128	+			1710					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.5128G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.434|6.434	0.448121|0.448121	0.12223|0.12223	2.27E-4|2.27E-4	0.0|0.0	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277;ENST00000356055	.|T;T;T;T;D	.|0.83075	.|-0.41;-0.39;0.2;0.2;-1.68	4.38|4.38	0.433|0.433	0.16534|0.16534	.|.	.|0.743026	.|0.12564	.|N	.|0.457934	T|T	0.66636|0.66636	0.2809|0.2809	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.33940	.|0.412;0.36;0.043;0.433;0.36	.|B;B;B;B;B	.|0.24974	.|0.057;0.018;0.004;0.044;0.027	T|T	0.54255|0.54255	-0.8321|-0.8321	5|10	.|0.38643	.|T	.|0.18	.|.	4.8785|4.8785	0.13668|0.13668	0.2678:0.3294:0.4028:0.0|0.2678:0.3294:0.4028:0.0	.|.	.|1673;1668;1276;1673;1710	.|Q9Y3S1-2;A6PVR3;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	H|I	1276|1710;1673;1322;1285;37	.|ENSP00000297954:V1710I;ENSP00000378860:V1673I;ENSP00000297876:V1322I;ENSP00000411181:V1285I;ENSP00000348347:V37I	.|ENSP00000297954:V1710I	R|V	+|+	2|1	0|0	WNK2|WNK2	95094491|95094491	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.002000|0.002000	0.02628|0.02628	-0.019000|-0.019000	0.12546|0.12546	0.223000|0.223000	0.20920|0.20920	-0.986000|-0.986000	0.02555|0.02555	CGT|GTC		0.562	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		75	93	0	0	0	0	75	93				
PTBP3	9991	broad.mit.edu	37	9	114986137	114986137	+	Silent	SNP	T	T	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:114986137T>C	ENST00000374255.2	-	15	1800	c.1653A>G	c.(1651-1653)acA>acG	p.T551T	PTBP3_ENST00000334318.6_Silent_p.T554T|PTBP3_ENST00000343327.2_Silent_p.T456T|PTBP3_ENST00000374257.1_Silent_p.T523T|PTBP3_ENST00000458258.1_Silent_p.T557T			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	551					anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AAAGTCAGATTGTAGATTTTG	0.393																																						uc004bfw.2		NA																	0				skin(1)	1						c.(1651-1653)ACA>ACG		ROD1 regulator of differentiation 1 isoform 1							114.0	116.0	115.0					9																	114986137		2203	4300	6503	SO:0001819	synonymous_variant	9991				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr9:114986137T>C	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1653A>G	9.37:g.114986137T>C						ROD1_uc004bfv.2_Silent_p.T557T|ROD1_uc004bfx.2_Silent_p.T554T|ROD1_uc011lwu.1_Silent_p.T523T|ROD1_uc004bfy.2_Silent_p.T456T|ROD1_uc004bfz.2_Intron	p.T551T	NM_005156	NP_005147	O95758	ROD1_HUMAN			15	1840	-			551					B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Silent	SNP	ENST00000374255.2	37	c.1653A>G	CCDS6784.1																																																																																				0.393	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1			68	76	0	0	0	0	68	76				
GARNL3	84253	broad.mit.edu	37	9	130111290	130111290	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:130111290G>T	ENST00000373387.4	+	17	1871	c.1519G>T	c.(1519-1521)Gat>Tat	p.D507Y	GARNL3_ENST00000435213.2_Missense_Mutation_p.D485Y|GARNL3_ENST00000314904.5_Missense_Mutation_p.D507Y	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	507	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GGTTTCCACTGATGCTGGCGT	0.502																																						uc011mae.1		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1519-1521)GAT>TAT		GTPase activating Rap/RanGAP domain-like 3							181.0	156.0	164.0					9																	130111290		2203	4300	6503	SO:0001583	missense	84253				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity	g.chr9:130111290G>T	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1519G>T	9.37:g.130111290G>T	ENSP00000362485:p.Asp507Tyr					GARNL3_uc011mad.1_Missense_Mutation_p.D485Y	p.D507Y	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN			17	1920	+			507			CNH.		B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	37	c.1519G>T	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747891	0.89663	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	T;T;T	0.06449	3.3;3.3;3.3	5.87	5.87	0.94306	Citron-like (2);	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.99;0.997	T	0.00006	-1.2509	9	.	.	.	.	19.1458	0.93467	0.0:0.0:1.0:0.0	.	507;485	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	Y	485;507;507	ENSP00000396205:D485Y;ENSP00000313970:D507Y;ENSP00000362485:D507Y	.	D	+	1	0	GARNL3	129151111	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.364000	0.97136	2.941000	0.99782	0.655000	0.94253	GAT		0.502	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293		22	71	1	0	1.55e-16	1.69e-16	22	71				
NAIF1	203245	broad.mit.edu	37	9	130828916	130828916	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:130828916G>A	ENST00000373078.4	-	1	684	c.465C>T	c.(463-465)ctC>ctT	p.L155L	NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373069.5_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	155					negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGAGGGTCCGAGGGCCACAG	0.652																																						uc004bta.2		NA																	0					0						c.(463-465)CTC>CTT		nuclear apoptosis inducing factor 1							37.0	38.0	38.0					9																	130828916		2203	4300	6503	SO:0001819	synonymous_variant	203245				apoptosis|induction of apoptosis	nucleus		g.chr9:130828916G>A	AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.465C>T	9.37:g.130828916G>A						NAIF1_uc004bsz.2_Intron|SLC25A25_uc004btb.2_5'Flank	p.L155L	NM_197956	NP_931045	Q69YI7	NAIF1_HUMAN			1	684	-			155					B3KV81|Q8WU12	Silent	SNP	ENST00000373078.4	37	c.465C>T	CCDS6889.1																																																																																				0.652	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054330.1	NM_197956		6	71	0	0	0	0	6	71				
SPTAN1	6709	broad.mit.edu	37	9	131348114	131348114	+	Missense_Mutation	SNP	G	G	A	rs375111710		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:131348114G>A	ENST00000372731.4	+	19	2758	c.2648G>A	c.(2647-2649)cGg>cAg	p.R883Q	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R883Q|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R883Q	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	883					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCCCAGCGTCGGCAGGACCTG	0.562																																					NSCLC(120;833 1744 2558 35612 37579)	uc004bvl.3		NA																	0				breast(5)|ovary(4)|pancreas(1)	10						c.(2647-2649)CGG>CAG		spectrin, alpha, non-erythrocytic 1							86.0	83.0	84.0					9																	131348114		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131348114G>A	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2648G>A	9.37:g.131348114G>A	ENSP00000361816:p.Arg883Gln					SPTAN1_uc011mbg.1_Missense_Mutation_p.R883Q|SPTAN1_uc011mbh.1_Missense_Mutation_p.R895Q|SPTAN1_uc004bvm.3_Missense_Mutation_p.R883Q|SPTAN1_uc004bvn.3_Missense_Mutation_p.R883Q	p.R883Q	NM_003127	NP_003118	Q13813	SPTA2_HUMAN			19	2761	+			883			Spectrin 9.		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.2648G>A	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072605	0.36566	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.51325	0.71;0.71;0.71	5.53	5.53	0.82687	.	0.053822	0.64402	D	0.000001	T	0.43322	0.1242	L	0.45581	1.43	0.58432	D	0.999997	P;B;P;P;P	0.39520	0.572;0.386;0.628;0.537;0.676	B;B;B;B;B	0.36030	0.151;0.146;0.216;0.064;0.19	T	0.26326	-1.0106	10	0.27785	T	0.31	.	18.8285	0.92128	0.0:0.0:1.0:0.0	.	883;883;883;883;883	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	Q	883	ENSP00000350882:R883Q;ENSP00000361816:R883Q;ENSP00000361824:R883Q	ENSP00000350882:R883Q	R	+	2	0	SPTAN1	130387935	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.547000	0.82146	2.763000	0.94921	0.563000	0.77884	CGG		0.562	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		27	83	0	0	0	0	27	83				
RAPGEF1	2889	broad.mit.edu	37	9	134501394	134501394	+	Silent	SNP	G	G	A	rs367643811		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr9:134501394G>A	ENST00000372189.3	-	10	1689	c.1566C>T	c.(1564-1566)gtC>gtT	p.V522V	RAPGEF1_ENST00000372190.3_Silent_p.V540V|RAPGEF1_ENST00000372195.1_Silent_p.V539V|RAPGEF1_ENST00000481260.1_5'Flank	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	522					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CCACAAATTCGACAGGGGCTG	0.542																																						uc004cbc.2		NA																	0				lung(3)|ovary(2)|breast(1)|skin(1)	7						c.(1564-1566)GTC>GTT		guanine nucleotide-releasing factor 2 isoform a		G	,	0,3972		0,0,1986	81.0	84.0	83.0		1566,1620	-10.1	0.0	9		83	2,8318		0,2,4158	no	coding-synonymous,coding-synonymous	RAPGEF1	NM_005312.2,NM_198679.1	,	0,2,6144	AA,AG,GG		0.024,0.0,0.0163	,	522/1078,540/1096	134501394	2,12290	1986	4160	6146	SO:0001819	synonymous_variant	2889				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr9:134501394G>A	BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1566C>T	9.37:g.134501394G>A						RAPGEF1_uc004cbb.2_Silent_p.V540V|RAPGEF1_uc010mzm.2_RNA|RAPGEF1_uc010mzn.2_Silent_p.V527V|RAPGEF1_uc004cbd.2_Silent_p.V527V	p.V522V	NM_005312	NP_005303	Q13905	RPGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)	10	1696	-		Myeloproliferative disorder(178;0.204)	522					Q5JUE4|Q8IV73	Silent	SNP	ENST00000372189.3	37	c.1566C>T	CCDS48047.1																																																																																				0.542	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054759.2	NM_005312		18	59	0	0	0	0	18	59				
ARSD	414	broad.mit.edu	37	X	2838724	2838724	+	Silent	SNP	G	G	A	rs201773531		TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:2838724G>A	ENST00000381154.1	-	4	432	c.357C>T	c.(355-357)aaC>aaT	p.N119N	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	119					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGAGCCTGCGTTCCACTGAA	0.527																																						uc004cqy.2		NA																	0					0						c.(355-357)AAC>AAT		arylsulfatase D isoform a precursor							77.0	62.0	68.0					X																	2838724		2203	4300	6503	SO:0001819	synonymous_variant	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2838724G>A	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.357C>T	X.37:g.2838724G>A						ARSD_uc004cqz.1_Intron|ARSD_uc004cra.1_Silent_p.N119N|ARSD_uc004crb.3_Silent_p.N119N	p.N119N	NM_001669	NP_001660	P51689	ARSD_HUMAN			4	433	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	119					Q9UHJ8	Silent	SNP	ENST00000381154.1	37	c.357C>T	CCDS35196.1																																																																																				0.527	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1			18	17	0	0	0	0	18	17				
GPKOW	27238	broad.mit.edu	37	X	48979986	48979986	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:48979986C>G	ENST00000156109.5	-	1	165	c.87G>C	c.(85-87)cgG>cgC	p.R29R		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	29						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						CCAGCCGCCTCCGTGCGGACG	0.622																																						uc004dmr.2		NA																	0				ovary(2)	2						c.(85-87)CGG>CGC		G patch domain and KOW motifs							24.0	22.0	23.0					X																	48979986		2203	4299	6502	SO:0001819	synonymous_variant	27238					nucleus	nucleic acid binding	g.chrX:48979986C>G	U66359	CCDS35251.1	Xp11.23	2013-01-28			ENSG00000068394	ENSG00000068394		"""G patch domain containing"""	30677	protein-coding gene	gene with protein product	"""G patch domain containing 5"""					21880142, 22365833	Standard	NM_015698		Approved	T54, GPATC5, GPATCH5, Spp2	uc004dmr.3	Q92917	OTTHUMG00000021511	ENST00000156109.5:c.87G>C	X.37:g.48979986C>G							p.R29R	NM_015698	NP_056513	Q92917	GPKOW_HUMAN			1	94	-			29					Q59EK5|Q9BQA8	Silent	SNP	ENST00000156109.5	37	c.87G>C	CCDS35251.1																																																																																				0.622	GPKOW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056535.2	NM_015698		6	6	0	0	0	0	6	6				
PGK1	5230	broad.mit.edu	37	X	77365367	77365367	+	Silent	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:77365367C>G	ENST00000373316.4	+	2	236	c.69C>G	c.(67-69)gtC>gtG	p.V23V	PGK1_ENST00000537456.1_5'UTR|PGK1_ENST00000442431.1_Silent_p.V23V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	23					carbohydrate metabolic process (GO:0005975)|epithelial cell differentiation (GO:0030855)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24					Lamivudine(DB00709)	TTTTTAGAGTCGACTTCAATG	0.383																																						uc004ecz.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(67-69)GTC>GTG		phosphoglycerate kinase 1							174.0	140.0	152.0					X																	77365367		2203	4296	6499	SO:0001819	synonymous_variant	5230				gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	g.chrX:77365367C>G	L00159	CCDS14438.1	Xq13.3	2011-03-17			ENSG00000102144	ENSG00000102144	2.7.2.3		8896	protein-coding gene	gene with protein product		311800				6188151, 6099325	Standard	NM_000291		Approved		uc004ecz.4	P00558	OTTHUMG00000021888	ENST00000373316.4:c.69C>G	X.37:g.77365367C>G						PGK1_uc010nlz.2_RNA|PGK1_uc011mqq.1_5'UTR	p.V23V	NM_000291	NP_000282	P00558	PGK1_HUMAN			2	241	+			23					A8K4W6|B7Z7A9|Q5J7W1|Q6IBT6|Q8NI87	Silent	SNP	ENST00000373316.4	37	c.69C>G	CCDS14438.1																																																																																				0.383	PGK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057310.1			29	47	0	0	0	0	29	47				
DIAPH2	1730	broad.mit.edu	37	X	95993660	95993660	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:95993660C>G	ENST00000324765.8	+	3	588	c.241C>G	c.(241-243)Caa>Gaa	p.Q81E	DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q81E|DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q81E|DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q70E|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q81E			O60879	DIAP2_HUMAN	diaphanous-related formin 2	81					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TATTGATTCTCAAGTCGCGAT	0.323																																						uc004efu.3		NA																	0				ovary(3)|lung(1)	4						c.(241-243)CAA>GAA		diaphanous 2 isoform 156							71.0	64.0	66.0					X																	95993660		2202	4300	6502	SO:0001583	missense	1730				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	g.chrX:95993660C>G	Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.241C>G	X.37:g.95993660C>G	ENSP00000321348:p.Gln81Glu					DIAPH2_uc004eft.3_Missense_Mutation_p.Q81E|DIAPH2_uc004efs.2_Missense_Mutation_p.Q81E	p.Q81E	NM_006729	NP_006720	O60879	DIAP2_HUMAN			3	637	+			81					A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	ENST00000324765.8	37	c.241C>G	CCDS14467.1	.	.	.	.	.	.	.	.	.	.	C	15.54	2.863767	0.51482	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	T;T;T;T;T	0.80994	-1.44;-1.43;-1.38;-1.38;-1.44	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000017	T	0.74374	0.3708	L	0.40543	1.245	0.34328	D	0.687392	B;P;P	0.49447	0.434;0.891;0.924	B;B;B	0.41271	0.153;0.352;0.339	T	0.77993	-0.2378	10	0.18710	T	0.47	.	18.2709	0.90068	0.0:1.0:0.0:0.0	.	81;81;81	O60879;O60879-2;B7ZLJ0	DIAP2_HUMAN;.;.	E	81;70;81;81;81;81	ENSP00000362152:Q81E;ENSP00000362145:Q70E;ENSP00000348082:Q81E;ENSP00000362140:Q81E;ENSP00000321348:Q81E	ENSP00000321348:Q81E	Q	+	1	0	DIAPH2	95880316	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	4.293000	0.59037	2.353000	0.79882	0.600000	0.82982	CAA		0.323	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058871.2	NM_006729, NM_007309		20	28	0	0	0	0	20	28				
NUP62CL	54830	broad.mit.edu	37	X	106391016	106391016	+	Silent	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:106391016C>T	ENST00000372466.4	-	8	805	c.554G>A	c.(553-555)tGa>tAa	p.*185*	NUP62CL_ENST00000372461.3_3'UTR	NM_017681.2	NP_060151.2	Q9H1M0	N62CL_HUMAN	nucleoporin 62kDa C-terminal like	0					protein transport (GO:0015031)	nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			lung(4)	4						TATGGGCATTCAGAATTCTGC	0.358																																						uc004ena.2		NA																	0					0						c.(553-555)TGA>TAA		nucleoporin 62kDa C-terminal like							86.0	79.0	82.0					X																	106391016		2202	4300	6502	SO:0001819	synonymous_variant	54830				protein transport	nuclear pore	structural constituent of nuclear pore	g.chrX:106391016C>T	AK000137	CCDS14527.1	Xq22.3	2008-02-05			ENSG00000198088	ENSG00000198088			25960	protein-coding gene	gene with protein product						12477932	Standard	NM_017681		Approved	FLJ20130	uc004ena.3	Q9H1M0	OTTHUMG00000022159	ENST00000372466.4:c.554G>A	X.37:g.106391016C>T						NUP62CL_uc004enb.2_RNA	p.*185*	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN			8	813	-			185					D3DUX4|Q8WVL6|Q9NXP2	Silent	SNP	ENST00000372466.4	37	c.554G>A	CCDS14527.1	.	.	.	.	.	.	.	.	.	.	C	0.054	-1.241829	0.01493	.	.	ENSG00000198088	ENST00000432145	.	.	.	4.66	1.73	0.24493	.	.	.	.	.	T	0.55146	0.1902	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43228	-0.9404	4	.	.	.	-0.0624	7.6752	0.28481	0.0:0.4248:0.4778:0.0974	.	.	.	.	K	154	.	.	E	-	1	0	NUP62CL	106277672	1.000000	0.71417	0.241000	0.24154	0.090000	0.18270	1.300000	0.33436	0.015000	0.14971	-0.558000	0.04189	GAA		0.358	NUP62CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057828.1	NM_017681		39	48	0	0	0	0	39	48				
DCAF12L1	139170	broad.mit.edu	37	X	125685629	125685629	+	Silent	SNP	G	G	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:125685629G>A	ENST00000371126.1	-	1	1205	c.963C>T	c.(961-963)taC>taT	p.Y321Y		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	321								p.Y321Y(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGCCCACGGCGTACACAGACA	0.597																																						uc004eul.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)	skin(3)|ovary(1)	4						c.(961-963)TAC>TAT		DDB1 and CUL4 associated factor 12-like 1							64.0	57.0	60.0					X																	125685629		2203	4300	6503	SO:0001819	synonymous_variant	139170							g.chrX:125685629G>A	BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.963C>T	X.37:g.125685629G>A							p.Y321Y	NM_178470	NP_848565	Q5VU92	DC121_HUMAN			1	1214	-			321					Q8IYK3	Silent	SNP	ENST00000371126.1	37	c.963C>T	CCDS14610.1																																																																																				0.597	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058186.1	NM_178470		14	29	0	0	0	0	14	29				
OCRL	4952	broad.mit.edu	37	X	128710497	128710497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chrX:128710497C>T	ENST00000371113.4	+	18	2248	c.2083C>T	c.(2083-2085)Cga>Tga	p.R695*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.R695*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	695					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AAGACCAATCCGAGAAGTTCC	0.403																																						uc004euq.2		NA																	0				lung(2)|ovary(1)|kidney(1)	4	GRCh37	CM983299	OCRL	M		c.(2083-2085)CGA>TGA		phosphatidylinositol polyphosphate 5-phosphatase							115.0	99.0	104.0					X																	128710497		2203	4300	6503	SO:0001587	stop_gained	4952				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chrX:128710497C>T	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2083C>T	X.37:g.128710497C>T	ENSP00000360154:p.Arg695*					OCRL_uc004eur.2_Nonsense_Mutation_p.R695*	p.R695*	NM_000276	NP_000267	Q01968	OCRL_HUMAN			18	2248	+			695					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Nonsense_Mutation	SNP	ENST00000371113.4	37	c.2083C>T	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	40	8.294464	0.98747	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	.	.	.	5.96	1.96	0.26148	.	0.125962	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4852	0.67611	0.4954:0.5046:0.0:0.0	.	.	.	.	X	695	.	ENSP00000349635:R695X	R	+	1	2	OCRL	128538178	0.999000	0.42202	0.982000	0.44146	0.980000	0.70556	0.979000	0.29500	0.223000	0.20920	0.538000	0.68166	CGA		0.403	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276		12	22	0	0	0	0	12	22				
GPR19	2842	broad.mit.edu	37	12	12814274	12814274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr12:12814274delT	ENST00000540510.1	-	2	1301	c.1109delA	c.(1108-1110)aacfs	p.N370fs	GPR19_ENST00000332427.2_Frame_Shift_Del_p.N370fs			P46093	GPR4_HUMAN	G protein-coupled receptor 19	332					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		GCCAACGTAGTTTTTTTTGGC	0.398																																						uc001rar.3		NA																	0				ovary(1)	1						c.(1108-1110)AACfs		G protein-coupled receptor 19							195.0	181.0	186.0					12																	12814274		2203	4300	6503	SO:0001589	frameshift_variant	2842					integral to plasma membrane	G-protein coupled receptor activity	g.chr12:12814274delT		CCDS8652.1	12p12.3	2014-01-30				ENSG00000183150		"""GPCR / Class A : Orphans"""	4473	protein-coding gene	gene with protein product		602927					Standard	NM_006143		Approved		uc001raq.2	Q15760		ENST00000540510.1:c.1109delA	12.37:g.12814274delT	ENSP00000441832:p.Asn370fs					GPR19_uc001raq.2_Frame_Shift_Del_p.N370fs	p.N370fs	NM_006143	NP_006134	Q15760	GPR19_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.048)	2	1302	-		Prostate(47;0.0802)	370			Cytoplasmic (Potential).		A8K3T3|B0M0K1|Q6NWM4	Frame_Shift_Del	DEL	ENST00000540510.1	37	c.1109delA	CCDS8652.1																																																																																				0.398	GPR19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400662.1	NM_006143		8	203	NA	NA	NA	NA	8	203	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179599162	179599166	+	Frame_Shift_Del	DEL	ACAAG	ACAAG	-			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr2:179599162_179599166delACAAG	ENST00000591111.1	-	50	14658_14662	c.14434_14438delCTTGT	c.(14434-14439)cttgtgfs	p.LV4812fs	TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.LV3885fs|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.LV5129fs|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12193	Ig-like 28.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCAGACACACAAGAGACTTCTGA	0.395																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11653-11658)CTTGTGfs		titin isoform N2-A																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179599162_179599166delACAAG	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14434_14438delCTTGT	2.37:g.179599162_179599166delACAAG	ENSP00000465570:p.Leu4812fs					TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.L546fs	p.L3885fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		49	11877_11881	-			4812_4813					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37	c.11653_11657delCTTGT																																																																																					0.395	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	234	NA	NA	NA	NA	33	234	---	---	---	---
LSS	4047	broad.mit.edu	37	21	47626622	47626623	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr21:47626622_47626623insC	ENST00000397728.3	-	16	1605_1606	c.1527_1528insG	c.(1525-1530)gggcacfs	p.H510fs	LSS_ENST00000522411.1_Frame_Shift_Ins_p.H499fs|LSS_ENST00000457828.2_Frame_Shift_Ins_p.H430fs|LSS_ENST00000356396.4_Frame_Shift_Ins_p.H510fs	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	510					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	endoplasmic reticulum membrane (GO:0005789)|lipid particle (GO:0005811)|membrane (GO:0016020)	lanosterol synthase activity (GO:0000250)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					TCCAGCAAGTGCCCCCCACGCT	0.599																																					Pancreas(114;955 2313 34923 50507)	uc002zij.2		NA																	0					0						c.(1525-1530)GGGCACfs		lanosterol synthase isoform 1																																				SO:0001589	frameshift_variant	4047				cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity	g.chr21:47626622_47626623insC	U22526	CCDS13733.1, CCDS46654.1, CCDS54489.1	21q22.3	1998-05-07			ENSG00000160285	ENSG00000160285	5.4.99.7		6708	protein-coding gene	gene with protein product		600909				7639730, 8655142	Standard	NM_001001438		Approved	OSC	uc002zij.3	P48449	OTTHUMG00000090633	ENST00000397728.3:c.1528dupG	21.37:g.47626628_47626628dupC	ENSP00000380837:p.His510fs					LSS_uc011afv.1_Frame_Shift_Ins_p.G498fs|LSS_uc002zil.2_Frame_Shift_Ins_p.G509fs|LSS_uc002zik.2_Frame_Shift_Ins_p.G429fs	p.G509fs	NM_001001438	NP_001001438	P48449	ERG7_HUMAN			16	1606_1607	-	Breast(49;0.214)		509_510			PFTB 2.		B4DJZ9|D3DSN0|E9PEI9|G5E9Q9|Q8IYL6|Q9UEZ1	Frame_Shift_Ins	INS	ENST00000397728.3	37	c.1527_1528insG	CCDS13733.1																																																																																				0.599	LSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207274.2			24	56	NA	NA	NA	NA	24	56	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113377167	113377168	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr3:113377167_113377168insA	ENST00000478658.1	-	5	3378_3379	c.3361_3362insT	c.(3361-3363)tgtfs	p.C1121fs	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Frame_Shift_Ins_p.C1121fs			Q68DE3	K2018_HUMAN	KIAA2018	1121						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACAGCTGTCACATGTATTAGTT	0.455																																						uc003eam.2		NA																	0				skin(2)|ovary(1)	3						c.(3361-3363)TGTfs		hypothetical protein LOC205717																																				SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377167_113377168insA	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.3362dupT	3.37:g.113377168_113377168dupA	ENSP00000420721:p.Cys1121fs					KIAA2018_uc003eal.2_Frame_Shift_Ins_p.C1065fs	p.C1121fs	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	3772_3773	-			1121					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Ins	INS	ENST00000478658.1	37	c.3361_3362insT	CCDS43133.1																																																																																				0.455	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		41	163	NA	NA	NA	NA	41	163	---	---	---	---
BTNL8	79908	broad.mit.edu	37	5	180375376	180375379	+	Splice_Site	DEL	GTAA	GTAA	-	rs576733269|rs367749603	byFrequency	TCGA-CQ-5326-01A-01D-1870-08	TCGA-CQ-5326-10A-01D-1870-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	199249f9-808d-4565-bb6b-82724f61edaa	1e880285-c636-4204-87bc-1e9d0bb69355	g.chr5:180375376_180375379delGTAA	ENST00000340184.4	+	5	1014		c.e5+1		BTNL8_ENST00000533815.2_Splice_Site|BTNL8_ENST00000511704.1_Splice_Site|BTNL8_ENST00000400707.3_Splice_Site|BTNL8_ENST00000505126.1_Splice_Site|BTNL8_ENST00000231229.4_Splice_Site|BTNL8_ENST00000508408.1_Intron	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8						immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.?(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGAACTGGGTAAGTATGTGTCA	0.554														173	0.0345447	0.0083	0.085	5008	,	,		17128	0.0397		0.0577	False		,,,				2504	0.0051					uc003mmp.2		NA																	1	Unknown(1)		prostate(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.e5+1		butyrophilin-like 8 isoform 2 precursor			,,,,,	13,4195		6,1,2097					,,,,,	-3.0	0.0		dbSNP_119	331	108,7704		43,22,3841	no	splice-5,splice-5,splice-5,intron,splice-5,splice-5	BTNL8	NM_024850.2,NM_001159710.1,NM_001159709.1,NM_001159708.1,NM_001159707.1,NM_001040462.2	,,,,,	49,23,5938	A1A1,A1R,RR		1.3825,0.3089,1.0067	,,,,,	,,,,,		121,11899				SO:0001630	splice_region_variant	79908					integral to membrane		g.chr5:180375376_180375379delGTAA	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.808+1GTAA>-	5.37:g.180375376_180375379delGTAA						BTNL8_uc003mmq.2_Splice_Site_p.G313_splice|BTNL8_uc011dhg.1_Splice_Site_p.D145_splice|BTNL8_uc010jll.2_Intron|BTNL8_uc010jlm.2_Splice_Site_p.D154_splice|BTNL8_uc011dhh.1_Splice_Site_p.D86_splice	p.D270_splice	NM_001040462	NP_001035552	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		5	1042	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)						A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Splice_Site	DEL	ENST00000340184.4	37	c.808_splice	CCDS43413.1																																																																																				0.554	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850	Intron	4	3	NA	NA	NA	NA	4	3	---	---	---	---
