#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
GNB1	2782	broad.mit.edu	37	1	1721920	1721920	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:1721920C>T	ENST00000378609.4	-	9	944	c.613G>A	c.(613-615)Gat>Aat	p.D205N		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	205					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-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;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCTGAAGCATCACAAGCACCA	0.562																																						uc001aif.2		NaN																	0					0						c.(613-615)GAT>AAT		guanine nucleotide-binding protein, beta-1							137.0	105.0	116.0					1																	1721920		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1721920C>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.613G>A	1.37:g.1721920C>T	ENSP00000367872:p.Asp205Asn					GNB1_uc009vky.2_Missense_Mutation_p.D105N	p.D205N	NM_002074	NP_002065	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	9	945	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-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)	205			WD 4.		B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.613G>A	CCDS34.1	.	.	.	.	.	.	.	.	.	.	C	36	5.616133	0.96649	.	.	ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606	D	0.88975	-2.45	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.045321	0.85682	D	0.000000	D	0.96100	0.8729	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96991	0.9722	10	0.87932	D	0	-15.7278	18.2284	0.89926	0.0:1.0:0.0:0.0	.	205	P62873	GBB1_HUMAN	N	205;105;205	ENSP00000367872:D205N	ENSP00000367869:D205N	D	-	1	0	GNB1	1711780	1.000000	0.71417	0.749000	0.31150	0.976000	0.68499	7.586000	0.82596	2.538000	0.85594	0.655000	0.94253	GAT		0.562	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3		NM_002074		24	48	0	0	0	0.004656	0	24	48		
WRAP73	49856	broad.mit.edu	37	1	3548889	3548889	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:3548889A>G	ENST00000270708.7	-	10	1009	c.936T>C	c.(934-936)tcT>tcC	p.S312S	WRAP73_ENST00000378322.3_Silent_p.S312S	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	312						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						AGACTGGGACAGAGGCGATCT	0.537																																						uc001ako.2		NaN																	0					0						c.(934-936)TCT>TCC		WD repeat domain 8							216.0	181.0	193.0					1																	3548889		2203	4300	6503	SO:0001819	synonymous_variant	49856					centrosome	protein binding	g.chr1:3548889A>G	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.936T>C	1.37:g.3548889A>G						WDR8_uc001akn.3_Silent_p.S312S|WDR8_uc010nzi.1_3'UTR	p.S312S	NM_017818	NP_060288	Q9P2S5	WRP73_HUMAN		Epithelial(90;4.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.16e-22)|GBM - Glioblastoma multiforme(42;1.05e-14)|Colorectal(212;1.19e-05)|BRCA - Breast invasive adenocarcinoma(365;2.67e-05)|COAD - Colon adenocarcinoma(227;5.82e-05)|Kidney(185;0.000364)|KIRC - Kidney renal clear cell carcinoma(229;0.00223)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)	10	1044	-	all_cancers(77;0.0128)|all_epithelial(69;0.00526)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	312					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Silent	SNP	ENST00000270708.7	37	c.936T>C	CCDS48.1																																																																																				0.537	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1				26	86	0	0	0	0.008361	0	26	86		
CAMTA1	23261	broad.mit.edu	37	1	7806147	7806147	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:7806147A>G	ENST00000303635.7	+	18	4820	c.4613A>G	c.(4612-4614)tAc>tGc	p.Y1538C	CAMTA1_ENST00000439411.2_Missense_Mutation_p.Y1524C|CAMTA1_ENST00000476864.1_Missense_Mutation_p.Y102C	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1538					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTCCGGAAATACAAGGTAAAC	0.413			T	WWTR1	epitheliod hemangioendothelioma																																	uc001aoi.2		NaN		Dom	yes		1	1p36.31-p36.23	611501		calmodulin binding transcription activator 1			M					0				ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(4612-4614)TAC>TGC		calmodulin-binding transcription activator 1							62.0	63.0	62.0					1																	7806147		2203	4300	6503	SO:0001583	missense	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7806147A>G	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.4613A>G	1.37:g.7806147A>G	ENSP00000306522:p.Tyr1538Cys					CAMTA1_uc001aok.3_Missense_Mutation_p.Y581C|CAMTA1_uc001aoj.2_Missense_Mutation_p.Y494C|CAMTA1_uc009vmf.2_Missense_Mutation_p.Y128C	p.Y1538C	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	18	4820	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1538					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	c.4613A>G	CCDS30576.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.1|25.1	4.605300|4.605300	0.87157|0.87157	.|.	.|.	ENSG00000171735|ENSG00000171735	ENST00000495233;ENST00000490905|ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646;ENST00000476864	.|T;T;T	.|0.72505	.|-0.66;-0.66;-0.66	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85526|0.85526	0.5717|0.5717	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.996;0.999;0.995	D|D	0.87557|0.87557	0.2469|0.2469	5|10	.|0.87932	.|D	.|0	-16.8459|-16.8459	16.422|16.422	0.83766|0.83766	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|581;494;1538	.|B4DXR3;Q7Z7P1;Q9Y6Y1	.|.;.;CMTA1_HUMAN	A|C	495;104|1538;1524;581;494;102	.|ENSP00000306522:Y1538C;ENSP00000402561:Y1524C;ENSP00000452319:Y102C	.|ENSP00000306522:Y1538C	T|Y	+|+	1|2	0|0	CAMTA1|CAMTA1	7728734|7728734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.971000|0.971000	0.66376|0.66376	9.277000|9.277000	0.95755|0.95755	2.270000|2.270000	0.75569|0.75569	0.533000|0.533000	0.62120|0.62120	ACA|TAC		0.413	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3		NM_015215		22	67	0	0	0	0.002299	0	22	67		
UBE4B	10277	broad.mit.edu	37	1	10239490	10239490	+	Silent	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:10239490C>G	ENST00000253251.8	+	26	4169	c.3330C>G	c.(3328-3330)acC>acG	p.T1110T	UBE4B_ENST00000343090.6_Silent_p.T1239T|UBE4B_ENST00000377157.3_Silent_p.T998T					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGATGGACACCCTCATGACAG	0.572																																						uc001aqs.3		NaN																	0				ovary(2)|skin(2)	4						c.(3715-3717)ACC>ACG		ubiquitination factor E4B isoform 1							66.0	68.0	67.0					1																	10239490		2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10239490C>G	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.3330C>G	1.37:g.10239490C>G						UBE4B_uc001aqr.3_Silent_p.T1110T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Silent_p.T694T|UBE4B_uc001aqu.2_Silent_p.T120T	p.T1239T	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	27	4430	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-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)	1239			U-box.			Silent	SNP	ENST00000253251.8	37	c.3717C>G	CCDS110.1																																																																																				0.572	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1		NM_006048		21	109	0	0	0	0.001882	0	21	109		
UBR4	23352	broad.mit.edu	37	1	19447716	19447716	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:19447716T>C	ENST00000375254.3	-	68	10135	c.10108A>G	c.(10108-10110)Agc>Ggc	p.S3370G	UBR4_ENST00000375218.3_5'Flank|UBR4_ENST00000375226.2_Missense_Mutation_p.S3346G|UBR4_ENST00000375217.2_Missense_Mutation_p.S3363G|UBR4_ENST00000375267.2_Missense_Mutation_p.S3370G	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3370	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTTTCTTGCTCTTTTTAGTG	0.473																																						uc001bbi.2		NaN																	0				kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(10108-10110)AGC>GGC		retinoblastoma-associated factor 600							64.0	70.0	68.0					1																	19447716		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19447716T>C	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10108A>G	1.37:g.19447716T>C	ENSP00000364403:p.Ser3370Gly					UBR4_uc001bbk.1_Missense_Mutation_p.S1017G	p.S3370G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	68	10112	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	3370			Ser-rich.		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.10108A>G	CCDS189.1	.	.	.	.	.	.	.	.	.	.	T	13.13	2.146666	0.37923	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000425413;ENST00000417040	T;T;T;T	0.24908	1.84;1.84;1.83;1.84	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.40645	0.1125	L	0.43152	1.355	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.05484	-1.0882	10	0.36615	T	0.2	.	15.2399	0.73461	0.0:0.0:0.0:1.0	.	3370	Q5T4S7	UBR4_HUMAN	G	3370;3370;3363;3346;978;2056	ENSP00000364403:S3370G;ENSP00000364416:S3370G;ENSP00000364365:S3363G;ENSP00000364374:S3346G	ENSP00000364365:S3363G	S	-	1	0	UBR4	19320303	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.698000	0.84413	2.279000	0.76181	0.533000	0.62120	AGC		0.473	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1		NM_020765		28	96	0	0	0	0.003755	0	28	96		
NBPF3	84224	broad.mit.edu	37	1	21800042	21800042	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:21800042C>A	ENST00000318249.5	+	7	1254	c.904C>A	c.(904-906)Cat>Aat	p.H302N	NBPF3_ENST00000342104.5_Missense_Mutation_p.H302N|NBPF3_ENST00000454000.2_Missense_Mutation_p.H232N|NBPF3_ENST00000318220.6_Missense_Mutation_p.H246N	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	302	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTCATCCTCTCATGATGAATG	0.448																																						uc001ber.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(904-906)CAT>AAT		neuroblastoma breakpoint family, member 3							238.0	215.0	223.0					1																	21800042		2203	4300	6503	SO:0001583	missense	84224					cytoplasm		g.chr1:21800042C>A	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.904C>A	1.37:g.21800042C>A	ENSP00000316782:p.His302Asn					NBPF3_uc001bes.2_Missense_Mutation_p.H246N|NBPF3_uc009vqb.2_Missense_Mutation_p.H302N|NBPF3_uc010odm.1_Missense_Mutation_p.H232N	p.H302N	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	7	1254	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	302			NBPF 1.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.904C>A	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	10.88	1.476372	0.26511	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000417552;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04156	3.69;3.9;3.88;3.84;3.91	0.566	0.566	0.17317	DUF1220 (1);	.	.	.	.	T	0.09555	0.0235	L	0.55990	1.75	0.09310	N	1	D;P;D	0.55605	0.972;0.905;0.971	P;B;P	0.53006	0.715;0.434;0.713	T	0.21621	-1.0240	8	0.59425	D	0.04	.	.	.	.	.	232;302;302	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	N	232;246;302;246;302;246	ENSP00000415711:H232N;ENSP00000316739:H246N;ENSP00000316782:H302N;ENSP00000340336:H302N;ENSP00000391865:H246N	ENSP00000316739:H246N	H	+	1	0	NBPF3	21672629	0.001000	0.12720	0.003000	0.11579	0.007000	0.05969	1.019000	0.30014	0.571000	0.29365	0.184000	0.17185	CAT		0.448	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_032264		81	255	1	0	3.31034e-53	0.00361	4.5162e-53	81	255		
USP48	84196	broad.mit.edu	37	1	22074634	22074634	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:22074634T>A	ENST00000308271.9	-	7	1553	c.905A>T	c.(904-906)gAc>gTc	p.D302V	USP48_ENST00000421625.2_Missense_Mutation_p.D302V|USP48_ENST00000529637.1_Missense_Mutation_p.D302V|USP48_ENST00000400301.1_Missense_Mutation_p.D302V	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	302	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CATTTACCTGTCAAAGACAAA	0.363																																						uc001bfb.2		NaN																	0				ovary(1)|lung(1)	2						c.(904-906)GAC>GTC		ubiquitin specific protease 48 isoform a							160.0	135.0	144.0					1																	22074634		2203	4300	6503	SO:0001583	missense	84196				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:22074634T>A	AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.905A>T	1.37:g.22074634T>A	ENSP00000309262:p.Asp302Val					USP48_uc010odq.1_Missense_Mutation_p.D302V|USP48_uc009vqc.2_Missense_Mutation_p.D302V|USP48_uc001bfc.2_Missense_Mutation_p.D302V|USP48_uc001bfe.1_Missense_Mutation_p.D302V|USP48_uc001bff.2_Missense_Mutation_p.D302V	p.D302V	NM_032236	NP_115612	Q86UV5	UBP48_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)	7	1143	-		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	302					B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	ENST00000308271.9	37	c.905A>T	CCDS30623.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.416016	0.83449	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000529637;ENST00000421625	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.55	5.55	0.83447	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.31327	0.0793	M	0.81341	2.54	0.80722	D	1	D;D;D;D;D;D	0.89917	0.997;0.993;0.998;1.0;0.999;1.0	D;D;D;D;D;D	0.79784	0.968;0.916;0.966;0.988;0.964;0.993	T	0.05699	-1.0869	10	0.87932	D	0	.	14.8759	0.70493	0.0:0.0:0.0:1.0	.	302;302;302;302;302;302	B7ZKS7;B7ZKS3;Q86UV5-7;Q86UV5-3;Q86UV5-2;Q86UV5	.;.;.;.;.;UBP48_HUMAN	V	302	ENSP00000383157:D302V;ENSP00000309262:D302V;ENSP00000431949:D302V;ENSP00000406256:D302V	ENSP00000309262:D302V	D	-	2	0	USP48	21947221	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.964000	0.87933	2.101000	0.63845	0.460000	0.39030	GAC		0.363	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021372.1		NM_032236		20	40	0	0	0	0.008871	0	20	40		
HSPG2	3339	broad.mit.edu	37	1	22155497	22155497	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:22155497T>A	ENST00000374695.3	-	88	12147	c.12068A>T	c.(12067-12069)aAg>aTg	p.K4023M	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4023	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GCTGCCGTCCTTGTTGAGACG	0.701																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(12067-12069)AAG>ATG		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						25.0	21.0	22.0					1																	22155497		2188	4281	6469	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22155497T>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.12068A>T	1.37:g.22155497T>A	ENSP00000363827:p.Lys4023Met					HSPG2_uc001bfi.2_Missense_Mutation_p.K40M|HSPG2_uc009vqd.2_Missense_Mutation_p.K4024M	p.K4023M	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	88	12108	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	4023			Laminin G-like 2.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.12068A>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	T	18.80	3.700662	0.68501	.	.	ENSG00000142798	ENST00000374695	T	0.77229	-1.08	5.09	5.09	0.68999	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.41294	D	0.000908	D	0.88258	0.6388	M	0.84326	2.69	0.36287	D	0.856188	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	D	0.92329	0.5872	10	0.87932	D	0	.	13.6927	0.62556	0.0:0.0:0.0:1.0	.	1963;4023	Q59EG0;P98160	.;PGBM_HUMAN	M	4023	ENSP00000363827:K4023M	ENSP00000363827:K4023M	K	-	2	0	HSPG2	22028084	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	5.558000	0.67319	1.916000	0.55485	0.379000	0.24179	AAG		0.701	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529		3	6	0	0	0	0.004672	0	3	6		
HSPG2	3339	broad.mit.edu	37	1	22169324	22169324	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:22169324C>A	ENST00000374695.3	-	67	8928	c.8849G>T	c.(8848-8850)gGg>gTg	p.G2950V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2950	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ATGGGCCTGCCCGGGCACCAC	0.657																																						uc001bfj.2		NaN																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(8848-8850)GGG>GTG		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						63.0	64.0	64.0					1																	22169324		2203	4300	6503	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22169324C>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8849G>T	1.37:g.22169324C>A	ENSP00000363827:p.Gly2950Val					HSPG2_uc009vqd.2_Missense_Mutation_p.G2951V	p.G2950V	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	67	8889	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2950			Ig-like C2-type 15.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8849G>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795828	0.70452	.	.	ENSG00000142798	ENST00000374695	T	0.16196	2.36	4.92	4.92	0.64577	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.195110	0.25154	N	0.032721	T	0.55970	0.1954	H	0.98507	4.25	0.80722	D	1	D;P	0.54397	0.966;0.938	D;D	0.67103	0.948;0.949	T	0.70321	-0.4904	10	0.87932	D	0	.	10.8237	0.46620	0.189:0.811:0.0:0.0	.	890;2950	Q59EG0;P98160	.;PGBM_HUMAN	V	2950	ENSP00000363827:G2950V	ENSP00000363827:G2950V	G	-	2	0	HSPG2	22041911	0.710000	0.27896	1.000000	0.80357	0.970000	0.65996	5.626000	0.67777	2.268000	0.75426	0.462000	0.41574	GGG		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1		NM_005529		30	98	1	0	1.13719e-10	0.008361	1.4475e-10	30	98		
MYOM3	127294	broad.mit.edu	37	1	24401849	24401849	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:24401849G>T	ENST00000374434.3	-	22	2980	c.2818C>A	c.(2818-2820)Ctg>Atg	p.L940M	MYOM3_ENST00000330966.7_Missense_Mutation_p.L941M|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000329601.7_Missense_Mutation_p.L940M|RP11-293P20.2_ENST00000439239.2_RNA	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	940						M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGGGGTCCAGTGGGCCCTTG	0.512																																						uc001bin.3		NaN																	0				skin(2)|ovary(1)	3						c.(2818-2820)CTG>ATG		myomesin family, member 3							105.0	101.0	102.0					1																	24401849		1853	4094	5947	SO:0001583	missense	127294							g.chr1:24401849G>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.2818C>A	1.37:g.24401849G>T	ENSP00000363557:p.Leu940Met					MYOM3_uc001bim.3_Missense_Mutation_p.L597M|MYOM3_uc001bio.2_Missense_Mutation_p.L940M	p.L940M	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	22	2981	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	940					A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.2818C>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762280	0.49468	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.55760	0.5;0.5;0.5	6.17	6.17	0.99709	Immunoglobulin-like fold (1);	0.296679	0.37857	N	0.001914	T	0.46737	0.1408	N	0.08118	0	0.80722	D	1	P;P	0.47604	0.898;0.681	P;B	0.49140	0.601;0.133	T	0.50524	-0.8818	10	0.48119	T	0.1	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	940;940	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	M	940;941;940	ENSP00000363557:L940M;ENSP00000332670:L941M;ENSP00000328415:L940M	ENSP00000328415:L940M	L	-	1	2	MYOM3	24274436	0.995000	0.38212	0.019000	0.16419	0.929000	0.56500	4.969000	0.63735	2.941000	0.99782	0.655000	0.94253	CTG		0.512	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2		NM_152372		53	146	1	0	3.31993e-32	0.00361	4.48219e-32	53	146		
TMEM57	55219	broad.mit.edu	37	1	25810726	25810726	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:25810726T>G	ENST00000374343.4	+	7	1453	c.1274T>G	c.(1273-1275)aTg>aGg	p.M425R	TMEM57_ENST00000399763.3_Missense_Mutation_p.M67R|TMEM57_ENST00000399766.3_Missense_Mutation_p.M198R	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	425					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTCAGAAATGGGCCAGCTT	0.572																																						uc001bkk.2		NaN																	0					0						c.(1273-1275)ATG>AGG		transmembrane protein 57							65.0	66.0	65.0					1																	25810726		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25810726T>G	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1274T>G	1.37:g.25810726T>G	ENSP00000363463:p.Met425Arg					TMEM57_uc009vru.2_Missense_Mutation_p.M198R|TMEM57_uc009vrv.2_Missense_Mutation_p.M67R	p.M425R	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	7	1476	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	425					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1274T>G	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	T	17.19	3.326844	0.60743	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	T;D;T	0.82711	2.66;-1.64;2.66	6.03	6.03	0.97812	.	0.085770	0.85682	D	0.000000	T	0.70745	0.3259	N	0.08118	0	0.44834	D	0.997841	B;P;B	0.50066	0.095;0.931;0.013	B;P;B	0.44921	0.069;0.464;0.06	T	0.75690	-0.3230	10	0.52906	T	0.07	-18.4761	11.5966	0.50977	0.0:0.0708:0.0:0.9292	.	67;198;425	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	R	198;67;425	ENSP00000382668:M198R;ENSP00000382666:M67R;ENSP00000363463:M425R	ENSP00000363463:M425R	M	+	2	0	TMEM57	25683313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.914000	0.69964	2.313000	0.78055	0.455000	0.32223	ATG		0.572	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2		NM_018202		21	94	0	0	0	0.008871	0	21	94		
DHDDS	79947	broad.mit.edu	37	1	26786621	26786621	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:26786621C>G	ENST00000236342.7	+	8	844	c.751C>G	c.(751-753)Cat>Gat	p.H251D	DHDDS_ENST00000525682.2_Missense_Mutation_p.H217D|RP3-476K8.3_ENST00000423060.1_RNA|DHDDS_ENST00000526219.1_Missense_Mutation_p.H212D|DHDDS_ENST00000360009.2_Missense_Mutation_p.H251D			Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	251					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	transferase activity, transferring alkyl or aryl (other than methyl) groups (GO:0016765)			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCAGATGAACCATAGCGTGCT	0.493																																						uc001bml.2		NaN																	0				breast(3)	3						c.(751-753)CAT>GAT		dehydrodolichyl diphosphate synthase isoform b							117.0	110.0	112.0					1																	26786621		2203	4300	6503	SO:0001583	missense	79947						protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups	g.chr1:26786621C>G	AK023164	CCDS281.1, CCDS282.1, CCDS57984.1, CCDS57983.1	1p35.3	2014-01-28			ENSG00000117682	ENSG00000117682			20603	protein-coding gene	gene with protein product		608172				12591616	Standard	NM_024887		Approved	HDS, FLJ13102, DS, RP59	uc001bmk.3	Q86SQ9	OTTHUMG00000003554	ENST00000236342.7:c.751C>G	1.37:g.26786621C>G	ENSP00000236342:p.His251Asp					DHDDS_uc001bmk.2_Missense_Mutation_p.H251D|DHDDS_uc001bmm.2_Missense_Mutation_p.H158D|DHDDS_uc001bmn.2_Missense_Mutation_p.H212D|DHDDS_uc010ofd.1_Missense_Mutation_p.H217D	p.H251D	NM_205861	NP_995583	Q86SQ9	DHDDS_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)	8	872	+		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	251					B7Z4B9|B7ZB20|D3DPK7|D3DPK8|D3DPK9|E9KL43|Q5T0A4|Q8NE90|Q9BTG5|Q9BTK3|Q9H905	Missense_Mutation	SNP	ENST00000236342.7	37	c.751C>G	CCDS282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.92|13.92	2.381076|2.381076	0.42207|0.42207	.|.	.|.	ENSG00000117682|ENSG00000117682	ENST00000374192;ENST00000525682;ENST00000236342;ENST00000526219;ENST00000360009;ENST00000430232|ENST00000416052	T;T;T;T;T|.	0.52295|.	0.67;0.67;0.67;0.67;0.67|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.189031|.	0.56097|.	D|.	0.000028|.	T|T	0.50463|0.50463	0.1617|0.1617	L|L	0.42632|0.42632	1.34|1.34	0.38036|0.38036	D|D	0.935318|0.935318	P;D;B;B|.	0.62365|.	0.647;0.991;0.013;0.03|.	B;P;B;B|.	0.53861|.	0.433;0.736;0.043;0.026|.	T|T	0.51498|0.51498	-0.8698|-0.8698	10|5	0.18710|.	T|.	0.47|.	-14.9989|-14.9989	8.0245|8.0245	0.30430|0.30430	0.0:0.825:0.0:0.175|0.0:0.825:0.0:0.175	.|.	217;212;251;251|.	B7Z4B9;Q86SQ9-3;Q86SQ9;Q86SQ9-2|.	.;.;DHDDS_HUMAN;.|.	D|R	147;217;251;212;251;212|127	ENSP00000434984:H217D;ENSP00000236342:H251D;ENSP00000434219:H212D;ENSP00000353104:H251D;ENSP00000397584:H212D|.	ENSP00000236342:H251D|.	H|P	+|+	1|2	0|0	DHDDS|DHDDS	26659208|26659208	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.921000|0.921000	0.55340|0.55340	1.709000|1.709000	0.37909|0.37909	2.623000|2.623000	0.88846|0.88846	0.561000|0.561000	0.74099|0.74099	CAT|CCA		0.493	DHDDS-011	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000392504.1		NM_024887		42	134	0	0	0	0.002222	0	42	134		
RPS6KA1	6195	broad.mit.edu	37	1	26885394	26885394	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:26885394G>T	ENST00000374168.2	+	14	1335	c.1181G>T	c.(1180-1182)cGt>cTt	p.R394L	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R403L|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R302L|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R302L|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R383L|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R378L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	394					axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGCAAGCCTCGTGCCCCGCAG	0.637																																						uc001bmr.1		NaN																	0				lung(1)	1						c.(1180-1182)CGT>CTT		ribosomal protein S6 kinase, 90kDa, polypeptide							34.0	36.0	35.0					1																	26885394		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26885394G>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1181G>T	1.37:g.26885394G>T	ENSP00000363283:p.Arg394Leu					RPS6KA1_uc010ofe.1_Missense_Mutation_p.R302L|RPS6KA1_uc010off.1_Missense_Mutation_p.R378L|RPS6KA1_uc001bms.1_Missense_Mutation_p.R403L|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R237L	p.R394L	NM_002953	NP_002944	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	14	1344	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	394					A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1181G>T	CCDS284.1	.	.	.	.	.	.	.	.	.	.	G	11.94	1.790053	0.31685	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382;ENST00000403732	T;T;T;T;T;T;T	0.69806	-0.42;-0.31;-0.43;-0.43;-0.42;-0.42;-0.18	6.08	4.22	0.49857	.	0.402653	0.27876	N	0.017492	T	0.44074	0.1276	N	0.14661	0.345	0.42132	D	0.991477	B;B;B	0.21520	0.0;0.0;0.057	B;B;B	0.17979	0.0;0.0;0.02	T	0.34354	-0.9832	10	0.30078	T	0.28	.	6.1397	0.20253	0.2822:0.0:0.7178:0.0	.	378;403;394	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	L	394;383;302;302;378;114;403;52	ENSP00000363283:R394L;ENSP00000363281:R383L;ENSP00000431651:R302L;ENSP00000363277:R302L;ENSP00000432281:R378L;ENSP00000435412:R403L;ENSP00000383967:R52L	ENSP00000363277:R302L	R	+	2	0	RPS6KA1	26757981	0.978000	0.34361	0.848000	0.33437	0.302000	0.27658	4.242000	0.58714	1.592000	0.50018	0.655000	0.94253	CGT		0.637	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1		NM_002953		24	55	1	0	4.47668e-21	0.003954	5.93084e-21	24	55		
GRIK3	2899	broad.mit.edu	37	1	37267622	37267622	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:37267622C>T	ENST00000373091.3	-	16	2606	c.2590G>A	c.(2590-2592)Gat>Aat	p.D864N		NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	864					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGGATCTCATCGGCCACGGTG	0.582																																						uc001caz.2		NaN																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2590-2592)GAT>AAT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						70.0	63.0	65.0					1																	37267622		2202	4300	6502	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37267622C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2590G>A	1.37:g.37267622C>T	ENSP00000362183:p.Asp864Asn						p.D864N	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			16	2725	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	864			Cytoplasmic (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.2590G>A	CCDS416.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501647	0.64298	.	.	ENSG00000163873	ENST00000373091	T	0.11063	2.81	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.06280	0.0162	N	0.11427	0.14	0.80722	D	1	P	0.46656	0.882	B	0.35770	0.21	T	0.48139	-0.9061	10	0.27082	T	0.32	.	18.3969	0.90502	0.0:1.0:0.0:0.0	.	864	Q13003	GRIK3_HUMAN	N	864	ENSP00000362183:D864N	ENSP00000362183:D864N	D	-	1	0	GRIK3	37040209	1.000000	0.71417	0.971000	0.41717	0.680000	0.39746	5.544000	0.67231	2.565000	0.86533	0.643000	0.83706	GAT		0.582	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1		NM_000831		12	33	0	0	0	0.001368	0	12	33		
ZC3H12A	80149	broad.mit.edu	37	1	37941247	37941247	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:37941247G>T	ENST00000373087.6	+	2	266	c.150G>T	c.(148-150)atG>atT	p.M50I	RP11-422J8.1_ENST00000424989.1_RNA	NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AACTGCAGATGAAGGTGGACT	0.622																																						uc001cbb.3		NaN																	0				ovary(2)	2						c.(148-150)ATG>ATT		zinc finger CCCH-type containing 12A							58.0	57.0	57.0					1																	37941247		2203	4300	6503	SO:0001583	missense	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37941247G>T		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.150G>T	1.37:g.37941247G>T	ENSP00000362179:p.Met50Ile						p.M50I	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN			2	300	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	50						Missense_Mutation	SNP	ENST00000373087.6	37	c.150G>T	CCDS417.1	.	.	.	.	.	.	.	.	.	.	G	16.96	3.266954	0.59540	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.22539	1.95	4.13	4.13	0.48395	.	0.146089	0.64402	D	0.000016	T	0.21227	0.0511	M	0.66939	2.045	0.41248	D	0.986694	P	0.37985	0.613	B	0.30943	0.122	T	0.08493	-1.0719	10	0.28530	T	0.3	-30.0988	14.5302	0.67920	0.0:0.0:1.0:0.0	.	50	Q5D1E8	ZC12A_HUMAN	I	50	ENSP00000362179:M50I	ENSP00000362174:M50I	M	+	3	0	ZC3H12A	37713834	1.000000	0.71417	1.000000	0.80357	0.593000	0.36681	2.496000	0.45346	2.010000	0.58986	0.655000	0.94253	ATG		0.622	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2		NM_025079		17	64	1	0	1.67942e-08	0.006122	2.09658e-08	17	64		
HEYL	26508	broad.mit.edu	37	1	40105218	40105218	+	Splice_Site	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:40105218C>G	ENST00000372852.3	-	1	399	c.80G>C	c.(79-81)aGc>aCc	p.S27T		NM_014571.3	NP_055386	Q9NQ87	HEYL_HUMAN	hes-related family bHLH transcription factor with YRPW motif-like	27					atrioventricular valve morphogenesis (GO:0003181)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac ventricle morphogenesis (GO:0003208)|cellular response to BMP stimulus (GO:0071773)|endocardial cushion morphogenesis (GO:0003203)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|glomerulus development (GO:0032835)|mesenchymal cell development (GO:0014031)|negative regulation of androgen receptor activity (GO:2000824)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|pulmonary valve morphogenesis (GO:0003184)|skeletal muscle cell differentiation (GO:0035914)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-1 domain binding (GO:0050683)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|protein heterodimerization activity (GO:0046982)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGGCCCTTACCTCAGCTGGCC	0.746																																						uc001cdp.2		NaN																	0				ovary(1)	1						c.(79-81)AGC>ACC		hairy/enhancer-of-split related with YRPW							10.0	11.0	11.0					1																	40105218		2185	4281	6466	SO:0001630	splice_region_variant	26508				multicellular organismal development|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:40105218C>G	BC006087	CCDS439.1	1p34.3	2013-10-17	2013-10-17		ENSG00000163909	ENSG00000163909		"""Basic helix-loop-helix proteins"""	4882	protein-coding gene	gene with protein product	"""hairy/enhancer-of-split related with YRPW motif 3"""	609034	"""hairy/enhancer-of-split related with YRPW motif-like"""			10415358, 10860664	Standard	NM_014571		Approved	bHLHb33, HEY3, HESR3	uc001cdp.3	Q9NQ87	OTTHUMG00000000458	ENST00000372852.3:c.80+1G>C	1.37:g.40105218C>G							p.S27T	NM_014571	NP_055386	Q9NQ87	HEYL_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1.1e-18)|Epithelial(16;2.77e-17)|all cancers(16;5.64e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		1	131	-	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	27					Q5TG99	Missense_Mutation	SNP	ENST00000372852.3	37	c.80G>C	CCDS439.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263366	0.39995	.	.	ENSG00000163909	ENST00000372852	T	0.59906	0.23	3.68	3.68	0.42216	.	0.740486	0.12987	N	0.422796	T	0.50718	0.1632	L	0.50333	1.59	0.80722	D	1	B	0.24533	0.105	B	0.26202	0.067	T	0.43750	-0.9372	9	.	.	.	-6.5286	11.1871	0.48664	0.0:1.0:0.0:0.0	.	27	Q9NQ87	HEYL_HUMAN	T	27	ENSP00000361943:S27T	.	S	-	2	0	HEYL	39877805	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	4.999000	0.63934	2.327000	0.79052	0.655000	0.94253	AGC		0.746	HEYL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001179.2		NM_014571	Missense_Mutation	5	13	0	0	0	0.000602	0	5	13		
CAP1	10487	broad.mit.edu	37	1	40525127	40525127	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:40525127A>C	ENST00000372797.3	+	2	670	c.109A>C	c.(109-111)Aaa>Caa	p.K37Q	CAP1_ENST00000372792.2_Missense_Mutation_p.K37Q|CAP1_ENST00000372805.3_Missense_Mutation_p.K37Q|CAP1_ENST00000372798.1_Missense_Mutation_p.K37Q|CAP1_ENST00000340450.3_Missense_Mutation_p.K37Q|CAP1_ENST00000372802.1_Missense_Mutation_p.K37Q	NM_001105530.1|NM_006367.3	NP_001099000|NP_006358	Q13114	TRAF3_HUMAN	CAP, adenylate cyclase-associated protein 1 (yeast)	0					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTCCTTCAAAAGGTAAGCA	0.478																																						uc001cfa.3		NaN																	0				ovary(1)	1						c.(109-111)AAA>CAA		adenylyl cyclase-associated protein							56.0	57.0	57.0					1																	40525127		1927	4132	6059	SO:0001583	missense	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40525127A>C	L12168	CCDS41309.1	1p34.3	2010-07-13			ENSG00000131236	ENSG00000131236			20040	protein-coding gene	gene with protein product						1406678, 8761950	Standard	NM_006367		Approved	CAP	uc001cey.4	Q01518	OTTHUMG00000004493	ENST00000372797.3:c.109A>C	1.37:g.40525127A>C	ENSP00000361883:p.Lys37Gln					CAP1_uc010ojd.1_RNA|CAP1_uc001cey.3_Missense_Mutation_p.K37Q|CAP1_uc001cez.3_Missense_Mutation_p.K37Q|CAP1_uc009vvz.2_Missense_Mutation_p.K37Q|CAP1_uc010oje.1_Missense_Mutation_p.Q6H	p.K37Q	NM_006367	NP_006358	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		2	338	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	37					B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Missense_Mutation	SNP	ENST00000372797.3	37	c.109A>C	CCDS41309.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.313819	0.23908	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000449311;ENST00000421589;ENST00000414893;ENST00000414281;ENST00000420216;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805;ENST00000435719;ENST00000372794;ENST00000427843;ENST00000424977;ENST00000417287;ENST00000446031	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74	5.75	4.6	0.57074	Adenylate cyclase-associated CAP, N-terminal (1);	0.336529	0.33553	N	0.004790	T	0.09069	0.0224	N	0.24115	0.695	0.26841	N	0.968366	B	0.02656	0.0	B	0.10450	0.005	T	0.31194	-0.9952	10	0.17832	T	0.49	-14.5497	10.3853	0.44136	0.6845:0.3155:0.0:0.0	.	37	Q01518	CAP1_HUMAN	Q	37;37;37;37;37;37;37;37;14;37;37;37;37;37;37;37;37;37	ENSP00000361883:K37Q;ENSP00000361888:K37Q;ENSP00000398475:K37Q;ENSP00000403198:K37Q;ENSP00000398877:K37Q;ENSP00000408561:K37Q;ENSP00000410586:K37Q;ENSP00000361878:K37Q;ENSP00000361884:K37Q;ENSP00000344832:K37Q;ENSP00000361891:K37Q;ENSP00000412859:K37Q;ENSP00000413656:K37Q;ENSP00000413383:K37Q;ENSP00000400943:K37Q;ENSP00000389974:K37Q	ENSP00000344832:K37Q	K	+	1	0	CAP1	40297714	0.936000	0.31750	0.970000	0.41538	0.832000	0.47134	1.940000	0.40223	1.078000	0.41014	0.528000	0.53228	AAA		0.478	CAP1-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000013109.1		NM_006367		19	52	0	0	0	0.006122	0	19	52		
SCMH1	22955	broad.mit.edu	37	1	41493986	41493986	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:41493986G>T	ENST00000326197.7	-	15	2162	c.1863C>A	c.(1861-1863)atC>atA	p.I621I	SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000456518.2_Silent_p.I441I|SCMH1_ENST00000361191.5_Silent_p.I538I|SCMH1_ENST00000397171.2_Silent_p.I538I|SCMH1_ENST00000337495.5_Silent_p.I609I|SCMH1_ENST00000372595.1_Silent_p.I560I|SCMH1_ENST00000397174.2_Silent_p.I579I|SCMH1_ENST00000402904.2_Silent_p.I621I|SCMH1_ENST00000372597.1_Silent_p.I552I|SCMH1_ENST00000372596.1_Silent_p.I538I|SCMH1_ENST00000361705.3_Silent_p.I552I					sex comb on midleg homolog 1 (Drosophila)											breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				CCTTGCCATCGATCTCCTGGG	0.597																																						uc001cgo.2		NaN																	0					0						c.(1861-1863)ATC>ATA		sex comb on midleg 1 isoform 1							43.0	42.0	42.0					1																	41493986		2203	4300	6503	SO:0001819	synonymous_variant	22955				anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:41493986G>T	AF149045	CCDS461.1, CCDS30688.1, CCDS53301.1, CCDS53302.1, CCDS53303.1, CCDS53304.1	1p34	2013-01-10			ENSG00000010803	ENSG00000010803		"""Sterile alpha motif (SAM) domain containing"""	19003	protein-coding gene	gene with protein product						10524249	Standard	NM_012236		Approved	Scml3	uc001cgs.3	Q96GD3	OTTHUMG00000005720	ENST00000326197.7:c.1863C>A	1.37:g.41493986G>T						SCMH1_uc010ojr.1_Silent_p.I441I|SCMH1_uc001cgp.2_Silent_p.I560I|SCMH1_uc001cgr.2_Silent_p.I538I|SCMH1_uc001cgs.2_Silent_p.I609I|SCMH1_uc001cgt.2_Silent_p.I538I|SCMH1_uc001cgq.2_Silent_p.I552I	p.I621I	NM_001031694	NP_001026864	Q96GD3	SCMH1_HUMAN			16	2174	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)	621			SAM.			Silent	SNP	ENST00000326197.7	37	c.1863C>A	CCDS30688.1																																																																																				0.597	SCMH1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015656.1				24	63	1	0	1.10923e-09	0.00278	1.39145e-09	24	63		
EBNA1BP2	10969	broad.mit.edu	37	1	43636436	43636436	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:43636436C>T	ENST00000236051.2	-	4	579	c.438G>A	c.(436-438)caG>caA	p.Q146Q	WDR65_ENST00000372492.4_5'Flank|WDR65_ENST00000528956.1_5'Flank|EBNA1BP2_ENST00000431635.2_Silent_p.Q201Q|EBNA1BP2_ENST00000472982.1_5'Flank	NM_006824.2	NP_006815.2	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	146					ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCTTCTGCATCTGCAGATCAG	0.453																																						uc001cin.2		NaN																	0					0						c.(436-438)CAG>CAA		EBNA1 binding protein 2 isoform 2							148.0	148.0	148.0					1																	43636436		2203	4300	6503	SO:0001819	synonymous_variant	10969				ribosome biogenesis	membrane fraction|nucleolus	protein binding	g.chr1:43636436C>T	U86602	CCDS478.1, CCDS53308.1	1p35-p33	2011-02-10	2001-11-28		ENSG00000117395	ENSG00000117395			15531	protein-coding gene	gene with protein product		614443	"""EBNA1-binding protein 2"""			10074103, 11438656	Standard	NM_001159936		Approved	NOBP, EBP2, P40	uc010ojx.2	Q99848	OTTHUMG00000007284	ENST00000236051.2:c.438G>A	1.37:g.43636436C>T						EBNA1BP2_uc001cio.2_Silent_p.Q201Q|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_Silent_p.Q41Q|EBNA1BP2_uc010ojx.1_Silent_p.Q201Q	p.Q146Q	NM_006824	NP_006815	Q99848	EBP2_HUMAN			4	635	-	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	146			Potential.		Q96A66	Silent	SNP	ENST00000236051.2	37	c.438G>A	CCDS478.1																																																																																				0.453	EBNA1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019015.1				48	180	0	0	0	0.00361	0	48	180		
CCDC24	149473	broad.mit.edu	37	1	44461475	44461475	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:44461475G>A	ENST00000372318.3	+	8	819	c.648G>A	c.(646-648)atG>atA	p.M216I	CCDC24_ENST00000479055.1_3'UTR|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	216										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGAAGGCCATGGAGCAGGAGC	0.557																																						uc001clj.2		NaN																	0					0						c.(646-648)ATG>ATA		coiled-coil domain containing 24							107.0	110.0	109.0					1																	44461475		2203	4300	6503	SO:0001583	missense	149473							g.chr1:44461475G>A		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.648G>A	1.37:g.44461475G>A	ENSP00000361392:p.Met216Ile					SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Missense_Mutation_p.M171I|CCDC24_uc009vxc.2_Missense_Mutation_p.M180I	p.M216I	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN			8	819	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	216			Potential.		Q6RWT2	Missense_Mutation	SNP	ENST00000372318.3	37	c.648G>A	CCDS507.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.931712	0.52866	.	.	ENSG00000159214	ENST00000372318	.	.	.	5.03	5.03	0.67393	.	0.000000	0.56097	D	0.000022	T	0.68559	0.3014	L	0.46157	1.445	0.80722	D	1	D;D	0.67145	0.996;0.996	D;D	0.76071	0.987;0.987	T	0.64339	-0.6431	9	0.28530	T	0.3	-11.3051	15.6299	0.76899	0.0:0.0:1.0:0.0	.	180;216	Q8N4L8-2;Q8N4L8	.;CCD24_HUMAN	I	216	.	ENSP00000361392:M216I	M	+	3	0	CCDC24	44234062	0.232000	0.23762	1.000000	0.80357	0.985000	0.73830	1.548000	0.36201	2.482000	0.83794	0.514000	0.50259	ATG		0.557	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1		NM_152499		45	153	0	0	0	0.00361	0	45	153		
CCDC24	149473	broad.mit.edu	37	1	44461719	44461719	+	Nonsense_Mutation	SNP	C	C	T	rs376940328		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:44461719C>T	ENST00000372318.3	+	9	982	c.811C>T	c.(811-813)Cga>Tga	p.R271*	CCDC24_ENST00000479055.1_3'UTR|SLC6A9_ENST00000372306.3_Intron|SLC6A9_ENST00000372307.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	271										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GCCCTACCTTCGACCTCGAGG	0.677																																						uc001clj.2		NaN																	0					0						c.(811-813)CGA>TGA		coiled-coil domain containing 24		C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	47.0	53.0	51.0		811	2.6	0.0	1		51	0,8600		0,0,4300	no	stop-gained	CCDC24	NM_152499.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		271/308	44461719	1,13005	2203	4300	6503	SO:0001587	stop_gained	149473							g.chr1:44461719C>T		CCDS507.1	1p34.1	2008-02-05			ENSG00000159214	ENSG00000159214			28688	protein-coding gene	gene with protein product						12477932	Standard	NM_152499		Approved	MGC45441	uc001clj.3	Q8N4L8	OTTHUMG00000008299	ENST00000372318.3:c.811C>T	1.37:g.44461719C>T	ENSP00000361392:p.Arg271*					SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc001clk.2_Silent_p.F224F|CCDC24_uc009vxc.2_Nonsense_Mutation_p.R235*	p.R271*	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN			9	982	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	271					Q6RWT2	Nonsense_Mutation	SNP	ENST00000372318.3	37	c.811C>T	CCDS507.1	.	.	.	.	.	.	.	.	.	.	C	17.61	3.432747	0.62844	2.27E-4	0.0	ENSG00000159214	ENST00000372318	.	.	.	4.62	2.64	0.31445	.	1.787500	0.04201	N	0.329994	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2147	10.041	0.42158	0.4119:0.5881:0.0:0.0	.	.	.	.	X	271	.	ENSP00000361392:R271X	R	+	1	2	CCDC24	44234306	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	-0.465000	0.06680	0.405000	0.25532	0.514000	0.50259	CGA		0.677	CCDC24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022865.1		NM_152499		44	84	0	0	0	0.002222	0	44	84		
NASP	4678	broad.mit.edu	37	1	46072194	46072194	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:46072194C>A	ENST00000350030.3	+	5	427	c.340C>A	c.(340-342)Cat>Aat	p.H114N	NASP_ENST00000351223.3_Missense_Mutation_p.H114N|NASP_ENST00000537798.1_Missense_Mutation_p.H50N|NASP_ENST00000372052.4_Missense_Mutation_p.H87N|NASP_ENST00000402363.3_Missense_Mutation_p.H116N	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	114	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GGAAGGTGTGCATGTGGAAGA	0.393																																						uc001coi.1		NaN																	0				ovary(1)	1						c.(340-342)CAT>AAT		nuclear autoantigenic sperm protein isoform 2							147.0	144.0	145.0					1																	46072194		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46072194C>A	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.340C>A	1.37:g.46072194C>A	ENSP00000255120:p.His114Asn					NASP_uc010olq.1_Missense_Mutation_p.H77N|NASP_uc001coh.1_Missense_Mutation_p.H116N|NASP_uc001coj.1_Missense_Mutation_p.H114N|NASP_uc010olr.1_Missense_Mutation_p.H50N|NASP_uc001cok.1_5'UTR	p.H114N	NM_002482	NP_002473	P49321	NASP_HUMAN			5	442	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		114			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.340C>A	CCDS524.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261135	0.80246	.	.	ENSG00000132780	ENST00000437901;ENST00000527470;ENST00000525515;ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000470768;ENST00000372052;ENST00000351223	D;D;D;D;D;D;D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44;-3.44	4.68	4.68	0.58851	.	0.121139	0.56097	D	0.000026	D	0.91975	0.7458	N	0.14661	0.345	0.42055	D	0.991139	D;D;B;P;P	0.59357	0.974;0.985;0.118;0.907;0.944	P;P;B;B;P	0.50659	0.647;0.541;0.049;0.346;0.548	D	0.93816	0.7114	10	0.87932	D	0	-8.6434	18.1422	0.89643	0.0:1.0:0.0:0.0	.	50;114;114;114;116	F5H3J2;Q53H03;Q5T626;P49321;P49321-3	.;.;.;NASP_HUMAN;.	N	114;50;98;50;116;14;50;114;77;87;114	ENSP00000400792:H114N;ENSP00000437241:H50N;ENSP00000436939:H98N;ENSP00000438871:H50N;ENSP00000384529:H116N;ENSP00000432289:H50N;ENSP00000255120:H114N;ENSP00000436924:H77N;ENSP00000361122:H87N;ENSP00000255121:H114N	ENSP00000345532:H14N	H	+	1	0	NASP	45844781	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.633000	0.83260	2.599000	0.87857	0.650000	0.86243	CAT		0.393	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2		NM_002482		22	62	1	0	1.36565e-18	0.00278	1.79399e-18	22	62		
ELAVL4	1996	broad.mit.edu	37	1	50661283	50661283	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:50661283G>A	ENST00000371823.4	+	5	783	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	ELAVL4_ENST00000448907.2_Missense_Mutation_p.E190K|ELAVL4_ENST00000371827.1_Missense_Mutation_p.E187K|ELAVL4_ENST00000371824.1_Missense_Mutation_p.E187K|ELAVL4_ENST00000371819.1_Missense_Mutation_p.E192K|ELAVL4_ENST00000371821.1_Missense_Mutation_p.E192K|ELAVL4_ENST00000357083.4_Missense_Mutation_p.E204K	NM_001144774.1|NM_021952.3	NP_001138246.1|NP_068771.2	P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	187	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA processing (GO:0006396)		AU-rich element binding (GO:0017091)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GATTGAGGCAGAAGAAGCCAT	0.522																																						uc001csb.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(559-561)GAA>AAA		ELAV-like 4 isoform 1							103.0	107.0	105.0					1																	50661283		2203	4300	6503	SO:0001583	missense	1996				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	g.chr1:50661283G>A	AY033998	CCDS553.1, CCDS44138.1, CCDS44139.1, CCDS44140.1, CCDS53315.1, CCDS72788.1	1p34	2013-10-03	2013-10-03		ENSG00000162374	ENSG00000162374		"""RNA binding motif (RRM) containing"""	3315	protein-coding gene	gene with protein product	"""Hu antigen D"""	168360	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D)"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4"""	HUD		8222755	Standard	XM_005270581		Approved	PNEM	uc001csb.2	P26378	OTTHUMG00000007877	ENST00000371823.4:c.559G>A	1.37:g.50661283G>A	ENSP00000360888:p.Glu187Lys					ELAVL4_uc001cry.3_Missense_Mutation_p.E190K|ELAVL4_uc001crz.3_Missense_Mutation_p.E187K|ELAVL4_uc001csa.3_Missense_Mutation_p.E204K|ELAVL4_uc001csc.3_Missense_Mutation_p.E187K|ELAVL4_uc009vyu.2_Missense_Mutation_p.E192K|ELAVL4_uc010omz.1_Missense_Mutation_p.E192K	p.E187K	NM_021952	NP_068771	P26378	ELAV4_HUMAN			5	827	+			187			RRM 2.		B1APY6|B1APY7|B7Z4G7|Q8IYD4|Q96J74|Q96J75|Q9UD24	Missense_Mutation	SNP	ENST00000371823.4	37	c.559G>A	CCDS553.1	.	.	.	.	.	.	.	.	.	.	G	37	6.255920	0.97417	.	.	ENSG00000162374	ENST00000448907;ENST00000371827;ENST00000357083;ENST00000371824;ENST00000371823;ENST00000371821;ENST00000371819	T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27	6.11	6.11	0.99139	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.32406	0.0828	N	0.26130	0.795	0.80722	D	1	D;D;P;D;D;D;D	0.71674	0.996;0.967;0.75;0.998;0.998;0.996;0.996	D;D;B;D;D;P;D	0.69479	0.913;0.918;0.335;0.964;0.919;0.893;0.913	T	0.01648	-1.1304	10	0.66056	D	0.02	.	20.7342	0.99715	0.0:0.0:1.0:0.0	.	192;192;187;187;204;187;190	B1APY9;B1APY8;P26378-2;P26378;P26378-3;P26378-4;B7Z4G7	.;.;.;ELAV4_HUMAN;.;.;.	K	190;187;204;187;187;192;192	ENSP00000399939:E190K;ENSP00000360892:E187K;ENSP00000349594:E204K;ENSP00000360889:E187K;ENSP00000360888:E187K;ENSP00000360886:E192K;ENSP00000360884:E192K	ENSP00000349594:E204K	E	+	1	0	ELAVL4	50433870	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.906000	0.99361	0.655000	0.94253	GAA		0.522	ELAVL4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000021712.1		NM_021952		41	108	0	0	0	0.002222	0	41	108		
PRPF38A	84950	broad.mit.edu	37	1	52874277	52874277	+	Silent	SNP	G	G	C	rs375603067		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:52874277G>C	ENST00000257181.9	+	3	513	c.327G>C	c.(325-327)ctG>ctC	p.L109L	PRPF38A_ENST00000474048.1_Intron|snoU13_ENST00000458879.1_RNA	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	109					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						ACATGAGGCTGACAGGCACTG	0.453																																						uc001ctv.3		NaN																	0					0						c.(325-327)CTG>CTC		PRP38 pre-mRNA processing factor 38 (yeast)		G		2,4404	4.2+/-10.8	0,2,2201	104.0	95.0	98.0		327	4.4	1.0	1		98	0,8600		0,0,4300	no	coding-synonymous	PRPF38A	NM_032864.3		0,2,6501	CC,CG,GG		0.0,0.0454,0.0154		109/313	52874277	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84950				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:52874277G>C	AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.327G>C	1.37:g.52874277G>C						PRPF38A_uc001ctw.3_Intron	p.L109L	NM_032864	NP_116253	Q8NAV1	PR38A_HUMAN			3	530	+			109					Q96JW1|Q9BVZ8	Silent	SNP	ENST00000257181.9	37	c.327G>C	CCDS567.1																																																																																				0.453	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022459.2		NM_032864		22	76	0	0	0	0.001882	0	22	76		
HOOK1	51361	broad.mit.edu	37	1	60309252	60309252	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:60309252T>C	ENST00000371208.3	+	9	1027	c.770T>C	c.(769-771)tTa>tCa	p.L257S	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.L215S	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	257	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CTAGAACAATTACAGGAAGAA	0.323																																						uc009wad.2		NaN																	0				ovary(1)|breast(1)	2						c.(769-771)TTA>TCA		hook homolog 1							55.0	56.0	56.0					1																	60309252		2201	4299	6500	SO:0001583	missense	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60309252T>C	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.770T>C	1.37:g.60309252T>C	ENSP00000360252:p.Leu257Ser					HOOK1_uc001czo.2_Missense_Mutation_p.L257S|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Missense_Mutation_p.L215S	p.L257S	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			10	872	+	all_cancers(7;0.000129)		257			Potential.|Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Missense_Mutation	SNP	ENST00000371208.3	37	c.770T>C	CCDS612.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.405443	0.83230	.	.	ENSG00000134709	ENST00000371208;ENST00000395561	T;T	0.38077	1.16;1.16	6.17	6.17	0.99709	.	0.203054	0.40469	N	0.001084	T	0.56247	0.1972	M	0.65677	2.01	0.58432	D	0.999999	P	0.49253	0.921	P	0.59357	0.856	T	0.57860	-0.7738	10	0.72032	D	0.01	.	15.3933	0.74767	0.0:0.0:0.0:1.0	.	257	Q9UJC3	HOOK1_HUMAN	S	257;215	ENSP00000360252:L257S;ENSP00000378928:L215S	ENSP00000360252:L257S	L	+	2	0	HOOK1	60081840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.342000	0.79310	2.371000	0.80710	0.533000	0.62120	TTA		0.323	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1		NM_015888		15	45	0	0	0	0.00245	0	15	45		
LRRC7	57554	broad.mit.edu	37	1	70504742	70504742	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:70504742G>A	ENST00000035383.5	+	19	3151	c.3121G>A	c.(3121-3123)Gaa>Aaa	p.E1041K	LRRC7_ENST00000310961.5_Missense_Mutation_p.E1046K|LRRC7_ENST00000415775.2_Missense_Mutation_p.E325K	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1041						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						AGGATCAGTGGAAGTGAAAGC	0.448																																						uc001dep.2		NaN																	0				ovary(9)|breast(2)|central_nervous_system(2)|liver(1)	14						c.(3121-3123)GAA>AAA		leucine rich repeat containing 7							59.0	63.0	61.0					1																	70504742		2203	4300	6503	SO:0001583	missense	57554					centrosome|focal adhesion|nucleolus	protein binding	g.chr1:70504742G>A		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.3121G>A	1.37:g.70504742G>A	ENSP00000035383:p.Glu1041Lys					LRRC7_uc009wbg.2_Missense_Mutation_p.E325K|LRRC7_uc001deq.2_Missense_Mutation_p.E282K	p.E1041K	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN			19	3151	+			1041					Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	c.3121G>A	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	5.958	0.360771	0.11296	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.36878	1.23;1.3;2.4	5.63	5.63	0.86233	.	0.269175	0.38058	N	0.001837	T	0.24967	0.0606	L	0.47716	1.5	0.49582	D	0.999805	P;B;B	0.40083	0.702;0.206;0.131	B;B;B	0.37650	0.255;0.085;0.039	T	0.04737	-1.0930	10	0.49607	T	0.09	.	18.6607	0.91471	0.0:0.0:1.0:0.0	.	325;1041;1041	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	K	1046;1041;325;864	ENSP00000309245:E1046K;ENSP00000035383:E1041K;ENSP00000394867:E325K	ENSP00000035383:E1041K	E	+	1	0	LRRC7	70277330	1.000000	0.71417	1.000000	0.80357	0.018000	0.09664	8.237000	0.89807	2.653000	0.90120	0.563000	0.77884	GAA		0.448	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1		NM_020794		13	48	0	0	0	0.001368	0	13	48		
FPGT	8790	broad.mit.edu	37	1	74670826	74670826	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:74670826T>C	ENST00000609362.1	+	4	1132	c.1095T>C	c.(1093-1095)taT>taC	p.Y365Y	TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000534056.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370898.3_Silent_p.Y378Y|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.5_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	365					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CCGAAGAATATTTGTTTTACT	0.328																																						uc001dgb.1		NaN																	0				skin(1)	1						c.(1093-1095)TAT>TAC		fucose-1-phosphate guanyltransferase							50.0	54.0	52.0					1																	74670826		2203	4300	6503	SO:0001819	synonymous_variant	8790				fucose metabolic process	cytoplasm	fucose-1-phosphate guanylyltransferase activity|GTP binding	g.chr1:74670826T>C	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1095T>C	1.37:g.74670826T>C						TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Intron|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron	p.Y365Y	NM_003838	NP_003829	O14772	FPGT_HUMAN			4	1132	+			365					A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Silent	SNP	ENST00000609362.1	37	c.1095T>C	CCDS663.1																																																																																				0.328	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					21	58	0	0	0	0.002299	0	21	58		
ST6GALNAC5	81849	broad.mit.edu	37	1	77509952	77509952	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:77509952C>G	ENST00000477717.1	+	3	560	c.325C>G	c.(325-327)Cgg>Ggg	p.R109G		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	109					glycosphingolipid biosynthetic process (GO:0006688)|oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						GCTGCACAGTCGGCAAGGCTC	0.617																																						uc001dhi.2		NaN																	0				pancreas(1)|skin(1)	2						c.(325-327)CGG>GGG		sialyltransferase 7E							54.0	48.0	50.0					1																	77509952		2203	4300	6503	SO:0001583	missense	81849				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:77509952C>G		CCDS673.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000117069	ENSG00000117069		"""Sialyltransferases"""	19342	protein-coding gene	gene with protein product		610134	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) E"""	SIAT7E		10521438, 10601645	Standard	NM_030965		Approved	MGC3184, ST6GalNAcV	uc001dhi.3	Q9BVH7	OTTHUMG00000009687	ENST00000477717.1:c.325C>G	1.37:g.77509952C>G	ENSP00000417583:p.Arg109Gly					ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA	p.R109G	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN			3	500	+			109			Lumenal (Potential).		B1AK82	Missense_Mutation	SNP	ENST00000477717.1	37	c.325C>G	CCDS673.1	.	.	.	.	.	.	.	.	.	.	C	0.183	-1.060549	0.01950	.	.	ENSG00000117069	ENST00000477717;ENST00000438953	T	0.27557	1.66	5.72	1.41	0.22369	.	0.928775	0.09228	N	0.830926	T	0.02807	0.0084	N	0.02202	-0.64	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.44559	-0.9320	10	0.05833	T	0.94	-20.3949	9.6686	0.39998	0.3952:0.4048:0.2001:0.0	.	109	Q9BVH7	SIA7E_HUMAN	G	109;19	ENSP00000417583:R109G	ENSP00000436263:R109G	R	+	1	2	ST6GALNAC5	77282540	0.002000	0.14202	0.708000	0.30435	0.709000	0.40893	0.181000	0.16880	0.310000	0.22990	0.655000	0.94253	CGG		0.617	ST6GALNAC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026692.2		NM_030965		16	69	0	0	0	0.00499	0	16	69		
USP33	23032	broad.mit.edu	37	1	78177467	78177467	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:78177467T>A	ENST00000370793.1	-	22	2810	c.2464A>T	c.(2464-2466)Aaa>Taa	p.K822*	USP33_ENST00000357428.1_Nonsense_Mutation_p.K822*|USP33_ENST00000370792.3_Nonsense_Mutation_p.K814*|USP33_ENST00000370794.3_Nonsense_Mutation_p.K791*	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	822	DUSP 2. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TTTCTTCTTTTTTCAATTTTC	0.328																																					Melanoma(152;72 1870 11110 26780 42647)	uc001dht.2		NaN																	0				lung(2)|ovary(1)	3						c.(2464-2466)AAA>TAA		ubiquitin specific protease 33 isoform 1							36.0	41.0	39.0					1																	78177467		2202	4299	6501	SO:0001587	stop_gained	23032				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr1:78177467T>A	AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2464A>T	1.37:g.78177467T>A	ENSP00000359829:p.Lys822*					USP33_uc001dhs.2_Nonsense_Mutation_p.K543*|USP33_uc001dhu.2_Nonsense_Mutation_p.K791*|USP33_uc001dhv.2_Nonsense_Mutation_p.K627*|USP33_uc001dhw.2_Nonsense_Mutation_p.K814*	p.K822*	NM_015017	NP_055832	Q8TEY7	UBP33_HUMAN			22	2811	-			822			DUSP 2.		Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Nonsense_Mutation	SNP	ENST00000370793.1	37	c.2464A>T	CCDS678.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	41|41	8.787358|8.787358	0.98954|0.98954	.|.	.|.	ENSG00000077254|ENSG00000077254	ENST00000481579|ENST00000370794;ENST00000370793;ENST00000357428;ENST00000370792	.|.	.|.	.|.	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|.	0.20659|.	0.0497|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.08994|.	-1.0695|.	4|.	.|0.02654	.|T	.|1	.|.	15.6816|15.6816	0.77373|0.77373	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	N|X	426|791;822;822;814	.|.	.|ENSP00000350009:K822X	K|K	-|-	3|1	2|0	USP33|USP33	77950055|77950055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.590000|7.590000	0.82653|0.82653	2.167000|2.167000	0.68274|0.68274	0.533000|0.533000	0.62120|0.62120	AAA|AAA		0.328	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2		NM_015017		22	59	0	0	0	0.001882	0	22	59		
OVGP1	5016	broad.mit.edu	37	1	111966296	111966296	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:111966296C>G	ENST00000369732.3	-	5	407	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	OVGP1_ENST00000481495.1_5'Flank|OVGP1_ENST00000540696.1_Missense_Mutation_p.E58Q	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	118					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		ATAAACTTTTCACGGTTGGCA	0.458																																						uc001eba.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(352-354)GAA>CAA		oviductal glycoprotein 1 precursor							128.0	110.0	116.0					1																	111966296		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111966296C>G	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.352G>C	1.37:g.111966296C>G	ENSP00000358747:p.Glu118Gln					OVGP1_uc001eaz.2_Missense_Mutation_p.E80Q|OVGP1_uc010owb.1_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.E108Q	p.E118Q	NM_002557	NP_002548	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	5	408	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	118					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.352G>C	CCDS834.1	.	.	.	.	.	.	.	.	.	.	C	2.087	-0.409411	0.04799	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000540696	T;T	0.05199	3.48;3.48	4.54	0.295	0.15752	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.386478	0.30911	N	0.008635	T	0.00815	0.0027	N	0.16708	0.43	0.09310	N	1	B;B;P	0.35363	0.001;0.001;0.497	B;B;B	0.36335	0.005;0.005;0.222	T	0.42649	-0.9439	10	0.02654	T	1	-1.9695	5.9441	0.19209	0.0:0.3408:0.4683:0.191	.	118;118;182	B2RA77;Q12889;Q59HH5	.;OVGP1_HUMAN;.	Q	118;182;58	ENSP00000358747:E118Q;ENSP00000438449:E58Q	ENSP00000358743:E182Q	E	-	1	0	OVGP1	111767819	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.074000	0.11450	0.191000	0.20236	-0.274000	0.10170	GAA		0.458	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1		NM_002557		20	72	0	0	0	0.002299	0	20	72		
MAGI3	260425	broad.mit.edu	37	1	114196636	114196636	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:114196636A>G	ENST00000307546.9	+	15	2700	c.2625A>G	c.(2623-2625)ccA>ccG	p.P875P	MAGI3_ENST00000369611.4_Silent_p.P875P|MAGI3_ENST00000369615.1_Silent_p.P875P|MAGI3_ENST00000369617.4_Silent_p.P900P	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	900					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCACCTCCAGGAGGTAAGG	0.443																																						uc001edk.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(1)	6						c.(2623-2625)CCA>CCG		membrane-associated guanylate kinase-related  3							124.0	131.0	129.0					1																	114196636		2203	4300	6503	SO:0001819	synonymous_variant	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114196636A>G	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.2625A>G	1.37:g.114196636A>G						MAGI3_uc001edh.3_Silent_p.P900P|MAGI3_uc001edi.3_Silent_p.P875P|MAGI3_uc010owm.1_Silent_p.P900P|MAGI3_uc001edj.2_Silent_p.P596P	p.P875P	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	15	2806	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	900			Interaction with LPAR2 and GRIN2B.|PDZ 5.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Silent	SNP	ENST00000307546.9	37	c.2625A>G	CCDS44196.1																																																																																				0.443	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1		NM_152900		71	185	0	0	0	0.00361	0	71	185		
CD101	9398	broad.mit.edu	37	1	117559992	117559992	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:117559992C>G	ENST00000256652.4	+	5	1567	c.1509C>G	c.(1507-1509)atC>atG	p.I503M	CD101_ENST00000369470.1_Missense_Mutation_p.I503M	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	503	Ig-like C2-type 4.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCACTGCCATCACAGACAGTG	0.517																																						uc010oxb.1		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1507-1509)ATC>ATG		immunoglobulin superfamily, member 2 precursor							97.0	89.0	92.0					1																	117559992		2203	4300	6503	SO:0001583	missense	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117559992C>G	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1509C>G	1.37:g.117559992C>G	ENSP00000256652:p.Ile503Met					CD101_uc009whd.2_Missense_Mutation_p.I503M|CD101_uc010oxc.1_Missense_Mutation_p.I503M|CD101_uc010oxd.1_Missense_Mutation_p.I441M	p.I503M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			5	1567	+			503			Extracellular (Potential).|Ig-like C2-type 4.		Q15856	Missense_Mutation	SNP	ENST00000256652.4	37	c.1509C>G	CCDS891.1	.	.	.	.	.	.	.	.	.	.	C	6.225	0.409695	0.11812	.	.	ENSG00000134256	ENST00000256652;ENST00000369470	T;T	0.21932	1.98;1.98	4.62	1.41	0.22369	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.957719	0.08617	N	0.918983	T	0.04363	0.0120	N	0.25647	0.755	0.09310	N	1	B	0.19445	0.036	B	0.16722	0.016	T	0.41270	-0.9518	10	0.46703	T	0.11	-2.8447	2.6714	0.05068	0.1919:0.5192:0.1861:0.1028	.	503	Q93033	IGSF2_HUMAN	M	503	ENSP00000256652:I503M;ENSP00000358482:I503M	ENSP00000256652:I503M	I	+	3	3	CD101	117361515	0.000000	0.05858	0.257000	0.24404	0.717000	0.41224	-0.817000	0.04472	0.623000	0.30267	0.655000	0.94253	ATC		0.517	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1		NM_004258		30	88	0	0	0	0.008361	0	30	88		
WDR3	10885	broad.mit.edu	37	1	118486119	118486119	+	Missense_Mutation	SNP	A	A	G	rs141364091	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:118486119A>G	ENST00000349139.5	+	11	1245	c.1198A>G	c.(1198-1200)Act>Gct	p.T400A		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	400						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ATCCTTGCCTACTCCTCAGCC	0.473													A|||	3	0.000599042	0.0	0.0	5008	,	,		17235	0.0		0.003	False		,,,				2504	0.0					uc010oxe.1		NaN																	0				upper_aerodigestive_tract(1)	1						c.(1198-1200)ACT>GCT		WD repeat-containing protein 3		A	ALA/THR	3,4403	6.2+/-15.9	0,3,2200	150.0	122.0	132.0		1198	-8.9	0.0	1	dbSNP_134	132	27,8573	19.2+/-60.6	0,27,4273	yes	missense	WDR3	NM_006784.2	58	0,30,6473	GG,GA,AA		0.314,0.0681,0.2307	benign	400/944	118486119	30,12976	2203	4300	6503	SO:0001583	missense	10885					nuclear membrane|nucleolus		g.chr1:118486119A>G	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1198A>G	1.37:g.118486119A>G	ENSP00000308179:p.Thr400Ala					WDR3_uc001ehi.2_Intron	p.T400A	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	11	1264	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	400						Missense_Mutation	SNP	ENST00000349139.5	37	c.1198A>G	CCDS898.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	A	4.436	0.080643	0.08533	6.81E-4	0.00314	ENSG00000065183	ENST00000349139	T	0.53206	0.63	5.55	-8.93	0.00771	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.175220	0.05772	N	0.607011	T	0.05823	0.0152	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20140	-1.0284	10	0.06891	T	0.86	1.8426	12.3816	0.55309	0.2796:0.0:0.6434:0.077	.	400	Q9UNX4	WDR3_HUMAN	A	400	ENSP00000308179:T400A	ENSP00000308179:T400A	T	+	1	0	WDR3	118287642	0.000000	0.05858	0.000000	0.03702	0.843000	0.47879	-0.635000	0.05471	-1.824000	0.01209	0.533000	0.62120	ACT		0.473	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2		NM_006784		3	100	0	0	0	0.004672	0	3	100		
SPAG17	200162	broad.mit.edu	37	1	118506543	118506543	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:118506543T>C	ENST00000336338.5	-	48	6616	c.6551A>G	c.(6550-6552)aAt>aGt	p.N2184S	WDR3_ENST00000349139.5_3'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2184						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTATCATAATTGCTGCTTGT	0.333																																						uc001ehk.2		NaN																	0				upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1)	6						c.(6550-6552)AAT>AGT		sperm associated antigen 17							139.0	148.0	145.0					1																	118506543		2203	4300	6503	SO:0001583	missense	200162					cilium|flagellar axoneme|microtubule		g.chr1:118506543T>C		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.6551A>G	1.37:g.118506543T>C	ENSP00000337804:p.Asn2184Ser						p.N2184S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	48	6619	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	2184					Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	c.6551A>G	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	13.97	2.394870	0.42512	.	.	ENSG00000155761	ENST00000336338	T	0.17054	2.3	4.76	2.26	0.28386	.	0.634546	0.15378	N	0.265473	T	0.04634	0.0126	L	0.57536	1.79	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.38542	-0.9656	10	0.15952	T	0.53	.	4.5363	0.12032	0.0:0.1019:0.197:0.7011	.	2184	Q6Q759	SPG17_HUMAN	S	2184	ENSP00000337804:N2184S	ENSP00000337804:N2184S	N	-	2	0	SPAG17	118308066	0.148000	0.22702	0.893000	0.35052	0.776000	0.43924	0.859000	0.27858	0.945000	0.37605	0.491000	0.48974	AAT		0.333	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1		NM_206996		35	108	0	0	0	0.00623	0	35	108		
NOTCH2	4853	broad.mit.edu	37	1	120462024	120462024	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:120462024C>T	ENST00000256646.2	-	31	5911	c.5692G>A	c.(5692-5694)Gat>Aat	p.D1898N		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1898					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACCTGCATCCAGGAGACGC	0.617			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NaN		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(5692-5694)GAT>AAT		notch 2 preproprotein							67.0	60.0	62.0					1																	120462024		2203	4300	6503	SO:0001583	missense	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120462024C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5692G>A	1.37:g.120462024C>T	ENSP00000256646:p.Asp1898Asn						p.D1898N	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	31	5948	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	1898			Cytoplasmic (Potential).|ANK 2.		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.5692G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	36	5.688659	0.96784	.	.	ENSG00000134250	ENST00000256646	T	0.65364	-0.15	5.64	5.64	0.86602	Ankyrin repeat-containing domain (4);	0.000000	0.39083	U	0.001474	T	0.67524	0.2902	L	0.38649	1.16	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68599	-0.5366	10	0.54805	T	0.06	.	18.6855	0.91562	0.0:1.0:0.0:0.0	.	1898	Q04721	NOTC2_HUMAN	N	1898	ENSP00000256646:D1898N	ENSP00000256646:D1898N	D	-	1	0	NOTCH2	120263547	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.674000	0.91012	0.655000	0.94253	GAT		0.617	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408		25	88	0	0	0	0.003954	0	25	88		
ITGA10	8515	broad.mit.edu	37	1	145541826	145541826	+	Missense_Mutation	SNP	C	C	T	rs140404631		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:145541826C>T	ENST00000369304.3	+	29	3524	c.3349C>T	c.(3349-3351)Cgg>Tgg	p.R1117W	RP11-315I20.3_ENST00000415065.2_RNA|ITGA10_ENST00000538811.1_Missense_Mutation_p.R986W|ITGA10_ENST00000539363.1_Missense_Mutation_p.R974W	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	1117					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTTCAGACCCGGCCTATCCT	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18710	0.0		0.0	False		,,,				2504	0.0					uc001eoa.2		NaN																	0				lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1)	8						c.(3349-3351)CGG>TGG		integrin, alpha 10 precursor		C	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	136.0	116.0	123.0		3349	6.2	0.4	1	dbSNP_134	123	1,8599	1.2+/-3.3	0,1,4299	no	missense	ITGA10	NM_003637.3	101	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	probably-damaging	1117/1168	145541826	4,13002	2203	4300	6503	SO:0001583	missense	8515				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	g.chr1:145541826C>T	AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.3349C>T	1.37:g.145541826C>T	ENSP00000358310:p.Arg1117Trp					NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Missense_Mutation_p.R986W|ITGA10_uc009wiw.2_Missense_Mutation_p.R974W|ITGA10_uc010oyw.1_Missense_Mutation_p.R1024W	p.R1117W	NM_003637	NP_003628	O75578	ITA10_HUMAN			29	3425	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		1117			Extracellular (Potential).		B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Missense_Mutation	SNP	ENST00000369304.3	37	c.3349C>T	CCDS918.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615663	0.46631	6.81E-4	1.16E-4	ENSG00000143127	ENST00000369304;ENST00000543043;ENST00000539363;ENST00000538811	T;T;T	0.58940	0.3;0.31;0.31	6.16	6.16	0.99307	.	0.354215	0.28659	N	0.014564	T	0.54287	0.1849	L	0.50333	1.59	0.30741	N	0.746132	D;D;D;D	0.71674	0.998;0.998;0.996;0.99	P;P;P;P	0.56916	0.809;0.809;0.53;0.53	T	0.55237	-0.8172	10	0.39692	T	0.17	.	13.1939	0.59728	0.1591:0.8409:0.0:0.0	.	1045;986;974;1117	F5H3T9;F5GY13;B2RTV5;O75578	.;.;.;ITA10_HUMAN	W	1117;1045;974;986	ENSP00000358310:R1117W;ENSP00000439894:R974W;ENSP00000440011:R986W	ENSP00000358310:R1117W	R	+	1	2	ITGA10	144253183	0.028000	0.19301	0.372000	0.25991	0.149000	0.21700	2.975000	0.49281	2.937000	0.99478	0.650000	0.86243	CGG		0.532	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2		NM_003637		34	111	0	0	0	0.004878	0	34	111		
FCGR1A	2209	broad.mit.edu	37	1	149762804	149762804	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:149762804C>T	ENST00000369168.4	+	6	910	c.856C>T	c.(856-858)Cca>Tca	p.P286S	RP11-196G18.21_ENST00000420462.1_RNA|RP11-196G18.3_ENST00000428289.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	286					antibody-dependent cellular cytotoxicity (GO:0001788)|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)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intracellular signal transduction (GO:0035556)|phagocytosis, engulfment (GO:0006911)|phagocytosis, recognition (GO:0006910)|positive regulation of phagocytosis (GO:0050766)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG receptor activity (GO:0019770)|receptor signaling protein activity (GO:0005057)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCTCCAGTTACCAACTCCTGT	0.423																																						uc001esp.3		NaN																	0				ovary(1)	1						c.(856-858)CCA>TCA		Fc fragment of IgG, high affinity Ia, receptor	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						20.0	20.0	20.0					1																	149762804		1296	2918	4214	SO:0001583	missense	2209				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity	g.chr1:149762804C>T	BC032634	CCDS933.1	1q21.2-q21.3	2014-09-17	2005-02-02		ENSG00000150337	ENSG00000150337		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3613	protein-coding gene	gene with protein product		146760	"""Fc fragment of IgG, high affinity Ia, receptor for (CD64)"""			8697799, 9763663	Standard	NM_000566		Approved	CD64, CD64A	uc001esp.4	P12314	OTTHUMG00000012089	ENST00000369168.4:c.856C>T	1.37:g.149762804C>T	ENSP00000358165:p.Pro286Ser					HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_RNA	p.P286S	NM_000566	NP_000557	P12314	FCGR1_HUMAN			6	906	+	Breast(34;0.0124)|all_hematologic(923;0.127)		286			Extracellular (Potential).		P12315|Q5QNW7|Q92495|Q92663	Missense_Mutation	SNP	ENST00000369168.4	37	c.856C>T	CCDS933.1	.	.	.	.	.	.	.	.	.	.	C	0.387	-0.925580	0.02377	.	.	ENSG00000150337	ENST00000444948;ENST00000369168	T;T	0.02682	4.51;4.2	4.13	2.14	0.27477	.	.	.	.	.	T	0.00496	0.0016	N	0.14661	0.345	0.44780	D	0.997786	B	0.15719	0.014	B	0.15052	0.012	T	0.37454	-0.9705	9	0.07175	T	0.84	.	4.8143	0.13358	0.2122:0.6668:0.0:0.121	.	286	P12314	FCGR1_HUMAN	S	194;286	ENSP00000394279:P194S;ENSP00000358165:P286S	ENSP00000358165:P286S	P	+	1	0	FCGR1A	148029428	0.000000	0.05858	0.221000	0.23827	0.305000	0.27757	-0.691000	0.05133	0.410000	0.25675	0.543000	0.68304	CCA		0.423	FCGR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033446.1		NM_000566		23	64	0	0	0	0.003271	0	23	64		
HORMAD1	84072	broad.mit.edu	37	1	150679028	150679028	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:150679028C>A	ENST00000361824.2	-	10	910		c.e10+1		HORMAD1_ENST00000322343.7_Splice_Site|HORMAD1_ENST00000368993.2_Splice_Site|HORMAD1_ENST00000368995.4_Splice_Site	NM_032132.4	NP_115508.2	Q86X24	HORM1_HUMAN	HORMA domain containing 1						blastocyst development (GO:0001824)|meiotic DNA double-strand break formation (GO:0042138)|meiotic nuclear division (GO:0007126)|meiotic recombination checkpoint (GO:0051598)|meiotic sister chromatid cohesion (GO:0051177)|oogenesis (GO:0048477)|regulation of homologous chromosome segregation (GO:0060629)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AATACACTTACACTTGTATAA	0.294																																						uc001evk.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.e10+1		HORMA domain containing 1							124.0	119.0	121.0					1																	150679028		2203	4299	6502	SO:0001630	splice_region_variant	84072				blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus		g.chr1:150679028C>A	AL136755	CCDS967.1, CCDS55633.1	1q21.2	2009-03-09			ENSG00000143452	ENSG00000143452			25245	protein-coding gene	gene with protein product	"""cancer/testis antigen 46"""	609824				11230166, 15999985	Standard	NM_032132		Approved	DKFZP434A1315, CT46	uc001evk.2	Q86X24	OTTHUMG00000035005	ENST00000361824.2:c.804+1G>T	1.37:g.150679028C>A						HORMAD1_uc001evl.1_Splice_Site_p.S261_splice|HORMAD1_uc001evm.1_Splice_Site_p.S188_splice	p.S268_splice	NM_032132	NP_115508	Q86X24	HORM1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)		10	910	-	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)							A6NMK2|B3KUK1|Q4G114|Q5T5I3|Q5T5I4|Q5T5I5|Q6FIC1|Q9H0K8	Splice_Site	SNP	ENST00000361824.2	37	c.804_splice	CCDS967.1	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808325	0.31961	.	.	ENSG00000143452	ENST00000368995;ENST00000368993;ENST00000368992;ENST00000540570;ENST00000322343;ENST00000361824	.	.	.	5.09	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.1274	0.53924	0.0:0.9167:0.0:0.0833	.	.	.	.	.	-1	.	.	.	-	.	.	HORMAD1	148945652	0.999000	0.42202	0.449000	0.26957	0.435000	0.31806	1.902000	0.39848	1.367000	0.46095	0.467000	0.42956	.		0.294	HORMAD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084722.1		NM_032132	Intron	13	106	1	0	6.31663e-08	0.003163	7.82298e-08	13	106		
PRUNE	58497	broad.mit.edu	37	1	150990968	150990968	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:150990968T>G	ENST00000271620.3	+	3	314	c.158T>G	c.(157-159)gTg>gGg	p.V53G	PRUNE_ENST00000368936.1_Intron|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368937.1_Intron|PRUNE_ENST00000467771.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	53						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GAAGTCTTTGTGCCAGTTTTA	0.383																																						uc001ewh.1		NaN																	0				ovary(1)	1						c.(157-159)GTG>GGG		prune							144.0	145.0	145.0					1																	150990968		2203	4300	6503	SO:0001583	missense	58497					cytoplasm|focal adhesion|nucleus	inorganic diphosphatase activity|manganese ion binding|protein binding	g.chr1:150990968T>G	U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.158T>G	1.37:g.150990968T>G	ENSP00000271620:p.Val53Gly					PRUNE_uc001ewi.1_Intron|PRUNE_uc010pco.1_Intron|PRUNE_uc001ewj.1_Intron	p.V53G	NM_021222	NP_067045	Q86TP1	PRUNE_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		3	294	+	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		53					B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Missense_Mutation	SNP	ENST00000271620.3	37	c.158T>G	CCDS977.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.066086	0.55539	.	.	ENSG00000143363	ENST00000271620	T	0.38887	1.11	4.99	4.99	0.66335	Phosphoesterase, RecJ-like (1);	0.153225	0.42964	D	0.000624	T	0.55593	0.1930	M	0.85630	2.765	0.80722	D	1	D	0.55385	0.971	P	0.62298	0.9	T	0.64424	-0.6411	10	0.87932	D	0	.	11.0135	0.47675	0.0:0.0:0.0:1.0	.	53	Q86TP1	PRUNE_HUMAN	G	53	ENSP00000271620:V53G	ENSP00000271620:V53G	V	+	2	0	PRUNE	149257592	1.000000	0.71417	0.999000	0.59377	0.398000	0.30690	5.960000	0.70348	2.088000	0.63022	0.533000	0.62120	GTG		0.383	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084885.1		NM_021222		47	234	0	0	0	0.00361	0	47	234		
C1orf56	54964	broad.mit.edu	37	1	151020344	151020344	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:151020344G>A	ENST00000368926.5	+	1	129	c.21G>A	c.(19-21)gcG>gcA	p.A7A		NM_017860.3	NP_060330.2	Q9BUN1	MENT_HUMAN	chromosome 1 open reading frame 56	7						cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCGCCGGCGCGCTGCTGTGGG	0.687																																					GBM(146;891 3320 6873)	uc001ewn.2		NaN																	0					0						c.(19-21)GCG>GCA		hypothetical protein LOC54964 precursor							6.0	9.0	8.0					1																	151020344		2067	4123	6190	SO:0001819	synonymous_variant	54964					extracellular region		g.chr1:151020344G>A	BC002469	CCDS980.1	1q21.2	2013-09-20			ENSG00000143443	ENSG00000143443			26045	protein-coding gene	gene with protein product	"""methylated in normal thymocytes"""					12975309, 22133874	Standard	NM_017860		Approved	FLJ20519, MENT	uc001ewn.3	Q9BUN1	OTTHUMG00000035159	ENST00000368926.5:c.21G>A	1.37:g.151020344G>A							p.A7A	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		1	86	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		7					B2RDU8|Q9NWZ4	Silent	SNP	ENST00000368926.5	37	c.21G>A	CCDS980.1																																																																																				0.687	C1orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085101.1		NM_017860		8	29	0	0	0	0.00308	0	8	29		
TRIM46	80128	broad.mit.edu	37	1	155145217	155145217	+	5'Flank	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155145217G>A	ENST00000334634.4	+	0	0				KRTCAP2_ENST00000295682.4_Silent_p.L78L|KRTCAP2_ENST00000490672.1_5'UTR|TRIM46_ENST00000368382.1_5'Flank|TRIM46_ENST00000368385.4_5'Flank|TRIM46_ENST00000545012.1_5'Flank|RP11-201K10.3_ENST00000473363.2_Missense_Mutation_p.H120Y|TRIM46_ENST00000392451.2_5'Flank|TRIM46_ENST00000543729.1_5'Flank|TRIM46_ENST00000368383.3_5'Flank	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGATACAGTGAGCGAGAACA	0.617																																						uc001fho.2		NaN																	0					0						c.(232-234)CTC>CTT		keratinocyte associated protein 2							72.0	71.0	71.0					1																	155145217		2203	4300	6503	SO:0001631	upstream_gene_variant	200185					integral to membrane		g.chr1:155145217G>A		CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680		1.37:g.155145217G>A	Exception_encountered					RAG1AP1_uc010pey.1_Intron|KRTCAP2_uc001fhp.1_Silent_p.L78L|TRIM46_uc009wpe.1_5'Flank|TRIM46_uc010pez.1_5'Flank|TRIM46_uc001fhq.2_5'Flank|TRIM46_uc001fhr.2_5'Flank|TRIM46_uc001fhs.1_5'Flank|TRIM46_uc001fht.1_5'Flank|TRIM46_uc010pfa.1_5'Flank|TRIM46_uc001fhu.1_5'Flank|TRIM46_uc009wpg.1_5'Flank|TRIM46_uc009wpf.2_5'Flank|TRIM46_uc001fhv.3_5'Flank|TRIM46_uc001fhw.1_5'Flank	p.L78L	NM_173852	NP_776251	Q8N6L1	KTAP2_HUMAN	Epithelial(20;3.18e-10)|all cancers(21;8.39e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		2	260	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		78			Helical; (Potential).		A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	ENST00000334634.4	37	c.234C>T	CCDS1097.1																																																																																				0.617	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086728.1		NM_025058		13	32	0	0	0	0.00245	0	13	32		
HCN3	57657	broad.mit.edu	37	1	155247568	155247568	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155247568C>T	ENST00000368358.3	+	1	195	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	CLK2_ENST00000536801.1_5'Flank|HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	63	Involved in subunit assembly. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTTCTCCCTTCGGGTGTTCGG	0.622																																						uc001fjz.1		NaN																	0				ovary(1)|breast(1)	2						c.(187-189)CGG>TGG		hyperpolarization activated cyclic							23.0	24.0	23.0					1																	155247568		2202	4298	6500	SO:0001583	missense	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155247568C>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.187C>T	1.37:g.155247568C>T	ENSP00000357342:p.Arg63Trp					RAG1AP1_uc010pey.1_Intron|CLK2_uc009wqm.2_5'Flank|HCN3_uc010pfz.1_5'UTR	p.R63W	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		1	195	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		63			Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Missense_Mutation	SNP	ENST00000368358.3	37	c.187C>T	CCDS1108.1	.	.	.	.	.	.	.	.	.	.	C	36	5.673480	0.96754	.	.	ENSG00000143630	ENST00000368358	T	0.80033	-1.33	5.2	5.2	0.72013	Ion transport N-terminal (1);	0.000000	0.43579	D	0.000551	D	0.88537	0.6463	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89767	0.3951	10	0.87932	D	0	.	16.583	0.84719	0.0:1.0:0.0:0.0	.	63	Q9P1Z3	HCN3_HUMAN	W	63	ENSP00000357342:R63W	ENSP00000357342:R63W	R	+	1	2	HCN3	153514192	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.364000	0.44187	2.588000	0.87417	0.491000	0.48974	CGG		0.622	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1		NM_020897		10	20	0	0	0	0.001368	0	10	20		
HCN3	57657	broad.mit.edu	37	1	155247576	155247576	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155247576C>T	ENST00000368358.3	+	1	203	c.195C>T	c.(193-195)ttC>ttT	p.F65F	CLK2_ENST00000536801.1_5'Flank|HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	65	Involved in subunit assembly. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTCGGGTGTTCGGCAGCCACA	0.622																																						uc001fjz.1		NaN																	0				ovary(1)|breast(1)	2						c.(193-195)TTC>TTT		hyperpolarization activated cyclic							22.0	24.0	24.0					1																	155247576		2203	4299	6502	SO:0001819	synonymous_variant	57657					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr1:155247576C>T	AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.195C>T	1.37:g.155247576C>T						RAG1AP1_uc010pey.1_Intron|CLK2_uc009wqm.2_5'Flank|HCN3_uc010pfz.1_5'UTR	p.F65F	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		1	203	+	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		65			Involved in subunit assembly (By similarity).|Cytoplasmic (Potential).		D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	ENST00000368358.3	37	c.195C>T	CCDS1108.1																																																																																				0.622	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087388.1		NM_020897		11	18	0	0	0	0.001368	0	11	18		
ASH1L	55870	broad.mit.edu	37	1	155490915	155490915	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155490915C>T	ENST00000368346.3	-	2	1035	c.396G>A	c.(394-396)aaG>aaA	p.K132K	ASH1L_ENST00000548830.1_Silent_p.K132K|ASH1L_ENST00000392403.3_Silent_p.K132K			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	132					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTGTTCATTCTTTTCATCCG	0.333																																						uc009wqq.2		NaN																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(394-396)AAG>AAA		absent, small, or homeotic 1-like							216.0	224.0	221.0					1																	155490915		2203	4299	6502	SO:0001819	synonymous_variant	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155490915C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.396G>A	1.37:g.155490915C>T						ASH1L_uc001fkt.2_Silent_p.K132K|ASH1L_uc009wqr.1_Silent_p.K132K	p.K132K	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	876	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		132					Q59GP1|Q5T714|Q5T715|Q9P2C7	Silent	SNP	ENST00000368346.3	37	c.396G>A																																																																																					0.333	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1		NM_018489		78	271	0	0	0	0.00361	0	78	271		
SYT11	23208	broad.mit.edu	37	1	155838178	155838178	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155838178G>C	ENST00000368324.4	+	2	710	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	153					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			ATCATCTCCAGAGGAGGATGT	0.517																																						uc001fmg.2		NaN																	0				ovary(1)|skin(1)	2						c.(457-459)GAG>CAG		synaptotagmin XI							91.0	89.0	89.0					1																	155838178		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838178G>C	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.457G>C	1.37:g.155838178G>C	ENSP00000357307:p.Glu153Gln					SYT11_uc010pgq.1_Intron	p.E153Q	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	720	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		153			Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.457G>C	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170608	0.78452	.	.	ENSG00000132718	ENST00000368324	T	0.08720	3.06	5.35	5.35	0.76521	C2 calcium/lipid-binding domain, CaLB (1);	0.185066	0.47455	D	0.000226	T	0.05547	0.0146	L	0.48642	1.525	0.80722	D	1	P	0.36048	0.534	B	0.34138	0.176	T	0.32693	-0.9897	10	0.37606	T	0.19	.	18.8354	0.92161	0.0:0.0:1.0:0.0	.	153	Q9BT88	SYT11_HUMAN	Q	153	ENSP00000357307:E153Q	ENSP00000357307:E153Q	E	+	1	0	SYT11	154104802	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.377000	0.97184	2.781000	0.95711	0.655000	0.94253	GAG		0.517	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1		NM_152280		47	139	0	0	0	0.00361	0	47	139		
SYT11	23208	broad.mit.edu	37	1	155838197	155838197	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:155838197G>A	ENST00000368324.4	+	2	729	c.476G>A	c.(475-477)gGa>gAa	p.G159E	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	159					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GTCATGCTAGGATCCCTCACC	0.537																																						uc001fmg.2		NaN																	0				ovary(1)|skin(1)	2						c.(475-477)GGA>GAA		synaptotagmin XI							81.0	79.0	80.0					1																	155838197		2203	4300	6503	SO:0001583	missense	23208					cell junction|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:155838197G>A	D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.476G>A	1.37:g.155838197G>A	ENSP00000357307:p.Gly159Glu					SYT11_uc010pgq.1_Intron	p.G159E	NM_152280	NP_689493	Q9BT88	SYT11_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.000162)		2	739	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		159			Cytoplasmic (Potential).		Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Missense_Mutation	SNP	ENST00000368324.4	37	c.476G>A	CCDS1122.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668592	0.88348	.	.	ENSG00000132718	ENST00000368324	T	0.13778	2.56	5.35	5.35	0.76521	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01440	-1.1354	10	0.87932	D	0	.	18.8354	0.92161	0.0:0.0:1.0:0.0	.	159	Q9BT88	SYT11_HUMAN	E	159	ENSP00000357307:G159E	ENSP00000357307:G159E	G	+	2	0	SYT11	154104821	1.000000	0.71417	0.954000	0.39281	0.999000	0.98932	7.466000	0.80914	2.781000	0.95711	0.655000	0.94253	GGA		0.537	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1		NM_152280		41	122	0	0	0	0.00623	0	41	122		
SLC25A44	9673	broad.mit.edu	37	1	156180072	156180072	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:156180072G>A	ENST00000359511.4	+	4	967	c.795G>A	c.(793-795)ctG>ctA	p.L265L	PMF1_ENST00000565805.1_5'Flank|PMF1-BGLAP_ENST00000368276.4_5'Flank|PMF1_ENST00000368277.3_5'Flank|PMF1-BGLAP_ENST00000490491.1_5'Flank|SLC25A44_ENST00000469537.1_3'UTR|SLC25A44_ENST00000423538.2_Silent_p.L242L|PMF1_ENST00000368273.4_5'Flank|PMF1_ENST00000567140.1_5'Flank|PMF1-BGLAP_ENST00000320139.5_5'Flank|PMF1_ENST00000368279.3_5'Flank	NM_014655.2	NP_055470.1	Q96H78	S2544_HUMAN	solute carrier family 25, member 44	265					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Hepatocellular(266;0.158)					TCAGACAGCTGATGGCAGAAG	0.547																																						uc001fnp.2		NaN																	0				ovary(1)	1						c.(793-795)CTG>CTA		solute carrier family 25, member 44							159.0	150.0	153.0					1																	156180072		2203	4300	6503	SO:0001819	synonymous_variant	9673				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr1:156180072G>A	AB007915	CCDS1133.1, CCDS72943.1	1q22	2013-05-22			ENSG00000160785	ENSG00000160785		"""Solute carriers"""	29036	protein-coding gene	gene with protein product		610824				16949250	Standard	NM_001286184		Approved	FLJ90431, KIAA0446	uc001fnp.3	Q96H78	OTTHUMG00000014816	ENST00000359511.4:c.795G>A	1.37:g.156180072G>A						SLC25A44_uc010phc.1_Silent_p.L156L|SLC25A44_uc009wrr.2_Silent_p.L273L|SLC25A44_uc010phd.1_RNA|SLC25A44_uc010phe.1_RNA|PMF1_uc009wru.1_5'Flank|PMF1_uc001fnq.2_5'Flank|PMF1_uc001fnr.2_5'Flank|BGLAP_uc001fns.1_5'Flank	p.L265L	NM_014655	NP_055470	Q96H78	S2544_HUMAN			4	1117	+	Hepatocellular(266;0.158)		265			Solcar 3.		O75034	Silent	SNP	ENST00000359511.4	37	c.795G>A	CCDS1133.1	.	.	.	.	.	.	.	.	.	.	G	9.312	1.055774	0.19907	.	.	ENSG00000160785	ENST00000412949	.	.	.	4.8	2.92	0.33932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2748	0.31866	0.0872:0.1577:0.7551:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A44	154446696	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.039000	0.30266	0.624000	0.30286	0.655000	0.94253	.		0.547	SLC25A44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040856.1		NM_014655		34	69	0	0	0	0.003271	0	34	69		
APOA1BP	128240	broad.mit.edu	37	1	156561602	156561602	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:156561602C>T	ENST00000368235.3	+	1	49	c.6C>T	c.(4-6)tcC>tcT	p.S2S	APOA1BP_ENST00000368233.3_Silent_p.S2S|APOA1BP_ENST00000368234.3_Silent_p.S2S	NM_144772.2	NP_658985.2			apolipoprotein A-I binding protein											central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCTGGATGTCCAGGCTGCGGG	0.776																																						uc001fph.2		NaN																	0				central_nervous_system(1)	1						c.(4-6)TCC>TCT		apolipoprotein A-I binding protein precursor							6.0	7.0	7.0					1																	156561602		1692	3596	5288	SO:0001819	synonymous_variant	128240					extracellular region	protein binding	g.chr1:156561602C>T	AJ315849	CCDS1145.1	1q21	2008-08-14			ENSG00000163382	ENSG00000163382			18453	protein-coding gene	gene with protein product	"""apoA-I binding protein"""	608862				11991719, 17533573	Standard	NM_144772		Approved	AIBP, MGC119143, MGC119144, MGC119145, YJEFN1	uc001fph.3	Q8NCW5	OTTHUMG00000033206	ENST00000368235.3:c.6C>T	1.37:g.156561602C>T						APOA1BP_uc001fpg.2_Silent_p.S2S|APOA1BP_uc001fpi.2_Silent_p.S2S|APOA1BP_uc001fpj.2_5'UTR|APOA1BP_uc001fpk.2_5'UTR|APOA1BP_uc010php.1_5'UTR	p.S2S	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN			1	45	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		2						Silent	SNP	ENST00000368235.3	37	c.6C>T	CCDS1145.1																																																																																				0.776	APOA1BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081044.1		NM_144772		3	14	0	0	0	0.004672	0	3	14		
SH2D2A	9047	broad.mit.edu	37	1	156779017	156779017	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:156779017G>T	ENST00000368199.3	-	7	1133	c.980C>A	c.(979-981)tCc>tAc	p.S327Y	SH2D2A_ENST00000392306.2_Missense_Mutation_p.S337Y|SH2D2A_ENST00000368198.3_Missense_Mutation_p.S309Y	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	327	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACAGGCCTGGACCAGCTCTT	0.602																																						uc001fqd.2		NaN																	0					0						c.(979-981)TCC>TAC		SH2 domain protein 2A isoform 2							143.0	141.0	142.0					1																	156779017		2203	4300	6503	SO:0001583	missense	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156779017G>T	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.980C>A	1.37:g.156779017G>T	ENSP00000357182:p.Ser327Tyr					SH2D2A_uc001fqc.1_Missense_Mutation_p.S299Y|SH2D2A_uc009wsh.2_Missense_Mutation_p.S337Y|SH2D2A_uc001fqe.2_Missense_Mutation_p.S309Y|SH2D2A_uc010phs.1_Missense_Mutation_p.S327Y	p.S327Y	NM_003975	NP_003966	Q9NP31	SH22A_HUMAN			7	1120	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		327			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Missense_Mutation	SNP	ENST00000368199.3	37	c.980C>A	CCDS1159.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.715436	0.48622	.	.	ENSG00000027869	ENST00000368199;ENST00000368198;ENST00000392306	T;T;T	0.61510	0.15;0.1;0.58	3.47	3.47	0.39725	.	1.423550	0.04905	N	0.452077	T	0.57431	0.2053	L	0.34521	1.04	0.30053	N	0.811549	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.76575	0.988;0.956;0.921	T	0.52631	-0.8550	10	0.72032	D	0.01	-17.6194	12.1135	0.53852	0.0:0.0:1.0:0.0	.	337;309;327	Q9NP31-2;Q5VZS4;Q9NP31	.;.;SH22A_HUMAN	Y	327;309;337	ENSP00000357182:S327Y;ENSP00000357181:S309Y;ENSP00000376123:S337Y	ENSP00000357181:S309Y	S	-	2	0	SH2D2A	155045641	1.000000	0.71417	0.800000	0.32199	0.503000	0.33858	2.895000	0.48648	1.943000	0.56356	0.561000	0.74099	TCC		0.602	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1		NM_003975		95	240	1	0	3.82633e-55	0.00361	5.22931e-55	95	240		
CD1E	913	broad.mit.edu	37	1	158326312	158326312	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:158326312T>G	ENST00000368167.3	+	5	1168	c.929T>G	c.(928-930)cTg>cGg	p.L310R	CD1E_ENST00000368160.3_Missense_Mutation_p.L310R|CD1E_ENST00000444681.2_Missense_Mutation_p.L211R|CD1E_ENST00000368163.3_Missense_Mutation_p.L255R|CD1E_ENST00000452291.2_Missense_Mutation_p.L121R|CD1E_ENST00000368164.3_Silent_p.P86P|CD1E_ENST00000434258.1_3'UTR|CD1E_ENST00000368156.1_Missense_Mutation_p.L220R|CD1E_ENST00000368165.3_Missense_Mutation_p.L220R|CD1E_ENST00000368166.3_Missense_Mutation_p.L121R|CD1E_ENST00000368157.1_Missense_Mutation_p.L66R|CD1E_ENST00000368155.3_Missense_Mutation_p.L165R|CD1E_ENST00000368161.3_Silent_p.P275P|CD1E_ENST00000368154.1_Missense_Mutation_p.L66R	NM_030893.3	NP_112155.2	P15812	CD1E_HUMAN	CD1e molecule	310					antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTTCTCATCCTGATCTGTTTG	0.393																																						uc001fse.2		NaN																	0				skin(3)	3						c.(928-930)CTG>CGG		CD1E antigen isoform a precursor							95.0	85.0	88.0					1																	158326312		1848	4098	5946	SO:0001583	missense	913				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		g.chr1:158326312T>G	AJ289111	CCDS41417.1, CCDS41418.1, CCDS41419.1, CCDS41420.1, CCDS41421.1, CCDS41422.1, CCDS53387.1, CCDS53388.1, CCDS53389.1, CCDS53390.1, CCDS53384.1, CCDS53385.1, CCDS53386.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158488	ENSG00000158488		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1638	protein-coding gene	gene with protein product		188411	"""CD1E antigen, e polypeptide"", ""CD1e antigen"""			10948205	Standard	NM_001042585		Approved		uc001fse.3	P15812	OTTHUMG00000017515	ENST00000368167.3:c.929T>G	1.37:g.158326312T>G	ENSP00000357149:p.Leu310Arg					CD1E_uc010pid.1_3'UTR|CD1E_uc010pie.1_3'UTR|CD1E_uc010pif.1_3'UTR|CD1E_uc001fsd.2_Silent_p.P275P|CD1E_uc001fsk.2_Missense_Mutation_p.L220R|CD1E_uc001fsj.2_Missense_Mutation_p.L165R|CD1E_uc001fsc.2_Missense_Mutation_p.L121R|CD1E_uc010pig.1_RNA|CD1E_uc001fsa.2_Missense_Mutation_p.L66R|CD1E_uc001fsf.2_Missense_Mutation_p.L310R|CD1E_uc001fry.2_Missense_Mutation_p.L255R|CD1E_uc001fsg.2_Silent_p.P86P|CD1E_uc001fsh.2_Missense_Mutation_p.L121R|CD1E_uc001fsi.2_Silent_p.P275P|CD1E_uc009wsv.2_Missense_Mutation_p.L211R|CD1E_uc001frz.2_Missense_Mutation_p.L220R|CD1E_uc009wsw.2_Intron	p.L310R	NM_030893	NP_112155	P15812	CD1E_HUMAN			5	1168	+	all_hematologic(112;0.0378)		310			Helical; (Potential).		B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3	Missense_Mutation	SNP	ENST00000368167.3	37	c.929T>G	CCDS41417.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.15|15.15	2.748526|2.748526	0.49257|0.49257	.|.	.|.	ENSG00000158488|ENSG00000158488	ENST00000444681;ENST00000368167;ENST00000452291;ENST00000368165;ENST00000368166;ENST00000368163;ENST00000368157;ENST00000368160;ENST00000368156;ENST00000368155;ENST00000368154|ENST00000368162	T;T;T;T;T;T;T;T;T;T;T|.	0.60548|.	5.09;4.53;3.28;3.3;3.45;2.46;0.18;4.61;3.47;3.2;0.2|.	4.48|4.48	4.48|4.48	0.54585|0.54585	.|.	1.981920|.	0.02884|.	N|.	0.133232|.	T|.	0.21631|.	0.0521|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	D;D;D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;0.998;1.0|.	D;D;D;D;D;D;D;D;D;D|.	0.79108|.	0.987;0.992;0.978;0.97;0.988;0.98;0.983;0.978;0.962;0.978|.	T|.	0.11131|.	-1.0600|.	9|.	0.87932|.	D|.	0|.	-4.221|-4.221	10.0834|10.0834	0.42404|0.42404	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	211;220;165;121;310;310;121;66;220;255|.	E7EP01;P15812-5;P15812-7;P15812-9;P15812-2;P15812;P15812-8;P15812-11;P15812-6;P15812-4|.	.;.;.;.;.;CD1E_HUMAN;.;.;.;.|.	R|G	211;310;121;220;121;255;66;310;220;165;66|45	ENSP00000402906:L211R;ENSP00000357149:L310R;ENSP00000416228:L121R;ENSP00000357147:L220R;ENSP00000357148:L121R;ENSP00000357145:L255R;ENSP00000357139:L66R;ENSP00000357142:L310R;ENSP00000357138:L220R;ENSP00000357137:L165R;ENSP00000357136:L66R|.	ENSP00000357136:L66R|.	L|X	+|+	2|1	0|0	CD1E|CD1E	156592936|156592936	0.011000|0.011000	0.17503|0.17503	0.006000|0.006000	0.13384|0.13384	0.054000|0.054000	0.15201|0.15201	1.475000|1.475000	0.35409|0.35409	1.889000|1.889000	0.54706|0.54706	0.460000|0.460000	0.39030|0.39030	CTG|TGA		0.393	CD1E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046353.3		NM_030893		11	37	0	0	0	0.000978	0	11	37		
PPOX	5498	broad.mit.edu	37	1	161140930	161140930	+	Silent	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:161140930A>C	ENST00000367999.4	+	13	1664	c.1398A>C	c.(1396-1398)gcA>gcC	p.A466A	PPOX_ENST00000432542.2_Intron|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000352210.5_Silent_p.A466A|PPOX_ENST00000495483.1_Intron|B4GALT3_ENST00000470882.1_5'Flank|PPOX_ENST00000544598.1_Silent_p.A174A	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	466					heme biosynthetic process (GO:0006783)|oxidation-reduction process (GO:0055114)|porphyrin-containing compound biosynthetic process (GO:0006779)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of mitochondrial inner membrane (GO:0031304)|mitochondrial intermembrane space (GO:0005758)|mitochondrial membrane (GO:0031966)	flavin adenine dinucleotide binding (GO:0050660)|oxygen-dependent protoporphyrinogen oxidase activity (GO:0004729)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGCGCCAGGCAGCAGTCAGTG	0.512																																						uc001fyj.2		NaN																	0				ovary(1)	1						c.(1396-1398)GCA>GCC		protoporphyrinogen oxidase							96.0	103.0	101.0					1																	161140930		2203	4300	6503	SO:0001819	synonymous_variant	5498	Porphyria_Variegata			heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity	g.chr1:161140930A>C	BC002357	CCDS1221.1	1q22	2008-02-05			ENSG00000143224	ENSG00000143224	1.3.3.4		9280	protein-coding gene	gene with protein product		600923	"""variegate porphyria"""	VP		8575762, 10457135	Standard	NM_000309		Approved	PPO	uc001fyg.2	P50336	OTTHUMG00000034342	ENST00000367999.4:c.1398A>C	1.37:g.161140930A>C						PPOX_uc001fyn.2_Silent_p.A174A|PPOX_uc001fyg.2_Silent_p.A466A|PPOX_uc001fyl.2_Silent_p.A432A|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Silent_p.A304A|PPOX_uc001fyh.2_Silent_p.A304A|PPOX_uc010pkg.1_Silent_p.A304A|PPOX_uc009wuc.1_Silent_p.A267A|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Intron	p.A466A	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		13	1688	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		466					D3DVG0|Q5VTW8	Silent	SNP	ENST00000367999.4	37	c.1398A>C	CCDS1221.1	.	.	.	.	.	.	.	.	.	.	A	6.247	0.413675	0.11812	.	.	ENSG00000143224	ENST00000537523	.	.	.	4.99	2.47	0.30058	.	.	.	.	.	T	0.29093	0.0723	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.18398	-1.0338	4	.	.	.	-0.0015	3.014	0.06053	0.6369:0.1334:0.0859:0.1438	.	.	.	.	P	219	.	.	Q	+	2	0	PPOX	159407554	0.326000	0.24669	1.000000	0.80357	0.960000	0.62799	-0.593000	0.05740	0.890000	0.36211	0.533000	0.62120	CAG		0.512	PPOX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082993.1		NM_000309		40	174	0	0	0	0.002852	0	40	174		
NR1I3	9970	broad.mit.edu	37	1	161201118	161201118	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:161201118C>A	ENST00000367982.4	-	6	850		c.e6+1		NR1I3_ENST00000367979.2_Splice_Site|NR1I3_ENST00000502985.1_Splice_Site|NR1I3_ENST00000511676.1_Splice_Site|NR1I3_ENST00000511748.1_Splice_Site|NR1I3_ENST00000367983.4_Splice_Site|NR1I3_ENST00000508387.1_Splice_Site|NR1I3_ENST00000412844.2_Splice_Site|NR1I3_ENST00000508740.1_Splice_Site|NR1I3_ENST00000515452.1_Missense_Mutation_p.G232V|NR1I3_ENST00000437437.2_Splice_Site|NR1I3_ENST00000515621.1_Splice_Site|NR1I3_ENST00000428574.2_Splice_Site|NR1I3_ENST00000506209.1_Splice_Site|NR1I3_ENST00000504010.1_Splice_Site|NR1I3_ENST00000367984.4_Splice_Site|NR1I3_ENST00000511944.1_Splice_Site|NR1I3_ENST00000512372.1_Splice_Site|NR1I3_ENST00000367980.2_Splice_Site|NR1I3_ENST00000505005.1_Splice_Site|NR1I3_ENST00000442691.2_Splice_Site|NR1I3_ENST00000367981.3_Splice_Site|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000367985.3_Splice_Site			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3						androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACCATCTCACCACGGGCTCC	0.507																																						uc001fzx.2		NaN																	0				ovary(1)|skin(1)	2						c.e6+1		constitutive androstane receptor isoform 2							116.0	109.0	111.0					1																	161201118		2203	4300	6503	SO:0001630	splice_region_variant	9970				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr1:161201118C>A	Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.694+1G>T	1.37:g.161201118C>A						TOMM40L_uc009wuf.1_Intron|NR1I3_uc001fzf.2_Splice_Site_p.V232_splice|NR1I3_uc001fzg.2_Splice_Site_p.V203_splice|NR1I3_uc001fzh.2_Splice_Site_p.V203_splice|NR1I3_uc001fzi.2_Splice_Site_p.V203_splice|NR1I3_uc001fzj.2_Splice_Site_p.V203_splice|NR1I3_uc001fzk.2_Splice_Site_p.D203_splice|NR1I3_uc001fzl.2_Splice_Site_p.D203_splice|NR1I3_uc001fzm.2_Splice_Site_p.V157_splice|NR1I3_uc001fzn.2_Splice_Site_p.D65_splice|NR1I3_uc009wug.2_Splice_Site_p.V65_splice|NR1I3_uc001fzp.2_Splice_Site_p.V232_splice|NR1I3_uc001fzo.2_Splice_Site_p.V65_splice|NR1I3_uc001fzq.2_Splice_Site_p.V128_splice|NR1I3_uc001fzr.2_Splice_Site_p.V128_splice|NR1I3_uc001fzs.2_Splice_Site_p.D65_splice|NR1I3_uc001fzt.2_Splice_Site_p.D65_splice|NR1I3_uc001fzu.2_Splice_Site_p.V99_splice|NR1I3_uc001fzv.2_Splice_Site_p.V99_splice|NR1I3_uc001fzw.2_Splice_Site_p.V232_splice|NR1I3_uc001fzy.2_Splice_Site_p.V232_splice|NR1I3_uc001fzz.2_Splice_Site_p.A232_splice|NR1I3_uc001gaa.2_Splice_Site_p.D232_splice|NR1I3_uc001gab.2_Splice_Site_p.D232_splice|NR1I3_uc001gac.2_Splice_Site_p.V203_splice|NR1I3_uc010pkm.1_Splice_Site_p.V203_splice|NR1I3_uc010pkn.1_Missense_Mutation_p.G232V	p.V232_splice	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		6	897	-	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)							E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Splice_Site	SNP	ENST00000367982.4	37	c.694_splice	CCDS41430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.21|11.21	1.571838|1.571838	0.28003|0.28003	.|.	.|.	ENSG00000143257|ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000508387;ENST00000504010;ENST00000511676;ENST00000502985;ENST00000367981;ENST00000515621;ENST00000511944;ENST00000511748;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209|ENST00000515452	.|D	.|0.91180	.|-2.8	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|.	.|.	.|.	.|.	.|D	.|0.83119	.|0.5185	.|.	.|.	.|.	.|.	.|.	.|.	.|B	.|0.33964	.|0.434	.|B	.|0.35413	.|0.202	.|T	.|0.82307	.|-0.0522	.|7	.|0.33141	.|T	.|0.24	.|.	15.7148|15.7148	0.77658|0.77658	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|232	.|B7Z8R7	.|.	.|V	-1|232	.|ENSP00000427034:G232V	.|ENSP00000427034:G232V	.|G	-|-	.|2	.|0	NR1I3|NR1I3	159467742|159467742	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.134000|0.134000	0.20937|0.20937	3.534000|3.534000	0.53568|0.53568	2.785000|2.785000	0.95823|0.95823	0.591000|0.591000	0.81541|0.81541	.|GGT		0.507	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2			Intron	23	102	1	0	6.32553e-13	0.004656	8.10459e-13	23	102		
TNN	63923	broad.mit.edu	37	1	175086247	175086247	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:175086247G>A	ENST00000239462.4	+	10	2405	c.2292G>A	c.(2290-2292)ctG>ctA	p.L764L		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	764	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCACTGTCCTGACGGGCCTGA	0.637																																						uc001gkl.1		NaN																	0				large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(2290-2292)CTG>CTA		tenascin N precursor							93.0	85.0	87.0					1																	175086247		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086247G>A	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2292G>A	1.37:g.175086247G>A							p.L764L	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2405	+		Breast(1374;0.000962)	764			Fibronectin type-III 6.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2292G>A	CCDS30943.1																																																																																				0.637	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1		XM_040527		27	95	0	0	0	0.00632	0	27	95		
CEP350	9857	broad.mit.edu	37	1	179989993	179989993	+	Silent	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:179989993C>A	ENST00000367607.3	+	12	3502	c.3084C>A	c.(3082-3084)atC>atA	p.I1028I		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1028					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGAACCCATCAAAGAGTTTC	0.403																																						uc001gnt.2		NaN																	0				ovary(4)	4						c.(3082-3084)ATC>ATA		centrosome-associated protein 350							28.0	32.0	30.0					1																	179989993		2202	4300	6502	SO:0001819	synonymous_variant	9857					centrosome|nucleus|spindle		g.chr1:179989993C>A	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.3084C>A	1.37:g.179989993C>A						CEP350_uc009wxl.2_Silent_p.I1027I|CEP350_uc001gnu.2_Silent_p.I862I	p.I1028I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			12	3467	+			1028					O75068|Q8TDK3|Q8WY20	Silent	SNP	ENST00000367607.3	37	c.3084C>A	CCDS1336.1																																																																																				0.403	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2		NM_014810		18	46	1	0	1.33834e-09	0.007413	1.67615e-09	18	46		
DHX9	1660	broad.mit.edu	37	1	182845362	182845362	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:182845362A>G	ENST00000367549.3	+	17	2103	c.1993A>G	c.(1993-1995)Act>Gct	p.T665A		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	665	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TCTGATTTATACTATGCAGAA	0.373																																					Colon(69;210 1162 3697 13559 39565)	uc001gpr.2		NaN																	0				ovary(2)	2						c.(1993-1995)ACT>GCT		DEAH (Asp-Glu-Ala-His) box polypeptide 9							149.0	136.0	140.0					1																	182845362		1850	4083	5933	SO:0001583	missense	1660				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	g.chr1:182845362A>G	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1993A>G	1.37:g.182845362A>G	ENSP00000356520:p.Thr665Ala					DHX9_uc001gps.2_Missense_Mutation_p.T451A	p.T665A	NM_001357	NP_001348	Q08211	DHX9_HUMAN			17	2156	+			665			Helicase C-terminal.		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	37	c.1993A>G	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	A	4.625	0.116122	0.08831	.	.	ENSG00000135829	ENST00000367549	T	0.02446	4.29	5.65	5.65	0.86999	Helicase, C-terminal (2);	0.113844	0.64402	D	0.000010	T	0.01254	0.0041	N	0.02334	-0.595	0.38046	D	0.935634	B	0.06786	0.001	B	0.04013	0.001	T	0.40627	-0.9553	10	0.02654	T	1	.	10.2476	0.43350	0.9252:0.0:0.0748:0.0	.	665	Q08211	DHX9_HUMAN	A	665	ENSP00000356520:T665A	ENSP00000356520:T665A	T	+	1	0	DHX9	181111985	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.168000	0.64978	2.272000	0.75746	0.460000	0.39030	ACT		0.373	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2		NM_030588		43	126	0	0	0	0.002522	0	43	126		
PTGS2	5743	broad.mit.edu	37	1	186648486	186648486	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:186648486C>A	ENST00000367468.5	-	2	273	c.137G>T	c.(136-138)cGg>cTg	p.R46L	PTGS2_ENST00000490885.2_5'UTR|RP5-973M2.2_ENST00000608917.1_lincRNA	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	46	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|angiogenesis (GO:0001525)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|brown fat cell differentiation (GO:0050873)|cellular component movement (GO:0006928)|cellular response to ATP (GO:0071318)|cellular response to hypoxia (GO:0071456)|cellular response to mechanical stimulus (GO:0071260)|cellular response to UV (GO:0034644)|cyclooxygenase pathway (GO:0019371)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|inflammatory response (GO:0006954)|learning (GO:0007612)|lipoxygenase pathway (GO:0019372)|maintenance of blood-brain barrier (GO:0035633)|memory (GO:0007613)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of smooth muscle contraction (GO:0045986)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|ovulation (GO:0030728)|positive regulation of apoptotic process (GO:0043065)|positive regulation of brown fat cell differentiation (GO:0090336)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|positive regulation of fever generation (GO:0031622)|positive regulation of fibroblast growth factor production (GO:0090271)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of platelet-derived growth factor production (GO:0090362)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasoconstriction (GO:0045907)|positive regulation vascular endothelial growth factor production (GO:0010575)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|regulation of blood pressure (GO:0008217)|regulation of inflammatory response (GO:0050727)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to fatty acid (GO:0070542)|response to fructose (GO:0009750)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to lithium ion (GO:0010226)|response to manganese ion (GO:0010042)|response to oxidative stress (GO:0006979)|response to tumor necrosis factor (GO:0034612)|response to vitamin D (GO:0033280)|sensory perception of pain (GO:0019233)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|neuron projection (GO:0043005)|nucleus (GO:0005634)|protein complex (GO:0043234)	arachidonate 15-lipoxygenase activity (GO:0050473)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Aldesleukin(DB00041)|Aminosalicylic Acid(DB00233)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bromfenac(DB00963)|Bumetanide(DB00887)|Carprofen(DB00821)|Celecoxib(DB00482)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Clodronate(DB00720)|Dapsone(DB00250)|Desmopressin(DB00035)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Drospirenone(DB01395)|Etanercept(DB00005)|Etodolac(DB00749)|Etoposide(DB00773)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nonoxynol-9(DB06804)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pomalidomide(DB08910)|Risedronate(DB00884)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tafluprost(DB08819)|Tenoxicam(DB00469)|Tetrahydrobiopterin(DB00360)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Triamcinolone(DB00620)|Trisalicylate-choline(DB01401)	GAATCCTGTCCGGGTACAATC	0.438																																						uc001gsb.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(136-138)CGG>CTG		prostaglandin-endoperoxide synthase 2 precursor	Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)						135.0	114.0	121.0					1																	186648486		2203	4300	6503	SO:0001583	missense	5743				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	g.chr1:186648486C>A	D28235	CCDS1371.1	1q25.2-q25.3	2008-02-05			ENSG00000073756	ENSG00000073756	1.14.99.1		9605	protein-coding gene	gene with protein product		600262				1380156	Standard	NM_000963		Approved	COX2	uc001gsb.3	P35354	OTTHUMG00000035473	ENST00000367468.5:c.137G>T	1.37:g.186648486C>A	ENSP00000356438:p.Arg46Leu					PTGS2_uc009wyo.2_5'UTR	p.R46L	NM_000963	NP_000954	P35354	PGH2_HUMAN			2	274	-			46			EGF-like.		A8K802|Q16876	Missense_Mutation	SNP	ENST00000367468.5	37	c.137G>T	CCDS1371.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.153825	0.78114	.	.	ENSG00000073756	ENST00000367468	T	0.69040	-0.37	5.27	5.27	0.74061	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.050276	0.85682	D	0.000000	T	0.64538	0.2607	L	0.42245	1.32	0.80722	D	1	B	0.23806	0.091	B	0.29440	0.102	T	0.64330	-0.6433	10	0.87932	D	0	-18.2304	18.5108	0.90916	0.0:1.0:0.0:0.0	.	46	P35354	PGH2_HUMAN	L	46	ENSP00000356438:R46L	ENSP00000356438:R46L	R	-	2	0	PTGS2	184915109	0.959000	0.32827	0.967000	0.41034	0.992000	0.81027	4.712000	0.61888	2.444000	0.82710	0.655000	0.94253	CGG		0.438	PTGS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086157.2		NM_000963		24	55	1	0	4.4004e-07	0.00333	5.43251e-07	24	55		
CFH	3075	broad.mit.edu	37	1	196712595	196712595	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:196712595G>A	ENST00000367429.4	+	20	3387	c.3147G>A	c.(3145-3147)gtG>gtA	p.V1049V		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1049	Sushi 18. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCTCCTGTGTGAATCCGCCCA	0.373																																						uc001gtj.3		NaN																	0				skin(4)|ovary(1)|breast(1)	6						c.(3145-3147)GTG>GTA		complement factor H isoform a precursor							129.0	125.0	127.0					1																	196712595		2203	4300	6503	SO:0001819	synonymous_variant	3075				complement activation, alternative pathway	extracellular space		g.chr1:196712595G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3147G>A	1.37:g.196712595G>A							p.V1049V	NM_000186	NP_000177	P08603	CFAH_HUMAN			20	3387	+			1049			Sushi 18.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	ENST00000367429.4	37	c.3147G>A	CCDS1385.1																																																																																				0.373	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086412.2		NM_000186		22	115	0	0	0	0.002299	0	22	115		
BTG2	7832	broad.mit.edu	37	1	203276382	203276382	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			G	C	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:203276382G>C	ENST00000290551.4	+	2	364	c.293G>C	c.(292-294)aGc>aCc	p.S98T	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	98					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			CTGCTGCCCAGCGAGCTGACC	0.642																																						uc001gzq.2		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(292-294)AGC>ACC		B-cell translocation gene 2							46.0	48.0	48.0					1																	203276382		2203	4300	6503	SO:0001583	missense	7832				DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr1:203276382G>C		CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.293G>C	1.37:g.203276382G>C	ENSP00000290551:p.Ser98Thr					FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA	p.S98T	NM_006763	NP_006754	P78543	BTG2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.203)		2	364	+			98					A0A024R986|Q3KR25|Q5VUT0	Missense_Mutation	SNP	ENST00000290551.4	37	c.293G>C	CCDS1437.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.824342	0.50739	.	.	ENSG00000159388	ENST00000290551	T	0.25250	1.81	5.06	5.06	0.68205	Anti-proliferative protein (4);	0.292518	0.33691	N	0.004656	T	0.31857	0.0810	M	0.77616	2.38	0.37852	D	0.929403	B	0.16603	0.018	B	0.23852	0.049	T	0.28554	-1.0040	10	0.52906	T	0.07	-38.2301	10.6221	0.45487	0.0896:0.0:0.9104:0.0	.	98	P78543	BTG2_HUMAN	T	98	ENSP00000290551:S98T	ENSP00000290551:S98T	S	+	2	0	BTG2	201543005	1.000000	0.71417	0.990000	0.47175	0.934000	0.57294	7.690000	0.84178	2.360000	0.80028	0.313000	0.20887	AGC		0.642	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1		NM_006763		17	80	0	0	0	0.004007	0	17	80		
KLHDC8A	55220	broad.mit.edu	37	1	205312535	205312535	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:205312535G>C	ENST00000367156.3	-	5	1014	c.198C>G	c.(196-198)ccC>ccG	p.P66P	KLHDC8A_ENST00000539253.1_Silent_p.P66P|KLHDC8A_ENST00000367155.3_Silent_p.P66P|KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000606529.1_5'Flank	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	66										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCGGGCTGTGGGCAGCCGGG	0.677																																						uc001hcf.1		NaN																	0				ovary(1)	1						c.(196-198)CCC>CCG		kelch domain containing 8A							45.0	49.0	48.0					1																	205312535		2203	4298	6501	SO:0001819	synonymous_variant	55220							g.chr1:205312535G>C		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.198C>G	1.37:g.205312535G>C						KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Silent_p.P66P	p.P66P	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		2	766	-	Breast(84;0.23)		66			Kelch 2.		B3KU70|Q9NVG5	Silent	SNP	ENST00000367156.3	37	c.198C>G	CCDS30985.1																																																																																				0.677	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1		NM_018203		39	94	0	0	0	0.006999	0	39	94		
SRGAP2	23380	broad.mit.edu	37	1	206628299	206628299	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:206628299G>A	ENST00000414007.1	+	17	2016	c.2016G>A	c.(2014-2016)gtG>gtA	p.V672V	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Silent_p.V117V			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	812	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					AAGAAAAGGTGACAGCCAGAG	0.552																																						uc001hdy.2		NaN																	0					0						c.(2173-2175)GTG>GTA		SLIT-ROBO Rho GTPase activating protein 2							78.0	89.0	85.0					1																	206628299		1953	4148	6101	SO:0001819	synonymous_variant	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206628299G>A	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2016G>A	1.37:g.206628299G>A						SRGAP2_uc001hdx.2_Silent_p.V725V|SRGAP2_uc010pru.1_Silent_p.V648V	p.V725V	NM_015326	NP_056141	O75044	FNBP2_HUMAN			18	2508	+	Breast(84;0.137)		812						Silent	SNP	ENST00000414007.1	37	c.2175G>A		.	.	.	.	.	.	.	.	.	.	G	7.289	0.610668	0.14066	.	.	ENSG00000163486	ENST00000295713	.	.	.	5.91	5.0	0.66597	.	.	.	.	.	T	0.56587	0.1995	.	.	.	0.31099	N	0.710612	.	.	.	.	.	.	T	0.66360	-0.5943	3	.	.	.	.	11.2646	0.49104	0.0:0.1376:0.7194:0.143	.	.	.	.	N	726	.	.	D	+	1	0	SRGAP2	204694922	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.033000	0.57282	1.495000	0.48549	0.655000	0.94253	GAC		0.552	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding			NM_015326		35	87	0	0	0	0.003755	0	35	87		
SRGAP2	23380	broad.mit.edu	37	1	206628307	206628307	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:206628307G>T	ENST00000414007.1	+	17	2024	c.2024G>T	c.(2023-2025)aGa>aTa	p.R675I	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Missense_Mutation_p.R120I			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	815	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GTGACAGCCAGAGCGGGGGCC	0.537																																						uc001hdy.2		NaN																	0					0						c.(2182-2184)AGA>ATA		SLIT-ROBO Rho GTPase activating protein 2							80.0	91.0	88.0					1																	206628307		1935	4133	6068	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206628307G>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.2024G>T	1.37:g.206628307G>T	ENSP00000390898:p.Arg675Ile					SRGAP2_uc001hdx.2_Missense_Mutation_p.R728I|SRGAP2_uc010pru.1_Missense_Mutation_p.R651I	p.R728I	NM_015326	NP_056141	O75044	FNBP2_HUMAN			18	2516	+	Breast(84;0.137)		815						Missense_Mutation	SNP	ENST00000414007.1	37	c.2183G>T		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	25.2|25.2|25.2	4.609497|4.609497|4.609497	0.87258|0.87258|0.87258	.|.|.	.|.|.	ENSG00000163486|ENSG00000163486|ENSG00000163486	ENST00000426388|ENST00000295713|ENST00000414007;ENST00000419187;ENST00000439126	.|.|T;T;T	.|.|0.36157	.|.|2.97;1.27;2.57	5.91|5.91|5.91	5.91|5.91|5.91	0.95273|0.95273|0.95273	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	.|T|T	.|0.60011|0.60011	.|0.2236|0.2236	.|.|.	.|.|.	.|.|.	.|.|0.47183	.|.|D	.|.|0.999345	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.60021|0.60021	.|-0.7344|-0.7344	.|3|6	.|.|0.62326	.|.|D	.|.|0.03	.|.|.	19.2934|19.2934|19.2934	0.94112|0.94112|0.94112	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|H|I	98|728|675;120;429	.|.|ENSP00000390898:R675I;ENSP00000397990:R120I;ENSP00000403036:R429I	.|.|ENSP00000390898:R675I	E|Q|R	+|+|+	1|3|2	0|2|0	SRGAP2|SRGAP2|SRGAP2	204694930|204694930|204694930	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	9.175000|9.175000|9.175000	0.94831|0.94831|0.94831	2.808000|2.808000|2.808000	0.96608|0.96608|0.96608	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAG|CAG|AGA		0.537	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding			NM_015326		38	91	1	0	1.58521e-26	0.005524	2.12543e-26	38	91		
TLR5	7100	broad.mit.edu	37	1	223285245	223285245	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:223285245C>T	ENST00000540964.1	-	4	1590	c.1129G>A	c.(1129-1131)Gac>Aac	p.D377N	TLR5_ENST00000342210.6_Missense_Mutation_p.D377N			O60602	TLR5_HUMAN	toll-like receptor 5	377					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AATGTTTGGTCTTGAATTATT	0.368																																						uc001hnv.1		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(1129-1131)GAC>AAC		toll-like receptor 5 precursor							104.0	101.0	102.0					1																	223285245		2203	4300	6503	SO:0001583	missense	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285245C>T		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1129G>A	1.37:g.223285245C>T	ENSP00000440643:p.Asp377Asn					TLR5_uc001hnw.1_Missense_Mutation_p.D377N	p.D377N	NM_003268	NP_003259	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1575	-			377			Extracellular (Potential).|LRR 8.		B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Missense_Mutation	SNP	ENST00000540964.1	37	c.1129G>A	CCDS31033.1	.	.	.	.	.	.	.	.	.	.	C	4.704	0.130964	0.08981	.	.	ENSG00000187554	ENST00000540964;ENST00000366881;ENST00000342210	T;T;T	0.24538	1.85;1.85;1.85	5.55	-1.77	0.07982	.	0.734868	0.13584	N	0.377114	T	0.21103	0.0508	L	0.59436	1.845	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.23368	-1.0190	10	0.44086	T	0.13	.	6.4587	0.21944	0.0:0.4446:0.2159:0.3395	.	377	O60602	TLR5_HUMAN	N	377	ENSP00000440643:D377N;ENSP00000355846:D377N;ENSP00000340089:D377N	ENSP00000340089:D377N	D	-	1	0	TLR5	221351868	0.000000	0.05858	0.000000	0.03702	0.290000	0.27261	-1.679000	0.01940	-0.189000	0.10482	0.644000	0.83932	GAC		0.368	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_003268		25	88	0	0	0	0.00278	0	25	88		
IBA57	200205	broad.mit.edu	37	1	228362831	228362831	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:228362831G>C	ENST00000366711.3	+	3	690	c.688G>C	c.(688-690)Gag>Cag	p.E230Q	IBA57_ENST00000484749.1_3'UTR|IBA57_ENST00000546123.1_Missense_Mutation_p.E37Q	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	230					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						AGGCGTTCCTGAGGGGGTCCG	0.627																																						uc001hsl.3		NaN																	0					0						c.(688-690)GAG>CAG		hypothetical protein LOC200205 precursor							46.0	51.0	49.0					1																	228362831		2203	4300	6503	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362831G>C	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.688G>C	1.37:g.228362831G>C	ENSP00000355672:p.Glu230Gln					C1orf69_uc010pvw.1_Missense_Mutation_p.E37Q	p.E230Q	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN			3	777	+		Prostate(94;0.0405)	230						Missense_Mutation	SNP	ENST00000366711.3	37	c.688G>C	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882918	0.91740	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.75154	-0.91;0.89	5.5	5.5	0.81552	YgfZ/GcvT conserved site (1);Glycine cleavage T-protein, N-terminal (1);	0.102951	0.64402	D	0.000004	D	0.89188	0.6644	M	0.89601	3.045	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.90014	0.4123	10	0.51188	T	0.08	-28.8069	19.3799	0.94529	0.0:0.0:1.0:0.0	.	230	Q5T440	CAF17_HUMAN	Q	230;37	ENSP00000355672:E230Q;ENSP00000437347:E37Q	ENSP00000355672:E230Q	E	+	1	0	IBA57	226429454	1.000000	0.71417	0.981000	0.43875	0.686000	0.39977	7.396000	0.79891	2.584000	0.87258	0.655000	0.94253	GAG		0.627	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1		NM_001010867		28	83	0	0	0	0.007291	0	28	83		
TRIM67	440730	broad.mit.edu	37	1	231342533	231342533	+	Missense_Mutation	SNP	G	G	A	rs372935882		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:231342533G>A	ENST00000366653.5	+	7	1816	c.1816G>A	c.(1816-1818)Gat>Aat	p.D606N	TRIM67_ENST00000366652.2_Missense_Mutation_p.D606N|TRIM67_ENST00000444294.3_Missense_Mutation_p.D604N|TRIM67_ENST00000449018.3_Missense_Mutation_p.D544N			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	606	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GCAGACATCCGATGGTGAGCA	0.502																																						uc009xfn.1		NaN																	0				ovary(2)|breast(1)|kidney(1)	4						c.(1816-1818)GAT>AAT		tripartite motif-containing 67		G	ASN/ASP	0,4002		0,0,2001	66.0	70.0	69.0		1816	5.5	0.6	1		69	1,8381		0,1,4190	no	missense	TRIM67	NM_001004342.3	23	0,1,6191	AA,AG,GG		0.0119,0.0,0.0081	benign	606/784	231342533	1,12383	2001	4191	6192	SO:0001583	missense	440730					cytoplasm|cytoskeleton	zinc ion binding	g.chr1:231342533G>A	AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1816G>A	1.37:g.231342533G>A	ENSP00000355613:p.Asp606Asn						p.D606N	NM_001004342	NP_001004342	Q6ZTA4	TRI67_HUMAN			7	1858	+	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)	606			B30.2/SPRY.		Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	c.1816G>A	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314571	0.81358	0.0	1.19E-4	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Fibronectin, type III (1);B30.2/SPRY domain (1);Immunoglobulin-like fold (1);	0.049500	0.85682	D	0.000000	T	0.59891	0.2227	N	0.24115	0.695	0.80722	D	1	B	0.31009	0.303	B	0.24848	0.056	T	0.59300	-0.7480	10	0.48119	T	0.1	.	19.7611	0.96319	0.0:0.0:1.0:0.0	.	606	Q6ZTA4	TRI67_HUMAN	N	604;606;544;606	ENSP00000412124:D604N;ENSP00000355612:D606N;ENSP00000400163:D544N;ENSP00000355613:D606N	ENSP00000355612:D606N	D	+	1	0	TRIM67	229409156	1.000000	0.71417	0.578000	0.28575	0.546000	0.35178	9.658000	0.98594	2.741000	0.93983	0.655000	0.94253	GAT		0.502	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3		NM_001004342		15	35	0	0	0	0.00499	0	15	35		
CNST	163882	broad.mit.edu	37	1	246810471	246810471	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:246810471G>T	ENST00000366513.4	+	9	1237	c.968G>T	c.(967-969)aGt>aTt	p.S323I	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.S323I	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	323					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						ACAGAGTCAAGTAAAGAAAGC	0.428											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ibp.2		NaN																	0					0						c.(967-969)AGT>ATT		hypothetical protein LOC163882 isoform 1							67.0	72.0	70.0					1																	246810471		2203	4300	6503	SO:0001583	missense	163882				positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding	g.chr1:246810471G>T	AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.968G>T	1.37:g.246810471G>T	ENSP00000355470:p.Ser323Ile		OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2468	CNST_uc001ibo.3_Missense_Mutation_p.S323I	p.S323I	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN			9	1346	+			323					Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	ENST00000366513.4	37	c.968G>T	CCDS1628.1	.	.	.	.	.	.	.	.	.	.	G	8.846	0.943516	0.18281	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.19250	2.16;2.16	5.43	1.42	0.22433	.	1.318270	0.04437	N	0.370191	T	0.09335	0.0230	N	0.02011	-0.69	0.09310	N	0.999999	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.26950	-1.0088	10	0.39692	T	0.17	-13.3505	7.3119	0.26479	0.2099:0.0:0.6561:0.134	.	323;323	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	I	323	ENSP00000355470:S323I;ENSP00000355469:S323I	ENSP00000355469:S323I	S	+	2	0	CNST	244877094	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	0.763000	0.26517	0.346000	0.23899	-1.314000	0.01303	AGT		0.428	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096780.1		NM_152609		24	85	1	0	1.5548e-18	0.005443	2.03561e-18	24	85		
OR2G2	81470	broad.mit.edu	37	1	247752379	247752379	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:247752379G>A	ENST00000320065.1	+	1	718	c.718G>A	c.(718-720)Gca>Aca	p.A240T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAGACAGAAAGCATTCGGGAC	0.493																																						uc010pyy.1		NaN																	0					0						c.(718-720)GCA>ACA		olfactory receptor, family 2, subfamily G,							148.0	134.0	139.0					1																	247752379		2203	4300	6503	SO:0001583	missense	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752379G>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.718G>A	1.37:g.247752379G>A	ENSP00000326349:p.Ala240Thr						p.A240T	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	718	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		240			Helical; Name=6; (Potential).		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	ENST00000320065.1	37	c.718G>A	CCDS31092.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.107772	0.56291	.	.	ENSG00000177489	ENST00000320065	T	0.00357	7.89	4.29	4.29	0.51040	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37012	U	0.002291	T	0.00695	0.0023	M	0.76170	2.325	0.30026	N	0.813866	D	0.63046	0.992	D	0.65233	0.933	T	0.39840	-0.9594	10	0.72032	D	0.01	.	14.3294	0.66545	0.0:0.0:1.0:0.0	.	240	Q8NGZ5	OR2G2_HUMAN	T	240	ENSP00000326349:A240T	ENSP00000326349:A240T	A	+	1	0	OR2G2	245819002	0.998000	0.40836	0.192000	0.23308	0.415000	0.31203	3.569000	0.53827	2.206000	0.71126	0.591000	0.81541	GCA		0.493	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1				28	93	0	0	0	0.00632	0	28	93		
OR2G3	81469	broad.mit.edu	37	1	247769738	247769738	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:247769738C>T	ENST00000320002.2	+	1	883	c.851C>T	c.(850-852)aCt>aTt	p.T284I	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA|RNU6-691P_ENST00000516585.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	284						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(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTGACCCCCACTTTAAATCCT	0.433																																						uc010pyz.1		NaN																	0				central_nervous_system(1)	1						c.(850-852)ACT>ATT		olfactory receptor, family 2, subfamily G,							89.0	84.0	86.0					1																	247769738		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769738C>T	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.851C>T	1.37:g.247769738C>T	ENSP00000326301:p.Thr284Ile						p.T284I	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	851	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		284			Helical; Name=7; (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.851C>T	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	4.976	0.181223	0.09495	.	.	ENSG00000177476	ENST00000320002	T	0.36878	1.23	3.65	0.592	0.17471	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37623	U	0.002006	T	0.22975	0.0555	L	0.45285	1.41	0.09310	N	1	B	0.14012	0.009	B	0.09377	0.004	T	0.10497	-1.0627	10	0.37606	T	0.19	.	3.1019	0.06329	0.0:0.4413:0.2185:0.3402	.	284	Q8NGZ4	OR2G3_HUMAN	I	284	ENSP00000326301:T284I	ENSP00000326301:T284I	T	+	2	0	OR2G3	245836361	0.000000	0.05858	0.081000	0.20488	0.947000	0.59692	0.427000	0.21379	0.306000	0.22856	0.492000	0.49549	ACT		0.433	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1				26	98	0	0	0	0.005443	0	26	98		
OR11L1	391189	broad.mit.edu	37	1	248004726	248004726	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:248004726A>T	ENST00000355784.2	-	1	528	c.473T>A	c.(472-474)cTg>cAg	p.L158Q		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	158						extracellular vesicular exosome (GO:0070062)|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(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGGGAAGGCAGAAAGCCTGT	0.577																																						uc001idn.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(472-474)CTG>CAG		olfactory receptor, family 11, subfamily L,							84.0	83.0	83.0					1																	248004726		2203	4300	6503	SO:0001583	missense	391189				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248004726A>T	AB065646	CCDS31098.1	1q44	2013-09-24			ENSG00000197591	ENSG00000197591		"""GPCR / Class A : Olfactory receptors"""	14998	protein-coding gene	gene with protein product							Standard	NM_001001959		Approved		uc001idn.1	Q8NGX0	OTTHUMG00000040193	ENST00000355784.2:c.473T>A	1.37:g.248004726A>T	ENSP00000348033:p.Leu158Gln						p.L158Q	NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	473	-	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		158			Helical; Name=4; (Potential).			Missense_Mutation	SNP	ENST00000355784.2	37	c.473T>A	CCDS31098.1	.	.	.	.	.	.	.	.	.	.	A	15.14	2.744032	0.49151	.	.	ENSG00000197591	ENST00000355784	T	0.40756	1.02	4.42	4.42	0.53409	GPCR, rhodopsin-like superfamily (1);	0.307323	0.17778	U	0.162355	T	0.63367	0.2505	M	0.78223	2.4	0.09310	N	0.999993	P	0.48230	0.907	P	0.62649	0.905	T	0.56829	-0.7914	10	0.62326	D	0.03	.	13.7961	0.63171	1.0:0.0:0.0:0.0	.	158	Q8NGX0	O11L1_HUMAN	Q	158	ENSP00000348033:L158Q	ENSP00000348033:L158Q	L	-	2	0	OR11L1	246071349	0.000000	0.05858	0.928000	0.36995	0.587000	0.36485	0.802000	0.27069	1.983000	0.57843	0.443000	0.29094	CTG		0.577	OR11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096850.1		NM_001001959		33	103	0	0	0	0.002836	0	33	103		
TRIM58	25893	broad.mit.edu	37	1	248020677	248020677	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:248020677C>T	ENST00000366481.3	+	1	177	c.129C>T	c.(127-129)ttC>ttT	p.F43F		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	43						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)			TCTCCGAGTTCTGCGAGAAGT	0.711																																						uc001ido.2		NaN																	0				skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)	7						c.(127-129)TTC>TTT		tripartite motif-containing 58							14.0	15.0	15.0					1																	248020677		2201	4297	6498	SO:0001819	synonymous_variant	25893					intracellular	zinc ion binding	g.chr1:248020677C>T	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.129C>T	1.37:g.248020677C>T							p.F43F	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		1	177	+	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)	43			RING-type.		Q6B0H9	Silent	SNP	ENST00000366481.3	37	c.129C>T	CCDS1636.1																																																																																				0.711	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1		NM_015431		6	14	0	0	0	0.00308	0	6	14		
VIM	7431	broad.mit.edu	37	10	17275816	17275816	+	Silent	SNP	C	C	T	rs377349430		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:17275816C>T	ENST00000224237.5	+	4	913	c.768C>T	c.(766-768)atC>atT	p.I256I	RP11-124N14.3_ENST00000456355.1_RNA|VIM_ENST00000544301.1_Silent_p.I256I			P08670	VIME_HUMAN	vimentin	256	Linker 12.|Rod.				apoptotic process (GO:0006915)|astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular component movement (GO:0006928)|intermediate filament organization (GO:0045109)|lens fiber cell development (GO:0070307)|muscle filament sliding (GO:0030049)|negative regulation of neuron projection development (GO:0010977)|positive regulation of gene expression (GO:0010628)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|neuron projection (GO:0043005)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	double-stranded RNA binding (GO:0003725)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGTCCAAATCGATGTGGATG	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17802	0.0		0.0	False		,,,				2504	0.0					uc001iou.2		NaN																	0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(766-768)ATC>ATT		vimentin		C		1,4405	2.1+/-5.4	0,1,2202	88.0	77.0	81.0		768	-3.4	0.7	10		81	0,8600		0,0,4300	no	coding-synonymous	VIM	NM_003380.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		256/467	17275816	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7431				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton	g.chr10:17275816C>T	M14144	CCDS7120.1	10p13	2013-01-16			ENSG00000026025	ENSG00000026025		"""Intermediate filaments type III"""	12692	protein-coding gene	gene with protein product		193060					Standard	NM_003380		Approved		uc001iou.2	P08670	OTTHUMG00000017744	ENST00000224237.5:c.768C>T	10.37:g.17275816C>T						VIM_uc001iov.1_Silent_p.I256I|VIM_uc001iow.1_RNA|VIM_uc001iox.1_Silent_p.I256I|VIM_uc001ioy.1_Silent_p.I256I|VIM_uc001ioz.1_RNA|VIM_uc001ipb.1_RNA|VIM_uc009xjv.1_Silent_p.I256I|VIM_uc001ipc.1_Silent_p.I256I	p.I256I	NM_003380	NP_003371	P08670	VIME_HUMAN			5	1181	+			256			Rod.|Linker 12.		B0YJC2|D3DRU4|Q15867|Q15868|Q15869|Q548L2|Q6LER9|Q8N850|Q96ML2|Q9NTM3	Silent	SNP	ENST00000224237.5	37	c.768C>T	CCDS7120.1																																																																																				0.537	VIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047015.1		NM_003380		64	91	0	0	0	0.00361	0	64	91		
SLC39A12	221074	broad.mit.edu	37	10	18242459	18242459	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:18242459G>A	ENST00000377369.2	+	2	527	c.254G>A	c.(253-255)tGc>tAc	p.C85Y	SLC39A12_ENST00000377371.3_Missense_Mutation_p.C85Y|SLC39A12_ENST00000377374.4_Missense_Mutation_p.C85Y|SLC39A12_ENST00000539911.1_Intron	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	85					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CAAGGAGATTGCAATCTGGTT	0.453																																						uc001ipo.2		NaN																	0				ovary(1)|breast(1)	2						c.(253-255)TGC>TAC		solute carrier family 39 (zinc transporter),							56.0	55.0	55.0					10																	18242459		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18242459G>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.254G>A	10.37:g.18242459G>A	ENSP00000366586:p.Cys85Tyr					SLC39A12_uc001ipn.2_Missense_Mutation_p.C85Y|SLC39A12_uc001ipp.2_Missense_Mutation_p.C85Y|SLC39A12_uc010qck.1_Intron	p.C85Y	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN			2	527	+			85			Extracellular (Potential).		B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.254G>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444120	0.43429	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000425219	T;T;T	0.23552	1.9;1.9;1.9	5.6	5.6	0.85130	.	0.102433	0.64402	D	0.000002	T	0.54743	0.1877	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.56908	-0.7901	10	0.87932	D	0	-11.8278	19.6251	0.95674	0.0:0.0:1.0:0.0	.	85;85;85	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	Y	85;85;85;5	ENSP00000366586:C85Y;ENSP00000366591:C85Y;ENSP00000366588:C85Y	ENSP00000366586:C85Y	C	+	2	0	SLC39A12	18282465	1.000000	0.71417	0.129000	0.21949	0.042000	0.13812	6.770000	0.74990	2.636000	0.89361	0.655000	0.94253	TGC		0.453	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_152725		29	63	0	0	0	0.00632	0	29	63		
YME1L1	10730	broad.mit.edu	37	10	27415685	27415685	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:27415685C>A	ENST00000326799.3	-	10	1208	c.1060G>T	c.(1060-1062)Gtt>Ttt	p.V354F	YME1L1_ENST00000375972.3_Missense_Mutation_p.V264F|YME1L1_ENST00000463270.1_5'UTR|YME1L1_ENST00000376016.3_Missense_Mutation_p.V297F	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	354					cell proliferation (GO:0008283)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrion organization (GO:0007005)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AATTCAACAACTTCCTGTAAT	0.318																																						uc001iti.2		NaN																	0				ovary(1)	1						c.(1060-1062)GTT>TTT		YME1-like 1 isoform 1							50.0	49.0	50.0					10																	27415685		2200	4293	6493	SO:0001583	missense	10730				protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	g.chr10:27415685C>A	AJ132637	CCDS7151.1, CCDS7152.1, CCDS58072.1	10p14	2013-06-10	2013-06-10		ENSG00000136758	ENSG00000136758		"""ATPases / AAA-type"""	12843	protein-coding gene	gene with protein product		607472	"""YME1 (S.cerevisiae)-like 1"", ""YME1-like 1 (S. cerevisiae)"""			22262461	Standard	NM_139312		Approved		uc001itj.3	Q96TA2	OTTHUMG00000017853	ENST00000326799.3:c.1060G>T	10.37:g.27415685C>A	ENSP00000318480:p.Val354Phe					YME1L1_uc001itj.2_Missense_Mutation_p.V297F|YME1L1_uc010qdl.1_Missense_Mutation_p.V264F|YME1L1_uc009xkv.2_RNA	p.V354F	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN			10	1242	-			354					B4DNM1|D3DRV8|D3DRV9|Q5T8D9|Q9H1Q0|Q9UMR9	Missense_Mutation	SNP	ENST00000326799.3	37	c.1060G>T	CCDS7152.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.047416	0.93740	.	.	ENSG00000136758	ENST00000376016;ENST00000326799;ENST00000375969;ENST00000375972;ENST00000546122	T;T;T	0.48836	0.8;0.8;0.8	5.04	5.04	0.67666	Peptidase M41, FtsH (2);	0.000000	0.85682	D	0.000000	T	0.61362	0.2341	L	0.38649	1.16	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.80764	0.994;0.981;0.98	T	0.65047	-0.6263	10	0.87932	D	0	-19.2412	18.743	0.91780	0.0:1.0:0.0:0.0	.	264;297;354	B4DNM1;Q96TA2-2;Q96TA2	.;.;YMEL1_HUMAN	F	297;354;354;264;100	ENSP00000365184:V297F;ENSP00000318480:V354F;ENSP00000365139:V264F	ENSP00000318480:V354F	V	-	1	0	YME1L1	27455691	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.784000	0.68990	2.469000	0.83416	0.591000	0.81541	GTT		0.318	YME1L1-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047306.1		NM_139312		7	45	1	0	8.12818e-05	0.001984	9.90901e-05	7	45		
GPRIN2	9721	broad.mit.edu	37	10	46999257	46999257	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:46999257G>A	ENST00000374317.1	+	3	650	c.377G>A	c.(376-378)cGt>cAt	p.R126H	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R126H	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	126										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GACCTGGTCCGTAGCACCCAG	0.642																																						uc001jec.2		NaN																	0					0						c.(376-378)CGT>CAT		G protein-regulated inducer of neurite outgrowth							45.0	35.0	39.0					10																	46999257		2203	4300	6503	SO:0001583	missense	9721							g.chr10:46999257G>A	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.377G>A	10.37:g.46999257G>A	ENSP00000363436:p.Arg126His					GPRIN2_uc010qfq.1_5'Flank	p.R126H	NM_014696	NP_055511	O60269	GRIN2_HUMAN			3	512	+			126					Q5SVF0	Missense_Mutation	SNP	ENST00000374317.1	37	c.377G>A	CCDS31192.1	.	.	.	.	.	.	.	.	.	.	G	9.328	1.059853	0.19987	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03272	3.99;3.99	5.49	-4.19	0.03835	.	0.676487	0.13048	N	0.417952	T	0.01905	0.0060	N	0.16066	0.365	0.09310	N	1	B	0.24651	0.108	B	0.18871	0.023	T	0.45556	-0.9253	10	0.27082	T	0.32	-0.8202	7.8325	0.29351	0.6318:0.1322:0.236:0.0	.	126	O60269	GRIN2_HUMAN	H	126	ENSP00000363436:R126H;ENSP00000363433:R126H	ENSP00000363433:R126H	R	+	2	0	GPRIN2	46419263	0.000000	0.05858	0.000000	0.03702	0.903000	0.53119	0.085000	0.14912	-0.414000	0.07495	-0.355000	0.07637	CGT		0.642	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1		NM_014696		8	55	0	0	0	0.00308	0	8	55		
C10orf53	282966	broad.mit.edu	37	10	50916482	50916482	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:50916482G>C	ENST00000374112.3	+	3	305	c.293G>C	c.(292-294)tGt>tCt	p.C98S	C10orf53_ENST00000535836.1_Missense_Mutation_p.C98S	NM_182554.2	NP_872360.2	Q8N6V4	CJ053_HUMAN	chromosome 10 open reading frame 53	0										endometrium(1)|lung(6)	7		all_neural(218;0.107)				agcagcccgtgtaggatgaaa	0.488																																						uc001jid.1		NaN																	0					0						c.(292-294)TGT>TCT		chromosome 10 open reading frame 53 isoform a							141.0	130.0	133.0					10																	50916482		2203	4300	6503	SO:0001583	missense	282966							g.chr10:50916482G>C	BC028127	CCDS31202.1, CCDS41521.1	10q11.23	2012-05-24			ENSG00000178645	ENSG00000178645			27421	protein-coding gene	gene with protein product						12477932	Standard	NM_182554		Approved	Em:AC069546.1	uc001jid.1	Q8N6V4	OTTHUMG00000018199	ENST00000374112.3:c.293G>C	10.37:g.50916482G>C	ENSP00000363226:p.Cys98Ser						p.C98S	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN			3	353	+		all_neural(218;0.107)	Error:Variant_position_missing_in_Q8N6V4_after_alignment					A6NI81|A6NLE0|B9ZVK6	Missense_Mutation	SNP	ENST00000374112.3	37	c.293G>C	CCDS31202.1	.	.	.	.	.	.	.	.	.	.	G	7.007	0.556087	0.13436	.	.	ENSG00000178645	ENST00000374112;ENST00000535836	.	.	.	2.14	0.178	0.15058	.	.	.	.	.	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20672	-1.0268	8	0.87932	D	0	.	4.419	0.11470	0.3584:0.0:0.6416:0.0	.	98	B9ZVK6	.	S	98	.	ENSP00000363226:C98S	C	+	2	0	C10orf53	50586488	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.187000	0.16998	0.040000	0.15660	-0.339000	0.08088	TGT		0.488	C10orf53-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048006.1		NM_182554		65	151	0	0	0	0.00361	0	65	151		
HK1	3098	broad.mit.edu	37	10	71129055	71129055	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:71129055C>T	ENST00000359426.6	+	6	758	c.654C>T	c.(652-654)ggC>ggT	p.G218G	HK1_ENST00000448642.2_Silent_p.G253G|HK1_ENST00000360289.2_Silent_p.G206G|HK1_ENST00000404387.2_Silent_p.G222G|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Silent_p.G217G	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	218	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TGACCTGTGGCTATGACGACC	0.537																																						uc001jpl.3		NaN																	0				ovary(1)	1						c.(652-654)GGC>GGT		hexokinase 1 isoform HKI							253.0	193.0	213.0					10																	71129055		2203	4300	6503	SO:0001819	synonymous_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71129055C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.654C>T	10.37:g.71129055C>T						HK1_uc001jpg.3_Silent_p.G206G|HK1_uc001jph.3_Silent_p.G222G|HK1_uc001jpi.3_Silent_p.G222G|HK1_uc001jpj.3_Silent_p.G253G|HK1_uc001jpk.3_Silent_p.G217G|HK1_uc009xqd.2_Silent_p.G96G	p.G218G	NM_000188	NP_000179	P19367	HXK1_HUMAN			6	755	+			218			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	37	c.654C>T	CCDS7292.1																																																																																				0.537	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2		NM_000188		18	58	0	0	0	0.002299	0	18	58		
CAMK2G	818	broad.mit.edu	37	10	75609037	75609037	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:75609037G>A	ENST00000351293.3	-	6	453	c.396C>T	c.(394-396)atC>atT	p.I132I	CAMK2G_ENST00000394762.2_Silent_p.I132I|CAMK2G_ENST00000322635.3_Silent_p.I132I|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000423381.1_Silent_p.I132I|CAMK2G_ENST00000305762.7_Silent_p.I132I|CAMK2G_ENST00000372765.1_Silent_p.I132I|RP11-574K11.8_ENST00000446730.2_RNA|CAMK2G_ENST00000444854.2_Intron|CAMK2G_ENST00000322680.3_Silent_p.I132I	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	132	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)	p.I132I(2)		kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	CCCTGTGGACGATGTCATGCT	0.522											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001jvv.1		NaN																	2	Substitution - coding silent(2)		urinary_tract(2)	lung(1)|stomach(1)	2						c.(370-372)ATC>ATT		calcium/calmodulin-dependent protein kinase II							124.0	99.0	108.0					10																	75609037		2203	4300	6503	SO:0001819	synonymous_variant	818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75609037G>A	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492	ENST00000351293.3:c.396C>T	10.37:g.75609037G>A			OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1161	CAMK2G_uc001jvm.1_Silent_p.I132I|CAMK2G_uc001jvo.1_Silent_p.I132I|CAMK2G_uc001jvq.1_Silent_p.I132I|CAMK2G_uc001jvr.1_Silent_p.I132I|CAMK2G_uc001jvp.1_Silent_p.I132I|CAMK2G_uc001jvs.1_Silent_p.I132I|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Silent_p.I110I|CAMK2G_uc010qkv.1_Intron	p.I124I	NM_172171	NP_751911	Q13555	KCC2G_HUMAN			6	496	-	Prostate(51;0.0112)		132			Protein kinase.		O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Silent	SNP	ENST00000351293.3	37	c.372C>T	CCDS7336.1																																																																																				0.522	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1		NM_172169		11	40	0	0	0	0.000978	0	11	40		
PIK3AP1	118788	broad.mit.edu	37	10	98380234	98380234	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:98380234G>A	ENST00000339364.5	-	12	1935	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R205W|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R428W|RNA5SP324_ENST00000365177.1_RNA	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	606					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		ATAAGCTGCCGCTGGCCTGGC	0.562																																						uc001kmq.2		NaN																	0				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(1816-1818)CGG>TGG		phosphoinositide-3-kinase adaptor protein 1							91.0	83.0	86.0					10																	98380234		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98380234G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1816C>T	10.37:g.98380234G>A	ENSP00000339826:p.Arg606Trp					PIK3AP1_uc001kmo.2_Missense_Mutation_p.R205W|PIK3AP1_uc001kmp.2_Missense_Mutation_p.R428W	p.R606W	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	12	1944	-		Colorectal(252;0.0442)	606					Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.1816C>T	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064363	0.76187	.	.	ENSG00000155629	ENST00000339364;ENST00000371110;ENST00000371109	T;T;T	0.52295	0.67;0.67;0.67	5.89	2.77	0.32553	.	0.104880	0.64402	D	0.000007	T	0.58652	0.2137	L	0.59436	1.845	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.70935	0.96;0.971	T	0.58808	-0.7571	10	0.87932	D	0	-21.3787	7.412	0.27023	0.0735:0.1064:0.6712:0.1489	.	606;205	Q6ZUJ8;Q6ZUJ8-3	BCAP_HUMAN;.	W	606;428;205	ENSP00000339826:R606W;ENSP00000360151:R428W;ENSP00000360150:R205W	ENSP00000339826:R606W	R	-	1	2	PIK3AP1	98370224	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.161000	0.42358	0.816000	0.34421	0.561000	0.74099	CGG		0.562	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2		NM_152309		54	77	0	0	0	0.00361	0	54	77		
CHUK	1147	broad.mit.edu	37	10	101953102	101953102	+	Silent	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:101953102T>G	ENST00000370397.7	-	19	2147	c.2061A>C	c.(2059-2061)tcA>tcC	p.S687S	CHUK_ENST00000590930.1_5'UTR|RP11-316M21.7_ENST00000443919.1_RNA	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	687				TS -> DL (in Ref. 7; AAC50713). {ECO:0000305}.	anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	CATGTTCTGCTGAAGTCGGGG	0.473																																					Ovarian(159;52 1904 10536 35305 37148)	uc001kqp.2		NaN																	0				ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1)	7						c.(2059-2061)TCA>TCC		conserved helix-loop-helix ubiquitous kinase							123.0	105.0	111.0					10																	101953102		2203	4300	6503	SO:0001819	synonymous_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101953102T>G	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.2061A>C	10.37:g.101953102T>G							p.S687S	NM_001278	NP_001269	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	19	2116	-		Colorectal(252;0.117)	687	TS -> DL (in Ref. 7; AAC50713).				O14666|Q13132|Q5W0I4|Q92467	Silent	SNP	ENST00000370397.7	37	c.2061A>C	CCDS7488.1																																																																																				0.473	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1		NM_001278		39	95	0	0	0	0.00623	0	39	95		
MGEA5	10724	broad.mit.edu	37	10	103558904	103558904	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:103558904C>T	ENST00000361464.3	-	9	1899	c.1504G>A	c.(1504-1506)Gat>Aat	p.D502N	MGEA5_ENST00000357797.5_Missense_Mutation_p.D449N|MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Missense_Mutation_p.D449N|MGEA5_ENST00000370094.3_Missense_Mutation_p.D502N	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	502					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		CTCTCTTTATCAGTGTCCATT	0.398																																						uc001ktv.2		NaN																	0				ovary(2)|skin(1)	3						c.(1504-1506)GAT>AAT		meningioma expressed antigen 5 (hyaluronidase)							382.0	360.0	367.0					10																	103558904		2203	4300	6503	SO:0001583	missense	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103558904C>T	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1504G>A	10.37:g.103558904C>T	ENSP00000354850:p.Asp502Asn					MGEA5_uc001ktu.2_RNA|MGEA5_uc010qqe.1_Missense_Mutation_p.D449N|MGEA5_uc009xws.2_Missense_Mutation_p.D449N|MGEA5_uc001ktw.2_Missense_Mutation_p.D502N|MGEA5_uc009xwt.2_Missense_Mutation_p.D265N	p.D502N	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	9	1947	-		Colorectal(252;0.207)	502					B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	c.1504G>A	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.583878	0.65992	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	T;T;T;T	0.33438	1.45;1.43;1.43;1.41	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	N	0.14661	0.345	0.80722	D	1	D;D;P;B;B	0.67145	0.993;0.996;0.802;0.274;0.055	D;D;B;B;B	0.79784	0.984;0.993;0.33;0.025;0.016	T	0.15292	-1.0442	10	0.16896	T	0.51	-21.5695	20.3697	0.98890	0.0:1.0:0.0:0.0	.	449;65;449;502;502	E9PGF9;B3KMK2;O60502-2;O60502-3;O60502	.;.;.;.;NCOAT_HUMAN	N	449;502;449;502	ENSP00000409973:D449N;ENSP00000354850:D502N;ENSP00000350445:D449N;ENSP00000359112:D502N	ENSP00000350445:D449N	D	-	1	0	MGEA5	103548894	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.423000	0.80229	2.811000	0.96726	0.655000	0.94253	GAT		0.398	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1		NM_012215		96	287	0	0	0	0.00361	0	96	287		
NT5C2	22978	broad.mit.edu	37	10	104858711	104858711	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:104858711G>T	ENST00000404739.3	-	8	687	c.664C>A	c.(664-666)Ctt>Att	p.L222I	NT5C2_ENST00000343289.5_Missense_Mutation_p.L222I|NT5C2_ENST00000369857.4_5'UTR|NT5C2_ENST00000423468.2_Missense_Mutation_p.L193I			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	222					cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TACTTCTCAAGATTTTCAACT	0.294																																						uc001kwo.2		NaN																	0					0						c.(664-666)CTT>ATT		5'-nucleotidase, cytosolic II	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)						83.0	80.0	81.0					10																	104858711		2202	4300	6502	SO:0001583	missense	22978				purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding	g.chr10:104858711G>T	D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.664C>A	10.37:g.104858711G>T	ENSP00000383960:p.Leu222Ile					NT5C2_uc010qqp.1_Missense_Mutation_p.L193I|NT5C2_uc001kwq.2_Missense_Mutation_p.L222I|NT5C2_uc001kwp.2_Missense_Mutation_p.L69I	p.L222I	NM_012229	NP_036361	P49902	5NTC_HUMAN		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	10	850	-		all_hematologic(284;0.176)|Colorectal(252;0.178)	222					B7Z382|D3DR91|Q5JUV5	Missense_Mutation	SNP	ENST00000404739.3	37	c.664C>A	CCDS7544.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.744318	0.49151	.	.	ENSG00000076685	ENST00000343289;ENST00000404739;ENST00000423468;ENST00000452156;ENST00000458345;ENST00000369853	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	5.69	5.69	0.88448	HAD-like domain (1);	0.064020	0.64402	D	0.000005	T	0.45836	0.1362	M	0.74389	2.26	0.46279	D	0.998965	P;P;P	0.47034	0.818;0.889;0.818	P;P;P	0.60949	0.818;0.881;0.818	T	0.23619	-1.0183	10	0.32370	T	0.25	-22.704	11.2344	0.48931	0.1413:0.0:0.8587:0.0	.	193;69;222	B7Z382;B3KXN5;P49902	.;.;5NTC_HUMAN	I	222;222;193;230;153;178	ENSP00000339479:L222I;ENSP00000383960:L222I;ENSP00000392236:L193I;ENSP00000396468:L230I;ENSP00000411330:L153I	ENSP00000339479:L222I	L	-	1	0	NT5C2	104848701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.040000	0.57333	2.685000	0.91497	0.655000	0.94253	CTT		0.294	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050121.1		NM_012229		9	27	1	0	9.70103e-10	0.008291	1.21889e-09	9	27		
PCGF6	84108	broad.mit.edu	37	10	105110683	105110683	+	Silent	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:105110683A>C	ENST00000369847.3	-	1	208	c.141T>G	c.(139-141)ccT>ccG	p.P47P	PCGF6_ENST00000337211.4_Silent_p.P47P|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	47	Pro-rich.				negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TCTCAGACAGAGGCGCCGGTC	0.746																																						uc001kwt.2		NaN																	0				kidney(1)	1						c.(139-141)CCT>CCG		polycomb group ring finger 6 isoform a							3.0	3.0	3.0					10																	105110683		1313	3027	4340	SO:0001819	synonymous_variant	84108				negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:105110683A>C	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.141T>G	10.37:g.105110683A>C						PCGF6_uc001kwu.2_Silent_p.P47P|PCGF6_uc009xxk.2_RNA|PCGF6_uc009xxl.2_RNA|PCGF6_uc009xxm.2_RNA	p.P47P	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)	1	209	-		Colorectal(252;0.0747)|Breast(234;0.128)	47			Pro-rich.		A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Silent	SNP	ENST00000369847.3	37	c.141T>G	CCDS31275.1																																																																																				0.746	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050132.1		NM_032154		5	9	0	0	0	0.000602	0	5	9		
PNLIPRP3	119548	broad.mit.edu	37	10	118187433	118187433	+	5'UTR	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:118187433G>A	ENST00000369230.3	+	0	55					NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3						lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TTGCATCATTGTGAGGAAAAC	0.323																																						uc001lcl.3		NaN																	0				ovary(1)	1						c.(-93--89)TTGTG>TTATG		pancreatic lipase-related protein 3 precursor																																				SO:0001623	5_prime_UTR_variant	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118187433G>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.-92G>A	10.37:g.118187433G>A								NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	1	10	+									Translation_Start_Site	SNP	ENST00000369230.3	37	c.-91G>A	CCDS31292.1																																																																																				0.323	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1		XM_058404		6	31	0	0	0	0.001984	0	6	31		
TACC2	10579	broad.mit.edu	37	10	123844863	123844863	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:123844863G>A	ENST00000369005.1	+	4	3188	c.2848G>A	c.(2848-2850)Gag>Aag	p.E950K	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.E950K|TACC2_ENST00000334433.3_Missense_Mutation_p.E950K|TACC2_ENST00000515603.1_Missense_Mutation_p.E950K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.E950K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	950					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAAGCGGCCAGAGGGAGCATG	0.522																																						uc001lfv.2		NaN																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(2848-2850)GAG>AAG		transforming, acidic coiled-coil containing							97.0	100.0	99.0					10																	123844863		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844863G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2848G>A	10.37:g.123844863G>A	ENSP00000358001:p.Glu950Lys					TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.E950K|TACC2_uc010qtv.1_Missense_Mutation_p.E950K	p.E950K	NM_206862	NP_996744	O95359	TACC2_HUMAN			4	3208	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	950					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2848G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056059	0.36277	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03358	3.98;3.96;3.98;3.98;3.96	5.65	2.75	0.32379	.	0.000000	0.35739	N	0.003020	T	0.02533	0.0077	L	0.32530	0.975	0.09310	N	1	P;P;B	0.37330	0.59;0.59;0.335	B;B;B	0.26969	0.075;0.044;0.044	T	0.46162	-0.9211	10	0.87932	D	0	-8.0696	5.239	0.15462	0.2435:0.1491:0.6074:0.0	.	950;950;950	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	K	950;950;950;950;950;940	ENSP00000358001:E950K;ENSP00000424467:E950K;ENSP00000427618:E950K;ENSP00000334280:E950K;ENSP00000395048:E950K	ENSP00000334280:E950K	E	+	1	0	TACC2	123834853	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	0.032000	0.13732	0.316000	0.23135	0.498000	0.49722	GAG		0.522	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1				39	109	0	0	0	0.007835	0	39	109		
LMNTD2	256329	broad.mit.edu	37	11	556086	556086	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:556086C>T	ENST00000329451.3	-	11	1349	c.1287G>A	c.(1285-1287)aaG>aaA	p.K429K	RP11-496I9.1_ENST00000527113.1_RNA|RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		429	LTD.									NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGCGGCTTCTTGGCGCTGC	0.801																																						uc001lpx.2		NaN																	0				pancreas(1)	1						c.(1285-1287)AAG>AAA		hypothetical protein LOC256329							6.0	8.0	8.0					11																	556086		1660	3505	5165	SO:0001819	synonymous_variant	256329							g.chr11:556086C>T																												ENST00000329451.3:c.1287G>A	11.37:g.556086C>T						uc001lpy.2_5'Flank	p.K429K	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	11	1350	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	429						Silent	SNP	ENST00000329451.3	37	c.1287G>A	CCDS7701.1																																																																																				0.801	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2				10	10	0	0	0	0.006214	0	10	10		
MUC15	143662	broad.mit.edu	37	11	26586972	26586972	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:26586972G>A	ENST00000455601.2	-	2	552	c.434C>T	c.(433-435)tCt>tTt	p.S145F	MUC15_ENST00000529533.1_Missense_Mutation_p.S172F|MUC15_ENST00000527569.1_Missense_Mutation_p.S172F|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000436318.2_Missense_Mutation_p.S172F|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Missense_Mutation_p.S172F	NM_145650.3	NP_663625.2	Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	145					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						GTTTTCTGAAGACAGAGCAGG	0.428																																						uc001mqx.2		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(433-435)TCT>TTT		mucin 15 isoform b							166.0	155.0	159.0					11																	26586972		2203	4300	6503	SO:0001583	missense	143662					extracellular region|integral to membrane|plasma membrane		g.chr11:26586972G>A	AJ417818	CCDS7859.1, CCDS44556.1, CCDS44557.1	11p14.3	2007-01-17	2006-03-14					"""Mucins"""	14956	protein-coding gene	gene with protein product		608566				12047385	Standard	NM_145650		Approved		uc001mqw.3	Q8N387		ENST00000455601.2:c.434C>T	11.37:g.26586972G>A	ENSP00000397339:p.Ser145Phe					ANO3_uc010rdr.1_Intron|ANO3_uc001mqt.3_Intron|ANO3_uc010rds.1_Intron|ANO3_uc010rdt.1_Intron|MUC15_uc001mqw.2_Missense_Mutation_p.S172F|MUC15_uc001mqy.2_Missense_Mutation_p.S172F	p.S145F	NM_145650	NP_663625	Q8N387	MUC15_HUMAN			2	700	-			145			Extracellular (Potential).		B3KY00|E9PII6|F8W945|Q6UWS3|Q8IXI8|Q8WW41	Missense_Mutation	SNP	ENST00000455601.2	37	c.434C>T	CCDS7859.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.478701	0.44044	.	.	ENSG00000169550	ENST00000455601;ENST00000436318;ENST00000281268;ENST00000529533;ENST00000527569	T;T;T;T;T	0.27720	1.71;1.69;1.65;1.69;1.65	4.66	3.73	0.42828	.	0.813314	0.10859	N	0.626377	T	0.43590	0.1254	L	0.43923	1.385	0.09310	N	1	D;P;P	0.57571	0.98;0.904;0.904	P;P;P	0.62184	0.899;0.595;0.595	T	0.18871	-1.0323	10	0.59425	D	0.04	-4.5745	9.7788	0.40637	0.1:0.0:0.9:0.0	.	172;145;172	F8W945;Q8N387;E9PII6	.;MUC15_HUMAN;.	F	145;172;172;172;172	ENSP00000397339:S145F;ENSP00000416753:S172F;ENSP00000281268:S172F;ENSP00000431983:S172F;ENSP00000431945:S172F	ENSP00000281268:S172F	S	-	2	0	MUC15	26543548	0.193000	0.23313	0.002000	0.10522	0.002000	0.02628	2.856000	0.48341	1.239000	0.43787	0.650000	0.86243	TCT		0.428	MUC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387866.1		NM_145650		35	92	0	0	0	0.004289	0	35	92		
LIN7C	55327	broad.mit.edu	37	11	27523109	27523109	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:27523109T>C	ENST00000278193.2	-	3	181	c.161A>G	c.(160-162)tAt>tGt	p.Y54C	LIN7C_ENST00000524596.1_Intron	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	54	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				exocytosis (GO:0006887)|morphogenesis of an epithelial sheet (GO:0002011)|neurotransmitter secretion (GO:0007269)|protein transport (GO:0015031)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|MPP7-DLG1-LIN7 complex (GO:0097025)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|L27 domain binding (GO:0097016)|protein domain specific binding (GO:0019904)			endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						GACATGTTCATATACCTGTAA	0.348																																						uc001mrl.2		NaN																	0					0						c.(160-162)TAT>TGT		lin-7 homolog C							83.0	81.0	82.0					11																	27523109		2202	4299	6501	SO:0001583	missense	55327				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction		g.chr11:27523109T>C	AK002077	CCDS7864.1	11p14	2008-07-18				ENSG00000148943			17789	protein-coding gene	gene with protein product	"""LIN-7 protein 3"""	612332				10341223	Standard	NM_018362		Approved	MALS-3, Lin7c, LIN-7C, LIN-7-C, VELI3, FLJ11215	uc001mrl.3	Q9NUP9		ENST00000278193.2:c.161A>G	11.37:g.27523109T>C	ENSP00000278193:p.Tyr54Cys					LIN7C_uc009yii.2_Intron	p.Y54C	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN			3	188	-			54			L27.			Missense_Mutation	SNP	ENST00000278193.2	37	c.161A>G	CCDS7864.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.341474	0.81911	.	.	ENSG00000148943	ENST00000278193	T	0.19394	2.15	5.59	5.59	0.84812	L27, C-terminal (1);L27 (2);	0.108916	0.64402	D	0.000003	T	0.49287	0.1548	M	0.80746	2.51	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.54159	-0.8335	10	0.72032	D	0.01	.	16.0668	0.80887	0.0:0.0:0.0:1.0	.	54	Q9NUP9	LIN7C_HUMAN	C	54	ENSP00000278193:Y54C	ENSP00000278193:Y54C	Y	-	2	0	LIN7C	27479685	1.000000	0.71417	0.986000	0.45419	0.880000	0.50808	7.798000	0.85924	2.246000	0.74042	0.533000	0.62120	TAT		0.348	LIN7C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388311.2		NM_018362		33	56	0	0	0	0.003271	0	33	56		
TCP11L1	55346	broad.mit.edu	37	11	33083105	33083105	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:33083105G>C	ENST00000334274.4	+	7	1205	c.805G>C	c.(805-807)Gaa>Caa	p.E269Q	TCP11L1_ENST00000432887.1_Missense_Mutation_p.E269Q|TCP11L1_ENST00000324357.9_Missense_Mutation_p.E48Q|TCP11L1_ENST00000531632.2_Missense_Mutation_p.E269Q	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	269						microtubule (GO:0005874)				kidney(1)|liver(2)|lung(2)|skin(1)	6						CCAGTGGCTGGAAGAAGCCTC	0.527																																						uc001mud.2		NaN																	0					0						c.(805-807)GAA>CAA		t-complex 11 (mouse) like 1							62.0	62.0	62.0					11																	33083105		2202	4298	6500	SO:0001583	missense	55346							g.chr11:33083105G>C	BC041696	CCDS7882.1	11p13	2014-08-12	2012-09-20		ENSG00000176148	ENSG00000176148			25655	protein-coding gene	gene with protein product			"""t-complex 11 (mouse) like 1"""				Standard	NM_001145541		Approved	FLJ11336	uc010rei.2	Q9NUJ3	OTTHUMG00000165303	ENST00000334274.4:c.805G>C	11.37:g.33083105G>C	ENSP00000335595:p.Glu269Gln					TCP11L1_uc009yju.2_Missense_Mutation_p.E84Q|TCP11L1_uc010rei.1_Missense_Mutation_p.E269Q|TCP11L1_uc001mue.2_Missense_Mutation_p.E269Q|TCP11L1_uc001muf.1_RNA	p.E269Q	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN			7	1205	+			269					D3DR01|Q8IVX4	Missense_Mutation	SNP	ENST00000334274.4	37	c.805G>C	CCDS7882.1	.	.	.	.	.	.	.	.	.	.	G	6.416	0.444867	0.12164	.	.	ENSG00000176148	ENST00000334274;ENST00000531632;ENST00000432887;ENST00000324357	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	5.01	0.394	0.16299	.	0.389852	0.31461	N	0.007608	T	0.03220	0.0094	N	0.00648	-1.295	0.23198	N	0.998136	B	0.06786	0.001	B	0.08055	0.003	T	0.39375	-0.9617	10	0.15499	T	0.54	-6.5599	17.3316	0.87265	0.0:0.67:0.33:0.0	.	269	Q9NUJ3	T11L1_HUMAN	Q	269;269;269;48	ENSP00000335595:E269Q;ENSP00000433067:E269Q;ENSP00000395070:E269Q;ENSP00000316279:E48Q	ENSP00000316279:E48Q	E	+	1	0	TCP11L1	33039681	0.861000	0.29849	0.855000	0.33649	0.868000	0.49771	1.214000	0.32419	0.481000	0.27557	0.555000	0.69702	GAA		0.527	TCP11L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383377.4		NM_018393		21	38	0	0	0	0.001523	0	21	38		
CAPRIN1	4076	broad.mit.edu	37	11	34110948	34110948	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:34110948C>G	ENST00000341394.4	+	12	1427	c.1238C>G	c.(1237-1239)tCt>tGt	p.S413C	CAPRIN1_ENST00000530820.1_Missense_Mutation_p.S413C|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.S332C|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.S413C|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.S413C	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	413					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GCAGTTCATTCTGAATCTAGA	0.368																																						uc001mvh.1		NaN																	0				ovary(1)	1						c.(1237-1239)TCT>TGT		membrane component chromosome 11 surface marker							89.0	84.0	86.0					11																	34110948		2202	4298	6500	SO:0001583	missense	4076				negative regulation of translation|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis	cytoplasmic mRNA processing body|cytosol|dendrite|integral to plasma membrane|stress granule	protein binding|RNA binding	g.chr11:34110948C>G	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1238C>G	11.37:g.34110948C>G	ENSP00000340329:p.Ser413Cys					CAPRIN1_uc001mvg.2_Missense_Mutation_p.S413C|CAPRIN1_uc001mvi.2_Missense_Mutation_p.S413C|CAPRIN1_uc001mvj.1_Missense_Mutation_p.S332C	p.S413C	NM_005898	NP_005889	Q14444	CAPR1_HUMAN			12	1427	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	413					A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	37	c.1238C>G	CCDS31453.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677420	0.88445	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68	5.33	5.33	0.75918	.	0.215984	0.48767	D	0.000172	T	0.41994	0.1183	L	0.54323	1.7	0.46317	D	0.998986	D;D	0.53885	0.963;0.963	P;P	0.54499	0.754;0.639	T	0.23762	-1.0179	10	0.59425	D	0.04	.	19.0231	0.92922	0.0:1.0:0.0:0.0	.	413;413	Q14444;Q14444-2	CAPR1_HUMAN;.	C	413;413;413;413;332	ENSP00000340329:S413C;ENSP00000374296:S413C;ENSP00000434150:S413C;ENSP00000434204:S413C;ENSP00000431581:S332C	ENSP00000340329:S413C	S	+	2	0	CAPRIN1	34067524	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.793000	0.75130	2.479000	0.83701	0.563000	0.77884	TCT		0.368	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2		NM_005898		26	49	0	0	0	0.007291	0	26	49		
ALX4	60529	broad.mit.edu	37	11	44331236	44331236	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:44331236C>T	ENST00000329255.3	-	1	480	c.377G>A	c.(376-378)cGa>cAa	p.R126Q		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	126					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GCAGGCGCCTCGCTGCAAGTA	0.726																																						uc001myb.2		NaN																	0					0						c.(376-378)CGA>CAA		aristaless-like homeobox 4							5.0	5.0	5.0					11																	44331236		1899	3927	5826	SO:0001583	missense	60529				hair follicle development			g.chr11:44331236C>T	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.377G>A	11.37:g.44331236C>T	ENSP00000332744:p.Arg126Gln						p.R126Q	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			1	481	-			126					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.377G>A	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	c	15.99	2.994746	0.54041	.	.	ENSG00000052850	ENST00000329255	D	0.90676	-2.71	4.69	4.69	0.59074	.	0.059773	0.64402	D	0.000010	D	0.93900	0.8048	M	0.71581	2.175	0.58432	D	0.999998	D	0.76494	0.999	P	0.61275	0.886	D	0.93055	0.6469	10	0.33141	T	0.24	.	17.6276	0.88097	0.0:1.0:0.0:0.0	.	126	Q9H161	ALX4_HUMAN	Q	126	ENSP00000332744:R126Q	ENSP00000332744:R126Q	R	-	2	0	ALX4	44287812	1.000000	0.71417	0.950000	0.38849	0.022000	0.10575	3.608000	0.54109	2.142000	0.66516	0.558000	0.71614	CGA		0.726	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1				5	15	0	0	0	0.000602	0	5	15		
LRP4	4038	broad.mit.edu	37	11	46895138	46895138	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:46895138T>C	ENST00000378623.1	-	29	4478	c.4236A>G	c.(4234-4236)gcA>gcG	p.A1412A	LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1412					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGTTCAGGTCTGCTCGCCTTG	0.567																																						uc001ndn.3		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(4234-4236)GCA>GCG		low density lipoprotein receptor-related protein							64.0	59.0	61.0					11																	46895138		2201	4299	6500	SO:0001819	synonymous_variant	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46895138T>C	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4236A>G	11.37:g.46895138T>C						uc001ndl.2_RNA	p.A1412A	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	29	4382	-			1412			Extracellular (Potential).|LDL-receptor class B 16.		B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	c.4236A>G	CCDS31478.1																																																																																				0.567	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1		NM_002334		42	94	0	0	0	0.002522	0	42	94		
DDB2	1643	broad.mit.edu	37	11	47237917	47237917	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:47237917T>C	ENST00000256996.4	+	2	353	c.158T>C	c.(157-159)cTc>cCc	p.L53P	DDB2_ENST00000378601.3_Missense_Mutation_p.L53P|DDB2_ENST00000378603.3_Missense_Mutation_p.L53P|DDB2_ENST00000378600.3_Missense_Mutation_p.L53P	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	53					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TCAGACTGCCTCTGGGTGGGG	0.557			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001neb.2		NaN	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	Mis|N	damage-specific DNA binding protein 2			E		skin basal cell|skin squamous cell|melanoma			0				kidney(2)|ovary(1)	3						c.(157-159)CTC>CCC	Direct_reversal_of_damage|NER	damage-specific DNA binding protein 2							86.0	89.0	88.0					11																	47237917		2201	4298	6499	SO:0001583	missense	1643	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47237917T>C		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.158T>C	11.37:g.47237917T>C	ENSP00000256996:p.Leu53Pro					DDB2_uc001nec.2_RNA|DDB2_uc009yli.1_Missense_Mutation_p.L53P|DDB2_uc001ned.2_RNA|DDB2_uc001nee.2_Missense_Mutation_p.L53P|DDB2_uc001nef.2_Missense_Mutation_p.L39P|DDB2_uc001neg.2_5'UTR|DDB2_uc001neh.2_5'Flank	p.L53P	NM_000107	NP_000098	Q92466	DDB2_HUMAN			2	353	+			53					B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Missense_Mutation	SNP	ENST00000256996.4	37	c.158T>C	CCDS7927.1	.	.	.	.	.	.	.	.	.	.	T	15.49	2.849260	0.51270	.	.	ENSG00000134574	ENST00000256996;ENST00000378603;ENST00000378600;ENST00000378601	T;T;T;T	0.78707	-0.66;-1.09;-1.2;0.76	5.1	1.21	0.21127	.	0.824756	0.10755	N	0.637907	T	0.65678	0.2714	L	0.44542	1.39	0.24795	N	0.992739	B;B;B;B	0.14012	0.003;0.009;0.009;0.002	B;B;B;B	0.14578	0.007;0.011;0.007;0.003	T	0.53542	-0.8424	10	0.39692	T	0.17	-29.0851	3.5705	0.07916	0.3726:0.097:0.0:0.5304	.	53;53;53;53	Q92466-4;Q92466-3;Q92466-2;Q92466	.;.;.;DDB2_HUMAN	P	53	ENSP00000256996:L53P;ENSP00000367866:L53P;ENSP00000367863:L53P;ENSP00000367864:L53P	ENSP00000256996:L53P	L	+	2	0	DDB2	47194493	0.011000	0.17503	0.237000	0.24090	0.690000	0.40134	0.164000	0.16542	0.401000	0.25424	0.533000	0.62120	CTC		0.557	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000107		50	148	0	0	0	0.00361	0	50	148		
OR5AS1	219447	broad.mit.edu	37	11	55798060	55798060	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:55798060C>T	ENST00000313555.1	+	1	166	c.166C>T	c.(166-168)Caa>Taa	p.Q56*		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTCAAGCCTTCAAATTCCCAT	0.343																																						uc010riw.1		NaN																	0				ovary(3)|liver(1)|skin(1)	5						c.(166-168)CAA>TAA		olfactory receptor, family 5, subfamily AS,							52.0	56.0	55.0					11																	55798060		2200	4296	6496	SO:0001587	stop_gained	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798060C>T	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.166C>T	11.37:g.55798060C>T	ENSP00000324111:p.Gln56*						p.Q56*	NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN			1	166	+	Esophageal squamous(21;0.00693)		56			Helical; Name=2; (Potential).		Q6IFB8	Nonsense_Mutation	SNP	ENST00000313555.1	37	c.166C>T	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975313	0.34848	.	.	ENSG00000181785	ENST00000313555	.	.	.	5.65	5.65	0.86999	.	0.000000	0.33834	U	0.004517	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.3253	0.32153	0.0:0.7596:0.1581:0.0823	.	.	.	.	X	56	.	ENSP00000324111:Q56X	Q	+	1	0	OR5AS1	55554636	0.989000	0.36119	0.298000	0.25002	0.183000	0.23260	3.518000	0.53451	2.663000	0.90544	0.643000	0.83706	CAA		0.343	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1		NM_001001921		15	55	0	0	0	0.004007	0	15	55		
MS4A2	2206	broad.mit.edu	37	11	59863129	59863129	+	Nonstop_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:59863129A>C	ENST00000278888.3	+	7	837	c.735A>C	c.(733-735)taA>taC	p.*245Y		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	0					activation of phospholipase C activity (GO:0007202)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of mast cell degranulation (GO:0043306)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	TTGATTTATAAGAATCACGTG	0.428																																						uc001nop.2		NaN																	0				ovary(1)	1						c.(733-735)TAA>TAC		membrane-spanning 4-domains, subfamily A, member	Omalizumab(DB00043)						89.0	87.0	87.0					11																	59863129		2201	4295	6496	SO:0001578	stop_lost	2206				cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity	g.chr11:59863129A>C	M89796	CCDS7980.1, CCDS73292.1	11q12-q13	2012-02-28	2012-02-28		ENSG00000149534	ENSG00000149534			7316	protein-coding gene	gene with protein product	"""Fc fragment of IgE, high affinity I, receptor for; beta polypeptide"""	147138	"""IgE responsiveness (atopic)"", ""membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide)"""	FCER1B, IGER, APY		1386024	Standard	NM_000139		Approved	MS4A1	uc001nop.3	Q01362	OTTHUMG00000167239	ENST00000278888.3:c.735A>C	11.37:g.59863129A>C	ENSP00000278888:p.*245Tyrext*21						p.*245Y	NM_000139	NP_000130	Q01362	FCERB_HUMAN			7	837	+		all_epithelial(135;0.245)	245					Q54A81	Nonstop_Mutation	SNP	ENST00000278888.3	37	c.735A>C	CCDS7980.1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.484812	0.26598	.	.	ENSG00000149534	ENST00000278888	.	.	.	4.79	4.79	0.61399	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0179	0.47701	1.0:0.0:0.0:0.0	.	.	.	.	Y	245	.	.	X	+	3	2	MS4A2	59619705	0.982000	0.34865	0.665000	0.29768	0.034000	0.12701	2.227000	0.42972	2.371000	0.80710	0.533000	0.62120	TAA		0.428	MS4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393844.1				10	30	0	0	0	0.008291	0	10	30		
ZP1	22917	broad.mit.edu	37	11	60636673	60636673	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:60636673C>T	ENST00000278853.5	+	2	252	c.252C>T	c.(250-252)gtC>gtT	p.V84V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	84					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCACTGGGTCACCTCCAGGC	0.587																																						uc001nqd.2		NaN																	0					0						c.(250-252)GTC>GTT		zona pellucida glycoprotein 1 precursor							66.0	60.0	62.0					11																	60636673		2203	4299	6502	SO:0001819	synonymous_variant	22917				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr11:60636673C>T	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.252C>T	11.37:g.60636673C>T						ZP1_uc001nqe.2_5'Flank	p.V84V	NM_207341	NP_997224	P60852	ZP1_HUMAN			2	272	+			84			Extracellular (Potential).			Silent	SNP	ENST00000278853.5	37	c.252C>T	CCDS31572.1																																																																																				0.587	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396329.1		NM_207341		20	41	0	0	0	0.002299	0	20	41		
CD5	921	broad.mit.edu	37	11	60889102	60889102	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:60889102G>A	ENST00000347785.3	+	6	991	c.825G>A	c.(823-825)caG>caA	p.Q275Q		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	275					apoptotic signaling pathway (GO:0097190)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CCAAGGTGCAGAGCCGTCTGG	0.637																																						uc009ynk.2		NaN																	0				ovary(1)	1						c.(823-825)CAG>CAA		CD5 molecule precursor							39.0	36.0	37.0					11																	60889102		2201	4297	6498	SO:0001819	synonymous_variant	921				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity	g.chr11:60889102G>A	X04391	CCDS8000.1	11q13	2008-07-18	2006-03-28		ENSG00000110448	ENSG00000110448		"""CD molecules"""	1685	protein-coding gene	gene with protein product		153340	"""CD5 antigen (p56-62)"""	LEU1		1711157	Standard	NM_014207		Approved	T1	uc009ynk.3	P06127	OTTHUMG00000167825	ENST00000347785.3:c.825G>A	11.37:g.60889102G>A							p.Q275Q	NM_014207	NP_055022	P06127	CD5_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)	6	928	+		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)	275			Extracellular (Potential).		A0N0P4|A8K9I3	Silent	SNP	ENST00000347785.3	37	c.825G>A	CCDS8000.1																																																																																				0.637	CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396465.2		NM_014207		17	73	0	0	0	0.00499	0	17	73		
CAPN1	823	broad.mit.edu	37	11	64977856	64977856	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:64977856G>A	ENST00000527323.1	+	19	2232	c.1992G>A	c.(1990-1992)tcG>tcA	p.S664S	CAPN1_ENST00000279247.6_Silent_p.S664S|CAPN1_ENST00000533129.1_Silent_p.S664S|CAPN1_ENST00000533820.1_Silent_p.S664S|CAPN1_ENST00000524773.1_Silent_p.S664S			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	664	Domain IV.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCCGCTACTCGGAGCCCGACC	0.592																																						uc009yqd.1		NaN																	0				ovary(1)	1						c.(1990-1992)TCG>TCA		calpain 1, large subunit							55.0	57.0	56.0					11																	64977856		2009	4184	6193	SO:0001819	synonymous_variant	823				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	g.chr11:64977856G>A	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1992G>A	11.37:g.64977856G>A						CAPN1_uc001odf.1_Silent_p.S664S|CAPN1_uc001odg.1_Silent_p.S664S|CAPN1_uc010roa.1_Silent_p.S405S	p.S664S	NM_005186	NP_005177	P07384	CAN1_HUMAN		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)	20	2103	+		Lung NSC(402;0.094)|Melanoma(852;0.16)	664			Domain IV.		Q2TTR0|Q6DHV4	Silent	SNP	ENST00000527323.1	37	c.1992G>A	CCDS44644.1																																																																																				0.592	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1				12	21	0	0	0	0.001855	0	12	21		
LRP5	4041	broad.mit.edu	37	11	68115341	68115341	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:68115341C>T	ENST00000294304.7	+	2	224	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	40	Beta-propeller 1.				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						ATTTGCCAACCGCCGGGACGT	0.632																																						uc001ont.2		NaN																	0				lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(118-120)CGC>TGC		low density lipoprotein receptor-related protein																																				SO:0001583	missense	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.chr11:68115341C>T	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.118C>T	11.37:g.68115341C>T	ENSP00000294304:p.Arg40Cys					LRP5_uc009ysg.2_5'UTR	p.R40C	NM_002335	NP_002326	O75197	LRP5_HUMAN			2	193	+			40			Beta-propeller 1.|Extracellular (Potential).		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.118C>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.353799	0.61293	.	.	ENSG00000162337	ENST00000294304	D	0.91740	-2.9	4.23	4.23	0.50019	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.42420	U	0.000702	D	0.96793	0.8953	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97801	1.0244	10	0.87932	D	0	.	16.8037	0.85620	0.0:1.0:0.0:0.0	.	40	O75197	LRP5_HUMAN	C	40	ENSP00000294304:R40C	ENSP00000294304:R40C	R	+	1	0	LRP5	67871917	1.000000	0.71417	1.000000	0.80357	0.009000	0.06853	4.695000	0.61767	2.354000	0.79902	0.561000	0.74099	CGC		0.632	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1		NM_002335		23	190	0	0	0	0.003954	0	23	190		
NUMA1	4926	broad.mit.edu	37	11	71724518	71724518	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:71724518G>A	ENST00000393695.3	-	15	4362	c.4031C>T	c.(4030-4032)tCc>tTc	p.S1344F	NUMA1_ENST00000358965.6_Missense_Mutation_p.S1344F|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2			nuclear mitotic apparatus protein 1											central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGCAGGGTGGAGAGGGCCTG	0.647			T	RARA	APL																																	uc001orl.1		NaN		Dom	yes		11	11q13	4926	T	nuclear mitotic apparatus protein 1			L	RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(4030-4032)TCC>TTC		nuclear mitotic apparatus protein 1							31.0	34.0	33.0					11																	71724518		2198	4290	6488	SO:0001583	missense	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71724518G>A	Z11584	CCDS31633.1, CCDS66156.1	11q13	2008-02-05				ENSG00000137497			8059	protein-coding gene	gene with protein product		164009				8406455	Standard	NM_006185		Approved		uc001orl.1	Q14980		ENST00000393695.3:c.4031C>T	11.37:g.71724518G>A	ENSP00000377298:p.Ser1344Phe					NUMA1_uc009ysw.1_Missense_Mutation_p.S907F|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Missense_Mutation_p.S1344F|NUMA1_uc001orn.2_Missense_Mutation_p.S907F|NUMA1_uc009ysx.1_Missense_Mutation_p.S1344F|NUMA1_uc001oro.1_Missense_Mutation_p.S1344F	p.S1344F	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			15	4203	-			1344			Potential.			Missense_Mutation	SNP	ENST00000393695.3	37	c.4031C>T	CCDS31633.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.88|18.88	3.717154|3.717154	0.68844|0.68844	.|.	.|.	ENSG00000137497|ENSG00000137497	ENST00000541584|ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	.|T;T	.|0.19250	.|2.16;2.16	5.14|5.14	5.14|5.14	0.70334|0.70334	.|.	.|0.000000	.|0.53938	.|D	.|0.000044	T|T	0.34745|0.34745	0.0908|0.0908	N|N	0.24115|0.24115	0.695|0.695	0.42068|0.42068	D|D	0.991198|0.991198	.|D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.999	.|D;D;D;D	.|0.79108	.|0.992;0.982;0.982;0.992	T|T	0.20605|0.20605	-1.0270|-1.0270	5|10	.|0.87932	.|D	.|0	.|.	18.3987|18.3987	0.90509|0.90509	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1350;828;1344;1344	.|Q4LE64;Q59HB8;Q14980-2;Q14980	.|.;.;.;NUMA1_HUMAN	S|F	189|1344;1344;907;313	.|ENSP00000351851:S1344F;ENSP00000377298:S1344F	.|ENSP00000351851:S1344F	P|S	-|-	1|2	0|0	NUMA1|NUMA1	71402166|71402166	0.952000|0.952000	0.32445|0.32445	0.998000|0.998000	0.56505|0.56505	0.992000|0.992000	0.81027|0.81027	3.190000|3.190000	0.50973|0.50973	2.665000|2.665000	0.90641|0.90641	0.655000|0.655000	0.94253|0.94253	CCA|TCC		0.647	NUMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395769.1				12	125	0	0	0	0.001368	0	12	125		
INPPL1	3636	broad.mit.edu	37	11	71943351	71943351	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:71943351C>T	ENST00000298229.2	+	14	1887	c.1683C>T	c.(1681-1683)caC>caT	p.H561H	INPPL1_ENST00000541756.1_Silent_p.H319H|INPPL1_ENST00000538751.1_Silent_p.H319H	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	561					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|endochondral ossification (GO:0001958)|endocytosis (GO:0006897)|glucose metabolic process (GO:0006006)|immune system process (GO:0002376)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|post-embryonic development (GO:0009791)|response to insulin (GO:0032868)|ruffle assembly (GO:0097178)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|SH2 domain binding (GO:0042169)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGAATTGTCACCTCACCTCGG	0.552																																						uc001osf.2		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(1681-1683)CAC>CAT		inositol polyphosphate phosphatase-like 1							87.0	74.0	78.0					11																	71943351		2175	4255	6430	SO:0001819	synonymous_variant	3636				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding	g.chr11:71943351C>T	Y14385	CCDS8213.1	11q23	2013-02-14			ENSG00000165458	ENSG00000165458		"""Sterile alpha motif (SAM) domain containing"", ""SH2 domain containing"""	6080	protein-coding gene	gene with protein product	"""51C protein"""	600829				8530088	Standard	NM_001567		Approved	SHIP2	uc001osf.3	O15357	OTTHUMG00000167879	ENST00000298229.2:c.1683C>T	11.37:g.71943351C>T						INPPL1_uc001osg.2_Silent_p.H319H	p.H561H	NM_001567	NP_001558	O15357	SHIP2_HUMAN			14	1830	+			561					B2RTX5|Q13577|Q13578	Silent	SNP	ENST00000298229.2	37	c.1683C>T	CCDS8213.1																																																																																				0.552	INPPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396789.1		NM_001567		5	9	0	0	0	0.000602	0	5	9		
RSF1	51773	broad.mit.edu	37	11	77378038	77378038	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:77378038G>C	ENST00000308488.6	-	16	4552	c.4250C>G	c.(4249-4251)gCa>gGa	p.A1417G	RSF1_ENST00000480887.1_Missense_Mutation_p.A1165G|RSF1_ENST00000360355.2_Missense_Mutation_p.A1386G			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1417					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CTCTTCTGGTGCTCCTGCCTC	0.478																																						uc001oyn.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(4249-4251)GCA>GGA		remodeling and spacing factor 1							153.0	127.0	136.0					11																	77378038		2200	4292	6492	SO:0001583	missense	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77378038G>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.4250C>G	11.37:g.77378038G>C	ENSP00000311513:p.Ala1417Gly					RSF1_uc001oym.2_Missense_Mutation_p.A1165G	p.A1417G	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		16	4370	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1417					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	37	c.4250C>G	CCDS8253.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.326504	0.41197	.	.	ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355	D;D;D	0.85411	-1.94;-1.98;-1.95	5.29	5.29	0.74685	.	0.000000	0.49305	D	0.000154	T	0.74839	0.3769	L	0.29908	0.895	0.41441	D	0.987925	B	0.21753	0.06	B	0.17433	0.018	T	0.69198	-0.5208	10	0.34782	T	0.22	-13.8027	8.102	0.30863	0.0852:0.2099:0.7049:0.0	.	1417	Q96T23	RSF1_HUMAN	G	1417;1165;1386	ENSP00000311513:A1417G;ENSP00000434509:A1165G;ENSP00000353511:A1386G	ENSP00000311513:A1417G	A	-	2	0	RSF1	77055686	0.998000	0.40836	1.000000	0.80357	0.982000	0.71751	2.575000	0.46025	2.757000	0.94681	0.462000	0.41574	GCA		0.478	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2		NM_016578		44	282	0	0	0	0.00361	0	44	282		
TENM4	26011	broad.mit.edu	37	11	78369287	78369287	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:78369287C>G	ENST00000278550.7	-	34	8588	c.8126G>C	c.(8125-8127)aGa>aCa	p.R2709T		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2709					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TTCCCGCAGTCTCTGCTGCTC	0.667																																						uc001ozl.3		NaN																	0				ovary(2)|pancreas(2)	4						c.(8125-8127)AGA>ACA		odz, odd Oz/ten-m homolog 4							47.0	54.0	51.0					11																	78369287		2039	4180	6219	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78369287C>G	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.8126G>C	11.37:g.78369287C>G	ENSP00000278550:p.Arg2709Thr					ODZ4_uc001ozk.3_Missense_Mutation_p.R934T|ODZ4_uc009yvb.1_Intron	p.R2709T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			34	8589	-			2709			Extracellular (Potential).		A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.8126G>C	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620094	0.87460	.	.	ENSG00000149256	ENST00000278550	D	0.89746	-2.56	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.93877	0.8041	M	0.69358	2.11	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	D	0.92532	0.6034	9	.	.	.	.	19.9142	0.97043	0.0:1.0:0.0:0.0	.	2709	Q6N022	TEN4_HUMAN	T	2709	ENSP00000278550:R2709T	.	R	-	2	0	ODZ4	78046935	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.890000	0.69774	2.941000	0.99782	0.655000	0.94253	AGA		0.667	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2				19	65	0	0	0	0.001523	0	19	65		
MRE11A	4361	broad.mit.edu	37	11	94201031	94201031	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:94201031C>A	ENST00000323929.3	-	10	1268	c.1046G>T	c.(1045-1047)cGg>cTg	p.R349L	MIR548L_ENST00000408303.1_RNA|MRE11A_ENST00000407439.3_Missense_Mutation_p.R352L|MRE11A_ENST00000323977.3_Missense_Mutation_p.R349L|MRE11A_ENST00000393241.4_Missense_Mutation_p.R349L	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	349					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CAGACGTTCCCGTTCAGCATT	0.333								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													uc001peu.2		NaN																	0				breast(4)|lung(1)	5						c.(1045-1047)CGG>CTG	Homologous_recombination	meiotic recombination 11 homolog A isoform 1							83.0	87.0	85.0					11																	94201031		2201	4298	6499	SO:0001583	missense	4361	Ataxia-Telangiectasia-Like_Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94201031C>A	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1046G>T	11.37:g.94201031C>A	ENSP00000325863:p.Arg349Leu					MRE11A_uc001pev.2_Missense_Mutation_p.R349L|MRE11A_uc009ywj.2_Missense_Mutation_p.R352L|MIR548L_hsa-mir-548l|MI0006361_5'Flank	p.R349L	NM_005591	NP_005582	P49959	MRE11_HUMAN			10	1235	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	349					O43475	Missense_Mutation	SNP	ENST00000323929.3	37	c.1046G>T	CCDS8299.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019172	0.75275	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	6.06	6.06	0.98353	Mre11, DNA-binding (1);	0.043260	0.85682	D	0.000000	D	0.83653	0.5301	L	0.57536	1.79	0.80722	D	1	B;B;D	0.56287	0.252;0.035;0.975	B;B;P	0.54924	0.113;0.012;0.764	T	0.80130	-0.1511	10	0.33141	T	0.24	-14.3248	20.6208	0.99490	0.0:1.0:0.0:0.0	.	352;349;349	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	L	349;352;349;349	ENSP00000325863:R349L;ENSP00000385614:R352L;ENSP00000326094:R349L;ENSP00000376933:R349L	ENSP00000325863:R349L	R	-	2	0	MRE11A	93840679	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.620000	0.61226	2.882000	0.98803	0.655000	0.94253	CGG		0.333	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3		NM_005591		27	26	1	0	1.32181e-22	0.007291	1.75715e-22	27	26		
EXPH5	23086	broad.mit.edu	37	11	108464258	108464258	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:108464258C>T	ENST00000265843.4	-	1	116	c.6G>A	c.(4-6)acG>acA	p.T2T	EXPH5_ENST00000525344.1_Intron	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	2					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAGGAACTTTCGTCATTTTCT	0.458																																						uc001pkk.2		NaN																	0				skin(3)|ovary(2)	5						c.(4-6)ACG>ACA		exophilin 5 isoform a							87.0	86.0	86.0					11																	108464258		2201	4298	6499	SO:0001819	synonymous_variant	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108464258C>T		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.6G>A	11.37:g.108464258C>T							p.T2T	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	1	117	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	2					Q2KHM1|Q9Y4D6	Silent	SNP	ENST00000265843.4	37	c.6G>A	CCDS8341.1																																																																																				0.458	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1		NM_015065		17	38	0	0	0	0.00499	0	17	38		
HTR3B	9177	broad.mit.edu	37	11	113775663	113775663	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:113775663C>G	ENST00000260191.2	+	1	265	c.8C>G	c.(7-9)tCa>tGa	p.S3*		NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	3					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GGAATGTTGTCAAGTGTAATG	0.458																																						uc001pok.2		NaN																	0					0						c.(7-9)TCA>TGA		5-hydroxytryptamine (serotonin) receptor 3B							133.0	119.0	123.0					11																	113775663		2201	4296	6497	SO:0001587	stop_gained	9177				synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113775663C>G	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.8C>G	11.37:g.113775663C>G	ENSP00000260191:p.Ser3*						p.S3*	NM_006028	NP_006019	O95264	5HT3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	1	75	+		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	3					B0YJ23|Q0VJC3	Nonsense_Mutation	SNP	ENST00000260191.2	37	c.8C>G	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	C	34	5.335245	0.95758	.	.	ENSG00000149305	ENST00000260191	.	.	.	6.06	2.0	0.26442	.	0.313142	0.23334	N	0.049312	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-0.7325	5.426	0.16425	0.0:0.6149:0.145:0.2402	.	.	.	.	X	3	.	ENSP00000260191:S3X	S	+	2	0	HTR3B	113280873	0.105000	0.21958	0.011000	0.14972	0.017000	0.09413	0.217000	0.17603	0.451000	0.26802	0.655000	0.94253	TCA		0.458	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1		NM_006028		14	32	0	0	0	0.00499	0	14	32		
GRIK4	2900	broad.mit.edu	37	11	120690613	120690613	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:120690613C>T	ENST00000527524.2	+	6	782	c.495C>T	c.(493-495)atC>atT	p.I165I	GRIK4_ENST00000438375.2_Silent_p.I165I	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	165					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CCTGCCTCATCTGTGCCAAAG	0.557																																						uc001pxn.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(493-495)ATC>ATT		glutamate receptor KA1 precursor	L-Glutamic Acid(DB00142)						157.0	149.0	152.0					11																	120690613		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120690613C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.495C>T	11.37:g.120690613C>T						GRIK4_uc009zav.1_Silent_p.I165I|GRIK4_uc009zaw.1_Silent_p.I165I|GRIK4_uc009zax.1_Silent_p.I165I	p.I165I	NM_014619	NP_055434	Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	6	782	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	165			Extracellular (Potential).		A8K9L1	Silent	SNP	ENST00000527524.2	37	c.495C>T	CCDS8433.1																																																																																				0.557	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4		NM_014619		88	150	0	0	0	0.00361	0	88	150		
HSPA8	3312	broad.mit.edu	37	11	122929535	122929535	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:122929535A>G	ENST00000532636.1	-	7	1446	c.1327T>C	c.(1327-1329)Tat>Cat	p.Y443H	HSPA8_ENST00000533540.1_Missense_Mutation_p.Y297H|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.Y207H|HSPA8_ENST00000453788.2_Missense_Mutation_p.Y443H|HSPA8_ENST00000227378.3_Missense_Mutation_p.Y443H|HSPA8_ENST00000534624.1_Missense_Mutation_p.Y443H|HSPA8_ENST00000526862.1_5'Flank|SNORD14C_ENST00000365382.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.Y424H			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	443					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TCGCCTTCATAAACCTTGGTA	0.473																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.2		NaN																	0				central_nervous_system(7)|lung(1)	8						c.(1327-1329)TAT>CAT		heat shock 70kDa protein 8 isoform 1							51.0	46.0	48.0					11																	122929535		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122929535A>G	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1327T>C	11.37:g.122929535A>G	ENSP00000437125:p.Tyr443His					HSPA8_uc009zbc.2_Missense_Mutation_p.Y207H|HSPA8_uc001pyp.2_Missense_Mutation_p.Y443H|HSPA8_uc010rzu.1_Missense_Mutation_p.Y366H	p.Y443H	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	7	1405	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	443					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1327T>C	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	16.82	3.227881	0.58777	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552	T;T;T;T;T;T;T;T	0.07216	3.21;3.21;3.21;3.21;3.21;3.21;3.21;3.21	4.62	4.62	0.57501	.	0.139798	0.48286	N	0.000182	T	0.38692	0.1050	M	0.94101	3.495	0.80722	D	1	D;D;D	0.71674	0.998;0.978;0.998	D;P;D	0.83275	0.996;0.836;0.996	T	0.54309	-0.8313	10	0.87932	D	0	-21.3389	14.3138	0.66434	1.0:0.0:0.0:0.0	.	443;443;443	Q53GZ6;P11142-2;P11142	.;.;HSP7C_HUMAN	H	443;297;443;443;443;207;424;34	ENSP00000437125:Y443H;ENSP00000437189:Y297H;ENSP00000432083:Y443H;ENSP00000404372:Y443H;ENSP00000227378:Y443H;ENSP00000433316:Y207H;ENSP00000433584:Y424H;ENSP00000435908:Y34H	ENSP00000227378:Y443H	Y	-	1	0	HSPA8	122434745	1.000000	0.71417	0.997000	0.53966	0.063000	0.16089	9.306000	0.96204	1.841000	0.53522	0.459000	0.35465	TAT		0.473	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1				18	34	0	0	0	0.006122	0	18	34		
OR6M1	390261	broad.mit.edu	37	11	123676311	123676311	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:123676311G>A	ENST00000309154.2	-	1	784	c.747C>T	c.(745-747)caC>caT	p.H249H		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TGTTGCTCCCGTGGGCAATGG	0.507																																						uc010rzz.1		NaN																	0				skin(2)	2						c.(745-747)CAC>CAT		olfactory receptor, family 6, subfamily M,							100.0	86.0	91.0					11																	123676311		2202	4299	6501	SO:0001819	synonymous_variant	390261				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123676311G>A	AB065762	CCDS31696.1	11q24.1	2012-08-09			ENSG00000196099	ENSG00000196099		"""GPCR / Class A : Olfactory receptors"""	14711	protein-coding gene	gene with protein product							Standard	NM_001005325		Approved		uc010rzz.2	Q8NGM8	OTTHUMG00000166012	ENST00000309154.2:c.747C>T	11.37:g.123676311G>A							p.H249H	NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)	1	747	-		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	249			Helical; Name=6; (Potential).		B2RNK0|Q6IEW9|Q96R37	Silent	SNP	ENST00000309154.2	37	c.747C>T	CCDS31696.1																																																																																				0.507	OR6M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387437.1		NM_001005325		13	28	0	0	0	0.001368	0	13	28		
IQSEC3	440073	broad.mit.edu	37	12	278230	278230	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:278230G>A	ENST00000538872.1	+	12	3141	c.3023G>A	c.(3022-3024)gGa>gAa	p.G1008E	IQSEC3_ENST00000537151.1_3'UTR|RP11-598F7.6_ENST00000537295.1_lincRNA|RP11-598F7.5_ENST00000540136.1_RNA|IQSEC3_ENST00000326261.4_Missense_Mutation_p.G1008E|IQSEC3_ENST00000382841.2_Missense_Mutation_p.G705E			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	1008					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGCCCTGCGGAGCCCAGGGG	0.622																																						uc001qhw.1		NaN																	0				central_nervous_system(2)|large_intestine(1)|skin(1)	4						c.(2113-2115)GGA>GAA		IQ motif and Sec7 domain 3							68.0	70.0	69.0					12																	278230		2203	4300	6503	SO:0001583	missense	440073				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chr12:278230G>A	AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.3023G>A	12.37:g.278230G>A	ENSP00000437554:p.Gly1008Glu					IQSEC3_uc001qhu.1_Missense_Mutation_p.G705E	p.G705E	NM_015232	NP_056047	Q9UPP2	IQEC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)	9	2120	+	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		1008					A6NIF2|A6NKV9|Q8TB43	Missense_Mutation	SNP	ENST00000538872.1	37	c.2114G>A	CCDS53728.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494960	0.64186	.	.	ENSG00000120645	ENST00000538872;ENST00000326261;ENST00000382841	T;T;T	0.38560	1.13;1.13;1.13	5.28	4.39	0.52855	.	0.286937	0.32287	N	0.006314	T	0.45256	0.1333	M	0.69823	2.125	0.80722	D	1	B;B	0.18461	0.028;0.011	B;B	0.23150	0.009;0.044	T	0.46527	-0.9185	10	0.59425	D	0.04	.	14.1215	0.65189	0.073:0.0:0.927:0.0	.	1008;705	Q9UPP2;Q9UPP2-2	IQEC3_HUMAN;.	E	1008;1008;705	ENSP00000437554:G1008E;ENSP00000315662:G1008E;ENSP00000372292:G705E	ENSP00000315662:G1008E	G	+	2	0	IQSEC3	148491	1.000000	0.71417	0.965000	0.40720	0.958000	0.62258	5.362000	0.66098	1.357000	0.45904	0.655000	0.94253	GGA		0.622	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397382.3		XM_495902		44	104	0	0	0	0.003214	0	44	104		
RAD51AP1	10635	broad.mit.edu	37	12	4662181	4662181	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:4662181G>A	ENST00000544927.1	+	7	599	c.589G>A	c.(589-591)Gag>Aag	p.E197K	RAD51AP1_ENST00000321524.7_Missense_Mutation_p.E214K|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.E214K|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.E79K|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.E197K					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TGATTTTTGTGAGAGTGAGGA	0.318																																						uc001qmw.2		NaN																	0					0						c.(640-642)GAG>AAG		RAD51 associated protein 1 isoform a							86.0	89.0	88.0					12																	4662181		2203	4300	6503	SO:0001583	missense	10635				double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|protein binding|RNA binding|single-stranded DNA binding	g.chr12:4662181G>A	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.589G>A	12.37:g.4662181G>A	ENSP00000446296:p.Glu197Lys					RAD51AP1_uc001qmu.2_Missense_Mutation_p.E197K|RAD51AP1_uc001qmv.2_Missense_Mutation_p.E160K|RAD51AP1_uc010sep.1_Missense_Mutation_p.E79K|RAD51AP1_uc010seq.1_Missense_Mutation_p.E79K|RAD51AP1_uc009zeg.2_RNA	p.E214K	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)		8	796	+			214						Missense_Mutation	SNP	ENST00000544927.1	37	c.640G>A		.	.	.	.	.	.	.	.	.	.	G	15.64	2.893203	0.52121	.	.	ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618;ENST00000544927	T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4	4.62	4.62	0.57501	.	0.144296	0.43416	D	0.000572	T	0.46776	0.1410	M	0.68952	2.095	0.35430	D	0.793957	P;P;D;P	0.57257	0.873;0.827;0.979;0.925	B;P;P;P	0.51324	0.385;0.526;0.666;0.621	T	0.60821	-0.7187	10	0.51188	T	0.08	-11.3484	13.1356	0.59407	0.0:0.0:1.0:0.0	.	79;214;214;197	B4DUS5;Q96B01;A8K313;Q96B01-2	.;R51A1_HUMAN;.;.	K	214;79;214;197;197	ENSP00000323750:E214K;ENSP00000439960:E79K;ENSP00000228843:E214K;ENSP00000309479:E197K;ENSP00000446296:E197K	ENSP00000228843:E214K	E	+	1	0	RAD51AP1	4532442	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	4.203000	0.58453	2.554000	0.86153	0.655000	0.94253	GAG		0.318	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1		NM_006479		17	53	0	0	0	0.006122	0	17	53		
VWF	7450	broad.mit.edu	37	12	6128469	6128469	+	Missense_Mutation	SNP	A	A	G	rs61750070		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:6128469A>G	ENST00000261405.5	-	28	4369	c.4115T>C	c.(4114-4116)aTc>aCc	p.I1372T		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1372	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGGGCGGTCGATCTTGCTGAA	0.612																																						uc001qnn.1		NaN																	0				skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12	GRCh37	CM076587	VWF	M	rs61750070	c.(4114-4116)ATC>ACC		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						58.0	54.0	55.0					12																	6128469		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128469A>G		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4115T>C	12.37:g.6128469A>G	ENSP00000261405:p.Ile1372Thr					VWF_uc010set.1_Intron	p.I1372T	NM_000552	NP_000543	P04275	VWF_HUMAN			28	4365	-			1372			VWFA 1; binding site for platelet glycoprotein Ib.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.4115T>C	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	7.449	0.642265	0.14451	.	.	ENSG00000110799	ENST00000261405	D	0.97529	-4.42	4.98	2.48	0.30137	von Willebrand factor, type A (3);	0.783338	0.10880	N	0.623876	D	0.95401	0.8507	M	0.76938	2.355	0.09310	N	0.999999	B	0.09022	0.002	B	0.15870	0.014	D	0.88733	0.3238	10	0.31617	T	0.26	.	6.5397	0.22372	0.6651:0.0:0.3349:0.0	.	1372	P04275	VWF_HUMAN	T	1372	ENSP00000261405:I1372T	ENSP00000261405:I1372T	I	-	2	0	VWF	5998730	0.138000	0.22547	0.007000	0.13788	0.812000	0.45895	2.979000	0.49313	0.905000	0.36596	0.454000	0.30748	ATC		0.612	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1		NM_000552		34	85	0	0	0	0.003271	0	34	85		
PLEKHG6	55200	broad.mit.edu	37	12	6436472	6436472	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:6436472G>T	ENST00000396988.3	+	15	1953	c.1723G>T	c.(1723-1725)Gat>Tat	p.D575Y	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.D575Y|PLEKHG6_ENST00000449001.2_Missense_Mutation_p.D543Y|PLEKHG6_ENST00000304581.8_Missense_Mutation_p.D105Y	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	575						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGAAGACACAGATGAAGATGC	0.557											OREG0021622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001qnr.2		NaN																	0				large_intestine(1)|skin(1)	2						c.(1723-1725)GAT>TAT		pleckstrin homology domain-containing family G							147.0	138.0	141.0					12																	6436472		2203	4300	6503	SO:0001583	missense	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6436472G>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1723G>T	12.37:g.6436472G>T	ENSP00000380185:p.Asp575Tyr		OREG0021622	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	634	PLEKHG6_uc010sew.1_Missense_Mutation_p.D575Y|PLEKHG6_uc010sex.1_Missense_Mutation_p.D543Y	p.D575Y	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN			15	1871	+			575					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	ENST00000396988.3	37	c.1723G>T	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.295531	0.23564	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	T;T;T	0.65178	-0.02;-0.02;-0.14	5.45	5.45	0.79879	.	0.122396	0.37348	N	0.002134	T	0.66386	0.2784	L	0.34521	1.04	0.38589	D	0.950381	D;D	0.58620	0.983;0.971	P;P	0.60415	0.874;0.751	T	0.66555	-0.5894	10	0.35671	T	0.21	-15.1262	14.7739	0.69703	0.0:0.0:1.0:0.0	.	543;575	Q3KR16-2;Q3KR16	.;PKHG6_HUMAN	Y	575;575;543;105	ENSP00000011684:D575Y;ENSP00000380185:D575Y;ENSP00000393194:D543Y	ENSP00000011684:D575Y	D	+	1	0	PLEKHG6	6306733	0.979000	0.34478	0.596000	0.28811	0.064000	0.16182	4.484000	0.60271	2.547000	0.85894	0.655000	0.94253	GAT		0.557	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1		NM_018173		54	159	1	0	3.85841e-42	0.00361	5.24556e-42	54	159		
ARHGDIB	397	broad.mit.edu	37	12	15100819	15100819	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:15100819T>C	ENST00000228945.4	-	4	474	c.330A>G	c.(328-330)aaA>aaG	p.K110K	ARHGDIB_ENST00000539131.1_5'UTR|ARHGDIB_ENST00000541546.1_Silent_p.K110K|ARHGDIB_ENST00000541644.1_Silent_p.K110K	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	110					actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|negative regulation of cell adhesion (GO:0007162)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						TGAAGTGAATTTTGACTCTAT	0.343																																						uc001rcq.1		NaN																	0					0						c.(328-330)AAA>AAG		Rho GDP dissociation inhibitor (GDI) beta							154.0	149.0	151.0					12																	15100819		2202	4300	6502	SO:0001819	synonymous_variant	397				actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity	g.chr12:15100819T>C	L07916	CCDS8671.1	12p12.3	2014-01-30				ENSG00000111348		"""Endogenous ligands"""	679	protein-coding gene	gene with protein product		602843		RAP1GN1, GDIA2, GDID4		8434008, 8356058	Standard	NM_001175		Approved	Ly-GDI, RhoGDI2	uc001rcq.1	P52566		ENST00000228945.4:c.330A>G	12.37:g.15100819T>C						ARHGDIB_uc001rcp.1_RNA	p.K110K	NM_001175	NP_001166	P52566	GDIR2_HUMAN			4	434	-			110					B5BU79	Silent	SNP	ENST00000228945.4	37	c.330A>G	CCDS8671.1	.	.	.	.	.	.	.	.	.	.	T	5.975	0.363826	0.11296	.	.	ENSG00000111348	ENST00000536592	.	.	.	5.23	2.79	0.32731	.	.	.	.	.	T	0.55909	0.1950	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47328	-0.9126	4	.	.	.	-6.7199	7.5694	0.27898	0.0:0.191:0.0:0.809	.	.	.	.	D	104	.	.	N	-	1	0	ARHGDIB	14992086	1.000000	0.71417	0.999000	0.59377	0.646000	0.38490	1.922000	0.40045	0.410000	0.25675	0.482000	0.46254	AAT		0.343	ARHGDIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400871.1		NM_001175		29	72	0	0	0	0.008361	0	29	72		
ITPR2	3709	broad.mit.edu	37	12	26810951	26810951	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:26810951G>A	ENST00000381340.3	-	17	2415	c.1999C>T	c.(1999-2001)Caa>Taa	p.Q667*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	667					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TACTTAGTTTGAATGAGAATG	0.348																																						uc001rhg.2		NaN																	0				kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	14						c.(1999-2001)CAA>TAA		inositol 1,4,5-triphosphate receptor, type 2							116.0	109.0	111.0					12																	26810951		1865	4101	5966	SO:0001587	stop_gained	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26810951G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1999C>T	12.37:g.26810951G>A	ENSP00000370744:p.Gln667*						p.Q667*	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			17	2416	-	Colorectal(261;0.0847)		667			Cytoplasmic (Potential).		O94773	Nonsense_Mutation	SNP	ENST00000381340.3	37	c.1999C>T	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	43	10.167686	0.99351	.	.	ENSG00000123104	ENST00000381340	.	.	.	4.63	3.69	0.42338	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	13.53	0.61617	0.0:0.2904:0.7096:0.0	.	.	.	.	X	667	.	ENSP00000370744:Q667X	Q	-	1	0	ITPR2	26702218	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.809000	0.55606	2.401000	0.81631	0.655000	0.94253	CAA		0.348	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223		28	68	0	0	0	0.00632	0	28	68		
PUS7L	83448	broad.mit.edu	37	12	44148459	44148459	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:44148459A>T	ENST00000416848.2	-	2	1078	c.590T>A	c.(589-591)gTa>gAa	p.V197E	PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000553166.1_Missense_Mutation_p.V197E|PUS7L_ENST00000551923.1_Missense_Mutation_p.V197E|PUS7L_ENST00000344862.5_Missense_Mutation_p.V197E	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	197					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		ATTTGGTTTTACAACAATTTC	0.323																																						uc001rnq.3		NaN																	0				pancreas(1)	1						c.(589-591)GTA>GAA		pseudouridylate synthase 7 homolog (S.							57.0	57.0	57.0					12																	44148459		2203	4299	6502	SO:0001583	missense	83448				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr12:44148459A>T	BX647494	CCDS8743.1, CCDS61104.1	12q12	2006-02-07				ENSG00000129317			25276	protein-coding gene	gene with protein product						11230166	Standard	NM_001098615		Approved	DKFZP434G1415	uc001rnr.5	Q9H0K6	OTTHUMG00000169423	ENST00000416848.2:c.590T>A	12.37:g.44148459A>T	ENSP00000415899:p.Val197Glu					PUS7L_uc001rnr.3_Missense_Mutation_p.V197E|PUS7L_uc001rns.3_Missense_Mutation_p.V197E|PUS7L_uc009zkb.2_Intron	p.V197E	NM_001098615	NP_001092085	Q9H0K6	PUS7L_HUMAN		GBM - Glioblastoma multiforme(48;0.0402)	2	1079	-	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)	197					B3KUJ1|Q05CU0|Q6AHZ3|Q6NUP2	Missense_Mutation	SNP	ENST00000416848.2	37	c.590T>A	CCDS8743.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.639673	0.87760	.	.	ENSG00000129317	ENST00000416848;ENST00000344862;ENST00000551923;ENST00000553166	T;T;T;T	0.38077	1.45;1.45;1.45;1.16	5.35	5.35	0.76521	Pseudouridine synthase, catalytic domain (1);	0.056758	0.64402	D	0.000001	T	0.58366	0.2117	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.59721	-0.7401	10	0.49607	T	0.09	-17.0769	16.0475	0.80731	1.0:0.0:0.0:0.0	.	197	Q9H0K6	PUS7L_HUMAN	E	197	ENSP00000415899:V197E;ENSP00000343081:V197E;ENSP00000447706:V197E;ENSP00000446865:V197E	ENSP00000343081:V197E	V	-	2	0	PUS7L	42434726	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.849000	0.75414	2.333000	0.79357	0.533000	0.62120	GTA		0.323	PUS7L-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403931.1		NM_031292		30	73	0	0	0	0.007291	0	30	73		
DDN	23109	broad.mit.edu	37	12	49392962	49392962	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:49392962C>A	ENST00000421952.2	-	1	130	c.109G>T	c.(109-111)Gaa>Taa	p.E37*	RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	37						cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						GTCTTCACTTCTATCACCAAT	0.607																																						uc001rsv.1		NaN																	0				large_intestine(1)	1						c.(109-111)GAA>TAA		dendrin							54.0	61.0	59.0					12																	49392962		692	1591	2283	SO:0001587	stop_gained	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49392962C>A	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.109G>T	12.37:g.49392962C>A	ENSP00000390590:p.Glu37*					uc001rsw.2_Intron	p.E37*	NM_015086	NP_055901	O94850	DEND_HUMAN			1	127	-			37						Nonsense_Mutation	SNP	ENST00000421952.2	37	c.109G>T	CCDS31791.2	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843059	0.71488	.	.	ENSG00000181418	ENST00000421952	.	.	.	3.45	3.45	0.39498	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.1024	0.48182	0.0:1.0:0.0:0.0	.	.	.	.	X	37	.	ENSP00000390590:E37X	E	-	1	0	DDN	47679229	0.932000	0.31603	1.000000	0.80357	0.977000	0.68977	0.296000	0.19083	1.859000	0.53934	0.462000	0.41574	GAA		0.607	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1				16	30	1	0	4.7546e-09	0.004007	5.94516e-09	16	30		
KRT18	3875	broad.mit.edu	37	12	53345517	53345517	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:53345517T>G	ENST00000388835.3	+	5	1035	c.825T>G	c.(823-825)atT>atG	p.I275M	KRT8_ENST00000546897.1_5'Flank|KRT18_ENST00000388837.2_Missense_Mutation_p.I275M|KRT18_ENST00000550600.1_Missense_Mutation_p.I275M|KRT8_ENST00000552551.1_5'Flank|KRT8_ENST00000549198.1_5'Flank|AC107016.2_ENST00000581256.1_RNA	NM_000224.2	NP_000215.1	P05783	K1C18_HUMAN	keratin 18	275	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis (GO:0009653)|cell cycle (GO:0007049)|extrinsic apoptotic signaling pathway (GO:0097191)|Golgi to plasma membrane CFTR protein transport (GO:0043000)|hepatocyte apoptotic process (GO:0097284)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of apoptotic process (GO:0043066)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell periphery (GO:0071944)|centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						TCCTGCAGATTGAGGAGAGCA	0.607																																						uc001sbe.2		NaN																	0				skin(1)	1						c.(823-825)ATT>ATG		keratin 18							84.0	89.0	88.0					12																	53345517		2203	4300	6503	SO:0001583	missense	3875				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity	g.chr12:53345517T>G		CCDS31809.1	12q13	2013-01-16			ENSG00000111057	ENSG00000111057		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6430	protein-coding gene	gene with protein product		148070				1705144, 16831889	Standard	NM_000224		Approved		uc001sbg.3	P05783	OTTHUMG00000169882	ENST00000388835.3:c.825T>G	12.37:g.53345517T>G	ENSP00000373487:p.Ile275Met					KRT18_uc009zmn.1_Missense_Mutation_p.I275M|KRT18_uc001sbf.1_Missense_Mutation_p.I102M|KRT18_uc001sbg.2_Missense_Mutation_p.I275M|KRT18_uc009zmo.2_Missense_Mutation_p.I275M|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	p.I275M	NM_199187	NP_954657	P05783	K1C18_HUMAN			6	894	+			275			Interaction with DNAJB6.|Coil 2.|Rod.|Necessary for interaction with PNN.		Q53G38|Q5U0N8|Q9BW26	Missense_Mutation	SNP	ENST00000388835.3	37	c.825T>G	CCDS31809.1	.	.	.	.	.	.	.	.	.	.	t	13.21	2.168233	0.38315	.	.	ENSG00000111057	ENST00000388837;ENST00000550600;ENST00000388835	D;D;D	0.89270	-2.49;-2.49;-2.49	3.79	-1.66	0.08265	Filament (1);	0.110805	0.39475	N	0.001358	D	0.84754	0.5542	M	0.69463	2.115	0.39696	D	0.971117	B;B	0.26577	0.153;0.048	B;B	0.38683	0.279;0.259	T	0.70648	-0.4814	10	0.34782	T	0.22	.	0.9134	0.01299	0.1628:0.3023:0.1671:0.3678	.	275;275	F8VZY9;P05783	.;K1C18_HUMAN	M	275	ENSP00000373489:I275M;ENSP00000447278:I275M;ENSP00000373487:I275M	ENSP00000373487:I275M	I	+	3	3	KRT18	51631784	0.000000	0.05858	0.996000	0.52242	0.792000	0.44763	-1.215000	0.02985	-0.282000	0.09128	0.402000	0.26972	ATT		0.607	KRT18-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406405.1		NM_199187		8	38	0	0	0	0.00308	0	8	38		
PFDN5	5204	broad.mit.edu	37	12	53689715	53689715	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:53689715G>A	ENST00000551018.1	+	2	442	c.165G>A	c.(163-165)aaG>aaA	p.K55K	PFDN5_ENST00000351500.3_Intron|PFDN5_ENST00000550846.1_Intron|RP11-680A11.5_ENST00000550263.1_RNA|PFDN5_ENST00000334478.4_Silent_p.K55K	NM_002624.3	NP_002615.2	Q99471	PFD5_HUMAN	prefoldin subunit 5	55					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|protein folding (GO:0006457)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						TGCTGAACAAGAGCAACGAGG	0.517																																						uc001scl.2		NaN																	0				ovary(1)	1						c.(163-165)AAG>AAA		prefoldin subunit 5 isoform alpha							99.0	79.0	86.0					12																	53689715		2203	4300	6503	SO:0001819	synonymous_variant	5204				'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding	g.chr12:53689715G>A	D89667	CCDS8853.1, CCDS8854.1	12q13.13	2008-05-14	2006-02-24						8869	protein-coding gene	gene with protein product		604899	"""prefoldin 5"""			9630229, 9792694	Standard	NM_002624		Approved	PFD5, MM-1	uc001scl.3	Q99471	OTTHUMG00000169675	ENST00000551018.1:c.165G>A	12.37:g.53689715G>A						PFDN5_uc001scm.2_Intron|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA	p.K55K	NM_002624	NP_002615	Q99471	PFD5_HUMAN			2	282	+			55					A8K9A8|Q54AA8|Q9C083|Q9C084	Silent	SNP	ENST00000551018.1	37	c.165G>A	CCDS8853.1																																																																																				0.517	PFDN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405368.2				18	32	0	0	0	0.001882	0	18	32		
ATP5B	506	broad.mit.edu	37	12	57037667	57037667	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:57037667G>A	ENST00000262030.3	-	4	611	c.561C>T	c.(559-561)atC>atT	p.I187I	SNORD59A_ENST00000384304.1_RNA|ATP5B_ENST00000552919.1_Silent_p.I187I|ATP5B_ENST00000550162.1_5'Flank	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	187					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGACAACCTTGATACCAGTCA	0.428																																						uc001slr.2		NaN																	0				ovary(1)	1						c.(559-561)ATC>ATT		mitochondrial ATP synthase beta subunit							131.0	109.0	117.0					12																	57037667		2203	4300	6503	SO:0001819	synonymous_variant	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57037667G>A	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.561C>T	12.37:g.57037667G>A						SNORD59B_uc001sls.1_5'Flank	p.I187I	NM_001686	NP_001677	P06576	ATPB_HUMAN			4	666	-			187					A8K4X0|Q14283	Silent	SNP	ENST00000262030.3	37	c.561C>T	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348744	0.24426	.	.	ENSG00000110955	ENST00000552959	.	.	.	5.56	3.69	0.42338	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-13.8385	4.2469	0.10675	0.2414:0.0:0.5879:0.1707	.	.	.	.	X	124	.	.	Q	-	1	0	ATP5B	55323934	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.049000	0.30392	0.677000	0.31305	0.313000	0.20887	CAA		0.428	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1		NM_001686		21	73	0	0	0	0.001882	0	21	73		
METTL21B	25895	broad.mit.edu	37	12	58174278	58174278	+	Missense_Mutation	SNP	A	A	G	rs375315307		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:58174278A>G	ENST00000300209.8	+	3	655	c.530A>G	c.(529-531)tAt>tGt	p.Y177C	METTL21B_ENST00000333012.5_3'UTR|TSFM_ENST00000540550.1_5'Flank|RP11-571M6.15_ENST00000553083.1_Intron|TSFM_ENST00000323833.8_5'Flank|TSFM_ENST00000550559.1_5'Flank|TSFM_ENST00000350762.5_5'Flank|TSFM_ENST00000548851.1_5'Flank|METTL21B_ENST00000551420.1_5'UTR|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000454289.3_5'Flank|TSFM_ENST00000543727.1_5'Flank	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B	177						cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						GGCACCATCTATCTGGCCTCC	0.582																																						uc001sqg.2		NaN																	0					0						c.(529-531)TAT>TGT		hypothetical protein LOC25895 isoform a		A	CYS/TYR,	1,4405	2.1+/-5.4	0,1,2202	77.0	63.0	68.0		530,	4.0	1.0	12		68	0,8600		0,0,4300	no	missense,utr-3	METTL21B	NM_015433.2,NM_206914.1	194,	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging,	177/227,	58174278	1,13005	2203	4300	6503	SO:0001583	missense	25895					integral to membrane|intracellular	methyltransferase activity	g.chr12:58174278A>G	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459	ENST00000300209.8:c.530A>G	12.37:g.58174278A>G	ENSP00000300209:p.Tyr177Cys					FAM119B_uc001sqf.2_3'UTR|FAM119B_uc009zqd.2_RNA|TSFM_uc001sqi.2_5'Flank|TSFM_uc010sse.1_5'Flank|TSFM_uc001sqh.2_5'Flank|TSFM_uc010ssf.1_5'Flank	p.Y177C	NM_015433	NP_056248	Q96AZ1	MT21B_HUMAN			3	655	+	all_cancers(7;9.07e-82)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		177					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.530A>G	CCDS8957.1	.	.	.	.	.	.	.	.	.	.	A	16.73	3.203122	0.58234	2.27E-4	0.0	ENSG00000123427	ENST00000300209	T	0.07114	3.22	5.2	3.98	0.46160	.	0.304354	0.31797	N	0.007053	T	0.18593	0.0446	L	0.52823	1.66	0.80722	D	1	D	0.69078	0.997	D	0.66497	0.944	T	0.00518	-1.1693	9	.	.	.	.	8.5812	0.33630	0.7134:0.0:0.0:0.2866	.	177	Q96AZ1	MT21B_HUMAN	C	177	ENSP00000300209:Y177C	.	Y	+	2	0	METTL21B	56460545	0.997000	0.39634	1.000000	0.80357	0.944000	0.59088	1.732000	0.38146	1.958000	0.56883	0.455000	0.32223	TAT		0.582	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1		NM_015433		24	40	0	0	0	0.00278	0	24	40		
GNS	2799	broad.mit.edu	37	12	65116858	65116858	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:65116858G>T	ENST00000258145.3	-	11	1406	c.1236C>A	c.(1234-1236)gtC>gtA	p.V412V	GNS_ENST00000418919.2_Silent_p.V356V|GNS_ENST00000543646.1_Silent_p.V444V|GNS_ENST00000542058.1_Silent_p.V392V	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	412					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		ATTCCACCAGGACATCTGATC	0.453																																						uc001ssg.3		NaN																	0				central_nervous_system(1)	1						c.(1234-1236)GTC>GTA		glucosamine (N-acetyl)-6-sulfatase precursor							180.0	150.0	160.0					12																	65116858		2203	4300	6503	SO:0001819	synonymous_variant	2799					lysosome	metal ion binding|N-acetylglucosamine-6-sulfatase activity|protein binding	g.chr12:65116858G>T		CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1236C>A	12.37:g.65116858G>T						GNS_uc001ssf.2_Silent_p.V356V|GNS_uc010ssq.1_Silent_p.V444V|GNS_uc010ssr.1_Silent_p.V392V	p.V412V	NM_002076	NP_002067	P15586	GNS_HUMAN	LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)	11	1406	-	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		412					B4DYH8|Q53F05	Silent	SNP	ENST00000258145.3	37	c.1236C>A	CCDS8970.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306540	0.23736	.	.	ENSG00000135677	ENST00000540196	.	.	.	5.06	3.15	0.36227	.	.	.	.	.	T	0.54224	0.1845	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46386	-0.9195	4	.	.	.	-10.4365	5.717	0.17966	0.2885:0.1389:0.5725:0.0	.	.	.	.	T	198	.	.	P	-	1	0	GNS	63403125	0.967000	0.33354	0.981000	0.43875	0.983000	0.72400	0.077000	0.14738	0.587000	0.29643	0.491000	0.48974	CCT		0.453	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401195.2				33	82	1	0	9.8876e-21	0.004878	1.30771e-20	33	82		
PPP1R12A	4659	broad.mit.edu	37	12	80202350	80202350	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:80202350T>C	ENST00000450142.2	-	11	1729	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	PPP1R12A_ENST00000261207.5_Missense_Mutation_p.D488G|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.D488G|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.D401G|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.D488G	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	488					centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCCTTTACTATCTTTCTCCTA	0.323																																						uc001syz.2		NaN																	0				ovary(2)|breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1462-1464)GAT>GGT		protein phosphatase 1, regulatory (inhibitor)							127.0	120.0	122.0					12																	80202350		1819	4073	5892	SO:0001583	missense	4659					contractile fiber	protein binding|signal transducer activity	g.chr12:80202350T>C	D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.1463A>G	12.37:g.80202350T>C	ENSP00000389168:p.Asp488Gly					PPP1R12A_uc010suc.1_Missense_Mutation_p.D401G|PPP1R12A_uc001sza.2_Missense_Mutation_p.D488G|PPP1R12A_uc010sud.1_Missense_Mutation_p.D488G|PPP1R12A_uc001szb.2_Missense_Mutation_p.D488G|PPP1R12A_uc001szc.2_Missense_Mutation_p.D488G	p.D488G	NM_002480	NP_002471	O14974	MYPT1_HUMAN			11	1730	-			488					B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	ENST00000450142.2	37	c.1463A>G	CCDS44947.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.4|25.4	4.635793|4.635793	0.87760|0.87760	.|.	.|.	ENSG00000058272|ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131|ENST00000553081	T;T;T;T;T;T;T|.	0.46819|.	1.23;1.23;1.26;1.24;1.19;1.21;0.86|.	5.4|5.4	5.4|5.4	0.78164|0.78164	.|.	0.045942|.	0.85682|.	D|.	0.000000|.	T|T	0.68787|0.68787	0.3039|0.3039	L|L	0.53249|0.53249	1.67|1.67	0.58432|0.58432	D|D	0.999999|0.999999	P;D;D;D|.	0.67145|.	0.827;0.987;0.987;0.996|.	P;P;P;P|.	0.59357|.	0.52;0.856;0.71;0.824|.	T|T	0.67233|0.67233	-0.5722|-0.5722	10|5	0.72032|.	D|.	0.01|.	.|.	15.4409|15.4409	0.75181|0.75181	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	488;488;488;488|.	F8W8Q6;O14974-2;O14974-3;O14974|.	.;.;.;MYPT1_HUMAN|.	G|V	488;488;488;488;488;488;488;401;488;488;183|92	ENSP00000261207:D488G;ENSP00000389168:D488G;ENSP00000416769:D488G;ENSP00000449514:D401G;ENSP00000446855:D488G;ENSP00000446816:D488G;ENSP00000450061:D183G|.	ENSP00000261207:D488G|.	D|I	-|-	2|1	0|0	PPP1R12A|PPP1R12A	78726481|78726481	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	7.537000|7.537000	0.82033|0.82033	2.054000|2.054000	0.61138|0.61138	0.533000|0.533000	0.62120|0.62120	GAT|ATA		0.323	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407254.2		NM_002480		42	135	0	0	0	0.002852	0	42	135		
APAF1	317	broad.mit.edu	37	12	99120994	99120994	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:99120994C>T	ENST00000551964.1	+	26	4236	c.3500C>T	c.(3499-3501)cCg>cTg	p.P1167L	APAF1_ENST00000549007.1_Missense_Mutation_p.P1082L|APAF1_ENST00000550527.1_Missense_Mutation_p.P1156L|APAF1_ENST00000547045.1_Missense_Mutation_p.P1124L|APAF1_ENST00000359972.2_Missense_Mutation_p.P1113L|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.P1082L|APAF1_ENST00000357310.1_Missense_Mutation_p.P1124L|APAF1_ENST00000333991.1_Intron	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1167					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)	p.P1167Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTGTGTGCTCCGCTTTCAGAA	0.423																																						uc001tfz.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(1)	3						c.(3499-3501)CCG>CTG		apoptotic peptidase activating factor 1 isoform	Adenosine triphosphate(DB00171)						117.0	117.0	117.0					12																	99120994		2203	4300	6503	SO:0001583	missense	317				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding	g.chr12:99120994C>T	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.3500C>T	12.37:g.99120994C>T	ENSP00000448165:p.Pro1167Leu					APAF1_uc001tfy.2_Missense_Mutation_p.P1156L|APAF1_uc001tga.2_Missense_Mutation_p.P1113L|APAF1_uc001tgb.2_Missense_Mutation_p.P1124L|APAF1_uc001tgc.2_Intron|APAF1_uc009zto.2_Missense_Mutation_p.P491L	p.P1167L	NM_181861	NP_863651	O14727	APAF_HUMAN			26	4077	+			1167					B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Missense_Mutation	SNP	ENST00000551964.1	37	c.3500C>T	CCDS9069.1	.	.	.	.	.	.	.	.	.	.	C	13.86	2.363478	0.41902	.	.	ENSG00000120868	ENST00000551964;ENST00000359972;ENST00000357310;ENST00000339433;ENST00000550527;ENST00000547045;ENST00000549007	T;T;T;T;T;T;T	0.64803	-0.12;0.04;2.36;0.26;-0.11;2.36;0.26	5.43	5.43	0.79202	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.429939	0.26304	N	0.025156	T	0.66906	0.2837	L	0.31664	0.95	0.80722	D	1	P;P;P;P;D	0.89917	0.8;0.873;0.757;0.841;1.0	B;P;B;B;D	0.77557	0.206;0.473;0.194;0.123;0.99	T	0.66846	-0.5820	10	0.48119	T	0.1	-9.2637	10.72	0.46034	0.1469:0.7113:0.1418:0.0	.	1082;1124;1113;1167;1156	C9JLV4;O14727-4;O14727-3;O14727;O14727-2	.;.;.;APAF_HUMAN;.	L	1167;1113;1124;1082;1156;1124;1082	ENSP00000448165:P1167L;ENSP00000353059:P1113L;ENSP00000349862:P1124L;ENSP00000341830:P1082L;ENSP00000448449:P1156L;ENSP00000449791:P1124L;ENSP00000448161:P1082L	ENSP00000341830:P1082L	P	+	2	0	APAF1	97645125	0.468000	0.25839	0.946000	0.38457	0.139000	0.21198	0.982000	0.29539	2.546000	0.85860	0.650000	0.86243	CCG		0.423	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408006.1		NM_181861.1		28	138	0	0	0	0.004656	0	28	138		
ANKS1B	56899	broad.mit.edu	37	12	100377915	100377915	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:100377915C>T	ENST00000547776.2	-	1	100	c.101G>A	c.(100-102)gGa>gAa	p.G34E	ANKS1B_ENST00000329257.7_Missense_Mutation_p.G34E|ANKS1B_ENST00000547010.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	34						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		GGGTCCGGATCCACCGCCCAG	0.582																																						uc001tge.1		NaN																	0					0						c.(100-102)GGA>GAA		cajalin 2 isoform a							72.0	81.0	78.0					12																	100377915		1974	4134	6108	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100377915C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.101G>A	12.37:g.100377915C>T	ENSP00000449629:p.Gly34Glu					ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Missense_Mutation_p.G34E	p.G34E	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	1	518	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	34					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.101G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198844	0.79015	.	.	ENSG00000185046	ENST00000547776;ENST00000329257;ENST00000549866	T;T;T	0.44482	0.94;0.94;0.92	4.5	4.5	0.54988	Ankyrin repeat-containing domain (3);	0.000000	0.45126	D	0.000389	T	0.48333	0.1494	N	0.20685	0.6	0.80722	D	1	D;P	0.89917	1.0;0.716	D;B	0.91635	0.999;0.376	T	0.44832	-0.9302	9	.	.	.	-1.3564	15.3572	0.74437	0.0:1.0:0.0:0.0	.	34;34	F8VVQ4;Q7Z6G8	.;ANS1B_HUMAN	E	34	ENSP00000449629:G34E;ENSP00000331381:G34E;ENSP00000449894:G34E	.	G	-	2	0	ANKS1B	98902046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.141000	0.58038	2.048000	0.60808	0.462000	0.41574	GGA		0.582	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3		NM_020140		23	78	0	0	0	0.00333	0	23	78		
ANKS1B	56899	broad.mit.edu	37	12	100378001	100378001	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:100378001C>T	ENST00000547776.2	-	1	14	c.15G>A	c.(13-15)caG>caA	p.Q5Q	ANKS1B_ENST00000329257.7_Silent_p.Q5Q|ANKS1B_ENST00000547010.1_5'UTR	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	5						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CCAGCAGCTCCTGGTCCTTCC	0.642																																						uc001tge.1		NaN																	0					0						c.(13-15)CAG>CAA		cajalin 2 isoform a							48.0	54.0	52.0					12																	100378001		1928	4123	6051	SO:0001819	synonymous_variant	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:100378001C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.15G>A	12.37:g.100378001C>T						ANKS1B_uc001tgf.1_5'UTR|ANKS1B_uc009ztt.1_Silent_p.Q5Q	p.Q5Q	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	1	432	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	5			ANK 1.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Silent	SNP	ENST00000547776.2	37	c.15G>A	CCDS55872.1																																																																																				0.642	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3		NM_020140		13	47	0	0	0	0.00245	0	13	47		
PARPBP	55010	broad.mit.edu	37	12	102569339	102569339	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:102569339A>G	ENST00000358383.5	+	7	945	c.900A>G	c.(898-900)aaA>aaG	p.K300K	PARPBP_ENST00000541394.1_Silent_p.K377K|PARPBP_ENST00000392911.2_Silent_p.K219K|PARPBP_ENST00000378128.3_Intron|PARPBP_ENST00000543784.1_Intron|PARPBP_ENST00000327680.2_Silent_p.K219K|PARPBP_ENST00000535811.1_Intron			Q9NWS1	PARI_HUMAN	PARP1 binding protein	300					DNA repair (GO:0006281)|negative regulation of double-strand break repair via homologous recombination (GO:2000042)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|lung(8)|urinary_tract(2)	11						CTTTTTGCAAAGCAATAGAGG	0.388																																						uc001tjf.2		NaN																	0					0						c.(898-900)AAA>AAG		hypothetical protein LOC55010							102.0	105.0	104.0					12																	102569339		2203	4300	6503	SO:0001819	synonymous_variant	55010				response to DNA damage stimulus	cytoplasm|nucleus	DNA binding	g.chr12:102569339A>G	AK000648	CCDS9090.1, CCDS9090.2	12q23.2	2013-03-14	2012-01-24	2012-01-24		ENSG00000185480			26074	protein-coding gene	gene with protein product	"""PARP-1 binding protein"""	613687	"""chromosome 12 open reading frame 48"""	C12orf48		20931645	Standard	NM_017915		Approved	FLJ20641, PARI	uc001tjf.3	Q9NWS1		ENST00000358383.5:c.900A>G	12.37:g.102569339A>G						C12orf48_uc001tjg.2_Silent_p.K219K|C12orf48_uc010swa.1_Silent_p.K377K|C12orf48_uc001tjh.2_Silent_p.K219K|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Silent_p.K15K|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron	p.K300K	NM_017915	NP_060385	Q9NWS1	PR1BP_HUMAN			7	1012	+			300					B4E0Y0|Q05C00|Q499L8|Q4FZA0|Q4KMW7|Q6NSC6|Q6PJA1|Q86W36	Silent	SNP	ENST00000358383.5	37	c.900A>G	CCDS9090.2																																																																																				0.388	PARPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397030.2		NM_017915		30	79	0	0	0	0.00632	0	30	79		
KIAA1033	23325	broad.mit.edu	37	12	105558026	105558026	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:105558026G>A	ENST00000332180.5	+	31	3382	c.3295G>A	c.(3295-3297)Gat>Aat	p.D1099N	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AGCCAGTCAAGATGAAAAACT	0.428																																						uc001tld.2		NaN																	0				kidney(1)|central_nervous_system(1)	2						c.(3295-3297)GAT>AAT		hypothetical protein LOC23325							100.0	96.0	97.0					12																	105558026		1881	4113	5994	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105558026G>A	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.3295G>A	12.37:g.105558026G>A	ENSP00000328062:p.Asp1099Asn					KIAA1033_uc010swr.1_Missense_Mutation_p.D1100N|KIAA1033_uc010sws.1_Missense_Mutation_p.D911N	p.D1099N	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			31	3382	+			1099						Missense_Mutation	SNP	ENST00000332180.5	37	c.3295G>A	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	G	34	5.306081	0.95629	.	.	ENSG00000136051	ENST00000332180	T	0.78595	-1.19	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.89227	0.6655	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	D	0.89310	0.3632	10	0.72032	D	0.01	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	1100;1099	B7ZKT9;Q2M389	.;WASH7_HUMAN	N	1099	ENSP00000328062:D1099N	ENSP00000328062:D1099N	D	+	1	0	KIAA1033	104082156	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GAT		0.428	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4		NM_015275		33	74	0	0	0	0.002836	0	33	74		
TCHP	84260	broad.mit.edu	37	12	110342545	110342545	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110342545G>T	ENST00000312777.5	+	4	617	c.403G>T	c.(403-405)Gct>Tct	p.A135S	TCHP_ENST00000405876.4_Missense_Mutation_p.A135S	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						TTGATAGATTGCTGAACAACT	0.373																																						uc001tpn.2		NaN																	0				skin(1)	1						c.(403-405)GCT>TCT		trichoplein							126.0	120.0	122.0					12																	110342545		2203	4300	6503	SO:0001583	missense	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110342545G>T	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.403G>T	12.37:g.110342545G>T	ENSP00000324404:p.Ala135Ser					TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.A135S	p.A135S	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN			4	556	+			135			Glu-rich.|Potential.|Interaction with keratin proteins.			Missense_Mutation	SNP	ENST00000312777.5	37	c.403G>T	CCDS9137.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824249	0.90955	.	.	ENSG00000139437	ENST00000405876;ENST00000536868;ENST00000312777;ENST00000536408	T;T;T	0.57436	1.02;1.02;0.4	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.70254	0.3203	M	0.78637	2.42	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.67264	-0.5714	10	0.14252	T	0.57	-0.0459	15.876	0.79162	0.0:0.0:1.0:0.0	.	135	Q9BT92	TCHP_HUMAN	S	135	ENSP00000384520:A135S;ENSP00000324404:A135S;ENSP00000441835:A135S	ENSP00000324404:A135S	A	+	1	0	TCHP	108826928	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	8.020000	0.88740	2.348000	0.79779	0.650000	0.86243	GCT		0.373	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1		NM_032300		18	48	1	0	2.94398e-08	0.007413	3.66352e-08	18	48		
TCHP	84260	broad.mit.edu	37	12	110345365	110345365	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110345365A>T	ENST00000312777.5	+	6	774	c.560A>T	c.(559-561)tAt>tTt	p.Y187F	TCHP_ENST00000405876.4_Missense_Mutation_p.Y187F	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						AACAAACGGTATGAAAATGAA	0.507																																						uc001tpn.2		NaN																	0				skin(1)	1						c.(559-561)TAT>TTT		trichoplein							83.0	93.0	89.0					12																	110345365		2203	4300	6503	SO:0001583	missense	84260				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	g.chr12:110345365A>T	AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.560A>T	12.37:g.110345365A>T	ENSP00000324404:p.Tyr187Phe					TCHP_uc001tpo.1_RNA|TCHP_uc001tpp.2_Missense_Mutation_p.Y187F	p.Y187F	NM_001143852	NP_001137324	Q9BT92	TCHP_HUMAN			6	713	+			187			Glu-rich.|Interaction with keratin proteins.|Potential.			Missense_Mutation	SNP	ENST00000312777.5	37	c.560A>T	CCDS9137.1	.	.	.	.	.	.	.	.	.	.	A	0.543	-0.852564	0.02630	.	.	ENSG00000139437	ENST00000405876;ENST00000536868;ENST00000312777	T;T	0.09817	2.94;2.94	4.86	-7.45	0.01374	.	0.889113	0.09992	N	0.729598	T	0.02533	0.0077	N	0.02802	-0.49	0.58432	D	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.43458	-0.9390	10	0.09843	T	0.71	8.5595	4.0145	0.09637	0.1728:0.1049:0.0877:0.6346	.	187	Q9BT92	TCHP_HUMAN	F	187	ENSP00000384520:Y187F;ENSP00000324404:Y187F	ENSP00000324404:Y187F	Y	+	2	0	TCHP	108829748	0.848000	0.29623	0.005000	0.12908	0.117000	0.20001	0.387000	0.20718	-0.867000	0.04063	0.352000	0.21897	TAT		0.507	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403289.1		NM_032300		28	83	0	0	0	0.007291	0	28	83		
IFT81	28981	broad.mit.edu	37	12	110643412	110643412	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110643412C>G	ENST00000242591.5	+	17	2235	c.1729C>G	c.(1729-1731)Caa>Gaa	p.Q577E	IFT81_ENST00000552912.1_Missense_Mutation_p.Q577E	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	577					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						CCTAGAAGTTCAACTTCGTCG	0.318																																						uc001tqi.2		NaN																	0				ovary(1)	1						c.(1729-1731)CAA>GAA		intraflagellar transport 81-like isoform 1							143.0	137.0	138.0					12																	110643412		1805	4069	5874	SO:0001583	missense	28981				cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum		g.chr12:110643412C>G	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.1729C>G	12.37:g.110643412C>G	ENSP00000242591:p.Gln577Glu					IFT81_uc001tqh.2_Missense_Mutation_p.Q577E|IFT81_uc001tqj.2_RNA	p.Q577E	NM_001143779	NP_001137251	Q8WYA0	IFT81_HUMAN			17	1859	+			577			Potential.		Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	Missense_Mutation	SNP	ENST00000242591.5	37	c.1729C>G	CCDS41831.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091829	0.36952	.	.	ENSG00000122970	ENST00000552912;ENST00000242591;ENST00000550748	.	.	.	5.65	4.75	0.60458	.	0.153398	0.64402	N	0.000014	T	0.55065	0.1897	M	0.77616	2.38	0.32822	D	0.502842	B	0.06786	0.001	B	0.10450	0.005	T	0.59322	-0.7476	9	0.15066	T	0.55	-9.888	10.8461	0.46744	0.0:0.7957:0.1324:0.0719	.	577	Q8WYA0	IFT81_HUMAN	E	577;577;8	.	ENSP00000242591:Q577E	Q	+	1	0	IFT81	109127795	1.000000	0.71417	0.982000	0.44146	0.919000	0.55068	2.723000	0.47277	1.360000	0.45960	0.563000	0.77884	CAA		0.318	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1		NM_014055		64	192	0	0	0	0.00361	0	64	192		
FAM216A	29902	broad.mit.edu	37	12	110927913	110927913	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:110927913G>A	ENST00000377673.5	+	7	1305	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A	265																	GTCAATTGAAGAACAGGGAGA	0.363																																						uc001tqu.3		NaN																	0					0						c.(793-795)GAA>AAA		hypothetical protein LOC29902							132.0	132.0	132.0					12																	110927913		2203	4300	6503	SO:0001583	missense	29902							g.chr12:110927913G>A	U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 24"""	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.793G>A	12.37:g.110927913G>A	ENSP00000366901:p.Glu265Lys					C12orf24_uc001tqv.3_RNA|C12orf24_uc009zvp.2_RNA	p.E265K	NM_013300	NP_037432	Q8WUB2	CL024_HUMAN			7	1242	+			265					A6NH30|Q99776	Missense_Mutation	SNP	ENST00000377673.5	37	c.793G>A	CCDS31899.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645392	0.87859	.	.	ENSG00000204856	ENST00000377673;ENST00000546396;ENST00000547539	T	0.58210	0.35	5.04	5.04	0.67666	.	0.000000	0.45126	D	0.000386	T	0.59018	0.2163	N	0.24115	0.695	0.33842	D	0.631525	D	0.76494	0.999	D	0.83275	0.996	T	0.70033	-0.4983	10	0.87932	D	0	-18.5704	13.7673	0.63004	0.0:0.0:1.0:0.0	.	265	Q8WUB2	CL024_HUMAN	K	265;74;34	ENSP00000366901:E265K	ENSP00000366901:E265K	E	+	1	0	C12orf24	109412296	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.459000	0.60102	2.614000	0.88457	0.557000	0.71058	GAA		0.363	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404616.1		NM_013300		36	105	0	0	0	0.005524	0	36	105		
BRAP	8315	broad.mit.edu	37	12	112097074	112097074	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:112097074C>T	ENST00000327551.6	-	8	1098	c.958G>A	c.(958-960)Gag>Aag	p.E320K	BRAP_ENST00000539060.1_Missense_Mutation_p.E171K|BRAP_ENST00000419234.4_Missense_Mutation_p.E350K			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TGCGTTTCCTCAAAGTGCTTA	0.443																																					Pancreas(146;846 1904 7830 25130 26065)	uc001tsn.3		NaN																	0				lung(1)	1						c.(1048-1050)GAG>AAG		BRCA1 associated protein							165.0	135.0	145.0					12																	112097074		2203	4300	6503	SO:0001583	missense	8315				MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr12:112097074C>T	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.958G>A	12.37:g.112097074C>T	ENSP00000330813:p.Glu320Lys					BRAP_uc010syh.1_Missense_Mutation_p.E171K|BRAP_uc009zvv.2_Missense_Mutation_p.E320K	p.E350K	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN			8	1242	-			350			UBP-type.		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	37	c.1048G>A		.	.	.	.	.	.	.	.	.	.	C	21.6	4.168945	0.78339	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.43294	0.95;0.95;0.95	5.37	5.37	0.77165	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	N	0.11845	0.185	0.80722	D	1	D;D	0.61697	0.979;0.99	D;P	0.71414	0.973;0.87	T	0.21655	-1.0239	10	0.08179	T	0.78	-23.6566	19.4458	0.94845	0.0:1.0:0.0:0.0	.	171;350	B4DRM1;Q7Z569	.;BRAP_HUMAN	K	350;171;320;132	ENSP00000403524:E350K;ENSP00000441659:E171K;ENSP00000330813:E320K	ENSP00000330813:E320K	E	-	1	0	BRAP	110581457	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.190000	0.77755	2.670000	0.90874	0.655000	0.94253	GAG		0.443	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2				33	108	0	0	0	0.003271	0	33	108		
RBM19	9904	broad.mit.edu	37	12	114358488	114358488	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:114358488G>C	ENST00000545145.2	-	19	2391	c.2313C>G	c.(2311-2313)ctC>ctG	p.L771L	RBM19_ENST00000392561.3_Silent_p.L771L|RBM19_ENST00000261741.5_Silent_p.L771L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	771	RRM 5. {ECO:0000255|PROSITE- ProRule:PRU00176}.				multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCATGGAAAGGAGCACTCCTG	0.562																																						uc009zwi.2		NaN																	0				skin(3)|ovary(1)|liver(1)|central_nervous_system(1)	6						c.(2311-2313)CTC>CTG		RNA binding motif protein 19							178.0	181.0	180.0					12																	114358488		2203	4300	6503	SO:0001819	synonymous_variant	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114358488G>C	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.2313C>G	12.37:g.114358488G>C						RBM19_uc001tvn.3_Silent_p.L771L|RBM19_uc001tvm.2_Silent_p.L771L	p.L771L	NM_001146699	NP_001140171	Q9Y4C8	RBM19_HUMAN			19	2457	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		771			RRM 5.		A8K5X9|Q9BPY6|Q9UFN5	Silent	SNP	ENST00000545145.2	37	c.2313C>G	CCDS9172.1																																																																																				0.562	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1		NM_016196		110	249	0	0	0	0.00361	0	110	249		
EP400	57634	broad.mit.edu	37	12	132547111	132547111	+	Silent	SNP	G	G	A	rs554589559	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:132547111G>A	ENST00000333577.4	+	48	8416	c.8307G>A	c.(8305-8307)caG>caA	p.Q2769Q	EP400_ENST00000332482.4_Silent_p.Q2696Q|EP400_ENST00000389562.2_Silent_p.Q2732Q|EP400_ENST00000330386.6_Silent_p.Q2652Q|EP400_ENST00000389561.2_Silent_p.Q2733Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2769	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.597													G|||	3	0.000599042	0.0	0.0	5008	,	,		15022	0.0		0.0	False		,,,				2504	0.0031					uc001ujn.2		NaN																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8197-8199)CAG>CAA		E1A binding protein p400							23.0	26.0	25.0					12																	132547111		2055	3981	6036	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547111G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8307G>A	12.37:g.132547111G>A						EP400_uc001ujl.2_Silent_p.Q2732Q|EP400_uc001ujm.2_Silent_p.Q2652Q|EP400_uc001ujp.2_5'UTR	p.Q2733Q	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	46	8234	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2769			Poly-Gln.|Interaction with ZNF42 (By similarity).		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8199G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		10	72	0	0	0	0.008291	0	10	72		
EP400	57634	broad.mit.edu	37	12	132547117	132547117	+	Silent	SNP	G	G	A	rs147048182|rs151326088	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:132547117G>A	ENST00000333577.4	+	48	8422	c.8313G>A	c.(8311-8313)caG>caA	p.Q2771Q	EP400_ENST00000332482.4_Silent_p.Q2698Q|EP400_ENST00000389562.2_Silent_p.Q2734Q|EP400_ENST00000330386.6_Silent_p.Q2654Q|EP400_ENST00000389561.2_Silent_p.Q2735Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2771	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.597													G|||	7	0.00139776	0.0015	0.0014	5008	,	,		14924	0.001		0.001	False		,,,				2504	0.002					uc001ujn.2		NaN																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8203-8205)CAG>CAA		E1A binding protein p400							24.0	26.0	26.0					12																	132547117		2116	4086	6202	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547117G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8313G>A	12.37:g.132547117G>A						EP400_uc001ujl.2_Silent_p.Q2734Q|EP400_uc001ujm.2_Silent_p.Q2654Q|EP400_uc001ujp.2_5'UTR	p.Q2735Q	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	46	8240	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2771			Poly-Gln.|Interaction with ZNF42 (By similarity).		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8205G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		9	64	0	0	0	0.004482	0	9	64		
EP400	57634	broad.mit.edu	37	12	132547120	132547120	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:132547120G>A	ENST00000333577.4	+	48	8425	c.8316G>A	c.(8314-8316)caG>caA	p.Q2772Q	EP400_ENST00000332482.4_Silent_p.Q2699Q|EP400_ENST00000389562.2_Silent_p.Q2735Q|EP400_ENST00000330386.6_Silent_p.Q2655Q|EP400_ENST00000389561.2_Silent_p.Q2736Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2772	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.592																																						uc001ujn.2		NaN																	0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(8206-8208)CAG>CAA		E1A binding protein p400							26.0	27.0	27.0					12																	132547120		2155	4176	6331	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547120G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8316G>A	12.37:g.132547120G>A						EP400_uc001ujl.2_Silent_p.Q2735Q|EP400_uc001ujm.2_Silent_p.Q2655Q|EP400_uc001ujp.2_5'UTR	p.Q2736Q	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	46	8243	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2772			Poly-Gln.|Interaction with ZNF42 (By similarity).		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8208G>A																																																																																					0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015409		11	65	0	0	0	0.008291	0	11	65		
GOLGA3	2802	broad.mit.edu	37	12	133381318	133381318	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr12:133381318G>A	ENST00000450791.2	-	6	1764	c.1581C>T	c.(1579-1581)ctC>ctT	p.L527L	GOLGA3_ENST00000537452.1_Silent_p.L527L|GOLGA3_ENST00000456883.2_Silent_p.L527L|GOLGA3_ENST00000545875.1_Silent_p.L527L|GOLGA3_ENST00000204726.3_Silent_p.L527L			Q08378	GOGA3_HUMAN	golgin A3	527					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TGTCCTTGCTGAGCATGCTCC	0.637																																						uc001ukz.1		NaN																	0				ovary(3)|central_nervous_system(2)|pancreas(1)	6						c.(1579-1581)CTC>CTT		Golgi autoantigen, golgin subfamily a, 3							135.0	98.0	110.0					12																	133381318		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133381318G>A	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1581C>T	12.37:g.133381318G>A						GOLGA3_uc001ula.1_Silent_p.L527L|GOLGA3_uc001ulb.2_Silent_p.L527L	p.L527L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	7	2140	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	527			Potential.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.1581C>T	CCDS9281.1																																																																																				0.637	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2		NM_005895		28	68	0	0	0	0.008361	0	28	68		
SMAD9	4093	broad.mit.edu	37	13	37422860	37422860	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:37422860G>C	ENST00000399275.2	-	6	1496	c.1357C>G	c.(1357-1359)Ctg>Gtg	p.L453V	SMAD9-AS1_ENST00000437983.2_RNA|SMAD9_ENST00000350148.5_Missense_Mutation_p.L416V|SMAD9_ENST00000379826.4_Missense_Mutation_p.L453V			O15198	SMAD9_HUMAN	SMAD family member 9	453	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		ATCTGAGTCAGAACTTTGTCC	0.507																																						uc001uvw.2		NaN																	0					0						c.(1357-1359)CTG>GTG		SMAD family member 9 isoform a							168.0	165.0	166.0					13																	37422860		2203	4300	6503	SO:0001583	missense	4093				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	g.chr13:37422860G>C		CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.1357C>G	13.37:g.37422860G>C	ENSP00000382216:p.Leu453Val					SMAD9_uc001uvx.2_Missense_Mutation_p.L416V|SMAD9_uc010tep.1_Missense_Mutation_p.L246V	p.L453V	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)	7	1700	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	453			MH2.		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	ENST00000399275.2	37	c.1357C>G	CCDS45032.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644971	0.87859	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	D;D;D	0.98135	-3.88;-4.74;-3.88	5.44	5.44	0.79542	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.070216	0.64402	D	0.000015	D	0.98055	0.9359	M	0.89095	3.005	0.80722	D	1	B;B	0.27679	0.041;0.185	B;B	0.36567	0.209;0.228	D	0.97697	1.0182	10	0.66056	D	0.02	.	18.6096	0.91279	0.0:0.0:1.0:0.0	.	416;453	O15198-2;O15198	.;SMAD9_HUMAN	V	453;416;453	ENSP00000382216:L453V;ENSP00000239885:L416V;ENSP00000369154:L453V	ENSP00000239885:L416V	L	-	1	2	SMAD9	36320860	1.000000	0.71417	0.997000	0.53966	0.821000	0.46438	7.789000	0.85783	2.711000	0.92665	0.561000	0.74099	CTG		0.507	SMAD9-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044525.2		NM_005905		97	188	0	0	0	0.00361	0	97	188		
FREM2	341640	broad.mit.edu	37	13	39263139	39263139	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:39263139T>C	ENST00000280481.7	+	1	1874	c.1658T>C	c.(1657-1659)tTa>tCa	p.L553S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	553					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCCATCACCTTAGTGCCTGTG	0.582																																						uc001uwv.2		NaN																	0				ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	11						c.(1657-1659)TTA>TCA		FRAS1-related extracellular matrix protein 2							74.0	64.0	68.0					13																	39263139		2203	4300	6503	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263139T>C	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1658T>C	13.37:g.39263139T>C	ENSP00000280481:p.Leu553Ser						p.L553S	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1967	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	553			CSPG 3.|Extracellular (Potential).		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1658T>C	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	18.10	3.547958	0.65311	.	.	ENSG00000150893	ENST00000280481	T	0.78364	-1.17	5.39	5.39	0.77823	.	0.077827	0.50627	D	0.000102	T	0.78233	0.4251	L	0.44542	1.39	0.47621	D	0.999475	P	0.52692	0.955	P	0.49597	0.616	T	0.81250	-0.1018	10	0.87932	D	0	.	15.4023	0.74852	0.0:0.0:0.0:1.0	.	553	Q5SZK8	FREM2_HUMAN	S	553	ENSP00000280481:L553S	ENSP00000280481:L553S	L	+	2	0	FREM2	38161139	0.985000	0.35326	0.980000	0.43619	0.998000	0.95712	8.001000	0.88508	2.049000	0.60858	0.454000	0.30748	TTA		0.582	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361		13	21	0	0	0	0.001368	0	13	21		
DIAPH3	81624	broad.mit.edu	37	13	60240843	60240843	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:60240843C>T	ENST00000400324.4	-	28	3677	c.3457G>A	c.(3457-3459)Gag>Aag	p.E1153K	DIAPH3_ENST00000377908.2_Missense_Mutation_p.E1142K|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E1083K|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E1153K|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E1107K	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	1153					actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCCTTCTTCTCAGCTGCCTTG	0.413																																						uc001vht.2		NaN																	0				ovary(2)	2						c.(3457-3459)GAG>AAG		diaphanous homolog 3 isoform a							182.0	171.0	174.0					13																	60240843		1901	4121	6022	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60240843C>T	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.3457G>A	13.37:g.60240843C>T	ENSP00000383178:p.Glu1153Lys					DIAPH3_uc001vhs.2_RNA	p.E1153K	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	28	3676	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	1153					A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.3457G>A	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274038	0.59649	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320	D;D;D;T;T	0.81659	-1.51;-1.51;-1.52;-1.49;-1.49	5.46	4.6	0.57074	.	0.244898	0.20174	U	0.097670	T	0.65238	0.2672	N	0.19112	0.55	0.27056	N	0.963662	B	0.30406	0.278	B	0.18871	0.023	T	0.61850	-0.6978	10	0.54805	T	0.06	.	10.7472	0.46187	0.0:0.8532:0.0:0.1468	.	1153	Q9NSV4	DIAP3_HUMAN	K	1153;1153;1142;1107;1083;1142;1083;1107	ENSP00000383178:E1153K;ENSP00000383184:E1153K;ENSP00000367141:E1142K;ENSP00000383173:E1083K;ENSP00000383174:E1107K	ENSP00000367141:E1142K	E	-	1	0	DIAPH3	59138844	0.983000	0.35010	0.984000	0.44739	0.982000	0.71751	2.587000	0.46128	2.546000	0.85860	0.655000	0.94253	GAG		0.413	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3		NM_001042517		37	89	0	0	0	0.002222	0	37	89		
SLITRK6	84189	broad.mit.edu	37	13	86370509	86370509	+	Silent	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:86370509T>G	ENST00000400286.2	-	2	733	c.135A>C	c.(133-135)ctA>ctC	p.L45L		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	45	LRRNT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CACAATTTATTAGCATTGTGC	0.408																																						uc001vll.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(133-135)CTA>CTC		slit and trk like 6 precursor							106.0	99.0	101.0					13																	86370509		1890	4111	6001	SO:0001819	synonymous_variant	84189					integral to membrane		g.chr13:86370509T>G	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.135A>C	13.37:g.86370509T>G						SLITRK6_uc010afe.1_5'Flank	p.L45L	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	2	594	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		45			LRRNT 1.|Extracellular (Potential).		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Silent	SNP	ENST00000400286.2	37	c.135A>C	CCDS41903.1																																																																																				0.408	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2		NM_032229		34	48	0	0	0	0.002836	0	34	48		
NALCN	259232	broad.mit.edu	37	13	101759884	101759884	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:101759884T>A	ENST00000251127.6	-	22	2614	c.2533A>T	c.(2533-2535)Agg>Tgg	p.R845W		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	845					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTCTGAACCTGTGTTCTCGC	0.502																																						uc001vox.1		NaN																	0				ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1)	16						c.(2533-2535)AGG>TGG		voltage gated channel like 1							145.0	127.0	133.0					13																	101759884		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101759884T>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.2533A>T	13.37:g.101759884T>A	ENSP00000251127:p.Arg845Trp						p.R845W	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			22	2722	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		845			Cytoplasmic (Potential).		Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.2533A>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.126702	0.56721	.	.	ENSG00000102452	ENST00000251127	D	0.97870	-4.58	5.61	4.41	0.53225	.	0.000000	0.85682	D	0.000000	D	0.93993	0.8076	N	0.19112	0.55	0.80722	D	1	B	0.21147	0.052	B	0.24269	0.052	D	0.90333	0.4353	10	0.59425	D	0.04	.	11.5867	0.50923	0.0:0.0:0.2839:0.7161	.	845	Q8IZF0	NALCN_HUMAN	W	845	ENSP00000251127:R845W	ENSP00000251127:R845W	R	-	1	2	NALCN	100557885	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.949000	0.49074	0.915000	0.36847	0.528000	0.53228	AGG		0.502	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2		NM_052867		27	55	0	0	0	0.005443	0	27	55		
FAM155A	728215	broad.mit.edu	37	13	108518492	108518492	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr13:108518492G>A	ENST00000375915.2	-	1	591	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	151						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTTGCCCCGGTCGTCTTTGC	0.692																																						uc001vql.2		NaN																	0				skin(1)	1						c.(451-453)GAC>GAT		family with sequence similarity 155, member A							11.0	16.0	14.0					13																	108518492		2118	4143	6261	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518492G>A	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.453C>T	13.37:g.108518492G>A							p.D151D	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	969	-			151					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.453C>T	CCDS32006.1																																																																																				0.692	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2		NM_001080396		16	26	0	0	0	0.004007	0	16	26		
OR4N2	390429	broad.mit.edu	37	14	20296468	20296468	+	Nonsense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:20296468T>A	ENST00000315947.1	+	1	861	c.861T>A	c.(859-861)taT>taA	p.Y287*	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGTCATTTATACCCTTCGCA	0.418																																						uc010tkv.1		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(859-861)TAT>TAA		olfactory receptor, family 4, subfamily N,							54.0	57.0	56.0					14																	20296468		2202	4299	6501	SO:0001587	stop_gained	390429				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20296468T>A		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.861T>A	14.37:g.20296468T>A	ENSP00000319601:p.Tyr287*						p.Y287*	NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	861	+	all_cancers(95;0.00108)		287			Helical; Name=7; (Potential).		Q6IEY9|Q6IFA2	Nonsense_Mutation	SNP	ENST00000315947.1	37	c.861T>A	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	11.31	1.600418	0.28534	.	.	ENSG00000176294	ENST00000315947	.	.	.	4.57	0.675	0.17952	.	0.000000	0.43110	D	0.000604	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9283	9.0999	0.36662	0.0:0.3422:0.0:0.6578	.	.	.	.	X	287	.	ENSP00000319601:Y287X	Y	+	3	2	OR4N2	19366308	0.996000	0.38824	0.932000	0.37286	0.161000	0.22273	0.468000	0.22051	-0.222000	0.09958	-1.431000	0.01090	TAT		0.418	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2				21	70	0	0	0	0.008871	0	21	70		
OR4K17	390436	broad.mit.edu	37	14	20586496	20586496	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:20586496C>T	ENST00000315543.4	+	1	931	c.931C>T	c.(931-933)Cct>Tct	p.P311S		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CATCATCACTCCTATCTTGAA	0.373																																						uc001vwo.1		NaN																	0				skin(3)	3						c.(931-933)CCT>TCT		olfactory receptor, family 4, subfamily K,							72.0	67.0	68.0					14																	20586496		2203	4299	6502	SO:0001583	missense	390436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20586496C>T		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.931C>T	14.37:g.20586496C>T	ENSP00000319197:p.Pro311Ser						p.P311S	NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)	1	931	+	all_cancers(95;0.00108)		283			Helical; Name=7; (Potential).		Q6IF12	Missense_Mutation	SNP	ENST00000315543.4	37	c.931C>T	CCDS32030.1	.	.	.	.	.	.	.	.	.	.	.	16.49	3.137706	0.56936	.	.	ENSG00000176230	ENST00000315543	T	0.00330	8.08	2.63	2.63	0.31362	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33895	U	0.004449	T	0.00875	0.0029	M	0.90145	3.09	0.37727	D	0.925119	D	0.76494	0.999	D	0.67382	0.951	T	0.61826	-0.6983	10	0.87932	D	0	.	12.3694	0.55246	0.0:1.0:0.0:0.0	.	283	Q8NGC6	OR4KH_HUMAN	S	311	ENSP00000319197:P311S	ENSP00000319197:P311S	P	+	1	0	OR4K17	19656336	0.991000	0.36638	0.988000	0.46212	0.791000	0.44710	4.495000	0.60353	1.452000	0.47756	0.404000	0.27445	CCT		0.373	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1				12	38	0	0	0	0.001855	0	12	38		
TEP1	7011	broad.mit.edu	37	14	20848088	20848088	+	Splice_Site	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:20848088C>A	ENST00000262715.5	-	35	5168		c.e35+1		TEP1_ENST00000545983.1_Splice_Site|TEP1_ENST00000556935.1_Splice_Site	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GATTGTCATACCTGCCAAGTT	0.507																																						uc001vxe.2		NaN																	0				ovary(5)	5						c.e35+1		telomerase-associated protein 1							61.0	61.0	61.0					14																	20848088		2203	4300	6503	SO:0001630	splice_region_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20848088C>A		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5127+1G>T	14.37:g.20848088C>A						TEP1_uc010ahk.2_Splice_Site_p.Q1052_splice|TEP1_uc010tlf.1_Splice_Site|TEP1_uc010tlg.1_Splice_Site_p.Q1601_splice|TEP1_uc010tlh.1_Splice_Site_p.Q47_splice	p.Q1709_splice	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	35	5167	-	all_cancers(95;0.00123)	all_lung(585;0.235)						A0AUV9	Splice_Site	SNP	ENST00000262715.5	37	c.5127_splice	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984728	0.74474	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.12	0.81346	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TEP1	19917928	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.935000	0.56560	2.538000	0.85594	0.655000	0.94253	.		0.507	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2		NM_007110	Intron	16	56	1	0	0.00400662	0.004007	0.00485406	16	56		
AP1G2	8906	broad.mit.edu	37	14	24034889	24034889	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:24034889T>C	ENST00000308724.5	-	6	1422	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	AP1G2_ENST00000397120.3_Missense_Mutation_p.I223V|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000556277.1_5'UTR	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	223					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GTCCGGAGGATGTGTACCAGC	0.557																																						uc001wkl.2		NaN																	0				ovary(1)	1						c.(667-669)ATC>GTC		adaptor-related protein complex 1, gamma 2							73.0	68.0	70.0					14																	24034889		2203	4300	6503	SO:0001583	missense	8906				interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity	g.chr14:24034889T>C	AB015318	CCDS9602.1	14q11.2	2008-07-03			ENSG00000213983	ENSG00000213983			556	protein-coding gene	gene with protein product		603534				9733768, 9762922	Standard	XM_005268167		Approved	G2AD	uc001wkl.2	O75843	OTTHUMG00000028760	ENST00000308724.5:c.667A>G	14.37:g.24034889T>C	ENSP00000312442:p.Ile223Val					AP1G2_uc001wkj.2_5'UTR|AP1G2_uc001wkk.3_Missense_Mutation_p.I151V|AP1G2_uc001wkn.2_5'UTR|uc001wko.1_RNA|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.I223V|AP1G2_uc010aks.2_Missense_Mutation_p.I151V|AP1G2_uc010akt.2_Missense_Mutation_p.I151V|AP1G2_uc010tnq.1_RNA	p.I223V	NM_003917	NP_003908	O75843	AP1G2_HUMAN		GBM - Glioblastoma multiforme(265;0.00672)	7	1004	-	all_cancers(95;0.000251)		223					D3DS51|O75504	Missense_Mutation	SNP	ENST00000308724.5	37	c.667A>G	CCDS9602.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.758661	0.49468	.	.	ENSG00000213983	ENST00000308724;ENST00000397120;ENST00000545295;ENST00000535852	T;T	0.12984	2.63;2.63	5.62	5.62	0.85841	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.132992	0.64402	D	0.000014	T	0.16557	0.0398	M	0.61703	1.905	0.49213	D	0.999767	B;B	0.29955	0.005;0.263	B;B	0.28385	0.041;0.089	T	0.02774	-1.1112	10	0.27785	T	0.31	-10.4319	13.7677	0.63006	0.0:0.0:0.0:1.0	.	223;78	O75843;Q86V28	AP1G2_HUMAN;.	V	223;223;13;78	ENSP00000312442:I223V;ENSP00000380309:I223V	ENSP00000312442:I223V	I	-	1	0	AP1G2	23104729	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	5.624000	0.67764	2.142000	0.66516	0.533000	0.62120	ATC		0.557	AP1G2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071812.4		NM_003917		13	52	0	0	0	0.00245	0	13	52		
ZFP36L1	677	broad.mit.edu	37	14	69256333	69256333	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:69256333T>G	ENST00000439696.2	-	2	1235	c.934A>C	c.(934-936)Agc>Cgc	p.S312R	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.S312R	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	312	Poly-Ser.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|T cell differentiation in thymus (GO:0033077)|vasculogenesis (GO:0001570)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCACTGTGGCTGCTGCTGGAG	0.597											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xkh.1		NaN																	0				ovary(1)	1						c.(934-936)AGC>CGC		butyrate response factor 1							83.0	88.0	86.0					14																	69256333		2203	4300	6503	SO:0001583	missense	677				regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:69256333T>G	X79066	CCDS9791.1	14q22-q24	2012-11-27	2012-11-27	2001-11-23		ENSG00000185650		"""RING-type (C3HC4) zinc fingers"""	1107	protein-coding gene	gene with protein product		601064	"""zinc finger protein, C3H type, 36-like 1"", ""zinc finger protein 36, C3H type-like 1"""	BRF1		8024689	Standard	NM_004926		Approved	RNF162B, Berg36, ERF1, TIS11B, cMG1	uc021rve.1	Q07352		ENST00000439696.2:c.934A>C	14.37:g.69256333T>G	ENSP00000388402:p.Ser312Arg		OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	ZFP36L1_uc001xki.1_Missense_Mutation_p.S312R	p.S312R	NM_004926	NP_004917	Q07352	TISB_HUMAN		all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	1064	-			312			Poly-Ser.		Q13851	Missense_Mutation	SNP	ENST00000439696.2	37	c.934A>C	CCDS9791.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094010	0.76870	.	.	ENSG00000185650	ENST00000439696;ENST00000336440;ENST00000435246	T;T	0.24350	1.86;1.86	4.66	4.66	0.58398	.	0.108641	0.64402	D	0.000010	T	0.44095	0.1277	M	0.68317	2.08	0.80722	D	1	D	0.61697	0.99	P	0.59357	0.856	T	0.45190	-0.9278	10	0.87932	D	0	-13.3525	12.8249	0.57714	0.0:0.0:0.0:1.0	.	312	Q07352	TISB_HUMAN	R	312;312;295	ENSP00000388402:S312R;ENSP00000337386:S312R	ENSP00000337386:S312R	S	-	1	0	ZFP36L1	68326086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.454000	0.60068	1.954000	0.56735	0.482000	0.46254	AGC		0.597	ZFP36L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413227.1				47	172	0	0	0	0.00361	0	47	172		
DCAF5	8816	broad.mit.edu	37	14	69521082	69521082	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:69521082G>T	ENST00000341516.5	-	9	2468	c.2321C>A	c.(2320-2322)cCt>cAt	p.P774H	DCAF5_ENST00000554215.1_Missense_Mutation_p.P692H|DCAF5_ENST00000557386.1_Missense_Mutation_p.P773H|DCAF5_ENST00000556847.1_Missense_Mutation_p.P692H|DCAF5_ENST00000553293.1_5'Flank	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	774					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						GGTTTCAAAAGGGTGCTCTAC	0.597																																						uc001xkp.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2320-2322)CCT>CAT		WD repeat domain 22							60.0	66.0	64.0					14																	69521082		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69521082G>T	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.2321C>A	14.37:g.69521082G>T	ENSP00000341351:p.Pro774His					DCAF5_uc001xkq.2_Missense_Mutation_p.P773H	p.P774H	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			9	2540	-			774					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.2321C>A	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	G	5.456	0.269142	0.10349	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.66995	-0.24;-0.07;-0.07;0.38	4.81	3.87	0.44632	.	1.150770	0.06410	N	0.720382	T	0.57286	0.2043	N	0.14661	0.345	0.80722	D	1	B;B	0.21753	0.06;0.036	B;B	0.31686	0.134;0.063	T	0.26710	-1.0095	10	0.37606	T	0.19	0.0331	14.5135	0.67804	0.0:0.0:0.8531:0.1469	.	773;774	G3V4J7;Q96JK2	.;DCAF5_HUMAN	H	774;692;692;773	ENSP00000341351:P774H;ENSP00000451551:P692H;ENSP00000452052:P692H;ENSP00000451845:P773H	ENSP00000341351:P774H	P	-	2	0	DCAF5	68590835	0.997000	0.39634	0.996000	0.52242	0.023000	0.10783	2.894000	0.48640	2.489000	0.83994	0.561000	0.74099	CCT		0.597	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2		NM_003861		27	108	1	0	2.47511e-08	0.008361	3.08497e-08	27	108		
SLC8A3	6547	broad.mit.edu	37	14	70512799	70512799	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:70512799C>T	ENST00000381269.2	-	8	3402	c.2649G>A	c.(2647-2649)agG>agA	p.R883R	SLC8A3_ENST00000534137.1_Silent_p.R880R|SLC8A3_ENST00000533541.1_3'UTR|SLC8A3_ENST00000357887.3_Silent_p.R881R|SLC8A3_ENST00000216568.7_Silent_p.R254R|SLC8A3_ENST00000528359.1_Silent_p.R881R|SLC8A3_ENST00000356921.2_Silent_p.R877R|SLC8A3_ENST00000394330.2_Silent_p.R240R	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	883					blood coagulation (GO:0007596)|calcium ion export from cell (GO:1990034)|calcium ion import into cell (GO:1990035)|calcium ion transport into cytosol (GO:0060402)|cell communication (GO:0007154)|cellular response to cAMP (GO:0071320)|hematopoietic progenitor cell differentiation (GO:0002244)|ion transport (GO:0006811)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTGCGGCCGCCTTCGGTACA	0.602											OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001xly.2		NaN																	0				skin(3)|ovary(2)|breast(2)	7						c.(2647-2649)AGG>AGA		solute carrier family 8 (sodium/calcium							35.0	34.0	34.0					14																	70512799		2203	4300	6503	SO:0001819	synonymous_variant	6547				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	g.chr14:70512799C>T	AJ304852	CCDS9799.1, CCDS9800.1, CCDS35498.1, CCDS41967.1, CCDS45131.1, CCDS53904.1	14q24.1	2013-05-22	2008-09-02		ENSG00000100678	ENSG00000100678		"""Solute carriers"""	11070	protein-coding gene	gene with protein product		607991				8798769	Standard	XM_005268017		Approved	NCX3	uc001xly.3	P57103	OTTHUMG00000152342	ENST00000381269.2:c.2649G>A	14.37:g.70512799C>T			OREG0022773	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1122	SLC8A3_uc001xlu.2_Silent_p.R240R|SLC8A3_uc001xlv.2_Silent_p.R254R|SLC8A3_uc001xlw.2_Silent_p.R880R|SLC8A3_uc001xlx.2_Silent_p.R881R|SLC8A3_uc001xlz.2_Silent_p.R877R|SLC8A3_uc010ara.2_RNA|SLC8A3_uc001xma.2_3'UTR	p.R883R	NM_183002	NP_892114	P57103	NAC3_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)	8	3403	-			883			Extracellular (Potential).		Q5K3P6|Q5K3P7|Q8IUE9|Q8IUF0|Q8NFI7|Q96QG1|Q96QG2	Silent	SNP	ENST00000381269.2	37	c.2649G>A	CCDS35498.1																																																																																				0.602	SLC8A3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390736.1				9	35	0	0	0	0.008291	0	9	35		
BATF	10538	broad.mit.edu	37	14	75989032	75989032	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:75989032C>T	ENST00000286639.6	+	1	265	c.7C>T	c.(7-9)Cac>Tac	p.H3Y	BATF_ENST00000555504.1_Missense_Mutation_p.H3Y|BATF_ENST00000555795.1_Intron	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	3					cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|hematopoietic stem cell differentiation (GO:0060218)|isotype switching (GO:0045190)|lymphoid progenitor cell differentiation (GO:0002320)|myeloid dendritic cell differentiation (GO:0043011)|T-helper 17 cell differentiation (GO:0072539)|T-helper 17 cell lineage commitment (GO:0072540)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		AGCCATGCCTCACAGCTCCGA	0.592																																						uc001xrr.2		NaN																	0				ovary(1)	1						c.(7-9)CAC>TAC		basic leucine zipper transcription factor,							81.0	73.0	75.0					14																	75989032		2203	4300	6503	SO:0001583	missense	10538					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:75989032C>T	AF016898	CCDS9843.1	14q24	2013-01-10				ENSG00000156127		"""basic leucine zipper proteins"""	958	protein-coding gene	gene with protein product	"""activating transcription factor B"", ""SF-HT-activated gene 2"""	612476				8570175, 8630063	Standard	NM_006399		Approved	B-ATF, SFA-2, BATF1	uc001xrr.3	Q16520		ENST00000286639.6:c.7C>T	14.37:g.75989032C>T	ENSP00000286639:p.His3Tyr						p.H3Y	NM_006399	NP_006390	Q16520	BATF_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.028)	1	249	+			3						Missense_Mutation	SNP	ENST00000286639.6	37	c.7C>T	CCDS9843.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422813	0.62733	.	.	ENSG00000156127	ENST00000286639;ENST00000555504	T	0.77620	-1.11	4.92	4.92	0.64577	.	0.060827	0.64402	D	0.000002	T	0.66177	0.2763	N	0.22421	0.69	0.53688	D	0.999974	P	0.45126	0.851	B	0.36289	0.221	T	0.73538	-0.3951	10	0.66056	D	0.02	-4.6534	18.6705	0.91508	0.0:1.0:0.0:0.0	.	3	Q16520	BATF_HUMAN	Y	3	ENSP00000286639:H3Y	ENSP00000286639:H3Y	H	+	1	0	BATF	75058785	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.267000	0.72546	2.715000	0.92844	0.655000	0.94253	CAC		0.592	BATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413669.1		NM_006399		23	63	0	0	0	0.002299	0	23	63		
GALC	2581	broad.mit.edu	37	14	88459416	88459416	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:88459416C>T	ENST00000261304.2	-	1	199	c.93G>A	c.(91-93)ttG>ttA	p.L31L	GALC_ENST00000393569.2_Intron|GALC_ENST00000544807.2_5'Flank|GALC_ENST00000393568.4_Silent_p.L31L	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	31					carbohydrate metabolic process (GO:0005975)|galactosylceramide catabolic process (GO:0006683)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	galactosylceramidase activity (GO:0004336)			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACACAGCAGCAAGGGCACCG	0.731																																						uc001xvt.2		NaN																	0					0						c.(91-93)TTG>TTA		galactosylceramidase isoform a precursor							4.0	5.0	4.0					14																	88459416		1479	3335	4814	SO:0001819	synonymous_variant	2581				carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity	g.chr14:88459416C>T	L23116	CCDS9878.2, CCDS55936.1, CCDS55937.1	14q31	2009-01-06	2005-11-29		ENSG00000054983	ENSG00000054983	3.2.1.46		4115	protein-coding gene	gene with protein product	"""Krabbe disease"""	606890	"""galactosylceramidase (Krabbe disease)"""				Standard	NM_000153		Approved		uc001xvt.3	P54803	OTTHUMG00000028646	ENST00000261304.2:c.93G>A	14.37:g.88459416C>T						GALC_uc010tvx.1_Intron|GALC_uc010tvy.1_Silent_p.L31L|GALC_uc010tvz.1_5'Flank|GALC_uc001xvu.1_Silent_p.L31L	p.L31L	NM_000153	NP_000144	P54803	GALC_HUMAN			1	492	-			31					B4DKE8|B4DYN1|B4DZJ8|B7Z7Z2|J3KN25|J3KPP8|Q8J030	Silent	SNP	ENST00000261304.2	37	c.93G>A	CCDS9878.2																																																																																				0.731	GALC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071559.2				4	9	0	0	0	0.000602	0	4	9		
CCDC88C	440193	broad.mit.edu	37	14	91792370	91792370	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:91792370C>T	ENST00000389857.6	-	11	1167	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	361					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				GCCTTGGTTTCAATTAAAATG	0.458																																						uc010aty.2		NaN																	0				ovary(3)	3						c.(1081-1083)GAA>AAA		DVL-binding protein DAPLE							43.0	42.0	42.0					14																	91792370		1954	4152	6106	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91792370C>T		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1081G>A	14.37:g.91792370C>T	ENSP00000374507:p.Glu361Lys						p.E361K	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN			11	1180	-		all_cancers(154;0.0468)	361			Potential.		Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.1081G>A	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	C	36	5.629157	0.96671	.	.	ENSG00000015133	ENST00000389857	T	0.15834	2.39	5.22	5.22	0.72569	.	0.000000	0.48286	U	0.000197	T	0.44435	0.1293	M	0.88906	2.99	0.80722	D	1	P	0.42556	0.783	P	0.52554	0.702	T	0.50792	-0.8786	10	0.59425	D	0.04	-18.3078	18.7817	0.91934	0.0:1.0:0.0:0.0	.	361	Q9P219	DAPLE_HUMAN	K	361	ENSP00000374507:E361K	ENSP00000374507:E361K	E	-	1	0	CCDC88C	90862123	1.000000	0.71417	0.549000	0.28204	0.998000	0.95712	7.335000	0.79234	2.442000	0.82660	0.555000	0.69702	GAA		0.458	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1		XM_029353		8	23	0	0	0	0.004482	0	8	23		
ITPK1	3705	broad.mit.edu	37	14	93412799	93412799	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:93412799C>T	ENST00000267615.6	-	10	951	c.778G>A	c.(778-780)Gag>Aag	p.E260K	ITPK1_ENST00000555495.1_Missense_Mutation_p.E141K|ITPK1_ENST00000556603.2_Missense_Mutation_p.E260K|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.E260K			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	260	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				blood coagulation (GO:0007596)|dephosphorylation (GO:0016311)|inositol phosphate metabolic process (GO:0043647)|inositol trisphosphate metabolic process (GO:0032957)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)|inositol tetrakisphosphate 1-kinase activity (GO:0047325)|inositol-1,3,4,5,6-pentakisphosphate 1-phosphatase activity (GO:0052825)|inositol-1,3,4,6-tetrakisphosphate 1-phosphatase activity (GO:0052831)|inositol-1,3,4,6-tetrakisphosphate 6-phosphatase activity (GO:0052830)|inositol-1,3,4-trisphosphate 5-kinase activity (GO:0052726)|inositol-1,3,4-trisphosphate 6-kinase activity (GO:0052725)|inositol-3,4,6-trisphosphate 1-kinase activity (GO:0052835)|isomerase activity (GO:0016853)|magnesium ion binding (GO:0000287)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CGGATGACCTCGTCGCTCGGC	0.632																																						uc001ybg.2		NaN																	0					0						c.(778-780)GAG>AAG		inositol 1,3,4-triphosphate 5/6 kinase isoform							83.0	75.0	78.0					14																	93412799		2203	4300	6503	SO:0001583	missense	3705				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	g.chr14:93412799C>T	U51336	CCDS9907.1, CCDS45157.1	14q32.12	2012-08-16	2011-04-28		ENSG00000100605	ENSG00000100605	2.7.1.134		6177	protein-coding gene	gene with protein product		601838	"""inositol 1,3,4-triphosphate 5/6 kinase"""			8662638, 11042108	Standard	NM_014216		Approved		uc001ybh.3	Q13572	OTTHUMG00000171226	ENST00000267615.6:c.778G>A	14.37:g.93412799C>T	ENSP00000267615:p.Glu260Lys					ITPK1_uc001ybe.2_Missense_Mutation_p.E260K|ITPK1_uc001ybf.2_Missense_Mutation_p.E141K|ITPK1_uc001ybh.2_Missense_Mutation_p.E260K	p.E260K	NM_014216	NP_055031	Q13572	ITPK1_HUMAN		Epithelial(152;0.124)|all cancers(159;0.169)	10	1067	-		all_cancers(154;0.077)|all_epithelial(191;0.247)	260			ATP-grasp.		Q9BTL6|Q9H2E7	Missense_Mutation	SNP	ENST00000267615.6	37	c.778G>A	CCDS9907.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.189147	0.78789	.	.	ENSG00000100605	ENST00000354313;ENST00000405174;ENST00000556603;ENST00000555495;ENST00000267615;ENST00000311458	T	0.08546	3.08	5.25	5.25	0.73442	ATP-grasp fold (1);ATP-grasp fold, subdomain 2 (1);	0.147171	0.64402	D	0.000014	T	0.12092	0.0294	L	0.47716	1.5	0.80722	D	1	P;P	0.48016	0.904;0.809	P;B	0.44623	0.455;0.136	T	0.19128	-1.0315	10	0.17369	T	0.5	-9.1782	18.8572	0.92257	0.0:1.0:0.0:0.0	.	260;260	Q13572;Q13572-2	ITPK1_HUMAN;.	K	260;290;260;141;260;260	ENSP00000346272:E260K	ENSP00000267615:E260K	E	-	1	0	ITPK1	92482552	0.998000	0.40836	0.742000	0.31022	0.059000	0.15707	5.940000	0.70187	2.456000	0.83038	0.561000	0.74099	GAG		0.632	ITPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412421.2		NM_014216		20	67	0	0	0	0.001882	0	20	67		
DDX24	57062	broad.mit.edu	37	14	94526714	94526714	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:94526714G>C	ENST00000330836.5	-	5	1774	c.1643C>G	c.(1642-1644)cCc>cGc	p.P548R	DDX24_ENST00000544005.1_Missense_Mutation_p.P298R|DDX24_ENST00000555054.1_Missense_Mutation_p.P505R	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	548					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AATGACCTTGGGCTTGCCCCT	0.468																																						uc001ycj.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(1642-1644)CCC>CGC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 24							188.0	170.0	176.0					14																	94526714		2203	4300	6503	SO:0001583	missense	57062				RNA metabolic process	cytoplasm|nucleolus|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr14:94526714G>C	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.1643C>G	14.37:g.94526714G>C	ENSP00000328690:p.Pro548Arg					DDX24_uc010twq.1_Missense_Mutation_p.P505R|DDX24_uc010twr.1_Missense_Mutation_p.P298R	p.P548R	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)	5	1742	-		all_cancers(154;0.12)	548					E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	c.1643C>G	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.458388	0.84317	.	.	ENSG00000089737	ENST00000330836;ENST00000544005;ENST00000440370;ENST00000543787;ENST00000555054;ENST00000542247	T;T;T	0.09255	3.0;3.0;3.0	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.28067	0.0692	M	0.83953	2.67	0.80722	D	1	P	0.42010	0.768	P	0.46452	0.517	T	0.03608	-1.1020	10	0.87932	D	0	-1.5262	19.661	0.95871	0.0:0.0:1.0:0.0	.	548	Q9GZR7	DDX24_HUMAN	R	548;298;493;174;505;505	ENSP00000328690:P548R;ENSP00000440623:P298R;ENSP00000452145:P505R	ENSP00000328690:P548R	P	-	2	0	DDX24	93596467	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.714000	0.92807	0.563000	0.77884	CCC		0.468	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1		NM_020414		52	138	0	0	0	0.00361	0	52	138		
PPP4R4	57718	broad.mit.edu	37	14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:94674875C>T	ENST00000304338.3	+	3	420	c.266C>T	c.(265-267)aCg>aTg	p.T89M	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.T89M(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACTGAGACGCTTCGGAGA	0.388																																						uc001ycs.1		NaN																	1	Substitution - Missense(1)	p.T89M(1)	upper_aerodigestive_tract(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(265-267)ACG>ATG		HEAT-like repeat-containing protein isoform 1							76.0	74.0	75.0					14																	94674875		2203	4300	6503	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94674875C>T	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.266C>T	14.37:g.94674875C>T	ENSP00000305924:p.Thr89Met					PPP4R4_uc001ycr.2_Missense_Mutation_p.T89M	p.T89M	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			3	420	+			89					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.266C>T	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238065	0.79800	.	.	ENSG00000119698	ENST00000556884;ENST00000304338;ENST00000328839;ENST00000553661;ENST00000556470	T;T	0.33865	1.39;1.44	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	M	0.67953	2.075	0.44807	D	0.997817	D;D	0.89917	0.999;1.0	D;D	0.85130	0.967;0.997	T	0.61983	-0.6950	10	0.72032	D	0.01	-13.2975	16.6795	0.85288	0.0:1.0:0.0:0.0	.	89;89	Q6NUP7;Q6NUP7-2	PP4R4_HUMAN;.	M	8;89;89;8;8	ENSP00000305924:T89M;ENSP00000451556:T8M	ENSP00000305924:T89M	T	+	2	0	PPP4R4	93744628	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.231000	0.72307	2.548000	0.85928	0.491000	0.48974	ACG		0.388	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1		NM_058237		16	46	0	0	0	0.00499	0	16	46		
DYNC1H1	1778	broad.mit.edu	37	14	102452341	102452341	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:102452341C>T	ENST00000360184.4	+	8	1943	c.1779C>T	c.(1777-1779)gtC>gtT	p.V593V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	593	Interaction with DYNC1I2. {ECO:0000250}.|Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACTGTTTGTCAGGCCTCACA	0.527																																						uc001yks.2		NaN																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(1777-1779)GTC>GTT		cytoplasmic dynein 1 heavy chain 1							57.0	54.0	55.0					14																	102452341		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102452341C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1779C>T	14.37:g.102452341C>T							p.V593V	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			8	1943	+			593			Interaction with DYNC1I2 (By similarity).|Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.1779C>T	CCDS9966.1																																																																																				0.527	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376		30	55	0	0	0	0.008361	0	30	55		
DYNC1H1	1778	broad.mit.edu	37	14	102493553	102493553	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:102493553T>C	ENST00000360184.4	+	45	8978	c.8814T>C	c.(8812-8814)gtT>gtC	p.V2938V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2938	AAA 4. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGATTGGTGTTAGTGGAGCAG	0.463																																						uc001yks.2		NaN																	0				ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(8812-8814)GTT>GTC		cytoplasmic dynein 1 heavy chain 1							354.0	311.0	326.0					14																	102493553		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102493553T>C	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.8814T>C	14.37:g.102493553T>C							p.V2938V	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			45	8978	+			2938			AAA 4 (By similarity).|ATP (Potential).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.8814T>C	CCDS9966.1																																																																																				0.463	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1		NM_001376		116	313	0	0	0	0.00361	0	116	313		
AHNAK2	113146	broad.mit.edu	37	14	105419725	105419725	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:105419725G>A	ENST00000333244.5	-	7	2182	c.2063C>T	c.(2062-2064)tCa>tTa	p.S688L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	688						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGGGCTGACGCCCCGAA	0.542																																						uc010axc.1		NaN																	0				ovary(1)	1						c.(2062-2064)TCA>TTA		AHNAK nucleoprotein 2							155.0	167.0	163.0					14																	105419725		1925	4132	6057	SO:0001583	missense	113146					nucleus		g.chr14:105419725G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2063C>T	14.37:g.105419725G>A	ENSP00000353114:p.Ser688Leu					AHNAK2_uc001ypx.2_Missense_Mutation_p.S588L	p.S688L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2183	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	688					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2063C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	15.83	2.949531	0.53186	.	.	ENSG00000185567	ENST00000333244	T	0.00730	5.77	2.98	2.98	0.34508	.	.	.	.	.	T	0.03220	0.0094	M	0.90309	3.105	0.09310	N	1	D	0.56968	0.978	P	0.53722	0.733	T	0.31392	-0.9945	9	0.31617	T	0.26	-2.9325	9.9789	0.41802	0.0:0.0:0.7965:0.2035	.	688	Q8IVF2	AHNK2_HUMAN	L	688	ENSP00000353114:S688L	ENSP00000353114:S688L	S	-	2	0	AHNAK2	104490770	0.007000	0.16637	0.003000	0.11579	0.004000	0.04260	1.613000	0.36900	1.211000	0.43351	0.549000	0.68633	TCA		0.542	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420		78	232	0	0	0	0.00361	0	78	232		
NDN	4692	broad.mit.edu	37	15	23931699	23931699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:23931699C>T	ENST00000331837.4	-	1	751	c.666G>A	c.(664-666)tgG>tgA	p.W222*		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	222	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				axon extension (GO:0048675)|axonal fasciculation (GO:0007413)|central nervous system development (GO:0007417)|genetic imprinting (GO:0071514)|glial cell migration (GO:0008347)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|post-embryonic development (GO:0009791)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|respiratory system process (GO:0003016)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGTGCTTCTTCCAGGGCCGCA	0.622									Prader-Willi syndrome																													uc001ywk.2		NaN																	0					0						c.(664-666)TGG>TGA		necdin							33.0	32.0	32.0					15																	23931699		2201	4299	6500	SO:0001587	stop_gained	4692	Prader-Willi_syndrome	Familial Cancer Database	Prader-Labhart-Willi syndrome	negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	g.chr15:23931699C>T	U35139	CCDS10014.1	15q11-q12	2012-12-07	2012-12-07		ENSG00000182636	ENSG00000182636			7675	protein-coding gene	gene with protein product	"""Prader-Willi syndrome chromosome region"""	602117	"""necdin (mouse) homolog"", ""necdin homolog (mouse)"""			9302265	Standard	NM_002487		Approved	HsT16328, PWCR	uc001ywk.3	Q99608	OTTHUMG00000129161	ENST00000331837.4:c.666G>A	15.37:g.23931699C>T	ENSP00000332643:p.Trp222*						p.W222*	NM_002487	NP_002478	Q99608	NECD_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	752	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)	222			MAGE.		B2R6Z5	Nonsense_Mutation	SNP	ENST00000331837.4	37	c.666G>A	CCDS10014.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383585	0.95967	.	.	ENSG00000182636	ENST00000331837	.	.	.	3.22	3.22	0.36961	.	0.282882	0.33235	N	0.005126	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	10.2293	0.43245	0.0:1.0:0.0:0.0	.	.	.	.	X	222	.	ENSP00000332643:W222X	W	-	3	0	NDN	21482792	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.184000	0.50926	2.114000	0.64651	0.561000	0.74099	TGG		0.622	NDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251226.2		NM_002487		17	45	0	0	0	0.004007	0	17	45		
GABRG3	2567	broad.mit.edu	37	15	27765177	27765177	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:27765177A>T	ENST00000333743.6	+	7	1026	c.772A>T	c.(772-774)Att>Ttt	p.I258F	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	258					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATACTTCACCATTCAGACATA	0.353																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1		NaN																	0					0						c.(772-774)ATT>TTT		gamma-aminobutyric acid (GABA) A receptor, gamma							71.0	67.0	68.0					15																	27765177		1853	4095	5948	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27765177A>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.772A>T	15.37:g.27765177A>T	ENSP00000331912:p.Ile258Phe						p.I258F	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	7	938	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	258			Helical; (Probable).		G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.772A>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.413065	0.42817	.	.	ENSG00000182256	ENST00000333743;ENST00000554696	D;D	0.85258	-1.96;-1.96	5.44	5.44	0.79542	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.049447	0.85682	D	0.000000	D	0.83376	0.5241	L	0.60904	1.88	0.80722	D	1	B	0.16396	0.017	B	0.20384	0.029	T	0.80507	-0.1352	10	0.54805	T	0.06	.	14.8339	0.70169	1.0:0.0:0.0:0.0	.	258	Q99928	GBRG3_HUMAN	F	258;200	ENSP00000331912:I258F;ENSP00000451862:I200F	ENSP00000331912:I258F	I	+	1	0	GABRG3	25438772	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	6.997000	0.76270	2.285000	0.76669	0.528000	0.53228	ATT		0.353	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2				6	9	0	0	0	0.001168	0	6	9		
MTMR10	54893	broad.mit.edu	37	15	31239408	31239408	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:31239408C>T	ENST00000435680.1	-	14	1570	c.1473G>A	c.(1471-1473)ttG>ttA	p.L491L	MTMR10_ENST00000314404.8_Silent_p.L243L|MTMR10_ENST00000563714.1_Silent_p.L409L|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	491	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		TGCTGTCATACAACACTGCCA	0.507																																						uc001zfh.1		NaN																	0				ovary(1)	1						c.(1471-1473)TTG>TTA		myotubularin related protein 10							174.0	173.0	174.0					15																	31239408		1929	4163	6092	SO:0001819	synonymous_variant	54893						phosphatase activity	g.chr15:31239408C>T	AK000320	CCDS45204.1	15q13.3	2011-06-09				ENSG00000166912		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	25999	protein-coding gene	gene with protein product						12495846	Standard	NM_017762		Approved	FLJ20313	uc001zfh.1	Q9NXD2		ENST00000435680.1:c.1473G>A	15.37:g.31239408C>T						MTMR10_uc010ubk.1_5'UTR|MTMR10_uc001zfg.1_Silent_p.L72L|MTMR10_uc010azx.1_Silent_p.L243L|MTMR10_uc001zfi.1_Silent_p.L243L|MTMR10_uc001zfj.2_Silent_p.L409L|MTMR10_uc001zfk.2_Silent_p.L243L	p.L491L	NM_017762	NP_060232	Q9NXD2	MTMRA_HUMAN		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)	14	1571	-		all_lung(180;2.81e-11)	491			Myotubularin phosphatase.		Q6P4Q6	Silent	SNP	ENST00000435680.1	37	c.1473G>A	CCDS45204.1																																																																																				0.507	MTMR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430747.1		NM_017762		38	115	0	0	0	0.007835	0	38	115		
AQR	9716	broad.mit.edu	37	15	35212624	35212624	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:35212624A>C	ENST00000156471.5	-	14	1355	c.1130T>G	c.(1129-1131)cTc>cGc	p.L377R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	377					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CACCTGGTGGAGTGTGTTTGA	0.318																																						uc001ziv.2		NaN																	0				large_intestine(1)	1						c.(1129-1131)CTC>CGC		aquarius							71.0	69.0	70.0					15																	35212624		1849	4088	5937	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35212624A>C	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1130T>G	15.37:g.35212624A>C	ENSP00000156471:p.Leu377Arg						p.L377R	NM_014691	NP_055506	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	14	1311	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	377					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1130T>G	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.753942	0.69648	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.95554	-3.74	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.97748	0.9261	H	0.95294	3.65	0.58432	D	0.999999	D	0.57571	0.98	P	0.53861	0.736	D	0.98847	1.0757	10	0.87932	D	0	-13.6908	14.7178	0.69284	1.0:0.0:0.0:0.0	.	377	O60306	AQR_HUMAN	R	377	ENSP00000156471:L377R	ENSP00000156471:L377R	L	-	2	0	AQR	32999916	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	8.694000	0.91293	2.079000	0.62486	0.460000	0.39030	CTC		0.318	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2		NM_014691		9	28	0	0	0	0.000978	0	9	28		
C15orf52	388115	broad.mit.edu	37	15	40627555	40627555	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:40627555A>G	ENST00000559313.1	-	11	1424	c.1409T>C	c.(1408-1410)cTg>cCg	p.L470P	C15orf52_ENST00000397536.2_Missense_Mutation_p.L260P	NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	470							poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		CTGTACTTCCAGCTCAGCCTG	0.662																																						uc001zlh.3		NaN																	0				large_intestine(1)	1						c.(1408-1410)CTG>CCG		hypothetical protein LOC388115							32.0	33.0	33.0					15																	40627555		2203	4297	6500	SO:0001583	missense	388115							g.chr15:40627555A>G	AK124643	CCDS10055.2	15q15.1	2007-06-14			ENSG00000188549	ENSG00000188549			33488	protein-coding gene	gene with protein product							Standard	NM_207380		Approved	FLJ43339	uc001zlh.4	Q6ZUT6	OTTHUMG00000129981	ENST00000559313.1:c.1409T>C	15.37:g.40627555A>G	ENSP00000453969:p.Leu470Pro					C15orf52_uc010ucn.1_Missense_Mutation_p.L260P	p.L470P	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)	11	1425	-		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	470					B9EIQ8|Q68DG9|Q6ZTM3|Q6ZU22	Missense_Mutation	SNP	ENST00000559313.1	37	c.1409T>C	CCDS10055.2	.	.	.	.	.	.	.	.	.	.	A	4.079	0.012482	0.07912	.	.	ENSG00000188549	ENST00000382688;ENST00000397536	.	.	.	5.3	-5.64	0.02466	.	1.035660	0.07699	N	0.940077	T	0.22781	0.0550	N	0.20986	0.625	0.21184	N	0.999767	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.26087	-1.0113	9	0.46703	T	0.11	0.4937	4.7834	0.13213	0.5396:0.0:0.2354:0.225	.	260;470	Q6ZUT6-2;Q6ZUT6	.;CO052_HUMAN	P	470;260	.	ENSP00000372135:L470P	L	-	2	0	C15orf52	38414847	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.969000	0.03813	-0.763000	0.04658	0.460000	0.39030	CTG		0.662	C15orf52-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319567.2		NM_207380		32	67	0	0	0	0.004289	0	32	67		
RMDN3	55177	broad.mit.edu	37	15	41037420	41037420	+	Missense_Mutation	SNP	C	C	T	rs372835028		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:41037420C>T	ENST00000260385.6	-	4	1629	c.562G>A	c.(562-564)Gac>Aac	p.D188N	RMDN3_ENST00000338376.3_Missense_Mutation_p.D188N|RMDN3_ENST00000558560.1_5'UTR			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	188					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TTGTCAGAGTCCCGCTCATTG	0.498																																						uc001zmo.1		NaN																	0					0						c.(562-564)GAC>AAC		family with sequence similarity 82, member A2		C	ASN/ASP	0,4406		0,0,2203	170.0	138.0	149.0		562	5.9	1.0	15		149	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAM82A2	NM_018145.1	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	188/471	41037420	1,13005	2203	4300	6503	SO:0001583	missense	55177				apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding	g.chr15:41037420C>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.562G>A	15.37:g.41037420C>T	ENSP00000260385:p.Asp188Asn					FAM82A2_uc001zmp.1_Missense_Mutation_p.D188N|FAM82A2_uc001zmq.1_Missense_Mutation_p.D188N	p.D188N	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN			5	706	-			188					A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.562G>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	32	5.134244	0.94517	0.0	1.16E-4	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.32988	1.43;1.43	5.93	5.93	0.95920	.	0.305128	0.39615	N	0.001312	T	0.35219	0.0924	L	0.47716	1.5	0.44181	D	0.996993	P	0.42692	0.787	B	0.41988	0.372	T	0.03597	-1.1021	10	0.48119	T	0.1	-11.0524	19.936	0.97142	0.0:1.0:0.0:0.0	.	188	Q96TC7	RMD3_HUMAN	N	188;188;125	ENSP00000260385:D188N;ENSP00000342493:D188N	ENSP00000260385:D188N	D	-	1	0	FAM82A2	38824712	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.321000	0.72881	2.814000	0.96858	0.655000	0.94253	GAC		0.498	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1		NM_018145		85	106	0	0	0	0.00361	0	85	106		
INO80	54617	broad.mit.edu	37	15	41280022	41280022	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:41280022T>G	ENST00000361937.3	-	30	4145	c.3721A>C	c.(3721-3723)Aag>Cag	p.K1241Q	INO80_ENST00000401393.3_Missense_Mutation_p.K1241Q|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1241	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACCTCACTCTTCTCCTTGGCT	0.468																																						uc001zni.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(3721-3723)AAG>CAG		INO80 complex homolog 1							377.0	341.0	353.0					15																	41280022		2203	4300	6503	SO:0001583	missense	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41280022T>G	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3721A>C	15.37:g.41280022T>G	ENSP00000355205:p.Lys1241Gln					INO80_uc010ucu.1_RNA	p.K1241Q	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			30	3934	-			1241			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.		A6H8X4|Q9NTG6	Missense_Mutation	SNP	ENST00000361937.3	37	c.3721A>C	CCDS10071.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.869744	0.91587	.	.	ENSG00000128908	ENST00000263793;ENST00000361937;ENST00000401393	D;D	0.83673	-1.75;-1.75	5.23	5.23	0.72850	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.94152	0.8124	H	0.97983	4.12	0.80722	D	1	D	0.64830	0.994	D	0.65573	0.936	D	0.96225	0.9163	10	0.87932	D	0	.	15.2968	0.73916	0.0:0.0:0.0:1.0	.	1241	Q9ULG1	INO80_HUMAN	Q	35;1241;1241	ENSP00000355205:K1241Q;ENSP00000384686:K1241Q	ENSP00000263793:K35Q	K	-	1	0	INO80	39067314	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.787000	0.85759	2.200000	0.70718	0.377000	0.23210	AAG		0.468	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		105	346	0	0	0	0.00361	0	105	346		
INO80	54617	broad.mit.edu	37	15	41280032	41280032	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:41280032T>C	ENST00000361937.3	-	30	4135	c.3711A>G	c.(3709-3711)agA>agG	p.R1237R	INO80_ENST00000401393.3_Silent_p.R1237R|INO80_ENST00000561244.1_5'UTR			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1237	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TCTCCTTGGCTCTTTGCAGAA	0.478																																						uc001zni.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(3709-3711)AGA>AGG		INO80 complex homolog 1							368.0	332.0	344.0					15																	41280032		2203	4300	6503	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41280032T>C	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.3711A>G	15.37:g.41280032T>C						INO80_uc010ucu.1_RNA	p.R1237R	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN			30	3924	-			1237			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.3711A>G	CCDS10071.1																																																																																				0.478	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2		NM_017553		103	330	0	0	0	0.00361	0	103	330		
SPTBN5	51332	broad.mit.edu	37	15	42168429	42168429	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:42168429C>T	ENST00000320955.6	-	21	4232	c.4005G>A	c.(4003-4005)ctG>ctA	p.L1335L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1335					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCGCAGCCATCAGCCCCTTCT	0.627																																						uc001zos.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3898-3900)CTG>CTA		spectrin, beta, non-erythrocytic 5							36.0	39.0	38.0					15																	42168429		2138	4255	6393	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42168429C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4005G>A	15.37:g.42168429C>T							p.L1300L	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	21	4233	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1335			Spectrin 10.			Silent	SNP	ENST00000320955.6	37	c.3900G>A																																																																																					0.627	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1		NM_016642		11	25	0	0	0	0.000978	0	11	25		
SPTBN5	51332	broad.mit.edu	37	15	42170747	42170747	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:42170747T>A	ENST00000320955.6	-	17	3490	c.3263A>T	c.(3262-3264)cAg>cTg	p.Q1088L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1088					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACTTGTTCCTGTACTTGCTT	0.642																																						uc001zos.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(3157-3159)CAG>CTG		spectrin, beta, non-erythrocytic 5							23.0	26.0	25.0					15																	42170747		2006	4153	6159	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42170747T>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.3263A>T	15.37:g.42170747T>A	ENSP00000317790:p.Gln1088Leu						p.Q1053L	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	17	3491	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1088						Missense_Mutation	SNP	ENST00000320955.6	37	c.3158A>T		.	.	.	.	.	.	.	.	.	.	.	13.00	2.107791	0.37242	.	.	ENSG00000137877	ENST00000320955	T	0.33654	1.4	4.32	1.96	0.26148	.	0.533866	0.17358	N	0.177175	T	0.26268	0.0641	L	0.56769	1.78	0.09310	N	1	P	0.38922	0.651	B	0.30401	0.115	T	0.21109	-1.0255	10	0.59425	D	0.04	.	4.1511	0.10238	0.1509:0.1791:0.0:0.6701	.	1088	Q9NRC6	SPTN5_HUMAN	L	1088	ENSP00000317790:Q1088L	ENSP00000317790:Q1088L	Q	-	2	0	SPTBN5	39958039	0.519000	0.26242	0.003000	0.11579	0.082000	0.17680	1.249000	0.32839	0.170000	0.19704	0.379000	0.24179	CAG		0.642	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1		NM_016642		10	33	0	0	0	0.008291	0	10	33		
TGM5	9333	broad.mit.edu	37	15	43531079	43531079	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:43531079G>A	ENST00000220420.5	-	9	1288	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	TGM5_ENST00000349114.4_Silent_p.I345I	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	427					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	TCTTTGTGCTGATAAAATTGC	0.507																																						uc001zrd.1		NaN																	0				central_nervous_system(1)	1						c.(1279-1281)ATC>ATT		transglutaminase 5 isoform 1	L-Glutamine(DB00130)						189.0	153.0	165.0					15																	43531079		2202	4299	6501	SO:0001819	synonymous_variant	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43531079G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1281C>T	15.37:g.43531079G>A						TGM5_uc001zrc.1_Silent_p.I84I|TGM5_uc001zre.1_Silent_p.I345I	p.I427I	NM_201631	NP_963925	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	9	1289	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	427					O43549|Q0VF40|Q9UEZ4	Silent	SNP	ENST00000220420.5	37	c.1281C>T	CCDS32212.1																																																																																				0.507	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1		NM_004245		17	33	0	0	0	0.00499	0	17	33		
SLC12A1	6557	broad.mit.edu	37	15	48559784	48559784	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:48559784G>T	ENST00000558405.1	+	17	2195	c.2181G>T	c.(2179-2181)gaG>gaT	p.E727D	SLC12A1_ENST00000380993.3_Missense_Mutation_p.E727D|SLC12A1_ENST00000396577.3_Missense_Mutation_p.E727D			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	727					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGTTAAGGAGATGAACAGTG	0.433																																						uc001zwn.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(2179-2181)GAG>GAT		sodium potassium chloride cotransporter 2	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						99.0	96.0	97.0					15																	48559784		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48559784G>T		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2181G>T	15.37:g.48559784G>T	ENSP00000453409:p.Glu727Asp					SLC12A1_uc010uew.1_Missense_Mutation_p.E533D|SLC12A1_uc010bem.2_Missense_Mutation_p.E727D|SLC12A1_uc001zwq.3_Missense_Mutation_p.E498D|SLC12A1_uc001zwr.3_Missense_Mutation_p.E454D	p.E727D	NM_000338	NP_000329	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	18	2397	+		all_lung(180;0.00219)	727					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.2181G>T	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	G	16.61	3.170131	0.57584	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577;ENST00000546071	D;D	0.92647	-3.08;-3.08	6.02	6.02	0.97574	.	0.047328	0.85682	D	0.000000	D	0.88340	0.6410	L	0.38733	1.17	0.53688	D	0.99997	B;B	0.32128	0.357;0.092	B;B	0.34038	0.174;0.082	D	0.86355	0.1713	10	0.48119	T	0.1	.	13.7	0.62602	0.07:0.0:0.93:0.0	.	727;727	E9PDW4;Q13621	.;S12A1_HUMAN	D	540;727;727;121	ENSP00000370381:E727D;ENSP00000379822:E727D	ENSP00000370381:E727D	E	+	3	2	SLC12A1	46347076	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.575000	0.60908	2.865000	0.98341	0.655000	0.94253	GAG		0.433	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1				26	64	1	0	6.12954e-19	0.004656	8.07937e-19	26	64		
APH1B	83464	broad.mit.edu	37	15	63579740	63579740	+	Missense_Mutation	SNP	A	A	G	rs201964174		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:63579740A>G	ENST00000261879.5	+	4	543	c.473A>G	c.(472-474)tAt>tGt	p.Y158C	APH1B_ENST00000380343.4_Intron	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	158					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						TTCTTCCTTTATTCAGGTATG	0.423																																						uc002ama.2		NaN																	0					0						c.(472-474)TAT>TGT		presenilin stabilization factor-like isoform 1							228.0	221.0	224.0					15																	63579740		2203	4300	6503	SO:0001583	missense	83464				apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	integral to membrane|plasma membrane|transport vesicle	peptidase activity|protein binding	g.chr15:63579740A>G	AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.473A>G	15.37:g.63579740A>G	ENSP00000261879:p.Tyr158Cys					APH1B_uc002amb.2_Intron|APH1B_uc010bgq.2_Missense_Mutation_p.Y104C|APH1B_uc010bgr.2_Missense_Mutation_p.Y104C	p.Y158C	NM_031301	NP_112591	Q8WW43	APH1B_HUMAN			4	547	+			158			Helical; Name=5; (Potential).		A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	ENST00000261879.5	37	c.473A>G	CCDS10184.1	.	.	.	.	.	.	.	.	.	.	A	12.92	2.082864	0.36758	.	.	ENSG00000138613	ENST00000261879	T	0.40756	1.02	5.38	1.75	0.24633	.	0.524057	0.18940	N	0.126949	T	0.30293	0.0760	N	0.22421	0.69	0.23616	N	0.997285	P	0.41784	0.762	P	0.48488	0.579	T	0.07462	-1.0771	10	0.34782	T	0.22	0.2836	2.123	0.03731	0.4724:0.3013:0.0957:0.1307	.	158	Q8WW43	APH1B_HUMAN	C	158	ENSP00000261879:Y158C	ENSP00000261879:Y158C	Y	+	2	0	APH1B	61366793	0.922000	0.31269	0.030000	0.17652	0.592000	0.36648	4.969000	0.63735	0.329000	0.23460	0.460000	0.39030	TAT		0.423	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256337.1		NM_031301		85	188	0	0	0	0.00361	0	85	188		
CSNK1G1	53944	broad.mit.edu	37	15	64592686	64592686	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:64592686T>C	ENST00000303052.7	-	2	436	c.13A>G	c.(13-15)Agt>Ggt	p.S5G	CTD-2116N17.1_ENST00000558783.1_5'Flank|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.S5G|CSNK1G1_ENST00000607537.1_Missense_Mutation_p.S5G|CTD-2116N17.1_ENST00000606793.1_5'UTR	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	5					Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTTTCCCTACTAGGATGGTCC	0.448																																						uc002anf.2		NaN																	0					0						c.(13-15)AGT>GGT		casein kinase 1, gamma 1							311.0	264.0	280.0					15																	64592686		2203	4300	6503	SO:0001583	missense	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64592686T>C	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.13A>G	15.37:g.64592686T>C	ENSP00000305777:p.Ser5Gly					CSNK1G1_uc002ane.2_RNA|CSNK1G1_uc002ang.1_Missense_Mutation_p.S5G|CSNK1G1_uc002anh.1_Missense_Mutation_p.S5G|CSNK1G1_uc002anj.2_5'UTR|CSNK1G1_uc010uip.1_RNA	p.S5G	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN			2	493	-			5					Q5JPH1|Q96AE9|Q9HCP1	Missense_Mutation	SNP	ENST00000303052.7	37	c.13A>G	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	T	15.04	2.714610	0.48622	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	T;T	0.69685	-0.35;-0.42	5.73	3.46	0.39613	.	0.287172	0.43919	N	0.000516	T	0.43787	0.1263	N	0.08118	0	0.21652	N	0.9996	B;B;B	0.15473	0.0;0.013;0.0	B;B;B	0.09377	0.0;0.004;0.0	T	0.36841	-0.9731	10	0.59425	D	0.04	.	8.7638	0.34692	0.0:0.2124:0.0:0.7876	.	5;5;5	Q9HCP0-2;Q8IXA3;Q9HCP0	.;.;KC1G1_HUMAN	G	5	ENSP00000305777:S5G;ENSP00000307753:S5G	ENSP00000307753:S5G	S	-	1	0	CSNK1G1	62379739	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.533000	0.60615	0.460000	0.27045	0.528000	0.53228	AGT		0.448	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1		NM_022048		51	148	0	0	0	0.00361	0	51	148		
HCN4	10021	broad.mit.edu	37	15	73616530	73616530	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:73616530G>T	ENST00000261917.3	-	7	3036	c.2043C>A	c.(2041-2043)ctC>ctA	p.L681L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	681					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TCAGCGAGTAGAGGCGGCAGT	0.642																																						uc002avp.2		NaN																	0				ovary(5)|liver(1)	6						c.(2041-2043)CTC>CTA		hyperpolarization activated cyclic							84.0	70.0	74.0					15																	73616530		2198	4297	6495	SO:0001819	synonymous_variant	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73616530G>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2043C>A	15.37:g.73616530G>T							p.L681L	NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	7	3037	-			681			Cytoplasmic (Potential).|cAMP.		Q9UMQ7	Silent	SNP	ENST00000261917.3	37	c.2043C>A	CCDS10248.1																																																																																				0.642	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2		NM_005477		27	65	1	0	1.77063e-15	0.005443	2.29123e-15	27	65		
FBXO22	26263	broad.mit.edu	37	15	76222340	76222340	+	Silent	SNP	C	C	T	rs143480986		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:76222340C>T	ENST00000308275.3	+	6	849	c.744C>T	c.(742-744)atC>atT	p.I248I	FBXO22_ENST00000453211.2_Silent_p.I248I|FBXO22_ENST00000540507.1_Silent_p.I144I	NM_147188.2	NP_671717.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	248					cellular protein modification process (GO:0006464)|cellular response to starvation (GO:0009267)|nucleocytoplasmic transport (GO:0006913)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein polyubiquitination (GO:0000209)|regulation of skeletal muscle fiber development (GO:0048742)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATATGAATATCATCTTGGCTG	0.438																																						uc002bbk.2		NaN																	0					0						c.(742-744)ATC>ATT		F-box only protein 22 isoform a		C	,	1,4393	2.1+/-5.4	0,1,2196	180.0	162.0	168.0		744,744	4.7	1.0	15	dbSNP_134	168	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous	FBXO22	NM_012170.3,NM_147188.2	,	0,1,6490	TT,TC,CC		0.0,0.0228,0.0077	,	248/277,248/404	76222340	1,12981	2197	4294	6491	SO:0001819	synonymous_variant	26263				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity	g.chr15:76222340C>T	AF174602	CCDS10287.1, CCDS45310.1	15q23	2008-10-03	2004-06-15		ENSG00000167196	ENSG00000167196		"""F-boxes /  ""other"""""	13593	protein-coding gene	gene with protein product	"""FIST domain containing 1"""	609096	"""F-box only protein 22"""			10531035, 10531037, 17855421	Standard	NM_147188		Approved	FBX22, FISTC1	uc002bbk.3	Q8NEZ5	OTTHUMG00000142841	ENST00000308275.3:c.744C>T	15.37:g.76222340C>T						FBXO22_uc002bbj.1_Silent_p.I248I|FBXO22_uc002bbl.2_Silent_p.I144I	p.I248I	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN			6	849	+			248					Q0D2P8|Q6PIL5|Q8IXW3|Q9H824|Q9UKC0	Silent	SNP	ENST00000308275.3	37	c.744C>T	CCDS10287.1																																																																																				0.438	FBXO22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286477.2		NM_147188		34	97	0	0	0	0.002836	0	34	97		
IREB2	3658	broad.mit.edu	37	15	78758655	78758655	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:78758655G>A	ENST00000258886.8	+	5	602	c.453G>A	c.(451-453)caG>caA	p.Q151Q	IREB2_ENST00000559427.1_3'UTR|IREB2_ENST00000560440.1_Silent_p.Q151Q	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	151					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GTGACCTGCAGAAAGCAGGAA	0.458																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2		NaN																	0					0						c.(451-453)CAG>CAA		iron-responsive element binding protein 2							61.0	59.0	60.0					15																	78758655		2196	4293	6489	SO:0001819	synonymous_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78758655G>A	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.453G>A	15.37:g.78758655G>A						IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.2_Silent_p.Q151Q	p.Q151Q	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	5	615	+			151					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	ENST00000258886.8	37	c.453G>A	CCDS10302.1																																																																																				0.458	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3		NM_004136		21	35	0	0	0	0.001523	0	21	35		
ADAMTS7	11173	broad.mit.edu	37	15	79090340	79090340	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:79090340C>G	ENST00000388820.4	-	3	782	c.572G>C	c.(571-573)aGg>aCg	p.R191T	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	191					cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTGTGCCAGCCTCTCCGGGGC	0.647																																						uc002bej.3		NaN																	0					0						c.(571-573)AGG>ACG		ADAM metallopeptidase with thrombospondin type 1							58.0	59.0	59.0					15																	79090340		2196	4293	6489	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79090340C>G	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.572G>C	15.37:g.79090340C>G	ENSP00000373472:p.Arg191Thr					ADAMTS7_uc010und.1_Missense_Mutation_p.R191T|ADAMTS7_uc002bek.1_Missense_Mutation_p.R191T	p.R191T	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			3	783	-			191					Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.572G>C	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526535	0.27299	.	.	ENSG00000136378	ENST00000388820;ENST00000456326	T	0.60424	0.19	4.17	-0.991	0.10235	.	1.615790	0.03538	N	0.223404	T	0.40040	0.1101	L	0.38175	1.15	0.09310	N	1	P;B;P	0.40000	0.698;0.016;0.488	B;B;B	0.27380	0.079;0.011;0.048	T	0.27123	-1.0083	10	0.17832	T	0.49	.	8.5022	0.33165	0.0:0.3911:0.0:0.6089	.	191;191;191	E7EP58;A8MQ00;Q9UKP4	.;.;ATS7_HUMAN	T	191	ENSP00000373472:R191T	ENSP00000373472:R191T	R	-	2	0	ADAMTS7	76877395	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.219000	0.09228	-0.012000	0.14223	0.313000	0.20887	AGG		0.647	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1		NM_014272		29	108	0	0	0	0.001786	0	29	108		
ADAMTSL3	57188	broad.mit.edu	37	15	84651522	84651522	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:84651522G>A	ENST00000286744.5	+	21	3366	c.3142G>A	c.(3142-3144)Gac>Aac	p.D1048N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1048N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1048						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTGGATGATGACCACATTAG	0.448																																						uc002bjz.3		NaN																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(3142-3144)GAC>AAC		ADAMTS-like 3 precursor							77.0	78.0	77.0					15																	84651522		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651522G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3142G>A	15.37:g.84651522G>A	ENSP00000286744:p.Asp1048Asn					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1048N|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.D1048N	p.D1048N	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3366	+			1048					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3142G>A	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	0.479	-0.880800	0.02530	.	.	ENSG00000156218	ENST00000286744	T	0.64085	-0.08	5.26	4.35	0.52113	.	0.574232	0.14598	N	0.309806	T	0.38772	0.1053	N	0.08118	0	0.09310	N	1	B;B	0.23249	0.082;0.057	B;B	0.29598	0.104;0.014	T	0.29518	-1.0009	10	0.10377	T	0.69	.	8.2792	0.31889	0.2519:0.0:0.7481:0.0	.	1048;1048	P82987-2;P82987	.;ATL3_HUMAN	N	1048	ENSP00000286744:D1048N	ENSP00000286744:D1048N	D	+	1	0	ADAMTSL3	82442526	0.968000	0.33430	0.002000	0.10522	0.002000	0.02628	2.045000	0.41250	1.215000	0.43411	0.563000	0.77884	GAC		0.448	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2		NM_207517		23	77	0	0	0	0.003954	0	23	77		
ALPK3	57538	broad.mit.edu	37	15	85401501	85401501	+	Missense_Mutation	SNP	G	G	A	rs377179290		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:85401501G>A	ENST00000258888.5	+	6	4305	c.4138G>A	c.(4138-4140)Ggg>Agg	p.G1380R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1380					heart development (GO:0007507)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCAGGAGACGGGGAGGCAAC	0.652													g|||	1	0.000199681	0.0	0.0	5008	,	,		15259	0.0		0.001	False		,,,				2504	0.0					uc002ble.2		NaN																	0				stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1)	12						c.(4138-4140)GGG>AGG		alpha-kinase 3			ARG/GLY	0,4394		0,0,2197	20.0	25.0	23.0		4138	4.5	0.0	15		23	3,8585		0,3,4291	no	missense	ALPK3	NM_020778.4	125	0,3,6488	AA,AG,GG		0.0349,0.0,0.0231	probably-damaging	1380/1908	85401501	3,12979	2197	4294	6491	SO:0001583	missense	57538				heart development	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr15:85401501G>A	AY044449	CCDS10333.1	15q25.2	2013-01-29			ENSG00000136383	ENSG00000136383		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17574	protein-coding gene	gene with protein product	"""myocyte induction differentiation originator"", ""muscle alpha-kinase"""					10021370	Standard	NM_020778		Approved	MAK, KIAA1330, Midori	uc002ble.3	Q96L96	OTTHUMG00000148667	ENST00000258888.5:c.4138G>A	15.37:g.85401501G>A	ENSP00000258888:p.Gly1380Arg						p.G1380R	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0587)		6	4305	+			1380					Q9P2L6	Missense_Mutation	SNP	ENST00000258888.5	37	c.4138G>A	CCDS10333.1	.	.	.	.	.	.	.	.	.	.	g	15.00	2.703760	0.48412	0.0	3.49E-4	ENSG00000136383	ENST00000258888	T	0.61859	0.07	5.38	4.47	0.54385	.	0.524013	0.19061	N	0.123774	T	0.70150	0.3191	M	0.67953	2.075	0.23524	N	0.997492	D	0.89917	1.0	D	0.69142	0.962	T	0.60632	-0.7225	10	0.44086	T	0.13	-15.6615	9.9223	0.41472	0.0931:0.0:0.9069:0.0	.	1380	Q96L96	ALPK3_HUMAN	R	1380	ENSP00000258888:G1380R	ENSP00000258888:G1380R	G	+	1	0	ALPK3	83202505	0.762000	0.28451	0.010000	0.14722	0.300000	0.27592	1.022000	0.30052	1.276000	0.44395	0.651000	0.88453	GGG		0.652	ALPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308997.1		NM_020778		4	11	0	0	0	0.000248	0	4	11		
AKAP13	11214	broad.mit.edu	37	15	86123759	86123759	+	Silent	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:86123759A>T	ENST00000394518.2	+	7	2555	c.2460A>T	c.(2458-2460)acA>acT	p.T820T	RP11-815J21.2_ENST00000561409.1_RNA|AKAP13_ENST00000361243.2_Silent_p.T820T	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	820					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AACTACATACAGCTACAGATT	0.498																																					Melanoma(94;603 1453 3280 32295 32951)	uc002blv.1		NaN																	0				central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1)	9						c.(2458-2460)ACA>ACT		A-kinase anchor protein 13 isoform 2							121.0	128.0	126.0					15																	86123759		2202	4299	6501	SO:0001819	synonymous_variant	11214				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|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86123759A>T	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.2460A>T	15.37:g.86123759A>T						AKAP13_uc002blt.1_Silent_p.T820T|AKAP13_uc002blu.1_Silent_p.T820T|AKAP13_uc010bne.1_5'Flank	p.T820T	NM_007200	NP_009131	Q12802	AKP13_HUMAN			7	2630	+			820					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Silent	SNP	ENST00000394518.2	37	c.2460A>T	CCDS32319.1																																																																																				0.498	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1		NM_007200		76	184	0	0	0	0.00361	0	76	184		
WDR93	56964	broad.mit.edu	37	15	90245001	90245001	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:90245001G>C	ENST00000268130.7	+	2	125	c.24G>C	c.(22-24)caG>caC	p.Q8H	RP11-300G22.2_ENST00000557964.1_RNA|WDR93_ENST00000558000.1_Missense_Mutation_p.Q8H|WDR93_ENST00000560294.1_Missense_Mutation_p.Q8H	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	8					electron transport chain (GO:0022900)		oxidoreductase activity, acting on NAD(P)H (GO:0016651)			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GAGGAAGTCAGACCCAGAAAA	0.463																																						uc002boj.2		NaN																	0				ovary(2)	2						c.(22-24)CAG>CAC		WD repeat domain 93							109.0	110.0	109.0					15																	90245001		2200	4299	6499	SO:0001583	missense	56964				electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	g.chr15:90245001G>C		CCDS32326.1, CCDS66862.1, CCDS73779.1	15q26.1	2012-11-02						"""WD repeat domain containing"""	26924	protein-coding gene	gene with protein product							Standard	NM_020212		Approved		uc002boj.3	Q6P2C0		ENST00000268130.7:c.24G>C	15.37:g.90245001G>C	ENSP00000268130:p.Gln8His					WDR93_uc002bok.3_Missense_Mutation_p.Q8H|WDR93_uc010bnr.2_Missense_Mutation_p.Q8H	p.Q8H	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)		2	125	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		8					Q8N7Y8|Q9NP89	Missense_Mutation	SNP	ENST00000268130.7	37	c.24G>C	CCDS32326.1	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408394	0.42715	.	.	ENSG00000140527	ENST00000268130	T	0.24908	1.83	5.46	-1.76	0.08006	.	2.247170	0.01604	N	0.022184	T	0.23766	0.0575	L	0.34521	1.04	0.09310	N	1	P;P;P	0.48503	0.799;0.799;0.911	P;P;P	0.48141	0.465;0.568;0.562	T	0.11817	-1.0572	10	0.62326	D	0.03	0.032	1.2787	0.02036	0.4148:0.1433:0.2965:0.1454	.	8;8;8	Q6P2C0-2;B4E3E2;Q6P2C0	.;.;WDR93_HUMAN	H	8	ENSP00000268130:Q8H	ENSP00000268130:Q8H	Q	+	3	2	WDR93	88046005	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.077000	0.14738	-0.322000	0.08615	-1.185000	0.01705	CAG		0.463	WDR93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416369.1		NM_020212		47	136	0	0	0	0.00361	0	47	136		
CRTC3	64784	broad.mit.edu	37	15	91172733	91172733	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:91172733C>A	ENST00000268184.6	+	11	1239	c.1235C>A	c.(1234-1236)aCc>aAc	p.T412N	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Missense_Mutation_p.T412N			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	412					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CTGTCTTCAACCAGCCCACTG	0.567			T	MAML2	salivary gland mucoepidermoid																																	uc002bpp.2		NaN		Dom	yes		15	15q26.1	64784	T	CREB regulated transcription coactivator 3			E	MAML2		salivary gland mucoepidermoid	CRTC3/MAML2(26)	0				salivary_gland(26)|ovary(1)	27						c.(1234-1236)ACC>AAC		transducer of regulated CREB protein 3 isoform							70.0	69.0	70.0					15																	91172733		2198	4298	6496	SO:0001583	missense	64784				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr15:91172733C>A		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1235C>A	15.37:g.91172733C>A	ENSP00000268184:p.Thr412Asn					CRTC3_uc002bpo.2_Missense_Mutation_p.T412N	p.T412N	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)		11	1341	+	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		412					Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Missense_Mutation	SNP	ENST00000268184.6	37	c.1235C>A	CCDS32331.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298324	0.23650	.	.	ENSG00000140577	ENST00000437186;ENST00000268184;ENST00000420329	T;T	0.13538	2.58;2.58	5.18	2.12	0.27331	.	0.429830	0.25631	N	0.029358	T	0.20700	0.0498	M	0.68593	2.085	0.48185	D	0.999606	P;P	0.40515	0.597;0.719	B;B	0.44085	0.255;0.44	T	0.02275	-1.1184	10	0.40728	T	0.16	-11.4141	14.2005	0.65699	0.0:0.5676:0.4324:0.0	.	412;412	Q6UUV7;Q6UUV7-3	CRTC3_HUMAN;.	N	376;412;412	ENSP00000268184:T412N;ENSP00000416573:T412N	ENSP00000268184:T412N	T	+	2	0	CRTC3	88973737	1.000000	0.71417	0.696000	0.30242	0.066000	0.16364	3.031000	0.49728	0.289000	0.22422	-0.165000	0.13383	ACC		0.567	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2		NM_022769		44	116	1	0	9.42957e-07	0.007835	1.16228e-06	44	116		
IGF1R	3480	broad.mit.edu	37	15	99459919	99459919	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:99459919A>C	ENST00000268035.6	+	10	2626	c.2015A>C	c.(2014-2016)aAg>aCg	p.K672T	IGF1R_ENST00000558762.1_Missense_Mutation_p.K672T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	672	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CCCATCAGGAAGTATGCCGAC	0.488																																						uc002bul.2		NaN																	0				lung(3)|kidney(3)|ovary(1)|central_nervous_system(1)	8						c.(2014-2016)AAG>ACG		insulin-like growth factor 1 receptor precursor	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)						60.0	63.0	62.0					15																	99459919		2197	4297	6494	SO:0001583	missense	3480				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding	g.chr15:99459919A>C	M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2015A>C	15.37:g.99459919A>C	ENSP00000268035:p.Lys672Thr					IGF1R_uc010urq.1_Missense_Mutation_p.K672T|IGF1R_uc010bon.2_Missense_Mutation_p.K672T|IGF1R_uc010urr.1_Missense_Mutation_p.K122T	p.K672T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		10	2065	+	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		672			Fibronectin type-III 2.		B1B5Y2|Q14CV2|Q9UCC0	Missense_Mutation	SNP	ENST00000268035.6	37	c.2015A>C	CCDS10378.1	.	.	.	.	.	.	.	.	.	.	A	6.972	0.549335	0.13374	.	.	ENSG00000140443	ENST00000268035	T	0.67523	-0.27	5.07	5.07	0.68467	Fibronectin, type III (3);	0.094876	0.44097	D	0.000491	T	0.44030	0.1274	N	0.20401	0.57	0.39812	D	0.97272	B;B	0.28820	0.224;0.0	B;B	0.21546	0.035;0.003	T	0.40213	-0.9575	10	0.12430	T	0.62	.	7.5205	0.27624	0.8745:0.0:0.1255:0.0	.	672;672	C9J5X1;P08069	.;IGF1R_HUMAN	T	672	ENSP00000268035:K672T	ENSP00000268035:K672T	K	+	2	0	IGF1R	97277442	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.404000	0.52623	2.125000	0.65367	0.533000	0.62120	AAG		0.488	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313537.2		NM_000875		19	47	0	0	0	0.001523	0	19	47		
ADAMTS17	170691	broad.mit.edu	37	15	100821443	100821443	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:100821443G>A	ENST00000268070.4	-	4	885	c.780C>T	c.(778-780)gtC>gtT	p.V260V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	260	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCATGTTCATGACGGTCAGGA	0.622																																						uc002bvv.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(778-780)GTC>GTT		ADAM metallopeptidase with thrombospondin type 1							68.0	76.0	74.0					15																	100821443		2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100821443G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.780C>T	15.37:g.100821443G>A						ADAMTS17_uc002bvx.1_Silent_p.V17V	p.V260V	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	4	859	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		260			Peptidase M12B.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.780C>T	CCDS10383.1																																																																																				0.622	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1		NM_139057		31	119	0	0	0	0.002096	0	31	119		
PCSK6	5046	broad.mit.edu	37	15	101906500	101906500	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:101906500C>T	ENST00000348070.1	-	14	1755	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.E586K|PCSK6_ENST00000331826.7_Missense_Mutation_p.E421K|PCSK6_ENST00000344273.2_Missense_Mutation_p.E586K|PCSK6_ENST00000358417.3_Missense_Mutation_p.E586K	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	587					determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTCATGAATTCCCAGTTTGTA	0.542																																						uc002bwy.2		NaN																	0				pancreas(2)	2						c.(1759-1761)GAA>AAA		paired basic amino acid cleaving system 4							82.0	80.0	80.0					15																	101906500		1910	4125	6035	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101906500C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1756G>A	15.37:g.101906500C>T	ENSP00000305056:p.Glu586Lys					PCSK6_uc010bpd.2_Missense_Mutation_p.E383K|PCSK6_uc010bpe.2_Missense_Mutation_p.E587K|PCSK6_uc002bxa.2_Missense_Mutation_p.E587K|PCSK6_uc002bxb.2_Missense_Mutation_p.E587K|PCSK6_uc002bxc.1_Missense_Mutation_p.E587K|PCSK6_uc002bxd.1_Missense_Mutation_p.E587K|PCSK6_uc002bxe.2_Missense_Mutation_p.E587K|PCSK6_uc002bxf.1_Missense_Mutation_p.E87K	p.E587K	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		14	2073	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		587			Homo B/P.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1759G>A		.	.	.	.	.	.	.	.	.	.	C	20.4	3.984915	0.74474	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93	5.1	5.1	0.69264	Proprotein convertase, P (1);Galactose-binding domain-like (1);	0.050783	0.85682	D	0.000000	T	0.81118	0.4756	L	0.35793	1.09	0.80722	D	1	B;P;B;B;B;B;D;B;B	0.71674	0.145;0.659;0.326;0.124;0.329;0.151;0.998;0.282;0.377	B;B;B;B;B;B;D;B;B	0.80764	0.097;0.191;0.299;0.105;0.327;0.168;0.994;0.159;0.424	T	0.82546	-0.0403	10	0.56958	D	0.05	-28.5804	17.4988	0.87726	0.0:1.0:0.0:0.0	.	587;418;587;587;586;586;587;587;586	P29122;Q59H04;P29122-2;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	K	586;586;417;586;586;421	ENSP00000305056:E586K;ENSP00000351193:E586K;ENSP00000344410:E586K;ENSP00000381243:E586K;ENSP00000332052:E421K	ENSP00000332052:E421K	E	-	1	0	PCSK6	99724023	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.247000	0.78257	2.351000	0.79841	0.655000	0.94253	GAA		0.542	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_002570		7	61	0	0	0	0.001984	0	7	61		
CCDC78	124093	broad.mit.edu	37	16	775278	775278	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:775278T>C	ENST00000293889.6	-	5	556	c.451A>G	c.(451-453)Acc>Gcc	p.T151A	HAGHL_ENST00000564537.1_5'Flank|HAGHL_ENST00000341413.4_5'Flank|HAGHL_ENST00000549114.1_5'Flank|HAGHL_ENST00000564545.1_5'Flank|HAGHL_ENST00000561546.1_5'Flank|HAGHL_ENST00000389703.3_5'Flank	NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	151					cell projection organization (GO:0030030)|de novo centriole assembly (GO:0098535)|skeletal muscle contraction (GO:0003009)	centriole (GO:0005814)|deuterosome (GO:0098536)|perinuclear region of cytoplasm (GO:0048471)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				GGGTTCATGGTGTTCTTGGGC	0.632																																						uc002cjg.2		NaN																	0				central_nervous_system(1)	1						c.(451-453)ACC>GCC		coiled-coil domain containing 78							69.0	79.0	76.0					16																	775278		2195	4294	6489	SO:0001583	missense	124093							g.chr16:775278T>C	BC042110	CCDS32353.1	16p13.3	2014-07-15		2006-02-20	ENSG00000162004	ENSG00000162004			14153	protein-coding gene	gene with protein product		614666		C16orf25		24075808	Standard	NM_001031737		Approved	FLJ34512	uc002cjg.3	A2IDD5	OTTHUMG00000121176	ENST00000293889.6:c.451A>G	16.37:g.775278T>C	ENSP00000293889:p.Thr151Ala					CCDC78_uc002cjf.2_5'UTR|CCDC78_uc002cji.3_Missense_Mutation_p.T225A|CCDC78_uc002cjj.3_Missense_Mutation_p.T95A|CCDC78_uc002cjh.2_5'UTR|CCDC78_uc010uuo.1_Missense_Mutation_p.T151A|CCDC78_uc002cjk.2_Missense_Mutation_p.T140A|HAGHL_uc002cjl.1_5'Flank|HAGHL_uc002cjm.1_5'Flank|HAGHL_uc002cjn.1_5'Flank|HAGHL_uc002cjo.1_5'Flank|HAGHL_uc010uup.1_5'Flank	p.T151A	NM_001031737	NP_001026907	A2IDD5	CCD78_HUMAN			5	557	-		Hepatocellular(780;0.0218)	151					B4DNY4|B4E1U6|Q05BY7|Q05CA0|Q6T2V5|Q6ZR33|Q8IUR3|Q8NAY7|Q96S12	Missense_Mutation	SNP	ENST00000293889.6	37	c.451A>G	CCDS32353.1	.	.	.	.	.	.	.	.	.	.	T	2.618	-0.289187	0.05605	.	.	ENSG00000162004	ENST00000293889	T	0.43688	0.94	3.76	-7.53	0.01336	.	2.700620	0.01375	N	0.012734	T	0.16171	0.0389	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.18085	-1.0348	10	0.12766	T	0.61	0.2869	1.1833	0.01849	0.3113:0.3115:0.0896:0.2876	.	151;140;151;225;151	A2IDD5-4;A2IDD5-6;A2IDD5-3;A2IDD5-5;A2IDD5	.;.;.;.;CCD78_HUMAN	A	151	ENSP00000293889:T151A	ENSP00000293889:T151A	T	-	1	0	CCDC78	715279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.805000	0.01737	-2.081000	0.00869	-2.401000	0.00224	ACC		0.632	CCDC78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241665.3		NM_173476		61	90	0	0	0	0.00361	0	61	90		
RPUSD1	113000	broad.mit.edu	37	16	836923	836923	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:836923C>T	ENST00000561734.1	-	4	658	c.415G>A	c.(415-417)Gag>Aag	p.E139K	RPUSD1_ENST00000565809.1_Silent_p.V104V|RPUSD1_ENST00000567114.1_Missense_Mutation_p.E10K|CHTF18_ENST00000317063.6_5'Flank|CHTF18_ENST00000455171.2_5'Flank|CHTF18_ENST00000262315.9_5'Flank|RPUSD1_ENST00000007264.2_Missense_Mutation_p.E139K			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	139					pseudouridine synthesis (GO:0001522)		pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TTTGGGTTCTCACAACCTGGG	0.647																																						uc002cka.2		NaN																	0					0						c.(415-417)GAG>AAG		RNA pseudouridylate synthase domain containing							134.0	115.0	122.0					16																	836923		2200	4299	6499	SO:0001583	missense	113000				pseudouridine synthesis		pseudouridine synthase activity|RNA binding	g.chr16:836923C>T	AE006465	CCDS10426.1	16p13.3	2013-02-11	2005-01-31	2005-01-31	ENSG00000007376	ENSG00000007376		"""RNA pseudouridylate synthase domain containing"""	14173	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 40"""	C16orf40			Standard	NM_058192		Approved	RLUCL, MGC19600	uc002ckb.3	Q9UJJ7	OTTHUMG00000047840	ENST00000561734.1:c.415G>A	16.37:g.836923C>T	ENSP00000455026:p.Glu139Lys					RPUSD1_uc002ckb.2_Missense_Mutation_p.E139K|RPUSD1_uc002ckc.2_Missense_Mutation_p.E10K|RPUSD1_uc002ckd.2_Silent_p.V104V|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank	p.E139K	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN			4	649	-		Hepatocellular(780;0.00335)	139					D3DU66	Missense_Mutation	SNP	ENST00000561734.1	37	c.415G>A	CCDS10426.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080337	0.55753	.	.	ENSG00000007376	ENST00000007264	T	0.13307	2.6	4.18	4.18	0.49190	Pseudouridine synthase, RsuA and RluB/C/D/E/F (1);Pseudouridine synthase, catalytic domain (1);	0.050006	0.85682	D	0.000000	T	0.11110	0.0271	L	0.31526	0.94	0.53005	D	0.999967	B	0.24092	0.097	B	0.23150	0.044	T	0.14090	-1.0485	10	0.22109	T	0.4	-35.1478	15.2134	0.73244	0.0:1.0:0.0:0.0	.	139	Q9UJJ7	RUSD1_HUMAN	K	139	ENSP00000007264:E139K	ENSP00000007264:E139K	E	-	1	0	RPUSD1	776924	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	5.460000	0.66691	2.157000	0.67596	0.549000	0.68633	GAG		0.647	RPUSD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420620.1		NM_058192		21	85	0	0	0	0.002299	0	21	85		
BAIAP3	8938	broad.mit.edu	37	16	1395092	1395092	+	Missense_Mutation	SNP	C	C	G	rs552420271		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:1395092C>G	ENST00000324385.5	+	21	2195	c.2037C>G	c.(2035-2037)atC>atG	p.I679M	BAIAP3_ENST00000562208.1_Missense_Mutation_p.I621M|BAIAP3_ENST00000397488.2_Missense_Mutation_p.I661M|BAIAP3_ENST00000421665.2_Missense_Mutation_p.I608M|BAIAP3_ENST00000397489.1_Missense_Mutation_p.I661M|BAIAP3_ENST00000426824.3_Missense_Mutation_p.I644M|BAIAP3_ENST00000568887.1_Missense_Mutation_p.I616M	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	679	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GGGATAGCATCCCTGGCCGGT	0.647																																						uc002clk.1		NaN																	0				pancreas(1)	1						c.(2035-2037)ATC>ATG		BAI1-associated protein 3							60.0	65.0	63.0					16																	1395092		2199	4299	6498	SO:0001583	missense	8938				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding	g.chr16:1395092C>G	AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.2037C>G	16.37:g.1395092C>G	ENSP00000324510:p.Ile679Met					BAIAP3_uc002clj.2_Missense_Mutation_p.I661M|BAIAP3_uc010uuz.1_Missense_Mutation_p.I644M|BAIAP3_uc010uva.1_Missense_Mutation_p.I616M|BAIAP3_uc010uvc.1_Missense_Mutation_p.I608M	p.I679M	NM_003933	NP_003924	O94812	BAIP3_HUMAN			21	2037	+		Hepatocellular(780;0.0893)	679			MHD1.		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	ENST00000324385.5	37	c.2037C>G	CCDS10434.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.565279	0.27915	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.71461	-0.56;-0.57;-0.57;-0.57;-0.56	4.42	2.41	0.29592	Munc13 homology 1 (1);	0.127433	0.53938	D	0.000060	T	0.60222	0.2252	N	0.25647	0.755	0.33215	D	0.553891	D;P;D;D	0.57899	0.981;0.893;0.96;0.96	B;P;P;P	0.49887	0.391;0.487;0.625;0.548	T	0.67225	-0.5724	10	0.66056	D	0.02	-26.8391	5.6258	0.17482	0.1926:0.7019:0.0:0.1055	.	608;621;679;661	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	M	644;661;679;661;608	ENSP00000407242:I644M;ENSP00000380625:I661M;ENSP00000324510:I679M;ENSP00000380626:I661M;ENSP00000409533:I608M	ENSP00000324510:I679M	I	+	3	3	BAIAP3	1335093	0.000000	0.05858	0.993000	0.49108	0.736000	0.42039	0.208000	0.17415	0.303000	0.22785	0.436000	0.28706	ATC		0.647	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109056.3				41	111	0	0	0	0.006999	0	41	111		
SRRM2	23524	broad.mit.edu	37	16	2808993	2808993	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:2808993G>A	ENST00000301740.8	+	6	1150	c.601G>A	c.(601-603)Gag>Aag	p.E201K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	201	Lys-rich.|Ser-rich.|Sufficient for RNA-binding.				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						TAGCAGGTCAGAGAGCAGCTC	0.453																																						uc002crk.2		NaN																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(601-603)GAG>AAG		splicing coactivator subunit SRm300							93.0	91.0	91.0					16																	2808993		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.chr16:2808993G>A	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.601G>A	16.37:g.2808993G>A	ENSP00000301740:p.Glu201Lys					SRRM2_uc002crj.1_Missense_Mutation_p.E105K|SRRM2_uc002crl.1_Missense_Mutation_p.E201K|SRRM2_uc010bsu.1_Missense_Mutation_p.E105K	p.E201K	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			6	1150	+			201			Sufficient for RNA-binding.|Lys-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.601G>A	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988427	0.35036	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000396975;ENST00000426305	T	0.25414	1.8	4.59	4.59	0.56863	.	0.000000	0.50627	D	0.000115	T	0.18467	0.0443	N	0.03608	-0.345	0.29925	N	0.822381	D	0.61697	0.99	P	0.54629	0.757	T	0.04255	-1.0965	10	0.33141	T	0.24	-1.906	10.2003	0.43080	0.0:0.0:0.8012:0.1988	.	201	Q9UQ35	SRRM2_HUMAN	K	201;201;105;166	ENSP00000301740:E201K	ENSP00000301740:E201K	E	+	1	0	SRRM2	2748994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.268000	0.51585	2.077000	0.62373	0.561000	0.74099	GAG		0.453	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1				18	35	0	0	0	0.006122	0	18	35		
OR1F1	4992	broad.mit.edu	37	16	3254779	3254779	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:3254779T>C	ENST00000304646.2	+	1	533	c.533T>C	c.(532-534)tTc>tCc	p.F178S	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	178					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						ACTCACTTCTTCTGCGATGTG	0.507																																						uc010uwu.1		NaN																	0					0						c.(532-534)TTC>TCC		olfactory receptor, family 1, subfamily F,							130.0	113.0	119.0					16																	3254779		2197	4300	6497	SO:0001583	missense	4992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr16:3254779T>C	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.533T>C	16.37:g.3254779T>C	ENSP00000305424:p.Phe178Ser						p.F178S	NM_012360	NP_036492	O43749	OR1F1_HUMAN			1	533	+			178			Extracellular (Potential).		O15246|Q6IFL5	Missense_Mutation	SNP	ENST00000304646.2	37	c.533T>C	CCDS10496.1	.	.	.	.	.	.	.	.	.	.	T	12.03	1.816174	0.32145	.	.	ENSG00000168124	ENST00000304646	T	0.00258	8.41	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.102039	0.44097	D	0.000487	T	0.00754	0.0025	M	0.92122	3.275	0.32449	N	0.545681	D	0.89917	1.0	D	0.97110	1.0	T	0.11941	-1.0567	10	0.87932	D	0	.	12.9165	0.58209	0.0:0.0:0.0:1.0	.	178	O43749	OR1F1_HUMAN	S	178	ENSP00000305424:F178S	ENSP00000305424:F178S	F	+	2	0	OR1F1	3194780	0.994000	0.37717	1.000000	0.80357	0.143000	0.21401	1.343000	0.33930	1.929000	0.55896	0.323000	0.21402	TTC		0.507	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206985.1				41	110	0	0	0	0.006999	0	41	110		
NAGPA	51172	broad.mit.edu	37	16	5083318	5083318	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:5083318C>T	ENST00000312251.3	-	2	517	c.498G>A	c.(496-498)caG>caA	p.Q166Q	ALG1_ENST00000588623.1_5'Flank|RP11-165E7.1_ENST00000588778.1_RNA|NAGPA_ENST00000564922.1_Intron|NAGPA_ENST00000381955.3_Silent_p.Q166Q	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	166					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|lysosome organization (GO:0007040)|protein glycosylation (GO:0006486)|protein targeting to lysosome (GO:0006622)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity (GO:0003944)			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	ACTGCGCGTTCTGCAGCCCCC	0.697																																						uc002cyg.2		NaN																	0					0						c.(496-498)CAG>CAA		N-acetylglucosamine-1-phosphodiester	N-Acetyl-D-glucosamine(DB00141)						8.0	9.0	9.0					16																	5083318		1872	3844	5716	SO:0001819	synonymous_variant	51172				carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity	g.chr16:5083318C>T	AF187072	CCDS10527.1	16p13.3	2008-02-05			ENSG00000103174	ENSG00000103174	3.1.4.45		17378	protein-coding gene	gene with protein product		607985				10551838, 12058031	Standard	NM_016256		Approved	APAA, UCE	uc002cyg.3	Q9UK23	OTTHUMG00000090515	ENST00000312251.3:c.498G>A	16.37:g.5083318C>T						ALG1_uc002cyj.2_5'Flank|NAGPA_uc002cyf.2_Silent_p.Q24Q|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Silent_p.Q24Q|NAGPA_uc010uxx.1_Intron	p.Q166Q	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN			2	519	-			166			Lumenal (Potential).		B2RAS1|Q96EJ8	Silent	SNP	ENST00000312251.3	37	c.498G>A	CCDS10527.1																																																																																				0.697	NAGPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207003.1		NM_016256		14	22	0	0	0	0.003163	0	14	22		
ALG1	56052	broad.mit.edu	37	16	5123184	5123184	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:5123184A>T	ENST00000262374.5	+	3	348	c.317A>T	c.(316-318)aAa>aTa	p.K106I	ALG1_ENST00000544428.1_De_novo_Start_OutOfFrame|ALG1_ENST00000588623.1_De_novo_Start_OutOfFrame	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	106					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipopolysaccharide biosynthetic process (GO:0009103)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chitobiosyldiphosphodolichol beta-mannosyltransferase activity (GO:0004578)|mannosyltransferase activity (GO:0000030)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				TACGGAGTCAAAGTTGTACTT	0.507																																						uc002cym.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(316-318)AAA>ATA		beta-1,4-mannosyltransferase							219.0	203.0	208.0					16																	5123184		2197	4300	6497	SO:0001583	missense	56052				dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	g.chr16:5123184A>T	AB019038	CCDS10528.1	16p13.3	2013-02-22	2013-02-22		ENSG00000033011	ENSG00000033011	2.4.1.142	"""Glycosyltransferase group 1 domain containing"""	18294	protein-coding gene	gene with protein product		605907	"""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase)"", ""asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae)"""			10704531	Standard	NM_019109		Approved	HMT-1, HMAT1	uc002cym.3	Q9BT22	OTTHUMG00000129529	ENST00000262374.5:c.317A>T	16.37:g.5123184A>T	ENSP00000262374:p.Lys106Ile					ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.K106I|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR	p.K106I	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN			3	358	+		Ovarian(90;0.0164)	106			Lumenal (Potential).		B4DP08|Q6UVZ9|Q8N5Y4|Q9P2Y2	Missense_Mutation	SNP	ENST00000262374.5	37	c.317A>T	CCDS10528.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.054938	0.75960	.	.	ENSG00000033011	ENST00000262374	D	0.89485	-2.52	5.03	3.91	0.45181	.	0.047247	0.85682	D	0.000000	D	0.95050	0.8397	M	0.92077	3.27	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94697	0.7879	10	0.87932	D	0	-8.1012	10.3291	0.43812	0.8344:0.1656:0.0:0.0	.	106	Q9BT22	ALG1_HUMAN	I	106	ENSP00000262374:K106I	ENSP00000262374:K106I	K	+	2	0	ALG1	5063185	1.000000	0.71417	0.996000	0.52242	0.831000	0.47069	5.644000	0.67902	0.816000	0.34421	0.459000	0.35465	AAA		0.507	ALG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251716.2		NM_019109		16	72	0	0	0	0.00499	0	16	72		
GRIN2A	2903	broad.mit.edu	37	16	9857968	9857968	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:9857968C>T	ENST00000396573.2	-	14	3742	c.3433G>A	c.(3433-3435)Gtg>Atg	p.V1145M	GRIN2A_ENST00000562109.1_Missense_Mutation_p.V1145M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.V1145M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.V1145M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.V988M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.V1145M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1145					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGGAAGTCCACGTTCTCGGGC	0.537																																						uc002czo.3		NaN																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(3433-3435)GTG>ATG		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						106.0	112.0	110.0					16																	9857968		2197	4300	6497	SO:0001583	missense	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9857968C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.3433G>A	16.37:g.9857968C>T	ENSP00000379818:p.Val1145Met					GRIN2A_uc010uym.1_Missense_Mutation_p.V1145M|GRIN2A_uc010uyn.1_Missense_Mutation_p.V988M|GRIN2A_uc002czr.3_Missense_Mutation_p.V1145M	p.V1145M	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			13	3981	-			1145			Cytoplasmic (Potential).		O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.3433G>A	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	C	8.735	0.917581	0.17982	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.13778	2.57;2.56;2.57;2.57;2.57	5.21	2.01	0.26516	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.682594	0.15409	N	0.263900	T	0.11537	0.0281	L	0.46157	1.445	0.09310	N	0.999997	B;B;B	0.27882	0.158;0.19;0.192	B;B;B	0.29598	0.063;0.104;0.082	T	0.25847	-1.0120	9	.	.	.	.	6.621	0.22802	0.0:0.6399:0.1315:0.2286	.	988;1145;1145	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	M	1145;1145;988;1145;1145	ENSP00000379818:V1145M;ENSP00000385872:V1145M;ENSP00000441572:V988M;ENSP00000332549:V1145M;ENSP00000379820:V1145M	.	V	-	1	0	GRIN2A	9765469	0.206000	0.23470	0.924000	0.36721	0.952000	0.60782	-0.121000	0.10643	0.589000	0.29677	0.650000	0.86243	GTG		0.537	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3				48	168	0	0	0	0.00361	0	48	168		
SMG1	23049	broad.mit.edu	37	16	18864945	18864945	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:18864945C>T	ENST00000446231.2	-	31	5140	c.4728G>A	c.(4726-4728)acG>acA	p.T1576T	SMG1_ENST00000389467.3_Silent_p.T1576T			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1576	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTCTTCCATCGTATTAACAG	0.348																																						uc002dfm.2		NaN																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(4726-4728)ACG>ACA		PI-3-kinase-related kinase SMG-1							90.0	81.0	84.0					16																	18864945		1832	4088	5920	SO:0001819	synonymous_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18864945C>T	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.4728G>A	16.37:g.18864945C>T						SMG1_uc010bwb.2_Silent_p.T1436T|SMG1_uc010bwa.2_Silent_p.T307T	p.T1576T	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			31	5091	-			1576			FAT.|Interaction with SMG8 and SMG9.		O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	c.4728G>A	CCDS45430.1																																																																																				0.348	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1		NM_015092		7	25	0	0	0	0.001984	0	7	25		
CCP110	9738	broad.mit.edu	37	16	19539318	19539318	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:19539318C>T	ENST00000381396.5	+	2	362	c.115C>T	c.(115-117)Cat>Tat	p.H39Y	CCP110_ENST00000396208.2_Missense_Mutation_p.H39Y|CCP110_ENST00000396212.2_Missense_Mutation_p.H39Y	NM_001199022.1	NP_001185951	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	39	CEP97 binding.				cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cytokinesis (GO:0032465)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TATTCGCTTTCATGGAGTGGC	0.373																																						uc002dgl.3		NaN																	0					0						c.(115-117)CAT>TAT		RecName: Full=Centrosomal protein of 110 kDa;          Short=Cep110;							146.0	123.0	131.0					16																	19539318		2197	4300	6497	SO:0001583	missense	9738				centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding	g.chr16:19539318C>T	AB007879	CCDS10579.1, CCDS55992.1	16p12.3	2014-02-20	2011-05-27		ENSG00000103540	ENSG00000103540			24342	protein-coding gene	gene with protein product		609544				9455477, 12361598, 16760425	Standard	NM_014711		Approved	KIAA0419, CP110	uc002dgl.4	O43303	OTTHUMG00000131459	ENST00000381396.5:c.115C>T	16.37:g.19539318C>T	ENSP00000370803:p.His39Tyr					CP110_uc002dgk.3_Missense_Mutation_p.H39Y	p.H39Y			O43303	CP110_HUMAN			2	362	+			39			CEP97 binding.		B7WP23|O43335|Q68DV9|Q8NE13	Missense_Mutation	SNP	ENST00000381396.5	37	c.115C>T	CCDS55992.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822073	0.32237	.	.	ENSG00000103540	ENST00000396212;ENST00000381396;ENST00000396208	T;T;T	0.15603	2.41;2.41;2.41	5.23	5.23	0.72850	.	0.231067	0.37715	N	0.001966	T	0.17066	0.0410	L	0.52573	1.65	0.39035	D	0.960016	B;B	0.20671	0.047;0.047	B;B	0.16289	0.015;0.015	T	0.02958	-1.1089	10	0.38643	T	0.18	-1.5655	12.139	0.53986	0.0:0.8753:0.0:0.1247	.	39;39	O43303;O43303-2	CP110_HUMAN;.	Y	39	ENSP00000379515:H39Y;ENSP00000370803:H39Y;ENSP00000379511:H39Y	ENSP00000370803:H39Y	H	+	1	0	CCP110	19446819	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.881000	0.48538	2.603000	0.88011	0.650000	0.86243	CAT		0.373	CCP110-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254284.2		NM_014711		30	78	0	0	0	0.003755	0	30	78		
C16orf62	57020	broad.mit.edu	37	16	19656273	19656273	+	Splice_Site	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:19656273T>C	ENST00000251143.5	+	23	1941		c.e23+2		C16orf62_ENST00000542263.1_Splice_Site|C16orf62_ENST00000417362.2_Splice_Site|C16orf62_ENST00000448695.1_Splice_Site|C16orf62_ENST00000543152.1_Splice_Site|C16orf62_ENST00000438132.3_Splice_Site			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62							integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ATAAAAATGGTAAGTATTAGG	0.338																																						uc002dgn.1		NaN																	0				ovary(1)	1						c.e23+2		hypothetical protein LOC57020							87.0	92.0	91.0					16																	19656273		2196	4300	6496	SO:0001630	splice_region_variant	57020					integral to membrane		g.chr16:19656273T>C		CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.1929+2T>C	16.37:g.19656273T>C						C16orf62_uc002dgo.1_Splice_Site_p.M576_splice|C16orf62_uc002dgp.1_Splice_Site_p.M392_splice	p.M643_splice	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN			23	1941	+								A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Splice_Site	SNP	ENST00000251143.5	37	c.1929_splice		.	.	.	.	.	.	.	.	.	.	T	25.1	4.606474	0.87157	.	.	ENSG00000103544	ENST00000438132;ENST00000542263;ENST00000251143;ENST00000417362;ENST00000448695	.	.	.	5.75	5.75	0.90469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0341	0.71731	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	C16orf62	19563774	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	6.924000	0.75823	2.197000	0.70478	0.528000	0.53228	.		0.338	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_020314	Intron	16	51	0	0	0	0.006122	0	16	51		
PDILT	204474	broad.mit.edu	37	16	20410448	20410448	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:20410448G>T	ENST00000302451.4	-	2	423	c.175C>A	c.(175-177)Cag>Aag	p.Q59K		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	59					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AAGCGGGTCTGGTTCAGCATC	0.587																																						uc002dhc.1		NaN																	0				large_intestine(1)	1						c.(175-177)CAG>AAG		protein disulfide isomerase-like, testis							108.0	98.0	101.0					16																	20410448		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20410448G>T		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.175C>A	16.37:g.20410448G>T	ENSP00000305465:p.Gln59Lys						p.Q59K	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			2	398	-			59					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.175C>A	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866369	0.32977	.	.	ENSG00000169340	ENST00000302451	T	0.02890	4.12	4.21	-8.21	0.01041	Thioredoxin domain (1);Thioredoxin-like fold (2);	0.448010	0.24417	N	0.038717	T	0.02119	0.0066	N	0.12961	0.28	0.18873	N	0.999983	B	0.17268	0.021	B	0.16289	0.015	T	0.33471	-0.9867	10	0.24483	T	0.36	.	24.2966	0.99989	0.0:0.8525:0.1475:0.0	.	59	Q8N807	PDILT_HUMAN	K	59	ENSP00000305465:Q59K	ENSP00000305465:Q59K	Q	-	1	0	PDILT	20317949	0.051000	0.20477	0.120000	0.21714	0.846000	0.48090	-0.294000	0.08309	-1.480000	0.01865	-1.211000	0.01629	CAG		0.587	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1		NM_174924		27	77	1	0	9.39395e-14	0.00632	1.21358e-13	27	77		
DNAH3	55567	broad.mit.edu	37	16	20975839	20975839	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:20975839T>C	ENST00000261383.3	-	53	9366	c.9367A>G	c.(9367-9369)Acc>Gcc	p.T3123A	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3123	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGACAGGGGTGCCTAACTGC	0.438																																						uc010vbe.1		NaN																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(9367-9369)ACC>GCC		dynein, axonemal, heavy chain 3							179.0	171.0	173.0					16																	20975839		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:20975839T>C	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9367A>G	16.37:g.20975839T>C	ENSP00000261383:p.Thr3123Ala					DNAH3_uc010vbd.1_Missense_Mutation_p.T558A	p.T3123A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	53	9367	-			3123			AAA 5 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.9367A>G	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	11.43	1.637618	0.29157	.	.	ENSG00000158486	ENST00000261383	T	0.19806	2.12	5.81	5.81	0.92471	.	0.054800	0.64402	D	0.000001	T	0.27313	0.0670	M	0.83012	2.62	0.80722	D	1	B	0.32051	0.354	B	0.30105	0.111	T	0.18085	-1.0348	10	0.07482	T	0.82	.	16.1625	0.81731	0.0:0.0:0.0:1.0	.	3123	Q8TD57	DYH3_HUMAN	A	3123	ENSP00000261383:T3123A	ENSP00000261383:T3123A	T	-	1	0	DNAH3	20883340	1.000000	0.71417	0.997000	0.53966	0.362000	0.29581	5.145000	0.64839	2.225000	0.72522	0.454000	0.30748	ACC		0.438	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1		NM_017539		62	197	0	0	0	0.00361	0	62	197		
GTF3C1	2975	broad.mit.edu	37	16	27472877	27472877	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:27472877C>T	ENST00000356183.4	-	37	6139	c.6124G>A	c.(6124-6126)Gag>Aag	p.E2042K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E2017K|GTF3C1_ENST00000567806.1_5'Flank	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2042					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCGAGGGACTCCAGGCCCTGG	0.577																																						uc002dov.1		NaN																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(6124-6126)GAG>AAG		general transcription factor IIIC, polypeptide							60.0	53.0	56.0					16																	27472877		2197	4300	6497	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27472877C>T	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.6124G>A	16.37:g.27472877C>T	ENSP00000348510:p.Glu2042Lys					GTF3C1_uc002dou.2_Missense_Mutation_p.E2017K	p.E2042K	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			37	6164	-			2042					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.6124G>A	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.979428	0.92982	.	.	ENSG00000077235	ENST00000356183	T	0.26660	1.72	5.12	5.12	0.69794	.	0.358636	0.26514	N	0.023952	T	0.51109	0.1655	M	0.73962	2.25	0.36620	D	0.875687	D;D	0.71674	0.996;0.998	P;D	0.80764	0.843;0.994	T	0.60316	-0.7287	10	0.52906	T	0.07	-15.8206	15.3242	0.74147	0.0:1.0:0.0:0.0	.	2042;2017	Q12789;Q12789-3	TF3C1_HUMAN;.	K	2042	ENSP00000348510:E2042K	ENSP00000348510:E2042K	E	-	1	0	GTF3C1	27380378	0.993000	0.37304	0.971000	0.41717	0.901000	0.52897	2.846000	0.48262	2.393000	0.81446	0.556000	0.70494	GAG		0.577	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1		NM_001520		23	55	0	0	0	0.004656	0	23	55		
SH2B1	25970	broad.mit.edu	37	16	28883959	28883959	+	Silent	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:28883959T>A	ENST00000322610.8	+	10	2269	c.1830T>A	c.(1828-1830)ccT>ccA	p.P610P	SH2B1_ENST00000337120.5_Silent_p.P610P|SH2B1_ENST00000359285.5_Silent_p.P610P|SH2B1_ENST00000545570.1_Silent_p.P300P|SH2B1_ENST00000538342.1_Silent_p.P274P|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Silent_p.P610P			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	610	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ACCCCATCCCTTTGGAGTCGG	0.602																																						uc002dri.2		NaN																	0				ovary(2)	2						c.(1828-1830)CCT>CCA		SH2B adaptor protein 1 isoform 1							118.0	103.0	108.0					16																	28883959		2197	4300	6497	SO:0001819	synonymous_variant	25970				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity	g.chr16:28883959T>A	AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1830T>A	16.37:g.28883959T>A						uc010vct.1_Intron|SH2B1_uc010vdc.1_Silent_p.P300P|SH2B1_uc002drj.2_Silent_p.P610P|SH2B1_uc002drk.2_Silent_p.P610P|SH2B1_uc002drl.2_Silent_p.P610P|SH2B1_uc010vdd.1_Silent_p.P274P|SH2B1_uc010vde.1_Silent_p.P610P|SH2B1_uc002drm.2_Silent_p.P610P	p.P610P	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN			10	2269	+			610			SH2.		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Silent	SNP	ENST00000322610.8	37	c.1830T>A	CCDS53996.1																																																																																				0.602	SH2B1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000432666.1		NM_015503		42	90	0	0	0	0.002222	0	42	90		
ATP2A1	487	broad.mit.edu	37	16	28914209	28914209	+	Silent	SNP	C	C	T	rs541644982		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:28914209C>T	ENST00000357084.3	+	19	2988	c.2721C>T	c.(2719-2721)atC>atT	p.I907I	ATP2A1_ENST00000395503.4_Silent_p.I907I|ATP2A1_ENST00000536376.1_Silent_p.I782I	NM_173201.3	NP_775293.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	907					apoptotic mitochondrial changes (GO:0008637)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|ion transmembrane transport (GO:0034220)|maintenance of mitochondrion location (GO:0051659)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of striated muscle contraction (GO:0045988)|positive regulation of endoplasmic reticulum calcium ion concentration (GO:0032470)|positive regulation of fast-twitch skeletal muscle fiber contraction (GO:0031448)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|regulation of striated muscle contraction (GO:0006942)|relaxation of skeletal muscle (GO:0090076)|response to endoplasmic reticulum stress (GO:0034976)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|H zone (GO:0031673)|I band (GO:0031674)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGGTGACCATCGAGATGTGCA	0.637																																						uc002dro.1		NaN																	0				ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(2719-2721)ATC>ATT		ATPase, Ca++ transporting, fast twitch 1 isoform							73.0	61.0	65.0					16																	28914209		2197	4300	6497	SO:0001819	synonymous_variant	487				apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity	g.chr16:28914209C>T		CCDS10643.1, CCDS42139.1, CCDS66997.1	16p12.1	2012-10-22			ENSG00000196296	ENSG00000196296	3.6.3.8	"""ATPases / P-type"""	811	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 1"", ""calcium pump 1"""	108730		ATP2A			Standard	NM_004320		Approved	SERCA1	uc002dro.1	O14983	OTTHUMG00000131760	ENST00000357084.3:c.2721C>T	16.37:g.28914209C>T						uc010vct.1_Intron|ATP2A1_uc002drn.1_Silent_p.I907I|ATP2A1_uc002drp.1_Silent_p.I782I	p.I907I	NM_173201	NP_775293	O14983	AT2A1_HUMAN			19	2905	+			907			Helical; Name=8; (By similarity).		A8K5J9|B3KY17|O14984	Silent	SNP	ENST00000357084.3	37	c.2721C>T	CCDS10643.1																																																																																				0.637	ATP2A1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254686.2		NM_004320		16	30	0	0	0	0.003163	0	16	30		
NFATC2IP	84901	broad.mit.edu	37	16	28963486	28963486	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:28963486C>G	ENST00000320805.4	+	2	496	c.421C>G	c.(421-423)Cta>Gta	p.L141V	NFATC2IP_ENST00000562977.1_3'UTR|NFATC2IP_ENST00000564978.1_5'UTR	NM_032815.3	NP_116204.3	Q8NCF5	NF2IP_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein	141					cytokine production (GO:0001816)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2)	11						CCCAGATGATCTATCCCTCCT	0.542																																						uc002dru.2		NaN																	0				ovary(1)	1						c.(421-423)CTA>GTA		nuclear factor of activated T-cells,							114.0	112.0	113.0					16																	28963486		2197	4300	6497	SO:0001583	missense	84901					cytoplasm|nucleus		g.chr16:28963486C>G	AK074761	CCDS10645.1	16p11.2	2010-09-13			ENSG00000176953	ENSG00000176953			25906	protein-coding gene	gene with protein product		614525				15698469	Standard	NM_032815		Approved	FLJ14639, NIP45, RAD60, ESC2	uc002dru.3	Q8NCF5	OTTHUMG00000097763	ENST00000320805.4:c.421C>G	16.37:g.28963486C>G	ENSP00000324792:p.Leu141Val					uc010vct.1_Intron|NFATC2IP_uc002drt.2_Translation_Start_Site|NFATC2IP_uc010vdg.1_Missense_Mutation_p.L141V	p.L141V	NM_032815	NP_116204	Q8NCF5	NF2IP_HUMAN			2	436	+			141					B7Z4G5|Q66K34|Q6NVK1|Q8NFR2|Q96ST9	Missense_Mutation	SNP	ENST00000320805.4	37	c.421C>G	CCDS10645.1	.	.	.	.	.	.	.	.	.	.	C	5.335	0.247179	0.10130	.	.	ENSG00000176953	ENST00000320805	T	0.18810	2.19	5.15	-2.14	0.07123	.	1.063550	0.07495	N	0.906257	T	0.08088	0.0202	N	0.08118	0	0.09310	N	1	B;B	0.20550	0.046;0.002	B;B	0.18263	0.021;0.003	T	0.37244	-0.9714	10	0.17832	T	0.49	0.3304	2.833	0.05506	0.1327:0.3147:0.385:0.1676	.	141;141	B7Z8Y9;Q8NCF5	.;NF2IP_HUMAN	V	141	ENSP00000324792:L141V	ENSP00000324792:L141V	L	+	1	2	NFATC2IP	28870987	0.000000	0.05858	0.000000	0.03702	0.249000	0.25844	-0.963000	0.03837	-0.341000	0.08376	0.313000	0.20887	CTA		0.542	NFATC2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214999.2		NM_032815		48	106	0	0	0	0.00361	0	48	106		
TAOK2	9344	broad.mit.edu	37	16	29994162	29994162	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:29994162G>A	ENST00000308893.4	+	11	1982	c.939G>A	c.(937-939)aaG>aaA	p.K313K	TAOK2_ENST00000279394.3_Silent_p.K313K|TAOK2_ENST00000416441.2_Silent_p.K140K|TAOK2_ENST00000543033.1_Silent_p.K313K	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	313					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCAAGATGAAGAAGATCCTGT	0.602																																						uc002dva.1		NaN																	0				ovary(1)	1						c.(937-939)AAG>AAA		TAO kinase 2 isoform 2							108.0	95.0	99.0					16																	29994162		2197	4300	6497	SO:0001819	synonymous_variant	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29994162G>A	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.939G>A	16.37:g.29994162G>A						uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.1_Silent_p.K313K|TAOK2_uc002dvc.1_Silent_p.K313K|TAOK2_uc010bzm.1_Silent_p.K313K|TAOK2_uc002dvd.1_Silent_p.K140K	p.K313K	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN			11	1722	+			313					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Silent	SNP	ENST00000308893.4	37	c.939G>A	CCDS10663.1																																																																																				0.602	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2		NM_016151		36	97	0	0	0	0.004289	0	36	97		
PRSS36	146547	broad.mit.edu	37	16	31157215	31157215	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:31157215G>A	ENST00000268281.4	-	6	673	c.615C>T	c.(613-615)acC>acT	p.T205T	PRSS36_ENST00000418068.2_Silent_p.T205T|PRSS36_ENST00000569305.1_Silent_p.T205T	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	205	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GACATTGACAGGTGGCCTCGC	0.612																																						uc002ebd.2		NaN																	0				ovary(1)	1						c.(613-615)ACC>ACT		protease, serine, 36 precursor							54.0	50.0	52.0					16																	31157215		2197	4300	6497	SO:0001819	synonymous_variant	146547				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity	g.chr16:31157215G>A	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.615C>T	16.37:g.31157215G>A						PRSS36_uc010vff.1_5'UTR|PRSS36_uc010vfg.1_Silent_p.T205T|PRSS36_uc010vfh.1_Silent_p.T205T	p.T205T	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN			6	674	-			205			Peptidase S1 1.		A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Silent	SNP	ENST00000268281.4	37	c.615C>T	CCDS32436.1																																																																																				0.612	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1		NM_173502		14	41	0	0	0	0.001855	0	14	41		
ITGAM	3684	broad.mit.edu	37	16	31288291	31288291	+	Silent	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:31288291C>G	ENST00000287497.8	+	11	1209	c.1134C>G	c.(1132-1134)gtC>gtG	p.V378V	ITGAM_ENST00000544665.3_Silent_p.V378V			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	378					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTGGTGGAGTCTTTCTATATA	0.498																																						uc002ebq.2		NaN																	0				kidney(1)	1						c.(1132-1134)GTC>GTG		integrin alpha M isoform 2 precursor							60.0	58.0	58.0					16																	31288291		1938	4152	6090	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31288291C>G	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1134C>G	16.37:g.31288291C>G						ITGAM_uc002ebr.2_Silent_p.V378V|ITGAM_uc010cam.1_Silent_p.V29V	p.V378V	NM_000632	NP_000623	P11215	ITAM_HUMAN			11	1232	+			378			FG-GAP 3.|Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1134C>G	CCDS45470.1																																																																																				0.498	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1		NM_000632		12	18	0	0	0	0.000978	0	12	18		
COQ9	57017	broad.mit.edu	37	16	57492236	57492236	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:57492236C>G	ENST00000262507.6	+	6	754	c.685C>G	c.(685-687)Cat>Gat	p.H229D	COQ9_ENST00000567933.1_Intron|AC009052.12_ENST00000567090.1_RNA|COQ9_ENST00000567072.1_Missense_Mutation_p.H194D	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	229					mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGACATGTGGCATTACGCTGG	0.547																																						uc002elq.2		NaN																	0				breast(1)	1						c.(685-687)CAT>GAT		coenzyme Q9 homolog precursor							105.0	72.0	83.0					16																	57492236		2198	4300	6498	SO:0001583	missense	57017				ubiquinone biosynthetic process	mitochondrion		g.chr16:57492236C>G	BC064946	CCDS32459.1	16q13	2013-10-18	2013-10-18	2006-01-13	ENSG00000088682	ENSG00000088682			25302	protein-coding gene	gene with protein product		612837	"""chromosome 16 open reading frame 49"", ""coenzyme Q9 homolog (yeast)"", ""coenzyme Q9 homolog (S. cerevisiae)"""	C16orf49		19375058	Standard	NM_020312		Approved	DKFZP434K046	uc002elq.3	O75208		ENST00000262507.6:c.685C>G	16.37:g.57492236C>G	ENSP00000262507:p.His229Asp					COQ9_uc002elr.2_Missense_Mutation_p.H194D|COQ9_uc002els.2_Missense_Mutation_p.H22D	p.H229D	NM_020312	NP_064708	O75208	COQ9_HUMAN			6	701	+			229					A8K3L2|Q7L5V7|Q7Z5T6|Q8NBL4|Q9NTJ2|Q9P056	Missense_Mutation	SNP	ENST00000262507.6	37	c.685C>G	CCDS32459.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.255749	0.80135	.	.	ENSG00000088682	ENST00000262507	.	.	.	5.24	5.24	0.73138	COQ9 (1);	0.048417	0.85682	D	0.000000	T	0.73953	0.3653	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.73886	-0.3841	9	0.46703	T	0.11	-9.2156	17.8055	0.88600	0.0:1.0:0.0:0.0	.	229	O75208	COQ9_HUMAN	D	229	.	ENSP00000262507:H229D	H	+	1	0	COQ9	56049737	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.440000	0.59975	2.439000	0.82584	0.561000	0.74099	CAT		0.547	COQ9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432598.3		NM_020312		4	7	0	0	0	0.000602	0	4	7		
POLR2C	5432	broad.mit.edu	37	16	57496641	57496641	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:57496641C>T	ENST00000219252.5	+	1	343	c.5C>T	c.(4-6)cCg>cTg	p.P2L	POLR2C_ENST00000564651.1_3'UTR|AC009052.12_ENST00000567090.1_RNA	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	2					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GGCGAGATGCCGTACGCCAAC	0.652											OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002elt.1		NaN																	0					0						c.(4-6)CCG>CTG		DNA directed RNA polymerase II polypeptide C							27.0	21.0	23.0					16																	57496641		2194	4298	6492	SO:0001583	missense	5432				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr16:57496641C>T		CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.5C>T	16.37:g.57496641C>T	ENSP00000219252:p.Pro2Leu		OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1023	POLR2C_uc010vhq.1_Missense_Mutation_p.P2L	p.P2L	NM_032940	NP_116558	P19387	RPB3_HUMAN			1	91	+			2					O15161	Missense_Mutation	SNP	ENST00000219252.5	37	c.5C>T	CCDS10782.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468006	0.96257	.	.	ENSG00000102978	ENST00000219252	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	D	0.85292	0.5663	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89059	0.3461	9	0.87932	D	0	.	16.5086	0.84278	0.0:1.0:0.0:0.0	.	2;2	B7Z377;P19387	.;RPB3_HUMAN	L	2	.	ENSP00000219252:P2L	P	+	2	0	POLR2C	56054142	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.144000	0.77357	2.364000	0.80123	0.555000	0.69702	CCG		0.652	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257340.3		NM_032940		5	14	0	0	0	0.000602	0	5	14		
GPR114	221188	broad.mit.edu	37	16	57596033	57596033	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:57596033T>C	ENST00000340339.4	+	2	551	c.28T>C	c.(28-30)Tgc>Cgc	p.C10R	GPR114_ENST00000349457.3_Missense_Mutation_p.C10R|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	10					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(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CCTTTTCCTGTGCCTGTGCCT	0.552																																						uc002elx.3		NaN																	0				central_nervous_system(1)	1						c.(28-30)TGC>CGC		G protein-coupled receptor 114 precursor							88.0	78.0	81.0					16																	57596033		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57596033T>C	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.28T>C	16.37:g.57596033T>C	ENSP00000342981:p.Cys10Arg					GPR114_uc010vhr.1_Missense_Mutation_p.C10R|GPR114_uc002ely.2_Missense_Mutation_p.C10R	p.C10R	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN			2	113	+			10					B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.28T>C	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	T	10.30	1.313022	0.23908	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.28454	1.61;1.61	3.83	-0.0208	0.13954	.	0.928689	0.08925	N	0.873894	T	0.21718	0.0523	L	0.44542	1.39	0.09310	N	0.999994	P;P	0.44578	0.718;0.838	B;B	0.32864	0.154;0.154	T	0.15122	-1.0448	10	0.62326	D	0.03	.	9.5024	0.39026	0.0:0.0:0.5698:0.4302	.	10;10	B4E148;Q8IZF4	.;GP114_HUMAN	R	10	ENSP00000342981:C10R;ENSP00000290823:C10R	ENSP00000342981:C10R	C	+	1	0	GPR114	56153534	0.848000	0.29623	0.050000	0.19076	0.006000	0.05464	0.467000	0.22035	-0.031000	0.13781	0.402000	0.26972	TGC		0.552	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3		NM_153837		36	76	0	0	0	0.004289	0	36	76		
CNOT1	23019	broad.mit.edu	37	16	58621689	58621689	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:58621689G>A	ENST00000317147.5	-	4	636	c.304C>T	c.(304-306)Cag>Tag	p.Q102*	CNOT1_ENST00000569240.1_Nonsense_Mutation_p.Q102*|CNOT1_ENST00000441024.2_Nonsense_Mutation_p.Q102*	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	102					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCAACCTTCTGATAGTGCAAT	0.363																																						uc002env.2		NaN																	0				ovary(4)|central_nervous_system(2)	6						c.(304-306)CAG>TAG		CCR4-NOT transcription complex, subunit 1							99.0	99.0	99.0					16																	58621689		2198	4300	6498	SO:0001587	stop_gained	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58621689G>A	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.304C>T	16.37:g.58621689G>A	ENSP00000320949:p.Gln102*					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Nonsense_Mutation_p.Q102*|CNOT1_uc002enx.2_Nonsense_Mutation_p.Q102*|CNOT1_uc002enz.1_Intron	p.Q102*	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	4	597	-			102					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Nonsense_Mutation	SNP	ENST00000317147.5	37	c.304C>T	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	39	7.538538	0.98345	.	.	ENSG00000125107	ENST00000317147;ENST00000394200;ENST00000441024	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.1645	18.9363	0.92586	0.0:0.0:1.0:0.0	.	.	.	.	X	102	.	.	Q	-	1	0	CNOT1	57179190	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.762000	0.98944	2.476000	0.83614	0.655000	0.94253	CAG		0.363	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3		NM_016284		24	57	0	0	0	0.003954	0	24	57		
KCTD19	146212	broad.mit.edu	37	16	67323569	67323569	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:67323569G>T	ENST00000304372.5	-	16	2739	c.2684C>A	c.(2683-2685)gCc>gAc	p.A895D		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	895					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATATTTCCTGGCGAAGGGCAG	0.542																																						uc002esu.2		NaN																	0				skin(1)	1						c.(2683-2685)GCC>GAC		potassium channel tetramerisation domain							63.0	65.0	64.0					16																	67323569		1952	4168	6120	SO:0001583	missense	146212					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr16:67323569G>T	AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2684C>A	16.37:g.67323569G>T	ENSP00000305702:p.Ala895Asp					KCTD19_uc002est.2_Missense_Mutation_p.A667D|KCTD19_uc010vjj.1_Missense_Mutation_p.A638D	p.A895D	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)	16	2735	-		Ovarian(137;0.192)	895					B4DZ49|Q8N804	Missense_Mutation	SNP	ENST00000304372.5	37	c.2684C>A	CCDS42179.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.417692	0.83449	.	.	ENSG00000168676	ENST00000304372	T	0.64618	-0.11	5.65	5.65	0.86999	.	0.000000	0.56097	D	0.000030	T	0.68531	0.3011	L	0.27053	0.805	0.42842	D	0.99405	D	0.76494	0.999	D	0.66716	0.946	T	0.72286	-0.4338	10	0.87932	D	0	-17.3263	16.4436	0.83909	0.0:0.0:1.0:0.0	.	895	Q17RG1	KCD19_HUMAN	D	895	ENSP00000305702:A895D	ENSP00000305702:A895D	A	-	2	0	KCTD19	65881070	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.543000	0.67225	2.659000	0.90383	0.655000	0.94253	GCC		0.542	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422061.1		XM_085367		15	64	1	0	0.000219431	0.00245	0.000266672	15	64		
COG8	84342	broad.mit.edu	37	16	69370492	69370492	+	Silent	SNP	C	C	G	rs201091389		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:69370492C>G	ENST00000306875.4	-	2	615	c.501G>C	c.(499-501)cgG>cgC	p.R167R	NIP7_ENST00000254940.5_5'Flank|RP11-343C2.9_ENST00000563634.1_Silent_p.R42R|COG8_ENST00000562081.1_Silent_p.R167R|RP11-343C2.7_ENST00000564737.1_3'UTR|NIP7_ENST00000569637.2_5'Flank|RP11-343C2.12_ENST00000562949.1_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	167					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						AATAACTGTTCCGGACACAGG	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		18776	0.001		0.0	False		,,,				2504	0.0					uc002ewy.2		NaN																	0				ovary(1)	1						c.(499-501)CGG>CGC		component of oligomeric golgi complex 8							107.0	96.0	100.0					16																	69370492		2198	4300	6498	SO:0001819	synonymous_variant	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69370492C>G	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.501G>C	16.37:g.69370492C>G						COG8_uc002ewz.3_Silent_p.R167R	p.R167R	NM_032382	NP_115758	Q96MW5	COG8_HUMAN			2	572	-			167					Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	c.501G>C	CCDS10876.1																																																																																				0.522	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2		NM_032382		28	62	0	0	0	0.005443	0	28	62		
DDX19B	11269	broad.mit.edu	37	16	70367484	70367484	+	Silent	SNP	G	G	A	rs569358193		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:70367484G>A	ENST00000288071.6	+	12	1684	c.1439G>A	c.(1438-1440)tGa>tAa	p.*480*	DDX19B_ENST00000563206.1_Silent_p.*485*|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000393657.2_Silent_p.*371*|DDX19B_ENST00000451014.3_Silent_p.*454*|DDX19B_ENST00000355992.3_Silent_p.*449*|DDX19B_ENST00000568625.1_Silent_p.*371*|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000563392.1_Silent_p.*371*	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	0					mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				ATAGCCAACTGAGAAGCTCCA	0.537													G|||	1	0.000199681	0.0	0.0	5008	,	,		16172	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(26;382 757 1343 9728 15939)	uc002eyo.2		NaN																	0				kidney(1)	1						c.(1438-1440)TGA>TAA		DEAD (Asp-Glu-Ala-As) box polypeptide 19 isoform							87.0	89.0	88.0					16																	70367484		2198	4297	6495	SO:0001819	synonymous_variant	11269				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr16:70367484G>A	AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.1439G>A	16.37:g.70367484G>A						DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Intron|DDX19B_uc010vlv.1_Silent_p.*454*|DDX19B_uc010vlw.1_Silent_p.*371*|DDX19B_uc002eyp.2_Silent_p.*449*|DDX19B_uc002eyq.2_Silent_p.*371*|DDX19B_uc002eyr.2_Silent_p.*329*|DDX19B_uc010vlx.1_Silent_p.*329*|uc002eyt.2_Intron	p.*480*	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN			12	1568	+		Ovarian(137;0.0694)	480					B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Silent	SNP	ENST00000288071.6	37	c.1439G>A	CCDS10888.1																																																																																				0.537	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268965.3		NM_007242		130	162	0	0	0	0.00361	0	130	162		
FUK	197258	broad.mit.edu	37	16	70506488	70506488	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:70506488C>T	ENST00000288078.6	+	14	1618	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	FUK_ENST00000378912.2_Silent_p.F494F|FUK_ENST00000571514.1_5'UTR	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	462						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGAGTGAATTCTTCAAGAGGA	0.607																																						uc002eyy.2		NaN																	0				ovary(1)	1						c.(1384-1386)TTC>TTT		fucokinase							57.0	58.0	58.0					16																	70506488		1949	4148	6097	SO:0001819	synonymous_variant	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70506488C>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1386C>T	16.37:g.70506488C>T						FUK_uc010cft.2_Silent_p.F494F|FUK_uc002eyz.2_5'UTR	p.F462F	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN			14	1444	+		Ovarian(137;0.0694)	462					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.1386C>T	CCDS10891.2																																																																																				0.607	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2		NM_145059		6	17	0	0	0	0.001984	0	6	17		
COG4	25839	broad.mit.edu	37	16	70543163	70543163	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:70543163A>G	ENST00000323786.5	-	7	994	c.973T>C	c.(973-975)Ttc>Ctc	p.F325L	COG4_ENST00000393612.4_Missense_Mutation_p.F321L	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	321					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TGCTTGATGAACTTGTCTACC	0.483																																						uc002ezc.2		NaN																	0					0						c.(973-975)TTC>CTC		component of oligomeric golgi complex 4							206.0	179.0	188.0					16																	70543163		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70543163A>G	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.973T>C	16.37:g.70543163A>G	ENSP00000315775:p.Phe325Leu					COG4_uc002ezb.2_5'UTR|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Missense_Mutation_p.F325L|COG4_uc002eze.2_5'UTR	p.F325L	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			7	984	-		Ovarian(137;0.0694)	321					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.973T>C	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	A	34	5.393410	0.96009	.	.	ENSG00000103051	ENST00000323786;ENST00000338984;ENST00000393612	T;T	0.60424	0.45;0.19	5.56	5.56	0.83823	Conserved oligomeric Golgi complex, subunit 4 (2);	0.000000	0.85682	D	0.000000	T	0.73071	0.3540	M	0.67953	2.075	0.80722	D	1	D;D	0.69078	0.997;0.972	D;P	0.65573	0.936;0.794	T	0.76498	-0.2937	10	0.87932	D	0	-18.2104	15.3677	0.74535	1.0:0.0:0.0:0.0	.	320;321	Q6PIW8;Q9H9E3	.;COG4_HUMAN	L	325;321;321	ENSP00000315775:F325L;ENSP00000377236:F321L	ENSP00000315775:F325L	F	-	1	0	COG4	69100664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.937000	0.92936	2.117000	0.64856	0.533000	0.62120	TTC		0.483	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3				9	298	0	0	0	0.006214	0	9	298		
ATP2C2	9914	broad.mit.edu	37	16	84444355	84444355	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:84444355C>T	ENST00000262429.4	+	6	588	c.499C>T	c.(499-501)Cct>Tct	p.P167S	ATP2C2_ENST00000416219.2_Missense_Mutation_p.P167S|ATP2C2_ENST00000420010.2_Intron	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	167					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAAGATGGTTCCTCCAGAATG	0.507																																						uc002fhx.2		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(499-501)CCT>TCT		ATPase, Ca++ transporting, type 2C, member 2							52.0	49.0	50.0					16																	84444355		1911	4116	6027	SO:0001583	missense	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84444355C>T	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.499C>T	16.37:g.84444355C>T	ENSP00000262429:p.Pro167Ser					ATP2C2_uc010chj.2_Missense_Mutation_p.P167S|ATP2C2_uc002fhy.2_Missense_Mutation_p.P184S|ATP2C2_uc002fhz.2_Intron	p.P167S	NM_014861	NP_055676	O75185	AT2C2_HUMAN			6	588	+			167			Cytoplasmic (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	ENST00000262429.4	37	c.499C>T	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964192	0.53507	.	.	ENSG00000064270	ENST00000416219;ENST00000262429	D;D	0.88975	-2.45;-2.45	4.84	4.84	0.62591	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.086594	0.49916	D	0.000126	D	0.92414	0.7592	L	0.55213	1.73	0.36278	D	0.855572	D;D;D	0.67145	0.996;0.995;0.988	D;D;D	0.71870	0.975;0.957;0.975	D	0.93540	0.6877	10	0.37606	T	0.19	.	16.4968	0.84247	0.0:1.0:0.0:0.0	.	167;184;167	E7ES94;O75185-2;O75185	.;.;AT2C2_HUMAN	S	167	ENSP00000397925:P167S;ENSP00000262429:P167S	ENSP00000262429:P167S	P	+	1	0	ATP2C2	83001856	0.997000	0.39634	0.022000	0.16811	0.556000	0.35491	5.384000	0.66225	2.233000	0.73108	0.585000	0.79938	CCT		0.507	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1		NM_014861		23	73	0	0	0	0.002299	0	23	73		
TCF25	22980	broad.mit.edu	37	16	89962447	89962447	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr16:89962447C>T	ENST00000263346.8	+	9	1034	c.978C>T	c.(976-978)ctC>ctT	p.L326L	TCF25_ENST00000263347.7_Silent_p.L91L	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	326					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TGTTCAGTCTCACCAGTGGGG	0.632																																						uc002fpb.2		NaN																	0					0						c.(976-978)CTC>CTT		NULP1							95.0	69.0	78.0					16																	89962447		2198	4300	6498	SO:0001819	synonymous_variant	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89962447C>T	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.978C>T	16.37:g.89962447C>T						TCF25_uc002fpc.2_Silent_p.L91L	p.L326L	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	9	1060	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	326					Q2MK75|Q9UPV3	Silent	SNP	ENST00000263346.8	37	c.978C>T	CCDS10987.1																																																																																				0.632	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2		NM_014972		10	35	0	0	0	0.00245	0	10	35		
SGSM2	9905	broad.mit.edu	37	17	2264993	2264993	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:2264993G>C	ENST00000426855.2	+	3	371	c.196G>C	c.(196-198)Gac>Cac	p.D66H	SGSM2_ENST00000268989.3_Missense_Mutation_p.D66H|SGSM2_ENST00000574563.1_Missense_Mutation_p.D66H	NM_001098509.1	NP_001091979.1	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	66	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				late endosome to Golgi transport (GO:0034499)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)		Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CCTGCGCAGTGACAAGATGGC	0.607																																						uc002fun.3		NaN																	0					0						c.(196-198)GAC>CAC		RUN and TBC1 domain containing 1 isoform 2							74.0	65.0	68.0					17																	2264993		2203	4300	6503	SO:0001583	missense	9905					intracellular	Rab GTPase activator activity	g.chr17:2264993G>C	BC039204	CCDS32526.1, CCDS45570.1	17p13.3	2013-07-10	2007-08-14	2007-08-14		ENSG00000141258		"""Small G protein signaling modulators"""	29026	protein-coding gene	gene with protein product		611418	"""RUN and TBC1 domain containing 1"""	RUTBC1		9455477, 17509819, 21808068	Standard	NM_014853		Approved	KIAA0397	uc002fum.4	O43147		ENST00000426855.2:c.196G>C	17.37:g.2264993G>C	ENSP00000415107:p.Asp66His					SGSM2_uc002fum.3_Missense_Mutation_p.D66H|SGSM2_uc010vqw.1_Missense_Mutation_p.D66H	p.D66H	NM_001098509	NP_001091979	O43147	SGSM2_HUMAN		Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)	3	371	+			66			RUN.		A5LGW2|B4DH69|Q49AC2|Q6ZUY2|Q8IXU4	Missense_Mutation	SNP	ENST00000426855.2	37	c.196G>C	CCDS45570.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091563	0.76756	.	.	ENSG00000141258	ENST00000268989;ENST00000426855	T;T	0.32753	1.44;1.44	5.32	4.35	0.52113	RUN (2);	0.089701	0.85682	D	0.000000	T	0.45316	0.1336	M	0.62723	1.935	0.58432	D	0.999999	D;D;B	0.64830	0.994;0.987;0.135	P;D;B	0.62955	0.79;0.909;0.049	T	0.18777	-1.0326	10	0.16896	T	0.51	-14.3741	12.4731	0.55797	0.0807:0.0:0.9193:0.0	.	66;66;66	O43147-5;O43147;O43147-2	.;SGSM2_HUMAN;.	H	66	ENSP00000268989:D66H;ENSP00000415107:D66H	ENSP00000268989:D66H	D	+	1	0	SGSM2	2211743	0.997000	0.39634	1.000000	0.80357	0.969000	0.65631	2.042000	0.41222	2.500000	0.84329	0.462000	0.41574	GAC		0.607	SGSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438186.1		NM_014853		13	61	0	0	0	0.00245	0	13	61		
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT)	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		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)CGC>CAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							50.0	50.0	50.0					17																	7578406		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.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H	p.R175H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	718	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||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.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		52	36	0	0	0	0.00361	0	52	36		
CYB5D1	124637	broad.mit.edu	37	17	7761743	7761743	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:7761743C>T	ENST00000332439.4	+	2	335	c.183C>T	c.(181-183)atC>atT	p.I61I	LSMD1_ENST00000576384.1_5'Flank|LSMD1_ENST00000333775.5_5'Flank|LSMD1_ENST00000576861.1_Intron|CYB5D1_ENST00000570446.1_Intron|LSMD1_ENST00000335155.5_5'Flank|LSMD1_ENST00000570555.1_5'UTR|LSMD1_ENST00000575771.1_5'Flank|CYB5D1_ENST00000571846.1_Silent_p.I61I|LSMD1_ENST00000575071.1_5'Flank|LSMD1_ENST00000575208.1_5'Flank	NM_144607.4	NP_653208.2	Q6P9G0	CB5D1_HUMAN	cytochrome b5 domain containing 1	61	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.						heme binding (GO:0020037)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|skin(2)	6		all_cancers(10;0.11)|Prostate(122;0.219)				TGAAACCCATCGTGGAAGTTG	0.542											OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002gjb.3		NaN																	0				skin(1)	1						c.(181-183)ATC>ATT		cytochrome b5 domain containing 1							71.0	64.0	66.0					17																	7761743		2203	4300	6503	SO:0001819	synonymous_variant	124637						heme binding	g.chr17:7761743C>T	AK057061	CCDS11123.1	17p13.1	2006-01-12	2006-01-12						26516	protein-coding gene	gene with protein product						12477932	Standard	NM_144607		Approved	FLJ32499	uc002gjb.4	Q6P9G0		ENST00000332439.4:c.183C>T	17.37:g.7761743C>T			OREG0024147	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	LSMD1_uc002giz.2_5'Flank|LSMD1_uc002gja.2_5'Flank|CYB5D1_uc010cnn.1_Silent_p.I61I	p.I61I	NM_144607	NP_653208	Q6P9G0	CB5D1_HUMAN			2	572	+		all_cancers(10;0.11)|Prostate(122;0.219)	61			Cytochrome b5 heme-binding.		D3DTQ8|Q96DM7	Silent	SNP	ENST00000332439.4	37	c.183C>T	CCDS11123.1																																																																																				0.542	CYB5D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440841.1		NM_144607		28	31	0	0	0	0.00632	0	28	31		
GAS7	8522	broad.mit.edu	37	17	10101629	10101629	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:10101629C>T	ENST00000432992.2	-	1	239	c.79G>A	c.(79-81)Gag>Aag	p.E27K	GAS7_ENST00000540214.1_5'UTR	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	27	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GTGATCAGCTCGCCCGCGGCG	0.721			T	MLL	AML*																																	uc002gmg.1		NaN		Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				lung(1)|pancreas(1)	2						c.(79-81)GAG>AAG		growth arrest-specific 7 isoform c							17.0	19.0	18.0					17																	10101629		2162	4269	6431	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:10101629C>T	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.79G>A	17.37:g.10101629C>T	ENSP00000407552:p.Glu27Lys						p.E27K	NM_201433	NP_958839	O60861	GAS7_HUMAN			1	240	-			27			SH3.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.79G>A	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.714799	0.89112	.	.	ENSG00000007237	ENST00000323816	.	.	.	3.37	3.37	0.38596	Src homology-3 domain (4);	4.255260	0.00424	N	0.000069	T	0.67059	0.2853	M	0.79614	2.46	0.80722	D	1	P	0.51791	0.948	P	0.44394	0.448	T	0.63989	-0.6512	8	.	.	.	-19.1264	12.2492	0.54589	0.0:1.0:0.0:0.0	.	27	O60861	GAS7_HUMAN	K	27	.	.	E	-	1	0	GAS7	10042354	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.668000	0.61568	1.731000	0.51592	0.455000	0.32223	GAG		0.721	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1		NM_003644, NM_201432, NM_201433		18	56	0	0	0	0.007413	0	18	56		
TOP3A	7156	broad.mit.edu	37	17	18217940	18217940	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:18217940G>C	ENST00000321105.5	-	1	367	c.153C>G	c.(151-153)gaC>gaG	p.D51E	TOP3A_ENST00000542570.1_5'UTR|SMCR8_ENST00000406438.3_5'Flank|TOP3A_ENST00000582230.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	51	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTGACAGCAGGTCGGCGATCC	0.652																																						uc002gsx.1		NaN																	0				skin(3)	3						c.(151-153)GAC>GAG		topoisomerase (DNA) III alpha							58.0	48.0	51.0					17																	18217940		2203	4300	6503	SO:0001583	missense	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18217940G>C	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.153C>G	17.37:g.18217940G>C	ENSP00000321636:p.Asp51Glu					SMCR8_uc002gsy.3_5'Flank|TOP3A_uc010vxs.1_5'UTR|TOP3A_uc010cqa.1_RNA	p.D51E	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			1	382	-			51			Toprim.		A8KA61|B4DK80|D3DXC7|Q13473	Missense_Mutation	SNP	ENST00000321105.5	37	c.153C>G	CCDS11194.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.71|14.71	2.616033|2.616033	0.46631|0.46631	.|.	.|.	ENSG00000177302|ENSG00000177302	ENST00000321105|ENST00000412083	T|.	0.21191|.	2.02|.	5.44|5.44	1.32|1.32	0.21799|0.21799	DNA topoisomerase, type IA, core domain (1);Toprim domain (2);|.	0.090330|.	0.85682|.	D|.	0.000000|.	T|T	0.22360|0.22360	0.0539|0.0539	N|N	0.04508|0.04508	-0.205|-0.205	0.80722|0.80722	D|D	1|1	B|.	0.11235|.	0.004|.	B|.	0.17979|.	0.02|.	T|T	0.03673|0.03673	-1.1014|-1.1014	10|5	0.02654|.	T|.	1|.	-36.4809|-36.4809	6.0343|6.0343	0.19697|0.19697	0.4205:0.1259:0.4535:0.0|0.4205:0.1259:0.4535:0.0	.|.	51|.	Q13472|.	TOP3A_HUMAN|.	E|A	51|31	ENSP00000321636:D51E|.	ENSP00000321636:D51E|.	D|P	-|-	3|1	2|0	TOP3A|TOP3A	18158665|18158665	0.954000|0.954000	0.32549|0.32549	0.991000|0.991000	0.47740|0.47740	0.956000|0.956000	0.61745|0.61745	0.071000|0.071000	0.14594|0.14594	0.140000|0.140000	0.18849|0.18849	0.655000|0.655000	0.94253|0.94253	GAC|CCT		0.652	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2				14	41	0	0	0	0.00499	0	14	41		
CCDC144CP	348254	broad.mit.edu	37	17	18513444	18513444	+	IGR	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:18513444C>T								CCDC144B (3740 upstream) : TBC1D28 (24874 downstream)																							ACTCCAGTGTCCATTTTTTCT	0.418																																						uc002gub.1		NaN																	0				ovary(1)|skin(1)	2						c.(577-579)GAC>AAC		coiled-coil domain containing 144B							280.0	268.0	272.0					17																	18513444		1897	4118	6015	SO:0001628	intergenic_variant	284047							g.chr17:18513444C>T																													17.37:g.18513444C>T						CCDC144B_uc002gua.3_RNA|CCDC144B_uc010vyc.1_RNA|CCDC144B_uc002guc.1_Missense_Mutation_p.D193N	p.D193N	NM_182568	NP_872374					3	662	-									Missense_Mutation	SNP		37	c.577G>A																																																																																				0	0.418										65	474	0	0	0	0.00361	0	65	474		
RNF112	7732	broad.mit.edu	37	17	19316617	19316617	+	Silent	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:19316617A>C	ENST00000461366.1	+	5	828	c.613A>C	c.(613-615)Aga>Cga	p.R205R	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_3'UTR	NM_007148.4	NP_009079.2	Q9ULX5	RN112_HUMAN	ring finger protein 112	205	GB1/RHD3-type G.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGGCCGGCCAAGAGGAGGAGA	0.637																																						uc010vyw.1		NaN																	0				ovary(2)	2						c.(613-615)AGA>CGA		ring finger protein 112							21.0	26.0	24.0					17																	19316617		1958	4139	6097	SO:0001819	synonymous_variant	7732						GTP binding|GTPase activity|zinc ion binding	g.chr17:19316617A>C	AF054587	CCDS58529.1	17p11.2	2013-01-16	2008-06-13	2008-06-13	ENSG00000128482	ENSG00000128482		"""RING-type (C3HC4) zinc fingers"""	12968	protein-coding gene	gene with protein product		601237	"""zinc finger protein 179"""	ZNF179		8660987, 9806830	Standard	NM_007148		Approved	BFP	uc010vyw.2	Q9ULX5	OTTHUMG00000059601	ENST00000461366.1:c.613A>C	17.37:g.19316617A>C						RNF112_uc010vyu.1_3'UTR|RNF112_uc010vyv.1_Silent_p.R205R|RNF112_uc010vyx.1_Silent_p.R88R	p.R205R	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN			5	812	+			205					O60633|Q7Z5V9	Silent	SNP	ENST00000461366.1	37	c.613A>C	CCDS58529.1																																																																																				0.637	RNF112-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132549.4		NM_007148		22	50	0	0	0	0.002299	0	22	50		
SLC47A2	146802	broad.mit.edu	37	17	19618059	19618059	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:19618059G>A	ENST00000325411.5	-	3	319	c.269C>T	c.(268-270)tCg>tTg	p.S90L	SLC47A2_ENST00000350657.5_Missense_Mutation_p.S90L|SLC47A2_ENST00000463318.1_5'UTR	NM_152908.3	NP_690872.2	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	90					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antiporter activity (GO:0015297)|drug transmembrane transporter activity (GO:0015238)			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)				Aciclovir(DB00787)	GTCACATGCCGAAGACAAACC	0.567																																						uc002gwe.3		NaN																	0					0						c.(268-270)TCG>TTG		solute carrier family 47, member 2 isoform 1							220.0	206.0	211.0					17																	19618059		2203	4300	6503	SO:0001583	missense	146802					integral to membrane|plasma membrane	drug:hydrogen antiporter activity	g.chr17:19618059G>A	AB250364	CCDS11211.1, CCDS58530.1	17p11.2	2013-07-17	2013-07-17		ENSG00000180638	ENSG00000180638		"""Solute carriers"""	26439	protein-coding gene	gene with protein product	"""multidrug and toxin extrusion 2"""	609833				16996621, 16807400	Standard	NM_152908		Approved	FLJ31196, MATE2, MATE2-K	uc002gwf.4	Q86VL8	OTTHUMG00000059464	ENST00000325411.5:c.269C>T	17.37:g.19618059G>A	ENSP00000326671:p.Ser90Leu					SLC47A2_uc002gwg.3_Missense_Mutation_p.S90L|SLC47A2_uc002gwf.3_Missense_Mutation_p.S90L|SLC47A2_uc002gwh.3_RNA|SLC47A2_uc002gwi.2_RNA|SLC47A2_uc010cqs.1_RNA|SLC47A2_uc010cqt.1_RNA	p.S90L	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN			3	444	-	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)		90			Cytoplasmic (Potential).		A0JBX9|A0P8Z7|Q63HJ9|Q8IV44|Q96NA1	Missense_Mutation	SNP	ENST00000325411.5	37	c.269C>T	CCDS11211.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.617129	0.28801	.	.	ENSG00000180638	ENST00000350657;ENST00000325411;ENST00000456947;ENST00000433844	T;T;T	0.30714	1.52;1.52;1.52	5.02	4.05	0.47172	.	0.134219	0.52532	D	0.000069	T	0.32793	0.0841	M	0.72624	2.21	0.46222	D	0.998931	P;P;B	0.48016	0.904;0.904;0.332	B;B;B	0.40901	0.261;0.343;0.166	T	0.16837	-1.0389	10	0.46703	T	0.11	-10.0289	11.2595	0.49074	0.0906:0.0:0.9094:0.0	.	90;90;90	Q86VL8-3;Q86VL8-4;Q86VL8	.;.;S47A2_HUMAN	L	90;90;41;90	ENSP00000338084:S90L;ENSP00000326671:S90L;ENSP00000391848:S90L	ENSP00000326671:S90L	S	-	2	0	SLC47A2	19558651	0.998000	0.40836	0.018000	0.16275	0.040000	0.13550	3.642000	0.54367	1.117000	0.41842	0.455000	0.32223	TCG		0.567	SLC47A2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132242.2		NM_152908		65	229	0	0	0	0.00361	0	65	229		
SPECC1	92521	broad.mit.edu	37	17	20108350	20108350	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:20108350G>C	ENST00000261503.5	+	4	1039	c.988G>C	c.(988-990)Gac>Cac	p.D330H	SPECC1_ENST00000395529.3_Missense_Mutation_p.D330H|SPECC1_ENST00000395525.3_Missense_Mutation_p.D249H|SPECC1_ENST00000395522.2_Missense_Mutation_p.D249H|SPECC1_ENST00000395527.4_Missense_Mutation_p.D330H|SPECC1_ENST00000584527.1_5'Flank|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395530.2_Missense_Mutation_p.D249H	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	330	Ser-rich.			D -> N (in Ref. 5; AAH50058). {ECO:0000305}.	cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.D330N(2)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AGATGCTTCCGACTTTGAGCA	0.458																																						uc002gwq.2		NaN																	2	Substitution - Missense(2)		prostate(1)|central_nervous_system(1)		0						c.(988-990)GAC>CAC		spectrin domain with coiled-coils 1 NSP5b3b							127.0	134.0	132.0					17																	20108350		2203	4300	6503	SO:0001583	missense	92521					nucleus		g.chr17:20108350G>C	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.988G>C	17.37:g.20108350G>C	ENSP00000261503:p.Asp330His					CYTSB_uc010cqx.2_Missense_Mutation_p.D330H|CYTSB_uc002gwr.2_Missense_Mutation_p.D330H|CYTSB_uc002gws.2_Missense_Mutation_p.D330H|CYTSB_uc002gwv.2_Missense_Mutation_p.D249H|CYTSB_uc010vzf.1_Intron|CYTSB_uc002gww.2_Missense_Mutation_p.D106H|CYTSB_uc002gwt.2_Missense_Mutation_p.D249H|CYTSB_uc002gwu.2_Missense_Mutation_p.D249H	p.D330H	NM_001033553	NP_001028725	Q5M775	CYTSB_HUMAN			4	1133	+			330	D -> N (in Ref. 5; AAH50058).		Ser-rich.		B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	c.988G>C	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281824	0.80692	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.66815	-0.23;2.76;2.77;2.77	5.38	5.38	0.77491	.	0.043107	0.85682	D	0.000000	T	0.80138	0.4568	M	0.63843	1.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.993	T	0.80679	-0.1275	10	0.59425	D	0.04	-35.3493	17.0048	0.86390	0.0:0.0:1.0:0.0	.	330;249;249;330;330	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	H	330;330;330;249;249;249	ENSP00000261503:D330H;ENSP00000378900:D330H;ENSP00000378893:D249H;ENSP00000378896:D249H	ENSP00000261503:D330H	D	+	1	0	SPECC1	20048942	1.000000	0.71417	0.900000	0.35374	0.981000	0.71138	9.176000	0.94839	2.698000	0.92095	0.655000	0.94253	GAC		0.458	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1		NM_152904		7	239	0	0	0	0.006214	0	7	239		
SLC46A1	113235	broad.mit.edu	37	17	26732963	26732963	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:26732963T>G	ENST00000440501.1	-	1	265	c.170A>C	c.(169-171)tAc>tCc	p.Y57S	SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000321666.5_Missense_Mutation_p.Y57S	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	57					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GGTGCCATTGTAGCCGAGGTC	0.692																																						uc002hbf.1		NaN																	0					0						c.(169-171)TAC>TCC		proton-coupled folate transporter	Folic Acid(DB00158)						12.0	15.0	14.0					17																	26732963		1965	4130	6095	SO:0001583	missense	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26732963T>G	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.170A>C	17.37:g.26732963T>G	ENSP00000395653:p.Tyr57Ser					SLC46A1_uc002hbg.1_Missense_Mutation_p.Y57S|SLC46A1_uc010wak.1_Missense_Mutation_p.Y57S	p.Y57S	NM_080669	NP_542400	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	1	266	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		57					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Missense_Mutation	SNP	ENST00000440501.1	37	c.170A>C		.	.	.	.	.	.	.	.	.	.	t	22.1	4.249686	0.80024	.	.	ENSG00000076351	ENST00000440501;ENST00000321666	T;T	0.35789	1.33;1.29	4.75	4.75	0.60458	Major facilitator superfamily domain (1);	0.062800	0.64402	D	0.000003	T	0.48926	0.1527	.	.	.	0.45648	D	0.998575	P;D;D	0.71674	0.704;0.996;0.998	B;P;D	0.67900	0.42;0.865;0.954	T	0.54125	-0.8340	9	0.51188	T	0.08	-18.9628	2.9659	0.05908	0.1426:0.0794:0.1484:0.6296	.	57;57;57	B4DJ17;Q96NT5-2;Q96NT5	.;.;PCFT_HUMAN	S	57	ENSP00000395653:Y57S;ENSP00000318828:Y57S	ENSP00000318828:Y57S	Y	-	2	0	SLC46A1	23757090	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.893000	0.48633	2.122000	0.65172	0.529000	0.55759	TAC		0.692	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_080669		3	17	0	0	0	0.000248	0	3	17		
TRAF4	9618	broad.mit.edu	37	17	27076071	27076071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:27076071C>T	ENST00000262395.5	+	7	1018	c.889C>T	c.(889-891)Cga>Tga	p.R297*	AC010761.9_ENST00000577325.1_RNA|TRAF4_ENST00000262396.6_Intron|AC010761.10_ENST00000579468.1_RNA|TRAF4_ENST00000444415.3_Nonsense_Mutation_p.R297*	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	297					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein kinase activity (GO:0045860)|regulation of apoptotic process (GO:0042981)|respiratory gaseous exchange (GO:0007585)|respiratory tube development (GO:0030323)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	DNA binding (GO:0003677)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|WW domain binding (GO:0050699)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GGAGCTTCGGCGAGAGCTGGA	0.617																																						uc002hcs.2		NaN																	0				upper_aerodigestive_tract(1)|lung(1)	2						c.(889-891)CGA>TGA		TNF receptor-associated factor 4							56.0	54.0	55.0					17																	27076071		2203	4300	6503	SO:0001587	stop_gained	9618				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding	g.chr17:27076071C>T	X80200	CCDS11243.1	17q11-q21.3	2013-01-09			ENSG00000076604	ENSG00000076604		"""RING-type (C3HC4) zinc fingers"""	12034	protein-coding gene	gene with protein product		602464				7592751, 7490069	Standard	NM_004295		Approved	CART1, MLN62, RNF83	uc002hcs.3	Q9BUZ4	OTTHUMG00000132677	ENST00000262395.5:c.889C>T	17.37:g.27076071C>T	ENSP00000262395:p.Arg297*					TRAF4_uc002hcq.1_Intron	p.R297*	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)		7	997	+	Lung NSC(42;0.01)		297			Potential.		O75615|Q14848|Q2KJU4|Q2PJN8	Nonsense_Mutation	SNP	ENST00000262395.5	37	c.889C>T	CCDS11243.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502015	0.64298	.	.	ENSG00000076604	ENST00000262395;ENST00000444415	.	.	.	5.69	0.157	0.14915	.	0.180058	0.43416	D	0.000571	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	16.3671	0.83335	0.6373:0.3627:0.0:0.0	.	.	.	.	X	297	.	ENSP00000262395:R297X	R	+	1	2	TRAF4	24100198	0.177000	0.23109	0.781000	0.31783	0.990000	0.78478	0.408000	0.21065	0.154000	0.19237	0.655000	0.94253	CGA		0.617	TRAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255944.2		NM_145751		34	63	0	0	0	0.003271	0	34	63		
NSRP1	84081	broad.mit.edu	37	17	28506137	28506137	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:28506137A>G	ENST00000247026.5	+	5	393	c.330A>G	c.(328-330)gcA>gcG	p.A110A	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	110	Necessary for alternative splicing activity.				developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						TGCTAAAAGCAGTTGAGATCA	0.284																																						uc002heu.2		NaN																	0					0						c.(328-330)GCA>GCG		coiled-coil domain containing 55 isoform 1							25.0	26.0	26.0					17																	28506137		2190	4286	6476	SO:0001819	synonymous_variant	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28506137A>G	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	ENST00000247026.5:c.330A>G	17.37:g.28506137A>G						CCDC55_uc002hev.2_Silent_p.A56A|CCDC55_uc010wbl.1_Silent_p.A56A|CCDC55_uc010wbm.1_Silent_p.A56A|CCDC55_uc002hex.2_Silent_p.A56A	p.A110A	NM_032141	NP_115517	Q9H0G5	NSRP1_HUMAN			5	358	+			110			Necessary for alternative splicing activity.|Potential.		Q6FI71	Silent	SNP	ENST00000247026.5	37	c.330A>G	CCDS11255.1																																																																																				0.284	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2		NM_032141		7	17	0	0	0	0.006214	0	7	17		
RHBDL3	162494	broad.mit.edu	37	17	30632423	30632423	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:30632423A>G	ENST00000269051.4	+	7	859	c.845A>G	c.(844-846)tAt>tGt	p.Y282C	RHBDL3_ENST00000538145.1_Missense_Mutation_p.Y274C|RHBDL3_ENST00000536287.1_Missense_Mutation_p.Y184C	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	282						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GGAGGGGTGTATGCTCTCGTC	0.567																																						uc002hhe.1		NaN																	0				ovary(1)	1						c.(844-846)TAT>TGT		rhomboid protease 3							196.0	156.0	170.0					17																	30632423		2203	4300	6503	SO:0001583	missense	162494				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	g.chr17:30632423A>G	AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.845A>G	17.37:g.30632423A>G	ENSP00000269051:p.Tyr282Cys					RHBDL3_uc010csw.1_Missense_Mutation_p.Y274C|RHBDL3_uc010csx.1_Intron|RHBDL3_uc010csy.1_Missense_Mutation_p.Y184C|RHBDL3_uc002hhf.1_Missense_Mutation_p.Y184C	p.Y282C	NM_138328	NP_612201	P58872	RHBL3_HUMAN			7	859	+		Breast(31;0.116)|Ovarian(249;0.182)	282			Helical; (Potential).		A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	c.845A>G	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596403	0.86953	.	.	ENSG00000141314	ENST00000269051;ENST00000538145;ENST00000536287	T;T;T	0.13420	2.59;2.59;2.59	6.02	6.02	0.97574	Peptidase S54, rhomboid domain (1);	0.000000	0.85682	D	0.000000	T	0.40932	0.1137	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.33854	-0.9852	10	0.87932	D	0	.	14.7719	0.69684	1.0:0.0:0.0:0.0	.	274;282	Q495Y5;P58872	.;RHBL3_HUMAN	C	282;274;184	ENSP00000269051:Y282C;ENSP00000442092:Y274C;ENSP00000466508:Y184C	ENSP00000269051:Y282C	Y	+	2	0	RHBDL3	27656536	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.135000	0.89608	2.304000	0.77564	0.528000	0.53228	TAT		0.567	RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1		NM_138328		37	97	0	0	0	0.004878	0	37	97		
MMP28	79148	broad.mit.edu	37	17	34105915	34105915	+	Missense_Mutation	SNP	C	C	A	rs368472692		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:34105915C>A	ENST00000250144.8	-	3	685	c.356G>T	c.(355-357)cGt>cTt	p.R119L		NM_001032278.1	NP_001027449.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 28	119					negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|lung(7)|ovary(1)|skin(5)	16		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	Marimastat(DB00786)	GCGTTTCTTACGCCTCATTTT	0.507																																						uc002hjy.1		NaN																	0				skin(1)	1						c.(355-357)CGT>CTT		matrix metalloproteinase 28 isoform 1							110.0	113.0	112.0					17																	34105915		2052	4203	6255	SO:0001583	missense	79148				proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr17:34105915C>A	AF315683	CCDS45651.1, CCDS74036.1	17q12	2014-08-12	2005-08-08		ENSG00000271447	ENSG00000271447			14366	protein-coding gene	gene with protein product		608417	"""matrix metalloproteinase 28"""			11121398, 11255011	Standard	NM_024302		Approved	MMP-25, MM28, EPILYSIN, MMP-28	uc002hjy.1	Q9H239	OTTHUMG00000188387	ENST00000250144.8:c.356G>T	17.37:g.34105915C>A	ENSP00000250144:p.Arg119Leu					MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA|MMP28_uc002hka.2_Missense_Mutation_p.R119L	p.R119L	NM_024302	NP_077278	Q9H239	MMP28_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	3	615	-		Ovarian(249;0.17)	119					Q96F04|Q96TE2	Missense_Mutation	SNP	ENST00000250144.8	37	c.356G>T	CCDS45651.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.526444	0.64860	.	.	ENSG00000129270	ENST00000338839;ENST00000538544;ENST00000250144	T	0.69806	-0.43	5.27	4.24	0.50183	Metallopeptidase, catalytic domain (1);	3.359460	0.01717	U	0.028048	T	0.61035	0.2315	.	.	.	0.27300	N	0.957605	P;B	0.45011	0.848;0.143	B;B	0.39562	0.303;0.065	T	0.56251	-0.8010	9	0.62326	D	0.03	.	9.4691	0.38831	0.2651:0.7349:0.0:0.0	.	119;119	Q9H239-2;Q9H239	.;MMP28_HUMAN	L	119	ENSP00000250144:R119L	ENSP00000250144:R119L	R	-	2	0	MMP28	31130028	0.994000	0.37717	1.000000	0.80357	0.994000	0.84299	3.290000	0.51755	2.465000	0.83290	0.650000	0.86243	CGT		0.507	MMP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449269.1		NM_024302		37	104	1	0	4.90274e-10	0.00623	6.17001e-10	37	104		
CCL14	6358	broad.mit.edu	37	17	34310878	34310878	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:34310878T>C	ENST00000394509.4	-	3	349	c.241A>G	c.(241-243)Aag>Gag	p.K81E	CCL16_ENST00000293275.3_5'Flank|CCL14_ENST00000480944.2_Missense_Mutation_p.K103E|CTB-186H2.3_ENST00000591669.1_5'Flank|CCL14_ENST00000435911.2_Missense_Mutation_p.K97E|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000536149.1_Missense_Mutation_p.K97E|CCL15-CCL14_ENST00000481427.2_3'UTR|CCL14_ENST00000586216.1_3'UTR			Q16627	CCL14_HUMAN	chemokine (C-C motif) ligand 14	81					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)	extracellular space (GO:0005615)				large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGACCCACTTGTCACTGGGG	0.547																																						uc010wcr.1		NaN																	0					0						c.(241-243)AAG>GAG		chemokine (C-C motif) ligand 14 isoform 1							150.0	119.0	130.0					17																	34310878		2203	4300	6503	SO:0001583	missense	6358				cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	g.chr17:34310878T>C	Z49270	CCDS32624.1, CCDS45652.1	17q11.2	2014-04-10	2002-08-22	2002-08-23	ENSG00000213494	ENSG00000276409		"""Chemokine ligands"", ""Endogenous ligands"""	10612	protein-coding gene	gene with protein product		601392	"""small inducible cytokine subfamily A (Cys-Cys), member 14"""	SCYA14		8661057	Standard	NM_032963		Approved	HCC-1, HCC-3, NCC-2, SCYL2, CKb1, MCIF	uc010wcq.1	Q16627	OTTHUMG00000188403	ENST00000394509.4:c.241A>G	17.37:g.34310878T>C	ENSP00000378017:p.Lys81Glu					CCL16_uc002hkl.2_5'Flank|CCL16_uc002hkm.2_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.K97E|CCL14_uc002hkn.2_RNA|CCL14-CCL15_uc010wcs.1_RNA|CCL14-CCL15_uc010wct.1_RNA|uc002hkq.2_5'Flank	p.K81E	NM_032963	NP_116739	Q16627	CCL14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	3	320	-		Ovarian(249;0.17)	81					E1P649|E1P650|Q13954	Missense_Mutation	SNP	ENST00000394509.4	37	c.241A>G	CCDS32624.1	.	.	.	.	.	.	.	.	.	.	t	3.553	-0.091322	0.07053	.	.	ENSG00000213494	ENST00000394509;ENST00000536149;ENST00000435911	T;T;T	0.05258	3.47;3.47;3.47	4.92	-2.96	0.05547	Chemokine interleukin-8-like domain (3);	2.966370	0.02687	U	0.110268	T	0.04048	0.0113	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.41645	-0.9497	9	0.18276	T	0.48	.	7.4451	0.27207	0.0:0.5857:0.1226:0.2917	.	81;97	Q16627;Q16627-2	CCL14_HUMAN;.	E	81;97;97	ENSP00000378017:K81E;ENSP00000441771:K97E;ENSP00000409197:K97E	ENSP00000378017:K81E	K	-	1	0	CCL14	31334991	0.000000	0.05858	0.000000	0.03702	0.031000	0.12232	0.096000	0.15147	-0.509000	0.06532	-2.323000	0.00251	AAG		0.547	CCL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272892.2		NM_032962		32	102	0	0	0	0.003271	0	32	102		
CDC6	990	broad.mit.edu	37	17	38458227	38458227	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:38458227A>G	ENST00000209728.4	+	12	2128	c.1657A>G	c.(1657-1659)Aat>Gat	p.N553D	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	553					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TTTAATTGGAAATATCTTAGC	0.363																																						uc002huj.1		NaN																	0				ovary(2)|breast(1)	3						c.(1657-1659)AAT>GAT		cell division cycle 6 protein							109.0	113.0	112.0					17																	38458227		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38458227A>G	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1657A>G	17.37:g.38458227A>G	ENSP00000209728:p.Asn553Asp						p.N553D	NM_001254	NP_001245	Q99741	CDC6_HUMAN			12	1867	+			553					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.1657A>G	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	A	14.94	2.684605	0.47991	.	.	ENSG00000094804	ENST00000209728	T	0.40225	1.04	5.76	4.66	0.58398	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.376195	0.31760	N	0.007116	T	0.32436	0.0829	L	0.44542	1.39	0.34702	D	0.726813	B	0.25007	0.116	B	0.20767	0.031	T	0.35574	-0.9783	10	0.12430	T	0.62	-2.1761	12.3863	0.55335	0.859:0.141:0.0:0.0	.	553	Q99741	CDC6_HUMAN	D	553	ENSP00000209728:N553D	ENSP00000209728:N553D	N	+	1	0	CDC6	35711753	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	6.689000	0.74562	1.091000	0.41335	0.533000	0.62120	AAT		0.363	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1				48	131	0	0	0	0.00361	0	48	131		
TOP2A	7153	broad.mit.edu	37	17	38567656	38567656	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:38567656C>T	ENST00000423485.1	-	9	1173	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	339					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTCACAACATCAACAAGTTTA	0.358																																						uc002huq.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1015-1017)GAT>AAT		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						194.0	182.0	185.0					17																	38567656		1907	4127	6034	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38567656C>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1015G>A	17.37:g.38567656C>T	ENSP00000411532:p.Asp339Asn					TOP2A_uc002hur.1_5'UTR	p.D339N	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		9	1141	-		Breast(137;0.00328)	339					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.1015G>A	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608873	0.66558	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.21734	1.99	5.43	5.43	0.79202	Ribosomal protein S5 domain 2-type fold (1);DNA topoisomerase, type IIA, subunit B, domain 2 (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.163596	0.56097	D	0.000034	T	0.16896	0.0406	L	0.28014	0.82	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.09164	-1.0687	10	0.10377	T	0.69	.	19.5983	0.95549	0.0:1.0:0.0:0.0	.	339	P11388	TOP2A_HUMAN	N	339;338;338;375	ENSP00000411532:D339N	ENSP00000269577:D338N	D	-	1	0	TOP2A	35821182	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.979000	0.70508	2.704000	0.92352	0.650000	0.86243	GAT		0.358	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1				58	287	0	0	0	0.00361	0	58	287		
KRTAP1-5	83895	broad.mit.edu	37	17	39183134	39183134	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:39183134C>T	ENST00000361883.5	-	1	320	c.274G>A	c.(274-276)Gga>Aga	p.G92R		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	92	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CAGCCAGTTCCGCAGGAGCTG	0.627																																						uc002hvu.2		NaN																	0					0						c.(274-276)GGA>AGA		keratin associated protein 1.5							24.0	28.0	27.0					17																	39183134		2072	4209	6281	SO:0001583	missense	83895					keratin filament		g.chr17:39183134C>T	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.274G>A	17.37:g.39183134C>T	ENSP00000355302:p.Gly92Arg						p.G92R	NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	321	-		Breast(137;0.00043)	92			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.274G>A	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.909817	0.00508	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.29397	1.57	2.58	1.58	0.23477	.	.	.	.	.	T	0.12518	0.0304	N	0.13168	0.305	0.09310	N	1	B	0.27971	0.196	B	0.23716	0.048	T	0.30060	-0.9991	9	0.02654	T	1	.	5.5913	0.17303	0.0:0.8394:0.0:0.1606	.	92	Q9BYS1	KRA15_HUMAN	R	92;82	ENSP00000355302:G92R	ENSP00000355302:G92R	G	-	1	0	KRTAP1-5	36436660	0.017000	0.18338	0.002000	0.10522	0.012000	0.07955	-0.432000	0.06956	0.639000	0.30564	0.491000	0.48974	GGA		0.627	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1				7	62	0	0	0	0.001984	0	7	62		
JUP	3728	broad.mit.edu	37	17	39925391	39925391	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:39925391C>T	ENST00000393931.3	-	4	655	c.537G>A	c.(535-537)ctG>ctA	p.L179L	JUP_ENST00000540235.1_Silent_p.L179L|JUP_ENST00000310706.5_Silent_p.L179L|JUP_ENST00000393930.1_Silent_p.L179L	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	179	Interaction with DSC1 and DSG1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCGAGCCCATCAGGGCCCGCC	0.657																																					Colon(16;42 520 6044 17852 28530)	uc002hxq.2		NaN																	0				ovary(2)|lung(2)|breast(1)	5						c.(535-537)CTG>CTA		junction plakoglobin							37.0	36.0	36.0					17																	39925391		2203	4300	6503	SO:0001819	synonymous_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39925391C>T	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.537G>A	17.37:g.39925391C>T						JUP_uc010wfs.1_Silent_p.L179L|JUP_uc002hxr.2_Silent_p.L179L|JUP_uc002hxs.2_Silent_p.L179L	p.L179L	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	4	814	-		Breast(137;0.000162)	179					Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	c.537G>A	CCDS11407.1																																																																																				0.657	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1				16	42	0	0	0	0.004007	0	16	42		
ACLY	47	broad.mit.edu	37	17	40025748	40025748	+	Silent	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:40025748T>A	ENST00000352035.2	-	26	3160	c.3030A>T	c.(3028-3030)gtA>gtT	p.V1010V	ACLY_ENST00000588779.1_5'UTR|ACLY_ENST00000590151.1_Silent_p.V1010V|ACLY_ENST00000353196.1_Silent_p.V1000V|ACLY_ENST00000393896.2_Silent_p.V1000V|ACLY_ENST00000537919.1_Silent_p.V739V	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	1010					ATP catabolic process (GO:0006200)|cellular carbohydrate metabolic process (GO:0044262)|cellular lipid metabolic process (GO:0044255)|citrate metabolic process (GO:0006101)|coenzyme A metabolic process (GO:0015936)|energy reserve metabolic process (GO:0006112)|lipid biosynthetic process (GO:0008610)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	citrate lyase complex (GO:0009346)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TAATCTTCTCTACTTCCAGTG	0.438																																					Colon(64;807 1396 15971 30971)	uc002hyg.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(3028-3030)GTA>GTT		ATP citrate lyase isoform 1							169.0	152.0	158.0					17																	40025748		2203	4300	6503	SO:0001819	synonymous_variant	47				ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity	g.chr17:40025748T>A	X64330	CCDS11412.1, CCDS11413.1	17q21.2	2010-04-27			ENSG00000131473	ENSG00000131473	2.3.3.8		115	protein-coding gene	gene with protein product	"""ATP citrate synthase"""	108728				1371749, 8088842	Standard	NM_001096		Approved	ATPCL, CLATP, ACL	uc002hyg.3	P53396	OTTHUMG00000133507	ENST00000352035.2:c.3030A>T	17.37:g.40025748T>A						ACLY_uc002hyh.2_Silent_p.V1000V|ACLY_uc002hyi.2_Silent_p.V1064V|ACLY_uc010wfx.1_Silent_p.V1054V|ACLY_uc010wfy.1_Silent_p.V739V	p.V1010V	NM_001096	NP_001087	P53396	ACLY_HUMAN			26	3193	-		Breast(137;0.000143)	1010					B4DIM0|B4E3P0|Q13037|Q9BRL0	Silent	SNP	ENST00000352035.2	37	c.3030A>T	CCDS11412.1																																																																																				0.438	ACLY-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257465.1		NM_001096		45	107	0	0	0	0.00361	0	45	107		
WNK4	65266	broad.mit.edu	37	17	40947024	40947024	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:40947024C>T	ENST00000246914.5	+	14	2606	c.2585C>T	c.(2584-2586)cCa>cTa	p.P862L		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	862					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ACCAGCTCTCCACTTCCATTC	0.582																																					Esophageal Squamous(6;201 374 4964 23855 42828)	uc002ibj.2		NaN																	0				ovary(3)|skin(3)|stomach(1)	7						c.(2584-2586)CCA>CTA		WNK lysine deficient protein kinase 4							162.0	146.0	151.0					17																	40947024		2203	4300	6503	SO:0001583	missense	65266				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	g.chr17:40947024C>T	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2585C>T	17.37:g.40947024C>T	ENSP00000246914:p.Pro862Leu					WNK4_uc010wgx.1_Missense_Mutation_p.P526L|WNK4_uc002ibk.1_Missense_Mutation_p.P634L	p.P862L	NM_032387	NP_115763	Q96J92	WNK4_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0749)	14	2606	+		Breast(137;0.000143)	862					B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	37	c.2585C>T	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	7.462	0.644934	0.14451	.	.	ENSG00000126562	ENST00000246914	T	0.23348	1.91	5.78	1.6	0.23607	.	0.481412	0.17643	N	0.166955	T	0.10809	0.0264	N	0.08118	0	0.34186	D	0.671455	B;B;B	0.14805	0.011;0.007;0.003	B;B;B	0.17098	0.017;0.007;0.007	T	0.34079	-0.9843	10	0.07482	T	0.82	0.2666	9.9601	0.41691	0.0:0.7211:0.0:0.2789	.	862;862;862	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	L	862	ENSP00000246914:P862L	ENSP00000246914:P862L	P	+	2	0	WNK4	38200550	0.003000	0.15002	0.054000	0.19295	0.136000	0.21042	0.043000	0.13971	0.158000	0.19367	-0.218000	0.12543	CCA		0.582	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1				51	121	0	0	0	0.00361	0	51	121		
EFCAB13	124989	broad.mit.edu	37	17	45455230	45455230	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:45455230G>A	ENST00000331493.2	+	13	1882	c.1471G>A	c.(1471-1473)Gaa>Aaa	p.E491K	EFCAB13_ENST00000517484.1_Missense_Mutation_p.E395K	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	491	EF-hand 1.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)										TTTATTAGATGAAGAATTCCA	0.323																																						uc002iln.2		NaN																	0				breast(1)|central_nervous_system(1)|skin(1)	3						c.(1471-1473)GAA>AAA		hypothetical protein LOC124989							52.0	56.0	54.0					17																	45455230		2203	4293	6496	SO:0001583	missense	124989						calcium ion binding	g.chr17:45455230G>A	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1471G>A	17.37:g.45455230G>A	ENSP00000332111:p.Glu491Lys					C17orf57_uc002ilm.2_Missense_Mutation_p.E395K|C17orf57_uc010daz.1_Missense_Mutation_p.E443K	p.E491K	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			13	1882	+			491			EF-hand 1.		G3V128|Q49AG9	Missense_Mutation	SNP	ENST00000331493.2	37	c.1471G>A	CCDS11512.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.316609	0.23908	.	.	ENSG00000178852	ENST00000331493;ENST00000517484;ENST00000344176;ENST00000523842	T;T;T	0.65549	0.26;-0.16;0.8	3.51	-0.805	0.10879	EF-hand-like domain (1);	0.786678	0.11502	N	0.557542	T	0.26629	0.0651	N	0.00926	-1.1	0.21841	N	0.999519	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.24048	-1.0171	10	0.23302	T	0.38	-5.5518	7.2072	0.25913	0.3723:0.0:0.6277:0.0	.	443;491;395	Q8N7U2;Q8IY85;G3V128	.;CQ057_HUMAN;.	K	491;395;443;17	ENSP00000332111:E491K;ENSP00000430048:E395K;ENSP00000429566:E17K	ENSP00000332111:E491K	E	+	1	0	C17orf57	42810229	0.415000	0.25416	0.940000	0.37924	0.538000	0.34931	-0.149000	0.10204	-0.024000	0.13941	-0.501000	0.04562	GAA		0.323	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4		NM_152347		22	71	0	0	0	0.00278	0	22	71		
SPATA20	64847	broad.mit.edu	37	17	48628506	48628506	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:48628506C>T	ENST00000356488.4	+	11	1566	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W	SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.R451W|SPATA20_ENST00000006658.6_Missense_Mutation_p.R511W	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	495					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CCGGAAGCATCGGCCCAAGCC	0.627											OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002irf.2		NaN																	0					0						c.(1483-1485)CGG>TGG		spermatogenesis associated 20							18.0	17.0	17.0					17																	48628506		2199	4297	6496	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48628506C>T		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1483C>T	17.37:g.48628506C>T	ENSP00000348878:p.Arg495Trp		OREG0024568	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	119	SPATA20_uc002irc.2_Missense_Mutation_p.R162W|SPATA20_uc002ire.2_Missense_Mutation_p.R451W|SPATA20_uc002ird.2_Missense_Mutation_p.R511W|SPATA20_uc002irg.2_RNA	p.R495W	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		11	1624	+	Breast(11;1.23e-18)		495					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.1483C>T	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628248	0.87560	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.36699	1.24;1.24;1.24	5.95	3.91	0.45181	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.67850	0.2937	M	0.91140	3.18	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76924	-0.2779	10	0.87932	D	0	-17.8468	15.7947	0.78401	0.2249:0.7751:0.0:0.0	.	495;511	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	W	511;495;451	ENSP00000006658:R511W;ENSP00000348878:R495W;ENSP00000376935:R451W	ENSP00000006658:R511W	R	+	1	2	SPATA20	45983505	0.998000	0.40836	0.984000	0.44739	0.990000	0.78478	3.891000	0.56227	0.802000	0.34089	0.655000	0.94253	CGG		0.627	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1		NM_022827		5	21	0	0	0	0.000602	0	5	21		
SRSF1	6426	broad.mit.edu	37	17	56082801	56082801	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:56082801G>A	ENST00000258962.4	-	4	921	c.713C>T	c.(712-714)tCt>tTt	p.S238F	SRSF1_ENST00000581497.1_5'Flank|SRSF1_ENST00000582730.2_3'UTR|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000584773.1_Missense_Mutation_p.S238F|SRSF1_ENST00000585096.1_Intron	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	238	Arg/Ser-rich (RS domain).|Interacts with SAFB1.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATGACGGGGAGAATAGCGTGG	0.468																																						uc002ivi.2		NaN																	0					0						c.(712-714)TCT>TTT		splicing factor, arginine/serine-rich 1 isoform							211.0	187.0	195.0					17																	56082801		2203	4300	6503	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56082801G>A		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.713C>T	17.37:g.56082801G>A	ENSP00000258962:p.Ser238Phe					SFRS1_uc002ivj.2_3'UTR	p.S238F	NM_006924	NP_008855	Q07955	SRSF1_HUMAN		LUAD - Lung adenocarcinoma(1115;0.247)	4	922	-		Colorectal(1115;0.0691)	238	Missing: In RS-C; loss of ability to activate splicing but retains splice site switching.|Missing: In MR-A; loss of ability to activate splicing.|Missing: In MR-B; strongly inhibits splicing.|Missing: In RS-B; retains both splice activation and splice site switching activity.		Arg/Ser-rich (RS domain).|Interacts with SAFB1.		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.713C>T	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450563	0.26074	.	.	ENSG00000136450	ENST00000258962	T	0.35605	1.3	5.65	5.65	0.86999	.	0.413349	0.24393	N	0.038912	T	0.56337	0.1978	M	0.62723	1.935	0.80722	D	1	D	0.55605	0.972	P	0.58013	0.831	T	0.56420	-0.7982	10	0.87932	D	0	.	20.1057	0.97893	0.0:0.0:1.0:0.0	.	238	Q07955	SRSF1_HUMAN	F	238	ENSP00000258962:S238F	ENSP00000258962:S238F	S	-	2	0	SRSF1	53437800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.282000	0.95840	2.827000	0.97445	0.650000	0.86243	TCT		0.468	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1		NM_006924		57	178	0	0	0	0.00361	0	57	178		
CLTC	1213	broad.mit.edu	37	17	57763022	57763022	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:57763022A>C	ENST00000269122.3	+	30	4954	c.4680A>C	c.(4678-4680)gaA>gaC	p.E1560D	CLTC_ENST00000579456.1_Missense_Mutation_p.E497D|CLTC_ENST00000393043.1_Missense_Mutation_p.E1560D	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1560	Heavy chain arm.|Proximal segment.|Trimerization. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTTGCAGGAAGAAAAAAGAG	0.398			T	"""ALK, TFE3"""	"""ALCL, renal """																																	uc002ixq.1		NaN		Dom	yes		17	17q11-qter	1213	T	"""clathrin, heavy polypeptide (Hc)"""			L	ALK|TFE3		ALCL|renal 	CLTC/ALK(44)|CLTC/TFE3(2)	0				haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1)	48						c.(4678-4680)GAA>GAC		clathrin heavy chain 1							135.0	135.0	135.0					17																	57763022		2203	4300	6503	SO:0001583	missense	1213				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity	g.chr17:57763022A>C	X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.4680A>C	17.37:g.57763022A>C	ENSP00000269122:p.Glu1560Asp					CLTC_uc002ixp.2_Missense_Mutation_p.E1560D|CLTC_uc002ixr.1_Missense_Mutation_p.E1564D	p.E1560D	NM_004859	NP_004850	Q00610	CLH1_HUMAN			30	5123	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		1560			Heavy chain arm.|Proximal segment.|Trimerization (By similarity).		D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	ENST00000269122.3	37	c.4680A>C	CCDS32696.1	.	.	.	.	.	.	.	.	.	.	A	11.20	1.568046	0.28003	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.20332	2.08;2.08	4.96	4.96	0.65561	.	0.047441	0.85682	D	0.000000	T	0.14874	0.0359	L	0.37630	1.12	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.23852	0.049;0.006	T	0.09975	-1.0650	10	0.12430	T	0.62	.	7.4845	0.27425	0.8286:0.0:0.1714:0.0	.	1560;1560	Q00610;Q00610-2	CLH1_HUMAN;.	D	1560	ENSP00000269122:E1560D;ENSP00000376763:E1560D	ENSP00000269122:E1560D	E	+	3	2	CLTC	55117804	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.545000	0.45769	1.992000	0.58205	0.377000	0.23210	GAA		0.398	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258859.1		NM_004859		38	110	0	0	0	0.007835	0	38	110		
CSHL1	1444	broad.mit.edu	37	17	61987572	61987572	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:61987572C>T	ENST00000309894.5	-	4	420	c.421G>A	c.(421-423)Gac>Aac	p.D141N	CSHL1_ENST00000438387.2_Missense_Mutation_p.D58N|CSHL1_ENST00000346606.6_Missense_Mutation_p.D47N|CSHL1_ENST00000259003.10_Missense_Mutation_p.D79N|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_Missense_Mutation_p.D47N|CSHL1_ENST00000561003.1_Missense_Mutation_p.D58N|CSHL1_ENST00000392824.4_3'UTR	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	141			D -> E (in dbSNP:rs2727307). {ECO:0000269|PubMed:15489334}.			extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						AGGTGATAGTCATCGCTGTCC	0.592																																						uc002jda.1		NaN																	0					0						c.(421-423)GAC>AAC		chorionic somatomammotropin hormone-like 1							90.0	78.0	82.0					17																	61987572		2203	4300	6503	SO:0001583	missense	1444					extracellular region	hormone activity|metal ion binding	g.chr17:61987572C>T	BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.421G>A	17.37:g.61987572C>T	ENSP00000309524:p.Asp141Asn					CSHL1_uc002jcz.1_Missense_Mutation_p.D118N|CSHL1_uc002jdb.1_Missense_Mutation_p.D47N|CSHL1_uc002jdc.1_Missense_Mutation_p.D58N|CSHL1_uc002jdd.1_Missense_Mutation_p.D79N|CSHL1_uc002jde.2_3'UTR|CSHL1_uc002jdf.2_Missense_Mutation_p.D58N|CSHL1_uc002jdg.2_3'UTR|CSHL1_uc002jdh.2_Missense_Mutation_p.D47N	p.D141N	NM_022579	NP_072101	Q14406	CSHL_HUMAN			4	483	-			141					D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	c.421G>A	CCDS11652.1	.	.	.	.	.	.	.	.	.	.	c	10.83	1.462519	0.26248	.	.	ENSG00000204414	ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606;ENST00000450719	D;D;D	0.90197	-2.63;-2.63;-2.63	2.85	1.86	0.25419	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.304551	0.31145	N	0.008174	D	0.84786	0.5549	L	0.29908	0.895	0.80722	D	1	B;P;P;P	0.41643	0.116;0.714;0.758;0.714	B;B;B;B	0.43838	0.059;0.306;0.433;0.417	T	0.82161	-0.0594	10	0.87932	D	0	.	7.9022	0.29742	0.0:0.8672:0.0:0.1328	.	47;58;141;118	Q14406-4;Q14406-3;Q14406;Q14406-2	.;.;CSHL_HUMAN;.	N	141;58;136;47;136	ENSP00000309524:D141N;ENSP00000402632:D58N;ENSP00000316360:D47N	ENSP00000259003:D136N	D	-	1	0	GH1	59341304	1.000000	0.71417	0.094000	0.20943	0.000000	0.00434	0.810000	0.27183	0.536000	0.28733	-0.680000	0.03767	GAC		0.592	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1		NM_022579		38	84	0	0	0	0.002222	0	38	84		
RGS9	8787	broad.mit.edu	37	17	63156668	63156668	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:63156668G>A	ENST00000262406.9	+	5	394	c.327G>A	c.(325-327)tgG>tgA	p.W109*	RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Nonsense_Mutation_p.W109*|RGS9_ENST00000449996.3_Nonsense_Mutation_p.W109*	NM_003835.3	NP_003826.2	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	109					dopamine receptor signaling pathway (GO:0007212)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to estrogen (GO:0043627)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGTATTTCTGGCCCACCCAGC	0.468																																						uc002jfe.2		NaN																	0				ovary(2)|skin(2)	4						c.(325-327)TGG>TGA		regulator of G-protein signaling 9 isoform 1							113.0	110.0	111.0					17																	63156668		1926	4114	6040	SO:0001587	stop_gained	8787				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr17:63156668G>A	AF071476	CCDS42373.1, CCDS45764.1	17q24	2008-07-18	2007-08-14			ENSG00000108370		"""Regulators of G-protein signaling"""	10004	protein-coding gene	gene with protein product	"""regulator of G protein signalling 9"", ""regulator of G protein signalling 9L"", ""regulator of G-protein signaling 9L"""	604067	"""regulator of G-protein signalling 9"""			9765512	Standard	NM_003835		Approved	PERRS, RGS9L, MGC26458, MGC111763	uc002jfe.3	O75916		ENST00000262406.9:c.327G>A	17.37:g.63156668G>A	ENSP00000262406:p.Trp109*					RGS9_uc010dem.2_Nonsense_Mutation_p.W109*|RGS9_uc002jfd.2_Nonsense_Mutation_p.W109*|RGS9_uc002jff.2_RNA	p.W109*	NM_003835	NP_003826	O75916	RGS9_HUMAN			5	437	+			109					A8K3C0|O75573|Q696R2|Q8TD64|Q8TD65|Q9HC32|Q9HC33	Nonsense_Mutation	SNP	ENST00000262406.9	37	c.327G>A	CCDS42373.1	.	.	.	.	.	.	.	.	.	.	G	37	6.386150	0.97524	.	.	ENSG00000108370	ENST00000262406;ENST00000449996;ENST00000443584	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2482	0.89993	0.0:0.0:1.0:0.0	.	.	.	.	X	109	.	ENSP00000262406:W109X	W	+	3	0	RGS9	60587130	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.373000	0.79623	2.592000	0.87571	0.563000	0.77884	TGG		0.468	RGS9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445885.1		NM_003835		17	45	0	0	0	0.004007	0	17	45		
ABCA5	23461	broad.mit.edu	37	17	67257837	67257837	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:67257837G>A	ENST00000392676.3	-	25	3432	c.3368C>T	c.(3367-3369)gCt>gTt	p.A1123V	ABCA5_ENST00000392677.2_Missense_Mutation_p.A1124V|ABCA5_ENST00000588877.1_Missense_Mutation_p.A1123V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1123					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	GGTGAAAGAAGCAATATAAGT	0.274																																						uc002jif.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(3367-3369)GCT>GTT		ATP-binding cassette, sub-family A , member 5							19.0	20.0	20.0					17																	67257837		2192	4243	6435	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67257837G>A	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3368C>T	17.37:g.67257837G>A	ENSP00000376443:p.Ala1123Val					ABCA5_uc002jib.2_Missense_Mutation_p.A89V|ABCA5_uc002jic.2_Missense_Mutation_p.A346V|ABCA5_uc002jid.2_Missense_Mutation_p.A40V|ABCA5_uc002jie.2_RNA|ABCA5_uc002jig.2_Missense_Mutation_p.A1123V	p.A1123V	NM_018672	NP_061142	Q8WWZ7	ABCA5_HUMAN			24	4586	-	Breast(10;3.72e-11)		1123					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.3368C>T	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861326	0.32884	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86030	-2.06;-2.06	5.26	4.3	0.51218	.	0.864512	0.09974	N	0.731875	T	0.68879	0.3049	N	0.05554	-0.025	0.28341	N	0.921327	B	0.02656	0.0	B	0.08055	0.003	T	0.57774	-0.7753	9	.	.	.	.	6.6873	0.23152	0.3083:0.0:0.6917:0.0	.	1123	Q8WWZ7	ABCA5_HUMAN	V	1124;1123	ENSP00000376444:A1124V;ENSP00000376443:A1123V	.	A	-	2	0	ABCA5	64769432	0.675000	0.27558	0.939000	0.37840	0.815000	0.46073	3.054000	0.49908	1.363000	0.46019	-0.225000	0.12378	GCT		0.274	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1		NM_018672		9	25	0	0	0	0.000978	0	9	25		
TTYH2	94015	broad.mit.edu	37	17	72249233	72249233	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:72249233G>A	ENST00000269346.4	+	12	1347	c.1273G>A	c.(1273-1275)Gat>Aat	p.D425N	TTYH2_ENST00000441391.2_Missense_Mutation_p.D104N|TTYH2_ENST00000529107.1_Missense_Mutation_p.D404N	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	425	Poly-Asp.					chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CAGAGACTACGATGACATTGA	0.572																																						uc002jkc.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1273-1275)GAT>AAT		tweety 2 isoform 1							138.0	134.0	135.0					17																	72249233		2203	4300	6503	SO:0001583	missense	94015					chloride channel complex|plasma membrane	chloride channel activity|protein binding	g.chr17:72249233G>A		CCDS32717.1, CCDS45770.1	17q25.1	2013-09-02	2013-09-02		ENSG00000141540	ENSG00000141540			13877	protein-coding gene	gene with protein product		608855	"""tweety (Drosophila) homolog 2"", ""tweety homolog 2 (Drosophila)"""			11597145	Standard	XM_005257824		Approved	C17orf29	uc002jkc.3	Q9BSA4	OTTHUMG00000166018	ENST00000269346.4:c.1273G>A	17.37:g.72249233G>A	ENSP00000269346:p.Asp425Asn					TTYH2_uc010wqw.1_Missense_Mutation_p.D404N|TTYH2_uc002jkd.2_Missense_Mutation_p.D104N	p.D425N	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN			12	1304	+			425			Cytoplasmic (Potential).|Poly-Asp.		B3KX97|Q3B7H8|Q3B7R9|Q6AWB4|Q8NBB7|Q96PK1	Missense_Mutation	SNP	ENST00000269346.4	37	c.1273G>A	CCDS32717.1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.803400	0.31869	.	.	ENSG00000141540	ENST00000269346;ENST00000529107;ENST00000441391	T;T;T	0.13778	2.56;2.56;2.56	4.51	1.32	0.21799	.	0.305062	0.32687	N	0.005776	T	0.13415	0.0325	L	0.59967	1.855	0.39135	D	0.961927	B;B	0.18968	0.031;0.032	B;B	0.24006	0.011;0.05	T	0.06144	-1.0843	10	0.49607	T	0.09	-9.2582	7.0837	0.25245	0.4189:0.0:0.5811:0.0	.	404;425	B4DKD1;Q9BSA4	.;TTYH2_HUMAN	N	425;404;104	ENSP00000269346:D425N;ENSP00000433089:D404N;ENSP00000394576:D104N	ENSP00000269346:D425N	D	+	1	0	TTYH2	69760828	1.000000	0.71417	0.036000	0.18154	0.707000	0.40811	3.212000	0.51145	0.108000	0.17862	-0.254000	0.11334	GAT		0.572	TTYH2-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387459.1				72	172	0	0	0	0.00361	0	72	172		
DNAI2	64446	broad.mit.edu	37	17	72308171	72308171	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:72308171G>C	ENST00000311014.6	+	12	1591	c.1524G>C	c.(1522-1524)aaG>aaC	p.K508N	DNAI2_ENST00000307504.5_Missense_Mutation_p.K365N|DNAI2_ENST00000582036.1_Missense_Mutation_p.K496N|RP11-647F2.2_ENST00000585167.1_RNA|DNAI2_ENST00000579490.1_Missense_Mutation_p.K565N|DNAI2_ENST00000446837.2_Missense_Mutation_p.K508N			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	508					cilium assembly (GO:0042384)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGCGAGAGAAGATCCTGGAGG	0.657									Kartagener syndrome																													uc002jkf.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1522-1524)AAG>AAC		dynein, axonemal, intermediate polypeptide 2							46.0	44.0	45.0					17																	72308171		2203	4300	6503	SO:0001583	missense	64446	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity	g.chr17:72308171G>C	AF250288	CCDS11697.1, CCDS58589.1	17q25	2013-02-19	2006-09-04			ENSG00000171595		"""Axonemal dyneins"", ""WD repeat domain containing"""	18744	protein-coding gene	gene with protein product	"""dynein intermediate chain 2"""	605483	"""dynein, axonemal, intermediate polypeptide 2"""			11153919, 21953912	Standard	NM_023036		Approved	CILD9, DIC2	uc002jkf.3	Q9GZS0		ENST00000311014.6:c.1524G>C	17.37:g.72308171G>C	ENSP00000308312:p.Lys508Asn					DNAI2_uc002jkg.2_RNA|DNAI2_uc010dfp.2_RNA|uc002jkh.1_5'Flank|DNAI2_uc002jki.2_RNA	p.K508N	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN			12	1623	+			508					C9J0S6|Q8IUW4|Q9H179|Q9NT53	Missense_Mutation	SNP	ENST00000311014.6	37	c.1524G>C	CCDS11697.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187880	0.78789	.	.	ENSG00000171595	ENST00000311014;ENST00000307504;ENST00000446837	T;T;T	0.38401	1.14;1.14;1.14	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.89715	3.055	0.58432	D	0.999999	D	0.89917	1.0	D	0.79108	0.992	T	0.76737	-0.2849	10	0.72032	D	0.01	-57.0215	17.883	0.88846	0.0:0.0:1.0:0.0	.	508	Q9GZS0	DNAI2_HUMAN	N	508;365;508	ENSP00000308312:K508N;ENSP00000302929:K365N;ENSP00000400252:K508N	ENSP00000302929:K365N	K	+	3	2	DNAI2	69819766	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.461000	0.73522	2.228000	0.72767	0.485000	0.47835	AAG		0.657	DNAI2-001	KNOWN	NMD_exception|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000442537.1		NM_023036		24	44	0	0	0	0.00632	0	24	44		
GRIN2C	2905	broad.mit.edu	37	17	72838777	72838777	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:72838777G>A	ENST00000293190.5	-	13	3645	c.3499C>T	c.(3499-3501)Cac>Tac	p.H1167Y		NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	1167					directional locomotion (GO:0033058)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of protein catabolic process (GO:0042177)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGTGGAAGGTGAGGACAGACA	0.711																																						uc002jlt.1		NaN																	0				ovary(2)|breast(2)	4						c.(3499-3501)CAC>TAC		N-methyl-D-aspartate receptor subunit 2C	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)						9.0	14.0	12.0					17																	72838777		2152	4240	6392	SO:0001583	missense	2905				glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity	g.chr17:72838777G>A		CCDS32724.1, CCDS62330.1	17q25.1	2012-08-29			ENSG00000161509	ENSG00000161509		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4587	protein-coding gene	gene with protein product		138254		NMDAR2C		9480759	Standard	NM_001278553		Approved	GluN2C	uc002jlt.1	Q14957	OTTHUMG00000044524	ENST00000293190.5:c.3499C>T	17.37:g.72838777G>A	ENSP00000293190:p.His1167Tyr					GRIN2C_uc010wrh.1_RNA	p.H1167Y	NM_000835	NP_000826	Q14957	NMDE3_HUMAN			13	3655	-	all_lung(278;0.172)|Lung NSC(278;0.207)		1167			Cytoplasmic (Potential).		B2RTT1	Missense_Mutation	SNP	ENST00000293190.5	37	c.3499C>T	CCDS32724.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609442	0.46527	.	.	ENSG00000161509	ENST00000293190	T	0.15834	2.39	4.46	4.46	0.54185	.	0.192883	0.25619	N	0.029437	T	0.14141	0.0342	L	0.29908	0.895	0.80722	D	1	B	0.31949	0.348	B	0.31016	0.123	T	0.06752	-1.0809	10	0.56958	D	0.05	.	14.1549	0.65410	0.0:0.0:1.0:0.0	.	1167	Q14957	NMDE3_HUMAN	Y	1167	ENSP00000293190:H1167Y	ENSP00000293190:H1167Y	H	-	1	0	GRIN2C	70350372	0.125000	0.22332	0.619000	0.29118	0.266000	0.26442	0.614000	0.24314	2.285000	0.76669	0.561000	0.74099	CAC		0.711	GRIN2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103824.1				6	11	0	0	0	0.001168	0	6	11		
KIAA0195	9772	broad.mit.edu	37	17	73489996	73489996	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:73489996C>T	ENST00000314256.7	+	18	2800	c.2406C>T	c.(2404-2406)gaC>gaT	p.D802D	KIAA0195_ENST00000375248.5_Splice_Site_p.D812D|KIAA0195_ENST00000579208.1_Splice_Site_p.D453D|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	802						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAGCTCTGACGGTACCTCAT	0.692																																						uc002jnz.3		NaN																	0				ovary(1)	1						c.(2404-2406)GAC>GAT		hypothetical protein LOC9772							25.0	27.0	26.0					17																	73489996		2202	4298	6500	SO:0001630	splice_region_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73489996C>T		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2407+1C>T	17.37:g.73489996C>T						KIAA0195_uc010wsa.1_Silent_p.D812D|KIAA0195_uc010wsb.1_Silent_p.D442D|KIAA0195_uc002job.3_5'Flank	p.D802D	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2681	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		802					O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.2406C>T	CCDS32732.1																																																																																				0.692	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1		NM_014738	Silent	7	29	0	0	0	0.001368	0	7	29		
LLGL2	3993	broad.mit.edu	37	17	73559178	73559178	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:73559178C>T	ENST00000392550.3	+	7	729	c.612C>T	c.(610-612)atC>atT	p.I204I	LLGL2_ENST00000578363.1_Silent_p.I204I|LLGL2_ENST00000375227.4_Silent_p.I204I|LLGL2_ENST00000167462.5_Silent_p.I204I|LLGL2_ENST00000577200.1_Silent_p.I204I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	204					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.I204I(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAACCAGATCCTGATCGGCT	0.657																																						uc002joh.2		NaN																	2	Substitution - coding silent(2)		cervix(2)	ovary(2)	2						c.(610-612)ATC>ATT		lethal giant larvae homolog 2 isoform c							48.0	49.0	49.0					17																	73559178		2203	4300	6503	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73559178C>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.612C>T	17.37:g.73559178C>T						LLGL2_uc002jog.1_Silent_p.I204I|LLGL2_uc010dgf.1_Silent_p.I204I|LLGL2_uc002joi.2_Silent_p.I204I|LLGL2_uc010dgg.1_Silent_p.I204I|LLGL2_uc002joj.2_Silent_p.I193I|LLGL2_uc010wsd.1_5'Flank|uc002jok.2_5'Flank	p.I204I	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		7	766	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		204			WD 4.		Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.612C>T	CCDS32733.1																																																																																				0.657	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1		NM_004524		26	36	0	0	0	0.00632	0	26	36		
LLGL2	3993	broad.mit.edu	37	17	73559467	73559467	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:73559467C>G	ENST00000392550.3	+	8	866	c.749C>G	c.(748-750)tCt>tGt	p.S250C	LLGL2_ENST00000578363.1_Missense_Mutation_p.S250C|LLGL2_ENST00000375227.4_Missense_Mutation_p.S250C|LLGL2_ENST00000167462.5_Missense_Mutation_p.S250C|LLGL2_ENST00000577200.1_Missense_Mutation_p.S250C	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	250					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGCTGTCACTCTGACGGCAGC	0.652																																						uc002joh.2		NaN																	0				ovary(2)	2						c.(748-750)TCT>TGT		lethal giant larvae homolog 2 isoform c							34.0	34.0	34.0					17																	73559467		2201	4298	6499	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73559467C>G	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.749C>G	17.37:g.73559467C>G	ENSP00000376333:p.Ser250Cys					LLGL2_uc002jog.1_Missense_Mutation_p.S250C|LLGL2_uc010dgf.1_Missense_Mutation_p.S250C|LLGL2_uc002joi.2_Missense_Mutation_p.S250C|LLGL2_uc010dgg.1_Missense_Mutation_p.S250C|LLGL2_uc002joj.2_Missense_Mutation_p.S239C|LLGL2_uc010wsd.1_5'Flank|uc002jok.2_5'Flank	p.S250C	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		8	903	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		250			WD 5.		Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.749C>G	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	C	4.095	0.015732	0.07959	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000375227;ENST00000545227	T;T;T	0.65364	1.47;1.47;-0.15	5.26	4.23	0.50019	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.370920	0.32548	N	0.005959	T	0.59569	0.2203	M	0.72894	2.215	0.29756	N	0.83592	B;B;B;B;B	0.26602	0.017;0.029;0.047;0.031;0.154	B;B;B;B;B	0.28709	0.014;0.032;0.047;0.043;0.093	T	0.62863	-0.6764	10	0.72032	D	0.01	-16.1791	9.1959	0.37228	0.1982:0.5802:0.2217:0.0	.	239;239;250;250;250	B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3;Q6P1M3-3	.;.;.;L2GL2_HUMAN;.	C	250;250;250;239	ENSP00000167462:S250C;ENSP00000376333:S250C;ENSP00000364375:S250C	ENSP00000167462:S250C	S	+	2	0	LLGL2	71071062	0.054000	0.20591	0.949000	0.38748	0.082000	0.17680	0.599000	0.24089	2.610000	0.88304	0.561000	0.74099	TCT		0.652	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1		NM_004524		17	61	0	0	0	0.007413	0	17	61		
EVPL	2125	broad.mit.edu	37	17	74003727	74003727	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:74003727G>A	ENST00000301607.3	-	22	5812	c.5559C>T	c.(5557-5559)atC>atT	p.I1853I	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Silent_p.I1875I	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1853	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCTGCCCAGTGATGGGGTCCA	0.612																																						uc002jqi.2		NaN																	0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(5557-5559)ATC>ATT		envoplakin							98.0	102.0	101.0					17																	74003727		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74003727G>A	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5559C>T	17.37:g.74003727G>A						EVPL_uc010wss.1_Silent_p.I1875I|EVPL_uc010wst.1_Silent_p.I1323I	p.I1853I	NM_001988	NP_001979	Q92817	EVPL_HUMAN			22	5787	-			1853			Globular 2.|Plectin 3.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.5559C>T	CCDS11737.1																																																																																				0.612	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1		NM_001988		58	155	0	0	0	0.00361	0	58	155		
SRP68	6730	broad.mit.edu	37	17	74068493	74068493	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:74068493C>T	ENST00000307877.2	-	1	241	c.80G>A	c.(79-81)aGc>aAc	p.S27N	SRP68_ENST00000539137.1_Missense_Mutation_p.S27N|SRP68_ENST00000355113.5_5'UTR|GALR2_ENST00000329003.3_5'Flank	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	27				Missing (in Ref. 1; AAF24308). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)|ribosome (GO:0005840)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						Tccaccgccgctaccgccgcc	0.662																																						uc002jqk.1		NaN																	0				ovary(1)	1						c.(79-81)AGC>AAC		signal recognition particle 68kDa							17.0	23.0	21.0					17																	74068493		1990	3895	5885	SO:0001583	missense	6730				response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding	g.chr17:74068493C>T	AF195951	CCDS11738.1, CCDS58600.1, CCDS58601.1	17q25.1	2010-04-30	2002-08-29		ENSG00000167881	ENSG00000167881			11302	protein-coding gene	gene with protein product		604858	"""signal recognition particle 68kD"""			10618370	Standard	NM_014230		Approved		uc002jqk.2	Q9UHB9		ENST00000307877.2:c.80G>A	17.37:g.74068493C>T	ENSP00000312066:p.Ser27Asn					SRP68_uc010wsu.1_5'UTR|SRP68_uc002jql.1_Missense_Mutation_p.S27N|GALR2_uc002jqm.1_5'Flank	p.S27N	NM_014230	NP_055045	Q9UHB9	SRP68_HUMAN			1	115	-			27	Missing (in Ref. 1).				B3KUU5|B3KWY7|G3V1U4|Q8NCJ4|Q8WUK2	Missense_Mutation	SNP	ENST00000307877.2	37	c.80G>A	CCDS11738.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845763	0.32606	.	.	ENSG00000167881	ENST00000539137;ENST00000540937;ENST00000307877;ENST00000304220	D;D	0.83673	-1.75;-1.75	4.91	3.86	0.44501	.	0.778280	0.12145	N	0.495450	T	0.73682	0.3618	N	0.22421	0.69	0.45452	D	0.998423	B;B	0.21905	0.062;0.062	B;B	0.19391	0.025;0.025	T	0.68390	-0.5421	10	0.41790	T	0.15	-4.7055	13.3341	0.60507	0.0:0.842:0.158:0.0	.	27;27	G3V1U4;Q9UHB9	.;SRP68_HUMAN	N	27	ENSP00000446136:S27N;ENSP00000312066:S27N	ENSP00000307756:S27N	S	-	2	0	SRP68	71580088	0.195000	0.23338	0.040000	0.18447	0.100000	0.18952	1.179000	0.31993	2.431000	0.82371	0.542000	0.68232	AGC		0.662	SRP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449487.1		NM_014230		25	48	0	0	0	0.008361	0	25	48		
EXOC7	23265	broad.mit.edu	37	17	74085384	74085384	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:74085384C>A	ENST00000335146.7	-	9	1125	c.1072G>T	c.(1072-1074)Gac>Tac	p.D358Y	EXOC7_ENST00000607838.1_Missense_Mutation_p.D330Y|EXOC7_ENST00000332065.5_Missense_Mutation_p.D276Y|EXOC7_ENST00000405575.4_Missense_Mutation_p.D330Y|EXOC7_ENST00000411744.2_Missense_Mutation_p.D299Y|EXOC7_ENST00000589210.1_Missense_Mutation_p.D307Y|EXOC7_ENST00000467929.2_Missense_Mutation_p.D266Y			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	358					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTCTCCACGTCCAGCATGTCA	0.647																																						uc002jqs.2		NaN																	0					0						c.(1072-1074)GAC>TAC		exocyst complex component 7 isoform 4							97.0	82.0	87.0					17																	74085384		2203	4300	6503	SO:0001583	missense	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74085384C>A	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.1072G>T	17.37:g.74085384C>A	ENSP00000334100:p.Asp358Tyr					EXOC7_uc010dgv.1_Missense_Mutation_p.D254Y|EXOC7_uc002jqq.2_Missense_Mutation_p.D307Y|EXOC7_uc010wsw.1_Missense_Mutation_p.D330Y|EXOC7_uc010wsx.1_Missense_Mutation_p.D299Y|EXOC7_uc002jqr.2_Missense_Mutation_p.D276Y|EXOC7_uc010wsv.1_Missense_Mutation_p.D266Y	p.D358Y	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		9	1167	-			358					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	ENST00000335146.7	37	c.1072G>T	CCDS45782.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.525149	0.85600	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	5.07	5.07	0.68467	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	N	0.08118	0	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D	0.80764	0.94;0.864;0.99;0.963;0.917;0.994;0.962	T	0.71087	-0.4694	9	0.87932	D	0	-28.0396	18.44	0.90662	0.0:1.0:0.0:0.0	.	299;330;266;266;358;276;307	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	Y	276;196;330;358;307;266;299	.	ENSP00000333806:D276Y	D	-	1	0	EXOC7	71596979	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.364000	0.79526	2.347000	0.79759	0.460000	0.39030	GAC		0.647	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2		NM_015219		20	32	1	0	4.96729e-08	0.008871	6.16165e-08	20	32		
USP36	57602	broad.mit.edu	37	17	76817134	76817134	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:76817134G>T	ENST00000542802.3	-	8	1210	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	USP36_ENST00000312010.6_Missense_Mutation_p.S256Y|USP36_ENST00000588467.1_5'Flank|USP36_ENST00000449938.2_5'UTR			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	256	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CTTGCACACGGAGCACTTCAC	0.607																																						uc002jvz.1		NaN																	0				lung(2)|ovary(1)|breast(1)|kidney(1)	5						c.(766-768)TCC>TAC		ubiquitin specific peptidase 36							72.0	53.0	59.0					17																	76817134		2202	4299	6501	SO:0001583	missense	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76817134G>T	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.767C>A	17.37:g.76817134G>T	ENSP00000441214:p.Ser256Tyr					USP36_uc002jwa.1_Missense_Mutation_p.S256Y|USP36_uc002jwc.1_5'UTR	p.S256Y	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		8	1092	-			256					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	ENST00000542802.3	37	c.767C>A	CCDS32755.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703736	0.88924	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.32023	1.47;1.47	5.13	5.13	0.70059	.	0.056125	0.64402	D	0.000001	T	0.53158	0.1779	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.52132	-0.8616	10	0.49607	T	0.09	-13.6514	18.1693	0.89740	0.0:0.0:1.0:0.0	.	256	Q9P275-2	.	Y	256	ENSP00000310590:S256Y;ENSP00000441214:S256Y	ENSP00000310590:S256Y	S	-	2	0	USP36	74328729	1.000000	0.71417	0.731000	0.30826	0.938000	0.57974	5.053000	0.64269	2.383000	0.81215	0.655000	0.94253	TCC		0.607	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3		NM_025090		7	3	1	0	2.0095e-06	0.001984	2.46908e-06	7	3		
CARD14	79092	broad.mit.edu	37	17	78166356	78166356	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:78166356G>T	ENST00000573882.1	+	11	1830	c.1294G>T	c.(1294-1296)Gtg>Ttg	p.V432L	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000570421.1_Missense_Mutation_p.V432L|CARD14_ENST00000344227.2_Missense_Mutation_p.V432L|CARD14_ENST00000392434.2_Missense_Mutation_p.V195L			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	432					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCAGCGGCTGGTGCGGATGCA	0.637																																						uc002jxw.1		NaN																	0				ovary(4)|skin(1)	5						c.(1294-1296)GTG>TTG		caspase recruitment domain protein 14 isoform 1							53.0	52.0	52.0					17																	78166356		2203	4300	6503	SO:0001583	missense	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78166356G>T	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1294G>T	17.37:g.78166356G>T	ENSP00000458715:p.Val432Leu					CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.V432L|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.V195L|CARD14_uc010dhu.1_Missense_Mutation_p.V230L	p.V432L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		9	1489	+	all_neural(118;0.0952)		432					B8QQJ3|Q9BVB5	Missense_Mutation	SNP	ENST00000573882.1	37	c.1294G>T	CCDS11768.1	.	.	.	.	.	.	.	.	.	.	g	3.773	-0.047287	0.07407	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.31769	1.48;1.48	3.64	1.44	0.22558	.	1.743120	0.03340	N	0.194678	T	0.26085	0.0636	L	0.48362	1.52	0.21256	N	0.999745	B;B;B	0.25667	0.002;0.082;0.131	B;B;B	0.24269	0.003;0.052;0.04	T	0.20438	-1.0275	10	0.09843	T	0.71	-16.5366	7.0739	0.25193	0.2629:0.0:0.7371:0.0	.	432;195;432	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	L	432;195;195	ENSP00000344549:V432L;ENSP00000376229:V195L	ENSP00000308507:V195L	V	+	1	0	CARD14	75780951	0.170000	0.23016	0.982000	0.44146	0.283000	0.27025	0.812000	0.27211	0.739000	0.32628	-0.215000	0.12644	GTG		0.637	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1				25	72	1	0	1.64293e-13	0.00333	2.11895e-13	25	72		
CHMP6	79643	broad.mit.edu	37	17	78970862	78970862	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:78970862A>G	ENST00000325167.5	+	5	482	c.404A>G	c.(403-405)gAg>gGg	p.E135G	CTD-2561B21.7_ENST00000577061.2_RNA|CTD-2561B21.7_ENST00000576215.1_RNA	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	135					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGGCCGTGGAGTACCAGCGG	0.632																																						uc002jyw.3		NaN																	0				ovary(1)	1						c.(403-405)GAG>GGG		chromatin modifying protein 6							76.0	73.0	74.0					17																	78970862		2203	4300	6503	SO:0001583	missense	79643				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding	g.chr17:78970862A>G	BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"""Charged multivesicular body proteins"""	25675	protein-coding gene	gene with protein product		610901	"""chromatin modifying protein 6"""			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.404A>G	17.37:g.78970862A>G	ENSP00000317468:p.Glu135Gly						p.E135G	NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		5	482	+	all_neural(118;0.101)		135			Potential.		A8K7U0|Q53FU4|Q9HAE8	Missense_Mutation	SNP	ENST00000325167.5	37	c.404A>G	CCDS11774.1	.	.	.	.	.	.	.	.	.	.	A	19.55	3.847907	0.71603	.	.	ENSG00000176108	ENST00000325167	T	0.76186	-1.0	4.33	3.2	0.36748	.	0.054042	0.64402	D	0.000001	D	0.83982	0.5372	M	0.93062	3.375	0.80722	D	1	B	0.34181	0.44	P	0.46339	0.513	D	0.83388	0.0016	10	0.66056	D	0.02	0.256	10.3099	0.43702	0.8338:0.1662:0.0:0.0	.	135	Q96FZ7	CHMP6_HUMAN	G	135	ENSP00000317468:E135G	ENSP00000317468:E135G	E	+	2	0	CHMP6	76585457	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	6.598000	0.74122	0.484000	0.27630	0.448000	0.29417	GAG		0.632	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438215.1		NM_024591		15	41	0	0	0	0.00245	0	15	41		
HGS	9146	broad.mit.edu	37	17	79668080	79668080	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:79668080C>T	ENST00000329138.4	+	21	2277	c.2142C>T	c.(2140-2142)ctC>ctT	p.L714L	SLC25A10_ENST00000541223.1_5'Flank|SLC25A10_ENST00000571730.1_5'Flank|RP13-1032I1.7_ENST00000575312.1_RNA|MRPL12_ENST00000333676.3_5'Flank	NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	714	Gln-rich.|Interaction with NF2.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AACAGAATCTCATGACCACCC	0.602																																						uc002kbg.2		NaN																	0				ovary(1)	1						c.(2140-2142)CTC>CTT		hepatocyte growth factor-regulated tyrosine							142.0	100.0	115.0					17																	79668080		2203	4300	6503	SO:0001819	synonymous_variant	9146				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding	g.chr17:79668080C>T	D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.2142C>T	17.37:g.79668080C>T						MRPL12_uc002kbh.1_5'Flank|SLC25A10_uc010wut.1_5'Flank	p.L714L	NM_004712	NP_004703	O14964	HGS_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		21	2219	+	all_neural(118;0.0878)|all_lung(278;0.23)		714			Interaction with NF2.|Gln-rich.		Q9NR36	Silent	SNP	ENST00000329138.4	37	c.2142C>T	CCDS11784.1																																																																																				0.602	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440541.1		NM_004712		20	71	0	0	0	0.001523	0	20	71		
NOTUM	147111	broad.mit.edu	37	17	79916822	79916822	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:79916822G>A	ENST00000409678.3	-	4	905	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	174						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CCATGTTTGCGTTCCACCAGT	0.602																																						uc010wvg.1		NaN																	0					0						c.(520-522)AAC>AAT		notum pectinacetylesterase homolog precursor							113.0	91.0	98.0					17																	79916822		2203	4300	6503	SO:0001819	synonymous_variant	147111					extracellular region	hydrolase activity	g.chr17:79916822G>A	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.522C>T	17.37:g.79916822G>A							p.N174N	NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		4	794	-	all_neural(118;0.0878)|Ovarian(332;0.12)		174					Q8N410|Q8NI82	Silent	SNP	ENST00000409678.3	37	c.522C>T	CCDS32771.2																																																																																				0.602	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2		NM_178493		24	60	0	0	0	0.007291	0	24	60		
MYL12A	10627	broad.mit.edu	37	18	3255845	3255845	+	Nonsense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:3255845A>T	ENST00000217652.3	+	4	840	c.445A>T	c.(445-447)Aaa>Taa	p.K149*	RP13-270P17.1_ENST00000578800.1_RNA|MYL12A_ENST00000579226.1_Nonsense_Mutation_p.K149*|RP13-270P17.1_ENST00000581905.1_RNA|MYL12A_ENST00000580887.1_Nonsense_Mutation_p.K155*|MYL12A_ENST00000578611.1_Nonsense_Mutation_p.K149*|MYL12A_ENST00000536605.1_Nonsense_Mutation_p.K149*	NM_006471.2	NP_006462.1	P19105	ML12A_HUMAN	myosin, light chain 12A, regulatory, non-sarcomeric	149	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				platelet aggregation (GO:0070527)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)	extracellular vesicular exosome (GO:0070062)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)			NS(1)|kidney(2)|large_intestine(2)	5						ACCTATTGATAAAAAGGGGAA	0.433																																						uc002klr.2		NaN																	0					0						c.(445-447)AAA>TAA		myosin, light chain 12A, regulatory,							86.0	73.0	77.0					18																	3255845		2203	4300	6503	SO:0001587	stop_gained	10627					myosin complex	calcium ion binding|protein binding	g.chr18:3255845A>T	X54304	CCDS11830.1	18p11.31	2013-01-10	2002-08-29		ENSG00000101608	ENSG00000101608		"""Myosins / Light chain"", ""EF-hand domain containing"""	16701	protein-coding gene	gene with protein product	"""myosin regulatory light chain 3"""		"""myosin, light polypeptide, regulatory, non-sarcomeric (20kD)"""			2216787	Standard	NM_006471		Approved	MLCB, MYL2B, MRLC3, MRCL3	uc002klr.3	P19105	OTTHUMG00000131509	ENST00000217652.3:c.445A>T	18.37:g.3255845A>T	ENSP00000217652:p.Lys149*					MYL12A_uc002kls.2_Nonsense_Mutation_p.K155*	p.K149*	NM_006471	NP_006462	P19105	ML12A_HUMAN			4	840	+			149			EF-hand 3.		Q53X45	Nonsense_Mutation	SNP	ENST00000217652.3	37	c.445A>T	CCDS11830.1	.	.	.	.	.	.	.	.	.	.	A	36	5.792554	0.96945	.	.	ENSG00000101608	ENST00000217652;ENST00000536605	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0761	0.72077	1.0:0.0:0.0:0.0	.	.	.	.	X	149	.	ENSP00000217652:K149X	K	+	1	0	MYL12A	3245845	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.761000	0.91691	2.147000	0.66899	0.454000	0.30748	AAA		0.433	MYL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254364.2		NM_006471		13	30	0	0	0	0.001368	0	13	30		
DLGAP1	9229	broad.mit.edu	37	18	3499238	3499238	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:3499238G>A	ENST00000315677.3	-	13	3474	c.2879C>T	c.(2878-2880)aCc>aTc	p.T960I	DLGAP1_ENST00000584874.1_Missense_Mutation_p.T960I|DLGAP1_ENST00000534970.1_Missense_Mutation_p.T644I|DLGAP1_ENST00000539435.1_Missense_Mutation_p.T668I|DLGAP1_ENST00000400150.3_Missense_Mutation_p.T676I|DLGAP1_ENST00000400147.2_Missense_Mutation_p.T658I|DLGAP1_ENST00000400155.1_Missense_Mutation_p.T666I|DLGAP1_ENST00000400149.3_Missense_Mutation_p.T650I|DLGAP1_ENST00000581699.1_Missense_Mutation_p.T666I	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	960					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGCGCTCTCGGTGGCCGAGTT	0.731																																						uc002kmf.2		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2878-2880)ACC>ATC		discs large homolog-associated protein 1 isoform							9.0	10.0	10.0					18																	3499238		2182	4274	6456	SO:0001583	missense	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3499238G>A	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2879C>T	18.37:g.3499238G>A	ENSP00000316377:p.Thr960Ile					DLGAP1_uc002kme.1_Missense_Mutation_p.T658I|DLGAP1_uc010dkn.2_Missense_Mutation_p.T668I|DLGAP1_uc010wyw.1_Missense_Mutation_p.T666I|DLGAP1_uc010wyx.1_Missense_Mutation_p.T682I|DLGAP1_uc010wyy.1_Missense_Mutation_p.T644I	p.T960I	NM_004746	NP_004737	O14490	DLGP1_HUMAN			10	2946	-		Colorectal(8;0.0257)	960					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	c.2879C>T	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671202	0.67814	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435	T;T;T;T;T;T;T	0.22945	1.93;1.93;1.93;1.93;1.93;1.93;1.93	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.56001	0.1956	M	0.81497	2.545	0.80722	D	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	0.97110	0.999;1.0;0.999;1.0;1.0;1.0	T	0.62058	-0.6934	10	0.87932	D	0	-28.0728	18.7351	0.91751	0.0:0.0:1.0:0.0	.	644;656;666;668;960;658	B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490;O14490-2	.;.;.;.;DLGP1_HUMAN;.	I	960;658;676;650;666;644;668	ENSP00000316377:T960I;ENSP00000383011:T658I;ENSP00000383014:T676I;ENSP00000383013:T650I;ENSP00000383019:T666I;ENSP00000437817:T644I;ENSP00000446312:T668I	ENSP00000316377:T960I	T	-	2	0	DLGAP1	3489238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.661000	0.98601	2.426000	0.82243	0.557000	0.71058	ACC		0.731	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4				9	21	0	0	0	0.001368	0	9	21		
CEP192	55125	broad.mit.edu	37	18	13059227	13059227	+	Silent	SNP	G	G	C	rs542416869		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:13059227G>C	ENST00000325971.8	+	19	4209	c.2616G>C	c.(2614-2616)tcG>tcC	p.S872S	CEP192_ENST00000430049.2_Silent_p.S993S|CEP192_ENST00000506447.1_Silent_p.S1468S			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	872					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGCCATGTTCGACAGATGCTG	0.468																																						uc010xac.1		NaN																	0				ovary(4)|pancreas(1)	5						c.(4402-4404)TCG>TCC		centrosomal protein 192kDa							163.0	151.0	155.0					18																	13059227		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13059227G>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2616G>C	18.37:g.13059227G>C						CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.S993S|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_5'UTR|CEP192_uc002krs.1_Silent_p.S1209S	p.S1468S	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			21	4484	+			1468					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.4404G>C																																																																																					0.468	CEP192-201	KNOWN	basic	protein_coding	protein_coding			NM_032142		47	112	0	0	0	0.00361	0	47	112		
CEP192	55125	broad.mit.edu	37	18	13069784	13069784	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:13069784C>T	ENST00000325971.8	+	25	4908	c.3315C>T	c.(3313-3315)ctC>ctT	p.L1105L	CEP192_ENST00000430049.2_Silent_p.L1226L|CEP192_ENST00000506447.1_Silent_p.L1701L			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1105			L -> F (in dbSNP:rs6505780). {ECO:0000269|PubMed:11230166, ECO:0000269|PubMed:12693554, ECO:0000269|PubMed:15498874}.		centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AGAATCTACTCCTTAAACCTG	0.373																																						uc010xac.1		NaN																	0				ovary(4)|pancreas(1)	5						c.(5101-5103)CTC>CTT		centrosomal protein 192kDa							100.0	104.0	103.0					18																	13069784		2203	4300	6503	SO:0001819	synonymous_variant	55125							g.chr18:13069784C>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.3315C>T	18.37:g.13069784C>T						CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.L1226L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Silent_p.L123L|CEP192_uc002krw.2_5'UTR	p.L1701L	NM_032142	NP_115518	E9PF99	E9PF99_HUMAN			27	5183	+			1701					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	37	c.5103C>T																																																																																					0.373	CEP192-201	KNOWN	basic	protein_coding	protein_coding			NM_032142		30	62	0	0	0	0.001786	0	30	62		
DSG2	1829	broad.mit.edu	37	18	29102165	29102165	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:29102165A>C	ENST00000261590.8	+	6	852	c.643A>C	c.(643-645)Aaa>Caa	p.K215Q	DSG2_ENST00000585206.1_Missense_Mutation_p.K215Q	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	215	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CTACCTAAATAAAGATACAGG	0.388																																						uc002kwu.3		NaN																	0				central_nervous_system(5)|ovary(2)|breast(1)|skin(1)	9						c.(643-645)AAA>CAA		desmoglein 2 preproprotein							105.0	99.0	101.0					18																	29102165		1845	4092	5937	SO:0001583	missense	1829				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:29102165A>C	Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.643A>C	18.37:g.29102165A>C	ENSP00000261590:p.Lys215Gln						p.K215Q	NM_001943	NP_001934	Q14126	DSG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0068)		6	831	+			215			Extracellular (Potential).|Cadherin 2.		Q4KKU6	Missense_Mutation	SNP	ENST00000261590.8	37	c.643A>C	CCDS42423.1	.	.	.	.	.	.	.	.	.	.	A	11.30	1.598272	0.28445	.	.	ENSG00000046604	ENST00000261590	T	0.52057	0.68	5.53	3.01	0.34805	Cadherin (4);Cadherin-like (1);	0.091679	0.47852	N	0.000220	T	0.35856	0.0946	N	0.21508	0.67	0.25049	N	0.991149	B	0.32653	0.379	B	0.36567	0.228	T	0.21655	-1.0239	10	0.44086	T	0.13	.	12.4707	0.55785	0.7355:0.2645:0.0:0.0	.	215	Q14126	DSG2_HUMAN	Q	215	ENSP00000261590:K215Q	ENSP00000261590:K215Q	K	+	1	0	DSG2	27356163	0.625000	0.27111	0.935000	0.37517	0.969000	0.65631	1.667000	0.37471	0.418000	0.25898	0.454000	0.30748	AAA		0.388	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447506.1		NM_001943		22	44	0	0	0	0.00278	0	22	44		
MEP1B	4225	broad.mit.edu	37	18	29775413	29775413	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:29775413C>T	ENST00000269202.6	+	5	262	c.215C>T	c.(214-216)cCt>cTt	p.P72L	MEP1B_ENST00000581447.1_Missense_Mutation_p.P72L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	72	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TATAGATGGCCTCATACCATT	0.328																																						uc002kxj.3		NaN																	0				ovary(2)	2						c.(214-216)CCT>CTT		meprin A beta precursor							155.0	142.0	146.0					18																	29775413		1835	4089	5924	SO:0001583	missense	4225				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr18:29775413C>T	X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.215C>T	18.37:g.29775413C>T	ENSP00000269202:p.Pro72Leu						p.P72L	NM_005925	NP_005916	Q16820	MEP1B_HUMAN			5	262	+			72			Extracellular (Potential).|Metalloprotease.		B7ZM35|B9EGL6|Q670J1	Missense_Mutation	SNP	ENST00000269202.6	37	c.215C>T	CCDS45846.1	.	.	.	.	.	.	.	.	.	.	C	35	5.432889	0.96150	.	.	ENSG00000141434	ENST00000269202	T	0.68181	-0.31	5.43	5.43	0.79202	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87079	0.6088	M	0.94101	3.495	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.89959	0.4085	10	0.66056	D	0.02	-18.398	19.2199	0.93791	0.0:1.0:0.0:0.0	.	72	Q16820	MEP1B_HUMAN	L	72	ENSP00000269202:P72L	ENSP00000269202:P72L	P	+	2	0	MEP1B	28029411	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.530000	0.81962	2.541000	0.85698	0.591000	0.81541	CCT		0.328	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447755.1		NM_005925		16	39	0	0	0	0.008871	0	16	39		
EPG5	57724	broad.mit.edu	37	18	43487976	43487976	+	Silent	SNP	G	G	A	rs369111537		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:43487976G>A	ENST00000282041.5	-	24	4310	c.4276C>T	c.(4276-4278)Cta>Tta	p.L1426L	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1426					autophagic vacuole maturation (GO:0097352)|autophagy (GO:0006914)|endocytic recycling (GO:0032456)					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TGCTTTGGTAGAGAAGGGATA	0.308																																						uc002lbm.2		NaN																	0					0						c.(4276-4278)CTA>TTA		hypothetical protein LOC57724		G		1,3641		0,1,1820	95.0	97.0	97.0		4276	3.2	1.0	18		97	0,8154		0,0,4077	no	coding-synonymous	EPG5	NM_020964.2		0,1,5897	AA,AG,GG		0.0,0.0275,0.0085		1426/2580	43487976	1,11795	1821	4077	5898	SO:0001819	synonymous_variant	57724				autophagy			g.chr18:43487976G>A	AK023817	CCDS11926.2	18q12.3	2011-03-02	2011-03-02	2011-03-02	ENSG00000152223	ENSG00000152223			29331	protein-coding gene	gene with protein product		615068	"""KIAA1632"""	KIAA1632		10997877, 20550938	Standard	XM_005258323		Approved	hEPG5	uc002lbm.3	Q9HCE0	OTTHUMG00000132626	ENST00000282041.5:c.4276C>T	18.37:g.43487976G>A						KIAA1632_uc002lbo.1_Silent_p.L1426L|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Silent_p.L301L	p.L1426L	NM_020964	NP_066015	Q9HCE0	EPG5_HUMAN			24	4376	-			1426					A2BDF3|Q9H8C8	Silent	SNP	ENST00000282041.5	37	c.4276C>T	CCDS11926.2																																																																																				0.308	EPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445081.1		NM_020964		47	124	0	0	0	0.00361	0	47	124		
TCEB3C	162699	broad.mit.edu	37	18	44554662	44554662	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:44554662C>T	ENST00000330682.2	-	1	1787	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	518					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CGGGTTTTGTccgcgggcgcc	0.657																																						uc010xdb.1		NaN																	0					0						c.(1552-1554)GAC>AAC		transcription elongation factor B polypeptide							2.0	2.0	2.0					18																	44554662		583	1097	1680	SO:0001583	missense	162699				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	g.chr18:44554662C>T	AB076840	CCDS11931.1	18q21.1	2008-08-13			ENSG00000183791	ENSG00000183791			24617	protein-coding gene	gene with protein product	"""elongin A3"""					11932239, 11994304	Standard	NM_145653		Approved	HsT829, TCEB3L2	uc010xdb.2	Q8NG57	OTTHUMG00000132651	ENST00000330682.2:c.1552G>A	18.37:g.44554662C>T	ENSP00000328232:p.Asp518Asn					KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron	p.D518N	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN			1	1788	-			518						Missense_Mutation	SNP	ENST00000330682.2	37	c.1552G>A	CCDS11931.1	.	.	.	.	.	.	.	.	.	.	c	5.103	0.204600	0.09704	.	.	ENSG00000183791	ENST00000330682	T	0.11385	2.78	1.35	-0.925	0.10458	.	3.379470	0.02302	U	0.071275	T	0.05181	0.0138	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.31364	-0.9946	10	0.16896	T	0.51	-0.5841	3.3339	0.07094	0.295:0.4138:0.2912:0.0	.	518	Q8NG57	ELOA3_HUMAN	N	518	ENSP00000328232:D518N	ENSP00000328232:D518N	D	-	1	0	TCEB3C	42808660	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.087000	0.11215	-0.288000	0.09051	-0.515000	0.04445	GAC		0.657	TCEB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255902.1		NM_145653		12	449	0	0	0	0.008871	0	12	449		
MAPK4	5596	broad.mit.edu	37	18	48190843	48190843	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:48190843C>T	ENST00000400384.2	+	2	1551	c.515C>T	c.(514-516)gCa>gTa	p.A172V	MAPK4_ENST00000587823.1_3'UTR|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.A172V|MAPK4_ENST00000592595.1_Missense_Mutation_p.A172V	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	172	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		TTCGGGTTGGCAAGGATCGTT	0.532																																						uc002lev.2		NaN																	0				lung(4)|skin(2)	6						c.(514-516)GCA>GTA		mitogen-activated protein kinase 4							65.0	66.0	66.0					18																	48190843		2170	4279	6449	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48190843C>T	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.515C>T	18.37:g.48190843C>T	ENSP00000383234:p.Ala172Val					MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.A172V	p.A172V	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	2	1515	+		Colorectal(6;0.0297)	172			Protein kinase.		A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.515C>T	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	C	33	5.270921	0.95429	.	.	ENSG00000141639	ENST00000400384	T	0.63417	-0.04	5.87	5.87	0.94306	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.078525	0.52532	D	0.000071	D	0.83839	0.5341	M	0.90369	3.11	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.86329	0.1697	10	0.87932	D	0	-18.3651	18.9662	0.92697	0.0:1.0:0.0:0.0	.	172;172	Q0VG04;P31152	.;MK04_HUMAN	V	172	ENSP00000383234:A172V	ENSP00000383234:A172V	A	+	2	0	MAPK4	46444841	1.000000	0.71417	0.782000	0.31804	0.879000	0.50718	7.818000	0.86416	2.780000	0.95670	0.561000	0.74099	GCA		0.532	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2		NM_002747		24	86	0	0	0	0.00278	0	24	86		
DSEL	92126	broad.mit.edu	37	18	65178545	65178545	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:65178545G>A	ENST00000310045.7	-	2	4804	c.3331C>T	c.(3331-3333)Cac>Tac	p.H1111Y	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1101					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AGCCACAAGTGAGACAAGAGG	0.388																																						uc002lke.1		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	6						c.(3331-3333)CAC>TAC		dermatan sulfate epimerase-like							53.0	51.0	52.0					18																	65178545		2203	4300	6503	SO:0001583	missense	92126					integral to membrane	isomerase activity|sulfotransferase activity	g.chr18:65178545G>A	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3331C>T	18.37:g.65178545G>A	ENSP00000310565:p.His1111Tyr						p.H1111Y	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN			2	4555	-		Esophageal squamous(42;0.129)	1101					Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	37	c.3331C>T	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575350	0.65878	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	D	0.85629	-2.01	4.79	4.79	0.61399	Sulfotransferase domain (1);	0.145902	0.45361	U	0.000364	D	0.82935	0.5145	M	0.61703	1.905	0.46725	D	0.999171	B	0.17268	0.021	B	0.15052	0.012	T	0.80872	-0.1188	10	0.54805	T	0.06	-18.5938	13.5766	0.61877	0.0779:0.0:0.9221:0.0	.	1101	Q8IZU8	DSEL_HUMAN	Y	1111;1101	ENSP00000310565:H1111Y	ENSP00000310565:H1111Y	H	-	1	0	DSEL	63329525	1.000000	0.71417	0.998000	0.56505	0.789000	0.44602	6.575000	0.74018	2.356000	0.79943	0.563000	0.77884	CAC		0.388	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1		NM_032160		16	59	0	0	0	0.004007	0	16	59		
ZADH2	284273	broad.mit.edu	37	18	72913707	72913707	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:72913707C>T	ENST00000322342.3	-	2	1087	c.798G>A	c.(796-798)ttG>ttA	p.L266L	ZADH2_ENST00000537114.2_Silent_p.L143L	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	266						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		CTATTACTATCAAGCGCCCTT	0.507																																						uc002llx.2		NaN																	0					0						c.(796-798)TTG>TTA		zinc binding alcohol dehydrogenase domain							94.0	82.0	86.0					18																	72913707		2203	4300	6503	SO:0001819	synonymous_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913707C>T	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.798G>A	18.37:g.72913707C>T						ZADH2_uc010dqv.2_Silent_p.L143L	p.L266L	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	1066	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	266					A8KA15|B4DZ91	Silent	SNP	ENST00000322342.3	37	c.798G>A	CCDS12008.1																																																																																				0.507	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1		NM_175907		26	71	0	0	0	0.004656	0	26	71		
RBFA	79863	broad.mit.edu	37	18	77794534	77794534	+	Silent	SNP	G	G	T	rs374217247		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:77794534G>T	ENST00000306735.5	+	1	177	c.39G>T	c.(37-39)gcG>gcT	p.A13A	TXNL4A_ENST00000585474.1_5'Flank|RP11-795F19.5_ENST00000569722.1_Silent_p.A13A|RBFA_ENST00000262197.7_Silent_p.A13A|TXNL4A_ENST00000589926.1_5'Flank|RBFA_ENST00000586847.1_3'UTR|TXNL4A_ENST00000592957.1_5'Flank	NM_024805.2	NP_079081.2	Q8N0V3	RBFA_HUMAN	ribosome binding factor A (putative)	13					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						GCTCCCGCGCGGGTCTCCGGG	0.706																																						uc002lns.2		NaN																	0					0						c.(37-39)GCG>GCT		hypothetical protein LOC79863 precursor							10.0	12.0	11.0					18																	77794534		2179	4270	6449	SO:0001819	synonymous_variant	79863				rRNA processing	mitochondrion		g.chr18:77794534G>T	BC014195	CCDS12021.1, CCDS54194.1	18q23	2010-10-21	2010-10-21	2010-10-21	ENSG00000101546	ENSG00000101546			26120	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 22"""	C18orf22		12477932	Standard	NM_024805		Approved	FLJ21172, HsT169	uc002lns.3	Q8N0V3	OTTHUMG00000132923	ENST00000306735.5:c.39G>T	18.37:g.77794534G>T						TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Silent_p.A13A|C18orf22_uc010dri.1_RNA	p.A13A	NM_024805	NP_079081	Q8N0V3	RBFA_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376)	1	177	+		all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2)	13					Q6PF07|Q8WZ65|Q9H776	Silent	SNP	ENST00000306735.5	37	c.39G>T	CCDS12021.1																																																																																				0.706	RBFA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256436.2		NM_024805		9	40	1	0	1.12685e-05	0.004482	1.37805e-05	9	40		
MED16	10025	broad.mit.edu	37	19	872058	872058	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:872058G>T	ENST00000589119.1	-	11	1965	c.1966C>A	c.(1966-1968)Cgg>Agg	p.R656R	MED16_ENST00000269814.4_Intron|MED16_ENST00000606828.1_5'Flank|MED16_ENST00000312090.6_Silent_p.R656R|MED16_ENST00000325464.1_Silent_p.R656R|MED16_ENST00000395808.3_Silent_p.R656R			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	656					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCAATTCCCGAAGCATGCCC	0.662																																						uc002lqd.1		NaN																	0					0						c.(1966-1968)CGG>AGG		mediator complex subunit 16							53.0	47.0	49.0					19																	872058		2173	4278	6451	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:872058G>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.1966C>A	19.37:g.872058G>T						MED16_uc010drw.1_Intron|MED16_uc002lqe.2_Silent_p.R645R|MED16_uc002lqf.2_Silent_p.R645R	p.R656R	NM_005481	NP_005472	Q9Y2X0	MED16_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)	12	2117	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	656			WD 4.		Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	c.1966C>A	CCDS12047.1																																																																																				0.662	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3		NM_005481		14	52	1	0	1.52009e-12	0.003163	1.94123e-12	14	52		
HMHA1	23526	broad.mit.edu	37	19	1073267	1073267	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:1073267G>T	ENST00000313093.2	+	3	772	c.541G>T	c.(541-543)Ggc>Tgc	p.G181C	HMHA1_ENST00000592335.1_3'UTR|HMHA1_ENST00000536472.1_Missense_Mutation_p.G21C|HMHA1_ENST00000590214.1_Missense_Mutation_p.G208C|HMHA1_ENST00000543365.1_Missense_Mutation_p.G64C|HMHA1_ENST00000586866.1_Missense_Mutation_p.G185C|HMHA1_ENST00000539243.2_Missense_Mutation_p.G197C	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	181					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCGCAGCCGGCACCCTCAT	0.627																																						uc002lqz.1		NaN																	0				lung(1)	1						c.(541-543)GGC>TGC		minor histocompatibility antigen HA-1							56.0	54.0	55.0					19																	1073267		2202	4300	6502	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1073267G>T	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.541G>T	19.37:g.1073267G>T	ENSP00000316772:p.Gly181Cys					HMHA1_uc010xgd.1_Missense_Mutation_p.G197C|HMHA1_uc010xge.1_Missense_Mutation_p.G21C|HMHA1_uc002lra.1_Missense_Mutation_p.G21C|HMHA1_uc002lrb.1_Missense_Mutation_p.G64C	p.G181C	NM_012292	NP_036424	Q92619	HMHA1_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)	3	772	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	181					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.541G>T	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347074	0.82022	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.32023	1.47;1.48;1.51;1.54	4.16	4.16	0.48862	.	0.000000	0.85682	D	0.000000	T	0.57431	0.2053	M	0.81497	2.545	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;1.0;0.999	T	0.64964	-0.6283	10	0.66056	D	0.02	-30.648	15.0034	0.71492	0.0:0.0:1.0:0.0	.	21;197;64;181	F5H4A3;F6QP70;F5H1R4;Q92619	.;.;.;HMHA1_HUMAN	C	197;181;181;21;175;64	ENSP00000439601:G197C;ENSP00000316772:G181C;ENSP00000445109:G21C;ENSP00000438979:G64C	ENSP00000316772:G181C	G	+	1	0	HMHA1	1024267	1.000000	0.71417	0.860000	0.33809	0.866000	0.49608	7.023000	0.76437	1.855000	0.53841	0.491000	0.48974	GGC		0.627	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1				21	57	1	0	1.96292e-10	0.001523	2.48637e-10	21	57		
CIRBP	1153	broad.mit.edu	37	19	1270999	1270999	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:1270999G>A	ENST00000588030.1	+	2	327	c.67G>A	c.(67-69)Gag>Aag	p.E23K	CIRBP_ENST00000588090.1_Missense_Mutation_p.E23K|CIRBP-AS1_ENST00000600215.1_RNA|CIRBP_ENST00000587323.1_Missense_Mutation_p.E23K|CIRBP_ENST00000444172.2_Nonsense_Mutation_p.W5*|CIRBP_ENST00000320936.5_Missense_Mutation_p.E23K|CIRBP_ENST00000589235.1_Missense_Mutation_p.E23K|CIRBP_ENST00000586472.1_Missense_Mutation_p.E23K|CIRBP_ENST00000589710.1_Missense_Mutation_p.E23K|CIRBP_ENST00000586773.1_Missense_Mutation_p.E23K|CIRBP_ENST00000587896.1_Missense_Mutation_p.E23K|CIRBP_ENST00000413636.2_Missense_Mutation_p.E23K|CIRBP_ENST00000585630.1_Missense_Mutation_p.E23K|CIRBP_ENST00000589660.1_Missense_Mutation_p.E23K|CIRBP_ENST00000591935.1_Missense_Mutation_p.E23K|CIRBP-AS1_ENST00000585832.1_RNA|CIRBP_ENST00000589686.1_Missense_Mutation_p.E23K|CIRBP_ENST00000588230.1_Missense_Mutation_p.E23K			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	23	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA stabilization (GO:0048255)|positive regulation of translation (GO:0045727)|response to cold (GO:0009409)|response to UV (GO:0009411)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|small ribosomal subunit rRNA binding (GO:0070181)|translation repressor activity (GO:0030371)			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		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)		GCAGTCGCTGGAGCAGGTCTT	0.567																																						uc002lrr.3		NaN																	0					0						c.(67-69)GAG>AAG		cold inducible RNA binding protein							161.0	167.0	165.0					19																	1270999		2203	4300	6503	SO:0001583	missense	1153				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity	g.chr19:1270999G>A	D78134	CCDS12059.1, CCDS74244.1, CCDS74245.1	19p13.3	2013-02-12	2001-11-28		ENSG00000099622	ENSG00000099622		"""RNA binding motif (RRM) containing"""	1982	protein-coding gene	gene with protein product	"""Cold-inducible RNA-binding protein"", ""glycine-rich RNA binding protein"""	602649	"""cold inducible RNA-binding protein"""			9434172, 9151692	Standard	NM_001280		Approved	CIRP	uc002lrr.4	Q14011		ENST00000588030.1:c.67G>A	19.37:g.1270999G>A	ENSP00000468788:p.Glu23Lys					C19orf23_uc010xgk.1_5'Flank|CIRBP_uc010dsg.1_Nonsense_Mutation_p.W5*|CIRBP_uc002lrt.2_Missense_Mutation_p.E23K|CIRBP_uc010xgl.1_Missense_Mutation_p.E23K|CIRBP_uc002lrv.3_Missense_Mutation_p.E23K|CIRBP_uc002lru.2_RNA	p.E23K	NM_001280	NP_001271	Q14011	CIRBP_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)	2	216	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)	23			RRM.		B3KT17|B4E2X2	Missense_Mutation	SNP	ENST00000588030.1	37	c.67G>A	CCDS12059.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.88|19.88	3.908854|3.908854	0.72868|0.72868	.|.	.|.	ENSG00000099622|ENSG00000099622	ENST00000320936;ENST00000413636|ENST00000444172	D;D|.	0.85013|.	-1.93;-1.93|.	4.6|4.6	3.57|3.57	0.40892|0.40892	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.145674|.	0.44902|.	U|.	0.000408|.	T|.	0.20941|.	0.0504|.	N|N	0.01482|0.01482	-0.84|-0.84	0.80722|0.80722	A|A	1|1	B;P;P|.	0.42908|.	0.127;0.592;0.793|.	B;P;P|.	0.51516|.	0.345;0.672;0.656|.	T|.	0.34576|.	-0.9823|.	9|.	0.87932|0.56958	D|D	0|0.05	0.2657|0.2657	11.2383|11.2383	0.48953|0.48953	0.0909:0.0:0.9091:0.0|0.0909:0.0:0.9091:0.0	.|.	23;23;23|.	B4E2X2;D6W5Y5;Q14011|.	.;.;CIRBP_HUMAN|.	K|X	23|5	ENSP00000322887:E23K;ENSP00000412831:E23K|.	ENSP00000322887:E23K|ENSP00000407512:W5X	E|W	+|+	1|3	0|0	CIRBP|CIRBP	1221999|1221999	1.000000|1.000000	0.71417|0.71417	0.933000|0.933000	0.37362|0.37362	0.006000|0.006000	0.05464|0.05464	7.808000|7.808000	0.86044|0.86044	0.934000|0.934000	0.37316|0.37316	0.563000|0.563000	0.77884|0.77884	GAG|TGG		0.567	CIRBP-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449969.1		NM_001280		72	180	0	0	0	0.00361	0	72	180		
CREB3L3	84699	broad.mit.edu	37	19	4159761	4159761	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:4159761G>A	ENST00000078445.2	+	4	705	c.558G>A	c.(556-558)tcG>tcA	p.S186S	CREB3L3_ENST00000595923.1_Silent_p.S185S|CREB3L3_ENST00000602147.1_Silent_p.S186S|CREB3L3_ENST00000602257.1_Silent_p.S186S|CREB3L3_ENST00000252587.3_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	186					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCTTTCGGGCAGCAGTG	0.612																																						uc002lzl.2		NaN																	0				ovary(1)|skin(1)	2						c.(556-558)TCG>TCA		cAMP responsive element binding protein 3-like							71.0	67.0	68.0					19																	4159761		2203	4300	6503	SO:0001819	synonymous_variant	84699				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:4159761G>A		CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.558G>A	19.37:g.4159761G>A						CREB3L3_uc002lzm.2_Silent_p.S176S|CREB3L3_uc010xib.1_Silent_p.S177S|CREB3L3_uc010xic.1_Silent_p.S177S	p.S186S	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)	4	674	+			186			Cytoplasmic (Potential).		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Silent	SNP	ENST00000078445.2	37	c.558G>A	CCDS12121.1																																																																																				0.612	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457922.1		NM_032607		29	74	0	0	0	0.002096	0	29	74		
UBXN6	80700	broad.mit.edu	37	19	4453498	4453499	+	Missense_Mutation	DNP	TC	TC	GT	rs568232630	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:4453498_4453499TC>GT	ENST00000301281.6	-	3	392_393	c.268_269GA>AC	c.(268-270)GAa>ACa	p.E90T	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_Missense_Mutation_p.E37T	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	90						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GACGGTGGCTTCGGCTTGAAGT	0.629																																						uc002man.1		NaN																	0					0						c.(268-270)GAA>ACA		UBX domain protein 6																																				SO:0001583	missense	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4453498_4453499TC>GT	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.268_269delinsGT	19.37:g.4453498_4453499delinsGT	ENSP00000301281:p.Glu90Thr					UBXN6_uc010dty.1_Missense_Mutation_p.E37T|UBXN6_uc002mam.1_Missense_Mutation_p.E37T	p.E90T	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN			3	364_365	-			90					D6W626|Q96AH1|Q96IK9|Q9BZV0	Missense_Mutation	DNP	ENST00000301281.6	37	c.268_269GA>AC	CCDS12129.1																																																																																				0.629	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3		NM_025241		12	33	0	0	0	0.004672	0	12	33		
CAMSAP3	57662	broad.mit.edu	37	19	7676817	7676817	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:7676817G>A	ENST00000160298.4	+	11	1539	c.1438G>A	c.(1438-1440)Gac>Aac	p.D480N	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.D507N	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	480	Pro-rich.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						TGGGGCGGCCGACGGCAGCTT	0.692																																						uc002mgv.3		NaN																	0				pancreas(1)	1						c.(1438-1440)GAC>AAC		NEZHA isoform 2							26.0	32.0	30.0					19																	7676817		1931	4120	6051	SO:0001583	missense	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7676817G>A	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1438G>A	19.37:g.7676817G>A	ENSP00000160298:p.Asp480Asn					KIAA1543_uc002mgu.3_Missense_Mutation_p.D507N|KIAA1543_uc002mgw.2_5'Flank	p.D480N	NM_020902	NP_065953	Q9P1Y5	CAMP3_HUMAN			11	1539	+			480			Pro-rich.		Q8NDF1	Missense_Mutation	SNP	ENST00000160298.4	37	c.1438G>A	CCDS42489.1	.	.	.	.	.	.	.	.	.	.	g	13.75	2.330682	0.41297	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.16196	2.37;2.36	4.39	4.39	0.52855	.	0.122950	0.53938	D	0.000044	T	0.27241	0.0668	L	0.32530	0.975	0.39315	D	0.965149	D;D	0.76494	0.999;0.999	P;D	0.80764	0.852;0.994	T	0.03875	-1.0996	10	0.09084	T	0.74	-21.9894	15.7344	0.77831	0.0:0.0:1.0:0.0	.	480;507	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	N	507;480	ENSP00000416797:D507N;ENSP00000160298:D480N	ENSP00000160298:D480N	D	+	1	0	KIAA1543	7582817	0.972000	0.33761	0.836000	0.33094	0.849000	0.48306	5.476000	0.66793	1.988000	0.58038	0.544000	0.68410	GAC		0.692	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1		XM_048362		17	48	0	0	0	0.007413	0	17	48		
MUC16	94025	broad.mit.edu	37	19	9064866	9064866	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:9064866G>T	ENST00000397910.4	-	3	22783	c.22580C>A	c.(22579-22581)tCt>tAt	p.S7527Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7529	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S7527Y(2)|p.S3160Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTAGTGTTAGATAAGGCAGG	0.483																																						uc002mkp.2		NaN																	3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(22579-22581)TCT>TAT		mucin 16							121.0	116.0	117.0					19																	9064866		1983	4169	6152	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9064866G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.22580C>A	19.37:g.9064866G>T	ENSP00000381008:p.Ser7527Tyr						p.S7527Y	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	22784	-			7529			Ser-rich.|Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.22580C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	N	4.722	0.134197	0.09032	.	.	ENSG00000181143	ENST00000397910	T	0.24538	1.85	2.98	-4.02	0.04034	.	.	.	.	.	T	0.12263	0.0298	N	0.19112	0.55	.	.	.	B	0.28850	0.225	B	0.26310	0.068	T	0.26189	-1.0110	8	0.87932	D	0	.	2.7887	0.05381	0.3495:0.0:0.3002:0.3502	.	7527	B5ME49	.	Y	7527	ENSP00000381008:S7527Y	ENSP00000381008:S7527Y	S	-	2	0	MUC16	8925866	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.677000	0.05215	-0.728000	0.04882	-0.224000	0.12420	TCT		0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		29	66	1	0	2.65835e-16	0.007291	3.44568e-16	29	66		
OR7G2	390882	broad.mit.edu	37	19	9213259	9213259	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:9213259T>C	ENST00000305456.2	-	1	723	c.724A>G	c.(724-726)Atc>Gtc	p.I242V		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CAGGAGGTGATCTGAGTGTAA	0.448																																					Esophageal Squamous(67;143 1448 28637 40648)	uc010xkk.1		NaN																	0				skin(1)	1						c.(724-726)ATC>GTC		olfactory receptor, family 7, subfamily G,							116.0	105.0	108.0					19																	9213259		2203	4300	6503	SO:0001583	missense	390882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9213259T>C		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.724A>G	19.37:g.9213259T>C	ENSP00000303822:p.Ile242Val						p.I242V	NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN			1	724	-			221			Cytoplasmic (Potential).		Q6IFJ4|Q96RA0	Missense_Mutation	SNP	ENST00000305456.2	37	c.724A>G	CCDS32897.1	.	.	.	.	.	.	.	.	.	.	t	11.46	1.646765	0.29246	.	.	ENSG00000170923	ENST00000305456	T	0.00374	7.72	3.14	3.14	0.36123	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37906	U	0.001885	T	0.00637	0.0021	M	0.90145	3.09	0.09310	N	0.999996	P	0.34934	0.476	B	0.41619	0.361	T	0.06197	-1.0840	10	0.87932	D	0	.	11.3084	0.49349	0.0:0.0:0.0:1.0	.	221	Q8NG99	OR7G2_HUMAN	V	242	ENSP00000303822:I242V	ENSP00000303822:I242V	I	-	1	0	OR7G2	9074259	0.992000	0.36948	0.011000	0.14972	0.001000	0.01503	2.756000	0.47549	1.718000	0.51419	0.367000	0.22151	ATC		0.448	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448994.1				30	93	0	0	0	0.007291	0	30	93		
SMARCA4	6597	broad.mit.edu	37	19	11094925	11094925	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:11094925G>A	ENST00000429416.3	+	3	379	c.98G>A	c.(97-99)gGt>gAt	p.G33D	SMARCA4_ENST00000358026.2_Missense_Mutation_p.G33D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G33D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G33D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.G33D|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G33D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G33D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G33D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G33D	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	33	Necessary for interaction with SS18L1/CREST. {ECO:0000250}.				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)				CCTAGCCCGGGTCCCTCGCCG	0.726			"""F, N, Mis"""		NSCLC																																	uc002mqf.3		NaN		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)	p.?(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.(97-99)GGT>GAT		SWI/SNF-related matrix-associated							15.0	19.0	17.0					19																	11094925		2195	4290	6485	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.chr19:11094925G>A	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.98G>A	19.37:g.11094925G>A	ENSP00000395654:p.Gly33Asp					SMARCA4_uc010dxp.2_Missense_Mutation_p.G33D|SMARCA4_uc010dxo.2_Missense_Mutation_p.G33D|SMARCA4_uc002mqg.1_Missense_Mutation_p.G33D|SMARCA4_uc010dxq.2_Missense_Mutation_p.G33D|SMARCA4_uc010dxr.2_Missense_Mutation_p.G33D|SMARCA4_uc002mqj.3_Missense_Mutation_p.G33D|SMARCA4_uc010dxs.2_Missense_Mutation_p.G33D|SMARCA4_uc002mqe.2_Missense_Mutation_p.G33D	p.G33D	NM_003072	NP_003063	P51532	SMCA4_HUMAN			2	382	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	33			Necessary for interaction with SS18L1/CREST (By similarity).		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.98G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022731	0.75275	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.87571	-2.26;-2.27;-2.26;-2.23;-2.24;-2.24;-2.23	4.95	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.91784	0.7401	L	0.53249	1.67	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.79108	0.992;0.992;0.992;0.992;0.992;0.992;0.992	D	0.92444	0.5964	10	0.72032	D	0.01	-21.3216	17.1334	0.86732	0.0:0.0:1.0:0.0	.	33;33;33;33;33;33;33	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	D	33	ENSP00000395654:G33D;ENSP00000350720:G33D;ENSP00000343896:G33D;ENSP00000445036:G33D;ENSP00000392837:G33D;ENSP00000397783:G33D;ENSP00000414727:G33D	ENSP00000343896:G33D	G	+	2	0	SMARCA4	10955925	1.000000	0.71417	0.913000	0.36048	0.866000	0.49608	9.361000	0.97122	2.563000	0.86464	0.655000	0.94253	GGT		0.726	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2		NM_003072		10	46	0	0	0	0.006214	0	10	46		
NANOS3	342977	broad.mit.edu	37	19	13988429	13988429	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:13988429C>T	ENST00000397555.2	+	2	310	c.310C>T	c.(310-312)Cac>Tac	p.H104Y	MIR181C_ENST00000384881.1_RNA|MIR181D_ENST00000384853.1_RNA|NANOS3_ENST00000591727.1_Intron|NANOS3_ENST00000339133.5_Missense_Mutation_p.H123Y	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	104					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			TGAGCGCGCCCACACCCGACG	0.652																																						uc002mxj.3		NaN																	0				skin(1)	1						c.(367-369)CAC>TAC		nanos homolog 3							24.0	30.0	28.0					19																	13988429		2152	4250	6402	SO:0001583	missense	342977				anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding	g.chr19:13988429C>T	BM702754	CCDS42511.1	19p13.13	2003-12-01				ENSG00000187556			22048	protein-coding gene	gene with protein product		608229					Standard	NM_001098622		Approved	NANOS1L, NOS3	uc002mxj.4	P60323		ENST00000397555.2:c.310C>T	19.37:g.13988429C>T	ENSP00000380687:p.His104Tyr						p.H123Y	NM_001098622	NP_001092092	P60323	NANO3_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;2e-21)		1	480	+			104			C2HC 2.|Nanos-type.		Q495E5	Missense_Mutation	SNP	ENST00000397555.2	37	c.367C>T		.	.	.	.	.	.	.	.	.	.	C	25.0	4.595310	0.86953	.	.	ENSG00000187556	ENST00000339133;ENST00000397555	D;D	0.81579	-1.51;-1.51	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.89777	0.6813	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.90952	0.4806	9	0.87932	D	0	-0.861	15.857	0.78987	0.0:1.0:0.0:0.0	.	123	P60323-2	.	Y	123;104	ENSP00000341992:H123Y;ENSP00000380687:H104Y	ENSP00000341992:H123Y	H	+	1	0	NANOS3	13849429	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.159000	0.77483	2.622000	0.88805	0.655000	0.94253	CAC		0.652	NANOS3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			XM_292819		12	22	0	0	0	0.000978	0	12	22		
AKAP8	10270	broad.mit.edu	37	19	15466028	15466028	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:15466028C>T	ENST00000269701.2	-	14	1837	c.1777G>A	c.(1777-1779)Gga>Aga	p.G593R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	593					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GCGGGCGCTCCTTCCCCATCT	0.617																																					GBM(190;1671 2163 3274 27186 30476)	uc002nav.2		NaN																	0				ovary(1)|breast(1)	2						c.(1777-1779)GGA>AGA		A-kinase anchor protein 8							57.0	54.0	55.0					19																	15466028		2203	4300	6503	SO:0001583	missense	10270				signal transduction	nuclear matrix		g.chr19:15466028C>T	Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1777G>A	19.37:g.15466028C>T	ENSP00000269701:p.Gly593Arg					AKAP8_uc010dzy.2_Missense_Mutation_p.G142R	p.G593R	NM_005858	NP_005849	O43823	AKAP8_HUMAN			14	1838	-			593						Missense_Mutation	SNP	ENST00000269701.2	37	c.1777G>A	CCDS12329.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845442	0.32606	.	.	ENSG00000105127	ENST00000269701	T	0.50277	0.75	5.31	3.13	0.36017	.	0.852418	0.10035	N	0.724210	T	0.37320	0.0999	L	0.32530	0.975	0.20196	N	0.999921	B	0.09022	0.002	B	0.08055	0.003	T	0.30504	-0.9976	10	0.56958	D	0.05	-0.5915	8.8613	0.35258	0.0:0.7691:0.1489:0.082	.	593	O43823	AKAP8_HUMAN	R	593	ENSP00000269701:G593R	ENSP00000269701:G593R	G	-	1	0	AKAP8	15327028	0.002000	0.14202	0.000000	0.03702	0.027000	0.11550	1.398000	0.34554	0.611000	0.30052	-0.165000	0.13383	GGA		0.617	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3		NM_005858		39	92	0	0	0	0.00874	0	39	92		
MAP1S	55201	broad.mit.edu	37	19	17837423	17837423	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:17837423C>T	ENST00000324096.4	+	5	1381	c.1230C>T	c.(1228-1230)gcC>gcT	p.A410A	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Silent_p.A384A	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	410	Necessary for the microtubule-organizing center localization.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCACGCTGGCCTCTGTGTGCG	0.726																																						uc002nhe.1		NaN																	0				central_nervous_system(1)	1						c.(1228-1230)GCC>GCT		BPY2 interacting protein 1							5.0	5.0	5.0					19																	17837423		2037	3980	6017	SO:0001819	synonymous_variant	55201				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	g.chr19:17837423C>T	BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1230C>T	19.37:g.17837423C>T						MAP1S_uc010eaz.1_RNA|MAP1S_uc010eba.1_Silent_p.A410A|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Silent_p.A384A	p.A410A	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN			5	1239	+			410			Necessary for the microtubule-organizing center localization.		B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Silent	SNP	ENST00000324096.4	37	c.1230C>T	CCDS32954.1																																																																																				0.726	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466027.1		NM_018174		4	7	0	0	0	0.000248	0	4	7		
UPF1	5976	broad.mit.edu	37	19	18965703	18965703	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:18965703G>A	ENST00000599848.1	+	10	1523	c.1314G>A	c.(1312-1314)ttG>ttA	p.L438L	UPF1_ENST00000262803.5_Silent_p.L427L			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	438					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						AGAGCGCATTGAAAACGTTTG	0.587																																						uc002nkg.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1312-1314)TTG>TTA		regulator of nonsense transcripts 1							87.0	74.0	78.0					19																	18965703		2203	4300	6503	SO:0001819	synonymous_variant	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18965703G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.1314G>A	19.37:g.18965703G>A						UPF1_uc002nkf.2_Silent_p.L427L	p.L438L	NM_002911	NP_002902	Q92900	RENT1_HUMAN			10	1589	+			438					O00239|O43343|Q86Z25|Q92842	Silent	SNP	ENST00000599848.1	37	c.1314G>A																																																																																					0.587	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1		NM_002911		16	37	0	0	0	0.00499	0	16	37		
ZNF101	94039	broad.mit.edu	37	19	19790184	19790184	+	Missense_Mutation	SNP	G	G	T	rs375316779		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:19790184G>T	ENST00000592502.1	+	4	496	c.386G>T	c.(385-387)cGa>cTa	p.R129L	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.R9L			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	129					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R129Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						GGACACAAACGATCTGAGTGT	0.522																																						uc002nni.1		NaN																	1	Substitution - Missense(1)		prostate(1)	ovary(2)	2						c.(385-387)CGA>CTA		zinc finger protein 101							103.0	85.0	91.0					19																	19790184		2203	4300	6503	SO:0001583	missense	94039				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:19790184G>T	AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.386G>T	19.37:g.19790184G>T	ENSP00000468049:p.Arg129Leu					ZNF101_uc010ecg.1_Missense_Mutation_p.R9L|ZNF101_uc002nnj.1_Missense_Mutation_p.R9L	p.R129L	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN			4	496	+			129					C9JU83|Q0VDG9	Missense_Mutation	SNP	ENST00000592502.1	37	c.386G>T	CCDS32971.1	.	.	.	.	.	.	.	.	.	.	G	4.916	0.170283	0.09339	.	.	ENSG00000181896	ENST00000318110;ENST00000415440;ENST00000415784	T;T	0.14144	2.53;3.32	0.235	0.235	0.15431	Zinc finger, C2H2 (1);	.	.	.	.	T	0.06142	0.0159	N	0.08118	0	0.20074	N	0.999933	B	0.09022	0.002	B	0.06405	0.002	T	0.34601	-0.9822	9	0.62326	D	0.03	.	3.8765	0.09059	1.0E-4:0.4738:0.5259:1.0E-4	.	129	Q8IZC7	ZN101_HUMAN	L	129;129;9	ENSP00000319716:R129L;ENSP00000400952:R9L	ENSP00000319716:R129L	R	+	2	0	ZNF101	19651184	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.849000	0.27723	0.308000	0.22923	0.313000	0.20887	CGA		0.522	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460559.1		NM_033204		28	62	1	0	1.5548e-18	0.005443	2.03561e-18	28	62		
ZNF708	7562	broad.mit.edu	37	19	21493399	21493399	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:21493399C>T	ENST00000356929.3	-	2	231	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	0					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(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						AGAGAGAATTCTATGGCCACA	0.398																																						uc002npq.1		NaN																	0				central_nervous_system(4)|skin(2)	6						c.(34-36)GAA>AAA		zinc finger protein 708							80.0	85.0	83.0					19																	21493399		2203	4300	6503	SO:0001583	missense	7562				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21493399C>T	X52339	CCDS32980.1	19p12	2014-02-14	2006-08-22	2005-08-16	ENSG00000182141	ENSG00000182141		"""Zinc fingers, C2H2-type"", ""-"""	12945	protein-coding gene	gene with protein product			"""zinc finger protein 15-like 1 (KOX 8)"", ""zinc finger protein 708"", ""zinc finger protein 708 (KOX8)"""	ZNF15, ZNF15L1		2014798	Standard	NM_021269		Approved	KOX8	uc002npq.1	P17019	OTTHUMG00000182841	ENST00000356929.3:c.34G>A	19.37:g.21493399C>T	ENSP00000349401:p.Glu12Lys					ZNF708_uc002npr.1_Intron|ZNF708_uc010ecs.1_Intron	p.E12K	NM_021269	NP_067092	P17019	ZN708_HUMAN			2	232	-			12			KRAB.		Q6ZMR0	Missense_Mutation	SNP	ENST00000356929.3	37	c.34G>A	CCDS32980.1	.	.	.	.	.	.	.	.	.	.	.	10.05	1.244693	0.22796	.	.	ENSG00000182141	ENST00000356929	T	0.01767	4.65	1.22	1.22	0.21188	Krueppel-associated box (4);	.	.	.	.	T	0.08044	0.0201	M	0.85099	2.735	0.09310	N	1	D	0.55385	0.971	D	0.63033	0.91	T	0.13045	-1.0524	9	0.62326	D	0.03	.	5.3307	0.15930	0.0:1.0:0.0:0.0	.	12	P17019	ZN708_HUMAN	K	12	ENSP00000349401:E12K	ENSP00000349401:E12K	E	-	1	0	ZNF708	21285239	0.000000	0.05858	0.191000	0.23289	0.193000	0.23685	-0.263000	0.08670	0.300000	0.22699	0.305000	0.20034	GAA		0.398	ZNF708-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463953.1		NM_021269		33	109	0	0	0	0.002836	0	33	109		
PDCD5	9141	broad.mit.edu	37	19	33072194	33072194	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:33072194G>A	ENST00000590247.2	+	1	221	c.27G>A	c.(25-27)ctG>ctA	p.L9L	PDCD5_ENST00000419343.3_Silent_p.L9L|PDCD5_ENST00000379316.3_Silent_p.L9L|PDCD5_ENST00000586035.1_5'Flank|PDCD5_ENST00000592786.1_Silent_p.L9L	NM_004708.3	NP_004699.1	O14737	PDCD5_HUMAN	programmed cell death 5	9					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|large_intestine(2)|lung(1)|ovary(1)	5	Esophageal squamous(110;0.137)					TTGAGGCGCTGAGGAGACAGA	0.736																																						uc002ntm.2		NaN																	0				ovary(1)|lung(1)	2						c.(25-27)CTG>CTA		programmed cell death 5																																				SO:0001819	synonymous_variant	9141				apoptosis|induction of apoptosis	cytoplasm|nucleus	DNA binding	g.chr19:33072194G>A	AF014955	CCDS12423.1	19q13.11	2012-10-15			ENSG00000105185	ENSG00000105185			8764	protein-coding gene	gene with protein product	"""TFAR19 novel apoptosis-related"", ""TF1 cell apoptosis-related gene 19"""	604583				9920759	Standard	NM_004708		Approved	TFAR19, MGC9294	uc002ntm.3	O14737	OTTHUMG00000180224	ENST00000590247.2:c.27G>A	19.37:g.33072194G>A						PDCD5_uc002ntl.2_Silent_p.L9L|PDCD5_uc010ede.2_RNA	p.L9L	NM_004708	NP_004699	O14737	PDCD5_HUMAN			1	91	+	Esophageal squamous(110;0.137)		9					B4DE64|Q53YC9|Q6IB70	Silent	SNP	ENST00000590247.2	37	c.27G>A	CCDS12423.1																																																																																				0.736	PDCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450320.2		NM_004708		7	11	0	0	0	0.004482	0	7	11		
ANKRD27	84079	broad.mit.edu	37	19	33106574	33106574	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:33106574G>A	ENST00000306065.4	-	22	2323	c.2165C>T	c.(2164-2166)cCa>cTa	p.P722L		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	722					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTTCTGAGCTGGGGCACACTT	0.502																																						uc002ntn.1		NaN																	0				ovary(2)|skin(2)|pancreas(1)	5						c.(2164-2166)CCA>CTA		ankyrin repeat domain 27 (VPS9 domain)							111.0	94.0	100.0					19																	33106574		2203	4300	6503	SO:0001583	missense	84079				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr19:33106574G>A	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.2165C>T	19.37:g.33106574G>A	ENSP00000304292:p.Pro722Leu						p.P722L	NM_032139	NP_115515	Q96NW4	ANR27_HUMAN			22	2321	-	Esophageal squamous(110;0.137)		722					Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	37	c.2165C>T	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.293187	0.40594	.	.	ENSG00000105186	ENST00000306065	T	0.70631	-0.5	5.18	4.13	0.48395	Ankyrin repeat-containing domain (2);	0.000000	0.56097	D	0.000030	T	0.51924	0.1703	N	0.16656	0.425	0.80722	D	1	P	0.35923	0.528	B	0.39217	0.294	T	0.44345	-0.9334	10	0.10636	T	0.68	-13.2567	9.7253	0.40328	0.0734:0.0:0.7848:0.1418	.	722	Q96NW4	ANR27_HUMAN	L	722	ENSP00000304292:P722L	ENSP00000304292:P722L	P	-	2	0	ANKRD27	37798414	1.000000	0.71417	0.998000	0.56505	0.434000	0.31775	6.864000	0.75494	1.302000	0.44855	-0.518000	0.04402	CCA		0.502	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1		NM_032139		25	89	0	0	0	0.008361	0	25	89		
UBA2	10054	broad.mit.edu	37	19	34919421	34919421	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:34919421C>T	ENST00000246548.4	+	1	154	c.84C>T	c.(82-84)atC>atT	p.I28I	CTD-2588C8.8_ENST00000592220.1_RNA|UBA2_ENST00000439527.2_5'Flank	NM_005499.2	NP_005490.1	Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	28					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SUMO activating enzyme complex (GO:0031510)	ATP binding (GO:0005524)|enzyme activator activity (GO:0008047)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SUMO activating enzyme activity (GO:0019948)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGGGCGGCATCGGCTGCGAGC	0.736																																						uc002nvk.2		NaN																	0				ovary(1)	1						c.(82-84)ATC>ATT		SUMO-1 activating enzyme subunit 2							6.0	9.0	8.0					19																	34919421		1887	3848	5735	SO:0001819	synonymous_variant	10054				protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity	g.chr19:34919421C>T	BC003153	CCDS12439.1	19q13.11	2008-02-05	2007-11-30	2007-11-30		ENSG00000126261		"""Ubiquitin-like modifier activating enzymes"""	30661	protein-coding gene	gene with protein product	"""UBA2, ubiquitin-activating enzyme E1 homolog (yeast)"""	613295	"""SUMO1 activating enzyme subunit 2"""	SAE2		10187858, 9920803	Standard	NM_005499		Approved	FLJ13058, HRIHFB2115, ARX	uc002nvk.3	Q9UBT2		ENST00000246548.4:c.84C>T	19.37:g.34919421C>T						UBA2_uc010xrx.1_5'UTR|UBA2_uc002nvl.2_5'Flank	p.I28I	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.211)		1	154	+	Esophageal squamous(110;0.162)		28			ATP.		B3KWB9|O95605|Q59H87|Q6IBP6|Q9NTJ1|Q9UED2	Silent	SNP	ENST00000246548.4	37	c.84C>T	CCDS12439.1																																																																																				0.736	UBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459257.3		NM_005499		12	29	0	0	0	0.00245	0	12	29		
LSR	51599	broad.mit.edu	37	19	35758181	35758181	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:35758181C>T	ENST00000361790.3	+	9	1617	c.1458C>T	c.(1456-1458)gcC>gcT	p.A486A	AD000684.2_ENST00000602262.1_RNA|USF2_ENST00000222305.3_5'Flank|USF2_ENST00000379134.3_5'Flank|LSR_ENST00000427250.1_Silent_p.A330A|LSR_ENST00000360798.3_Silent_p.A418A|LSR_ENST00000602122.1_Silent_p.A466A|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000343550.5_5'Flank|LSR_ENST00000354900.3_Silent_p.A467A|USF2_ENST00000595068.1_5'Flank|LSR_ENST00000347609.4_Silent_p.A428A	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	486					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			gctggcgggccaggcggcccc	0.746																																						uc002nyl.2		NaN																	0					0						c.(1456-1458)GCC>GCT		lipolysis stimulated lipoprotein receptor							4.0	6.0	5.0					19																	35758181		1708	3659	5367	SO:0001819	synonymous_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35758181C>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.1458C>T	19.37:g.35758181C>T						LSR_uc002nym.2_Silent_p.A467A|LSR_uc002nyn.2_Silent_p.A418A|LSR_uc002nyo.2_Silent_p.A466A|LSR_uc010xsr.1_Silent_p.A378A|LSR_uc002nyp.2_Silent_p.A428A|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nys.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyu.1_5'Flank|USF2_uc002nyv.1_5'Flank	p.A486A	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		9	1681	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		486			Cytoplasmic (Potential).		A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	c.1458C>T	CCDS12450.1																																																																																				0.746	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2		NM_015925		3	6	0	0	0	0.004672	0	3	6		
CD22	933	broad.mit.edu	37	19	35823632	35823632	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:35823632G>A	ENST00000085219.5	+	3	283	c.217G>A	c.(217-219)Ggg>Agg	p.G73R	CD22_ENST00000270311.6_5'UTR|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000341773.6_Missense_Mutation_p.G73R|CD22_ENST00000536635.2_Missense_Mutation_p.G73R|CD22_ENST00000544992.2_Missense_Mutation_p.G73R|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000594250.1_Missense_Mutation_p.G73R|U62631.5_ENST00000597110.1_RNA	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	73	Ig-like V-type.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GAAGTTTGATGGGACAAGACT	0.473																																					Ovarian(42;1009 1133 23674 26041)	uc010edt.2		NaN																	0				ovary(5)|lung(3)|breast(1)	9						c.(217-219)GGG>AGG		CD22 molecule precursor	OspA lipoprotein(DB00045)						99.0	94.0	96.0					19																	35823632		2203	4300	6503	SO:0001583	missense	933				cell adhesion		protein binding|sugar binding	g.chr19:35823632G>A	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.217G>A	19.37:g.35823632G>A	ENSP00000085219:p.Gly73Arg					CD22_uc010xst.1_5'UTR|CD22_uc010edu.2_Missense_Mutation_p.G73R|CD22_uc010edv.2_Missense_Mutation_p.G73R|CD22_uc002nzb.3_Missense_Mutation_p.G73R	p.G73R	NM_001771	NP_001762	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		3	294	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		73			Extracellular (Potential).|Ig-like V-type.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	ENST00000085219.5	37	c.217G>A	CCDS12457.1	.	.	.	.	.	.	.	.	.	.	G	18.75	3.691568	0.68271	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.52	5.52	0.82312	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000083	T	0.69015	0.3064	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.996;1.0	D;D;D;D	0.97110	1.0;0.971;0.941;1.0	T	0.64694	-0.6347	10	0.26408	T	0.33	.	14.9518	0.71080	0.0:0.0:1.0:0.0	.	73;73;73;73	F5GYU4;F5H7U3;P20273;P20273-2	.;.;CD22_HUMAN;.	R	73	ENSP00000085219:G73R;ENSP00000442279:G73R;ENSP00000339349:G73R;ENSP00000441237:G73R	ENSP00000085219:G73R	G	+	1	0	CD22	40515472	0.994000	0.37717	0.861000	0.33841	0.006000	0.05464	4.489000	0.60309	2.609000	0.88269	0.563000	0.77884	GGG		0.473	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1		NM_001771		39	99	0	0	0	0.00623	0	39	99		
LGALS4	3960	broad.mit.edu	37	19	39292541	39292541	+	Missense_Mutation	SNP	G	G	C	rs577813567		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:39292541G>C	ENST00000307751.4	-	10	1312	c.835C>G	c.(835-837)Cgc>Ggc	p.R279G		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	279	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			AAGCCACAGCGAATGGACAGC	0.562																																						uc002ojg.2		NaN																	0				ovary(1)|skin(1)	2						c.(835-837)CGC>GGC		galectin-4							96.0	87.0	90.0					19																	39292541		2203	4300	6503	SO:0001583	missense	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39292541G>C		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.835C>G	19.37:g.39292541G>C	ENSP00000302100:p.Arg279Gly						p.R279G	NM_006149	NP_006140	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		10	1049	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		279			Galectin 2.			Missense_Mutation	SNP	ENST00000307751.4	37	c.835C>G	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.961651	0.74016	.	.	ENSG00000171747	ENST00000307751	T	0.11930	2.73	5.14	5.14	0.70334	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.181349	0.48286	D	0.000194	T	0.47563	0.1452	M	0.93197	3.39	0.48236	D	0.999615	D	0.76494	0.999	D	0.79784	0.993	T	0.56456	-0.7976	10	0.27082	T	0.32	-21.1339	17.3497	0.87320	0.0:0.0:1.0:0.0	.	279	P56470	LEG4_HUMAN	G	279	ENSP00000302100:R279G	ENSP00000302100:R279G	R	-	1	0	LGALS4	43984381	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	4.247000	0.58750	2.397000	0.81536	0.491000	0.48974	CGC		0.562	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1		NM_006149		47	113	0	0	0	0.00361	0	47	113		
EID2	163126	broad.mit.edu	37	19	40030040	40030040	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:40030040A>C	ENST00000390658.2	-	1	830	c.680T>G	c.(679-681)cTt>cGt	p.L227R		NM_153232.3	NP_694964.3			EP300 interacting inhibitor of differentiation 2											large_intestine(2)|lung(1)|urinary_tract(1)	4	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			ATCGCAACCAAGTTCTTCTAT	0.413																																						uc002oma.2		NaN																	0					0						c.(679-681)CTT>CGT		CREBBP/EP300 inhibitor 2							99.0	93.0	95.0					19																	40030040		1907	4131	6038	SO:0001583	missense	163126				cell differentiation|muscle organ development|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|regulation of cell proliferation|SMAD protein complex assembly|transcription, DNA-dependent|transforming growth factor beta receptor complex assembly	nucleus	SMAD binding	g.chr19:40030040A>C	BC030137	CCDS12540.2	19q13.2	2008-10-24	2006-10-12	2006-10-12	ENSG00000176396	ENSG00000176396			28292	protein-coding gene	gene with protein product		609773	"""CREBBP/EP300 inhibitory protein 2"", ""CREBBP/EP300 inhibitor 2"""	CRI2		14585496	Standard	NM_153232		Approved	EID-2, MGC20452	uc002oma.3	Q8N6I1	OTTHUMG00000074073	ENST00000390658.2:c.680T>G	19.37:g.40030040A>C	ENSP00000375073:p.Leu227Arg						p.L227R	NM_153232	NP_694964	Q8N6I1	EID2_HUMAN	Epithelial(26;3.2e-25)|all cancers(26;8.83e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)		1	799	-	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		227						Missense_Mutation	SNP	ENST00000390658.2	37	c.680T>G	CCDS12540.2	.	.	.	.	.	.	.	.	.	.	.	20.3	3.974597	0.74360	.	.	ENSG00000176396	ENST00000390658;ENST00000539700	T	0.55930	0.49	3.5	3.5	0.40072	.	0.000000	0.34338	N	0.004050	T	0.64702	0.2622	L	0.56769	1.78	0.35203	D	0.774442	D	0.89917	1.0	D	0.87578	0.998	T	0.73777	-0.3876	10	0.87932	D	0	.	8.7507	0.34613	1.0:0.0:0.0:0.0	.	227	Q8N6I1	EID2_HUMAN	R	227;178	ENSP00000375073:L227R	ENSP00000375073:L227R	L	-	2	0	EID2	44721880	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	2.815000	0.48018	1.843000	0.53566	0.520000	0.50463	CTT		0.413	EID2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157251.1		NM_153232		25	80	0	0	0	0.004656	0	25	80		
PRX	57716	broad.mit.edu	37	19	40901699	40901699	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:40901699G>A	ENST00000324001.7	-	7	2830	c.2560C>T	c.(2560-2562)Ctg>Ttg	p.L854L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	854					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGAAGGCAGAGTGAGAGAG	0.632																																						uc002onr.2		NaN																	0				ovary(2)	2						c.(2560-2562)CTG>TTG		periaxin isoform 2							69.0	73.0	71.0					19																	40901699		2203	4300	6503	SO:0001819	synonymous_variant	57716				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	g.chr19:40901699G>A	AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.2560C>T	19.37:g.40901699G>A						PRX_uc002onq.2_Silent_p.L715L|PRX_uc002ons.2_3'UTR	p.L854L	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		7	2829	-			854					Q9BXL9|Q9HCF2	Silent	SNP	ENST00000324001.7	37	c.2560C>T	CCDS33028.1																																																																																				0.632	PRX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000462582.1		NM_020956		26	90	0	0	0	0.004656	0	26	90		
CIC	23152	broad.mit.edu	37	19	42797418	42797418	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:42797418G>A	ENST00000575354.2	+	15	3820	c.3780G>A	c.(3778-3780)aaG>aaA	p.K1260K	CIC_ENST00000160740.3_Silent_p.K1258K|CIC_ENST00000572681.2_Silent_p.K2167K	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1260	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)				CCAGCGCCAAGGGCCCTGAGA	0.667			"""Mis, F, S"""		oligodendroglioma																																	uc002otf.1		NaN		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.(3778-3780)AAG>AAA		capicua homolog							7.0	8.0	8.0					19																	42797418		2155	4249	6404	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797418G>A	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.3780G>A	19.37:g.42797418G>A							p.K1260K	NM_015125	NP_055940	Q96RK0	CIC_HUMAN			15	3820	+		Prostate(69;0.00682)	1260			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.3780G>A	CCDS12601.1																																																																																				0.667	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2				3	9	0	0	0	0.004672	0	3	9		
ZNF225	7768	broad.mit.edu	37	19	44635316	44635316	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:44635316G>C	ENST00000262894.6	+	5	829	c.549G>C	c.(547-549)aaG>aaC	p.K183N	ZNF225_ENST00000590612.1_Missense_Mutation_p.K183N|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AATGTGGAAAGAGTTTCTGTT	0.403																																						uc002oyj.1		NaN																	0					0						c.(547-549)AAG>AAC		zinc finger protein 225							85.0	89.0	87.0					19																	44635316		2130	4267	6397	SO:0001583	missense	7768				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44635316G>C	AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.549G>C	19.37:g.44635316G>C	ENSP00000262894:p.Lys183Asn					ZNF225_uc010eje.1_Missense_Mutation_p.K100N|ZNF225_uc010ejf.1_Missense_Mutation_p.K183N	p.K183N	NM_013362	NP_037494	Q9UK10	ZN225_HUMAN			5	792	+		Prostate(69;0.0352)|all_neural(266;0.202)	183			C2H2-type 1.		A8K8S2|Q53F12|Q9NS46|Q9UID8	Missense_Mutation	SNP	ENST00000262894.6	37	c.549G>C	CCDS46100.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922120	0.52653	.	.	ENSG00000256294	ENST00000262894;ENST00000544184	T	0.01209	5.17	2.97	-5.48	0.02592	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04048	0.0113	M	0.73372	2.23	0.09310	N	1	D	0.71674	0.998	D	0.83275	0.996	T	0.02167	-1.1202	9	0.66056	D	0.02	.	7.092	0.25289	0.3058:0.1285:0.5657:0.0	.	183	Q9UK10	ZN225_HUMAN	N	183;147	ENSP00000262894:K183N	ENSP00000262894:K183N	K	+	3	2	ZNF225	49327156	0.000000	0.05858	0.000000	0.03702	0.341000	0.28922	-1.117000	0.03283	-0.924000	0.03780	-0.291000	0.09656	AAG		0.403	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460581.1				25	91	0	0	0	0.00278	0	25	91		
ZNF180	7733	broad.mit.edu	37	19	44980836	44980836	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:44980836G>C	ENST00000221327.4	-	5	2143	c.1862C>G	c.(1861-1863)aCt>aGt	p.T621S	AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000391956.4_Missense_Mutation_p.T596S|ZNF180_ENST00000592529.1_Missense_Mutation_p.T594S|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	621					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTGATGTTGAGTAAGGCATGA	0.398																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.3		NaN																	0				ovary(2)	2						c.(1861-1863)ACT>AGT		zinc finger protein 180							127.0	126.0	127.0					19																	44980836		2203	4300	6503	SO:0001583	missense	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44980836G>C	AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.1862C>G	19.37:g.44980836G>C	ENSP00000221327:p.Thr621Ser					ZNF180_uc002ozh.3_Missense_Mutation_p.T278S|ZNF180_uc002ozi.3_Missense_Mutation_p.T594S|ZNF180_uc002ozg.3_Missense_Mutation_p.T620S|ZNF180_uc010ejm.2_Missense_Mutation_p.T596S	p.T621S	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			5	2144	-		Prostate(69;0.0435)	621			C2H2-type 10.		B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	c.1862C>G	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	11.79	1.744534	0.30865	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.16743	2.32;2.32	5.66	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.163537	0.29212	N	0.012818	T	0.07503	0.0189	N	0.05467	-0.045	0.19775	N	0.999956	B;B;B	0.12013	0.004;0.005;0.005	B;B;B	0.12156	0.004;0.007;0.007	T	0.24584	-1.0156	10	0.40728	T	0.16	-3.7683	6.2557	0.20872	0.1515:0.0:0.5938:0.2547	.	596;620;621	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	S	621;596	ENSP00000221327:T621S;ENSP00000375818:T596S	ENSP00000221327:T621S	T	-	2	0	ZNF180	49672676	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.096000	0.15147	1.399000	0.46721	0.591000	0.81541	ACT		0.398	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1		NM_013256		43	89	0	0	0	0.006999	0	43	89		
ERCC2	2068	broad.mit.edu	37	19	45871992	45871992	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:45871992C>G	ENST00000391945.4	-	5	333	c.256G>C	c.(256-258)Gag>Cag	p.E86Q	ERCC2_ENST00000485403.2_Missense_Mutation_p.E62Q|ERCC2_ENST00000391944.3_Missense_Mutation_p.E86Q|ERCC2_ENST00000391940.4_Missense_Mutation_p.E62Q|ERCC2_ENST00000221481.6_Missense_Mutation_p.E86Q	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	86	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		TTTCGAAGCTCTTCAATCACC	0.562			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			0				lung(2)|pancreas(1)	3						c.(256-258)GAG>CAG	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							33.0	33.0	33.0					19																	45871992		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45871992C>G		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.256G>C	19.37:g.45871992C>G	ENSP00000375809:p.Glu86Gln					ERCC2_uc010ejz.2_Missense_Mutation_p.E86Q|ERCC2_uc002pbk.2_Missense_Mutation_p.E62Q|ERCC2_uc002pbl.3_Missense_Mutation_p.E62Q|ERCC2_uc010xxj.1_RNA	p.E86Q	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	5	303	-		Ovarian(192;0.0728)|all_neural(266;0.112)	86			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.256G>C	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974327	0.74246	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940;ENST00000221481	T;T;T;T	0.78126	-1.15;-0.7;-1.15;-1.15	5.09	5.09	0.68999	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.90607	0.7055	M	0.92077	3.27	0.80722	D	1	D;D;D	0.89917	0.961;1.0;0.998	P;D;D	0.87578	0.564;0.998;0.982	D	0.92584	0.6077	10	0.87932	D	0	-27.9959	16.032	0.80585	0.0:1.0:0.0:0.0	.	86;62;86	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	Q	36;62;86;86;62;86	ENSP00000375809:E86Q;ENSP00000375808:E86Q;ENSP00000375804:E62Q;ENSP00000221481:E86Q	ENSP00000221481:E86Q	E	-	1	0	ERCC2	50563832	1.000000	0.71417	0.831000	0.32960	0.511000	0.34104	6.371000	0.73119	2.637000	0.89404	0.561000	0.74099	GAG		0.562	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		7	26	0	0	0	0.001984	0	7	26		
IGFL4	444882	broad.mit.edu	37	19	46543538	46543538	+	Missense_Mutation	SNP	C	C	A	rs148950533	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:46543538C>A	ENST00000377697.1	-	3	260	c.207G>T	c.(205-207)tgG>tgT	p.W69C	IGFL4_ENST00000595006.1_5'Flank|IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	69						extracellular space (GO:0005615)				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GGAAGCAGGGCCAGAAGGTGC	0.592																																						uc002pdy.1		NaN																	0					0						c.(205-207)TGG>TGT		IGF-like family member 4 precursor							44.0	47.0	46.0					19																	46543538		2199	4300	6499	SO:0001583	missense	444882					extracellular region		g.chr19:46543538C>A	AY672114	CCDS33057.1	19q13.32	2006-07-14							32931	protein-coding gene	gene with protein product		610547				14702039	Standard	NM_001002923		Approved		uc002pdy.1	Q6B9Z1		ENST00000377697.1:c.207G>T	19.37:g.46543538C>A	ENSP00000366926:p.Trp69Cys						p.W69C	NM_001002923	NP_001002923	Q6B9Z1	IGFL4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)	3	261	-		all_neural(266;0.113)|Ovarian(192;0.127)	69						Missense_Mutation	SNP	ENST00000377697.1	37	c.207G>T	CCDS33057.1	.	.	.	.	.	.	.	.	.	.	c	12.37	1.918272	0.33908	.	.	ENSG00000204869	ENST00000377697	T	0.26660	1.72	2.3	-0.221	0.13126	.	0.777824	0.10590	N	0.656922	T	0.16557	0.0398	L	0.32530	0.975	0.09310	N	0.999993	D	0.65815	0.995	B	0.43386	0.418	T	0.14254	-1.0479	10	0.48119	T	0.1	.	2.524	0.04687	0.2779:0.5323:0.0:0.1898	.	69	Q6B9Z1	IGFL4_HUMAN	C	69	ENSP00000366926:W69C	ENSP00000366926:W69C	W	-	3	0	IGFL4	51235378	0.001000	0.12720	0.168000	0.22838	0.360000	0.29518	-0.869000	0.04232	0.055000	0.16094	0.388000	0.25769	TGG		0.592	IGFL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461698.1		NM_001002923		26	57	1	0	3.7963e-18	0.00333	4.96195e-18	26	57		
HIF3A	64344	broad.mit.edu	37	19	46825102	46825102	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:46825102A>C	ENST00000377670.4	+	10	1245	c.1214A>C	c.(1213-1215)gAc>gCc	p.D405A	AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000339613.2_Missense_Mutation_p.D349A|HIF3A_ENST00000472815.1_Missense_Mutation_p.D336A|HIF3A_ENST00000420102.2_Missense_Mutation_p.D354A|HIF3A_ENST00000244303.6_Missense_Mutation_p.D336A|HIF3A_ENST00000300862.3_Missense_Mutation_p.D403A|HIF3A_ENST00000600383.1_Missense_Mutation_p.D336A	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	405					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CTGGCCGCTGACCCCCGCCGT	0.692																																						uc002peh.2		NaN																	0				upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	3						c.(1213-1215)GAC>GCC		hypoxia inducible factor 3, alpha subunit							39.0	47.0	44.0					19																	46825102		2200	4298	6498	SO:0001583	missense	64344				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr19:46825102A>C	AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.1214A>C	19.37:g.46825102A>C	ENSP00000366898:p.Asp405Ala					HIF3A_uc002peg.3_Missense_Mutation_p.D405A|HIF3A_uc010xxx.1_RNA|HIF3A_uc002pei.3_Missense_Mutation_p.D349A|HIF3A_uc002pej.1_Missense_Mutation_p.D336A|HIF3A_uc002pek.2_Missense_Mutation_p.D349A|HIF3A_uc010xxy.1_Missense_Mutation_p.D336A|HIF3A_uc002pel.2_Missense_Mutation_p.D403A|HIF3A_uc010xxz.1_Missense_Mutation_p.D354A	p.D405A	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)	10	1243	+		Ovarian(192;0.00965)|all_neural(266;0.0887)	405					B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	ENST00000377670.4	37	c.1214A>C	CCDS12681.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.21|13.21	2.169902|2.169902	0.38315|0.38315	.|.	.|.	ENSG00000124440|ENSG00000124440	ENST00000244302;ENST00000377670;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102|ENST00000472815	T;T;T;T;T|.	0.65549|.	0.59;-0.15;0.46;0.59;-0.16|.	4.98|4.98	4.98|4.98	0.66077|0.66077	.|.	0.000000|.	0.47455|.	D|.	0.000236|.	T|.	0.45498|.	0.1345|.	L|L	0.27053|0.27053	0.805|0.805	0.34263|0.34263	D|D	0.680161|0.680161	D;D;P;D;P;P;D|.	0.89917|.	0.974;1.0;0.94;0.998;0.9;0.9;0.998|.	P;D;P;D;B;B;D|.	0.80764|.	0.806;0.994;0.546;0.991;0.344;0.344;0.991|.	T|.	0.56541|.	-0.7962|.	10|.	0.15499|.	T|.	0.54|.	.|.	11.3632|11.3632	0.49655|0.49655	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	354;336;403;354;349;405;405|.	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185|.	.;.;.;.;.;HIF3A_HUMAN;.|.	A|C	405;405;336;349;349;403;354|377	ENSP00000366898:D405A;ENSP00000244303:D336A;ENSP00000341877:D349A;ENSP00000300862:D403A;ENSP00000407771:D354A|.	ENSP00000244302:D405A|.	D|X	+|+	2|3	0|0	HIF3A|HIF3A	51516942|51516942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.945000|0.945000	0.59286|0.59286	4.596000|4.596000	0.61055|0.61055	2.010000|2.010000	0.58986|0.58986	0.533000|0.533000	0.62120|0.62120	GAC|TGA		0.692	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280556.3				10	131	0	0	0	0.003271	0	10	131		
ARHGAP35	2909	broad.mit.edu	37	19	47422461	47422461	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:47422461C>G	ENST00000404338.3	+	1	529	c.529C>G	c.(529-531)Cag>Gag	p.Q177E		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	177					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CTTTGATGACCAGCTCAAGTT	0.443																																						uc010ekv.2		NaN																	0				central_nervous_system(1)	1						c.(529-531)CAG>GAG		glucocorticoid receptor DNA binding factor 1							113.0	104.0	107.0					19																	47422461		1913	4134	6047	SO:0001583	missense	2909				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity	g.chr19:47422461C>G	M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.529C>G	19.37:g.47422461C>G	ENSP00000385720:p.Gln177Glu						p.Q177E	NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN		all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289)	1	529	+		all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077)	177					A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	ENST00000404338.3	37	c.529C>G	CCDS46127.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.436590	0.62955	.	.	ENSG00000160007	ENST00000317082;ENST00000501576;ENST00000404338	T	0.76448	-1.02	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.89733	0.6800	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90658	0.4588	10	0.87932	D	0	-31.0793	18.7291	0.91728	0.0:1.0:0.0:0.0	.	177	Q9NRY4-2	.	E	177	ENSP00000385720:Q177E	ENSP00000324820:Q177E	Q	+	1	0	ARHGAP35	52114301	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	CAG		0.443	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466652.1		NM_004491		29	100	0	0	0	0.002836	0	29	100		
DHX34	9704	broad.mit.edu	37	19	47865850	47865850	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:47865850G>C	ENST00000328771.4	+	6	1842	c.1493G>C	c.(1492-1494)gGa>gCa	p.G498A	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	498	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ACGGGCCCCGGAGTCTGCTTC	0.657																																						uc010xyn.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(1492-1494)GGA>GCA		DEAH (Asp-Glu-Ala-His) box polypeptide 34							22.0	25.0	24.0					19																	47865850		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47865850G>C	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.1493G>C	19.37:g.47865850G>C	ENSP00000331907:p.Gly498Ala					DHX34_uc010elc.1_Missense_Mutation_p.G413A	p.G498A	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	6	1834	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	498			Helicase C-terminal.		B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.1493G>C	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.463366	0.84425	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.03181	4.02	5.6	5.6	0.85130	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000004	T	0.40372	0.1114	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.69060	-0.5245	10	0.87932	D	0	-47.8042	18.362	0.90377	0.0:0.0:1.0:0.0	.	498	Q14147	DHX34_HUMAN	A	498;413	ENSP00000331907:G498A	ENSP00000257252:G413A	G	+	2	0	DHX34	52557694	1.000000	0.71417	0.990000	0.47175	0.406000	0.30931	9.405000	0.97313	2.637000	0.89404	0.561000	0.74099	GGA		0.657	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3		NM_014681		12	27	0	0	0	0.001855	0	12	27		
PPFIA3	8541	broad.mit.edu	37	19	49652416	49652416	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:49652416G>A	ENST00000334186.4	+	26	3625	c.3276G>A	c.(3274-3276)caG>caA	p.Q1092Q	PPFIA3_ENST00000602351.1_Silent_p.Q1083Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1092	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TCCCCACGCAGAATGCACAGG	0.677																																						uc002pmr.2		NaN																	0				lung(1)	1						c.(3274-3276)CAG>CAA		PTPRF interacting protein alpha 3							38.0	36.0	37.0					19																	49652416		2203	4300	6503	SO:0001819	synonymous_variant	8541					cell surface|cytoplasm	protein binding	g.chr19:49652416G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3276G>A	19.37:g.49652416G>A						PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Silent_p.Q951Q|PPFIA3_uc002pmt.2_Silent_p.Q231Q|PPFIA3_uc002pmu.1_Silent_p.Q141Q	p.Q1092Q	NM_003660	NP_003651	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	26	3608	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	1092			SAM 3.		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	ENST00000334186.4	37	c.3276G>A	CCDS12758.1																																																																																				0.677	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1		NM_003660		16	38	0	0	0	0.006122	0	16	38		
RCN3	57333	broad.mit.edu	37	19	50031853	50031853	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:50031853G>A	ENST00000270645.3	+	2	571	c.124G>A	c.(124-126)Gac>Aac	p.D42N	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	42						endoplasmic reticulum (GO:0005783)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		CCCCCTGAGCGACGCTCCCCA	0.652																																						uc002poj.2		NaN																	0				ovary(1)	1						c.(124-126)GAC>AAC		reticulocalbin 3, EF-hand calcium binding domain							64.0	66.0	65.0					19																	50031853		2203	4300	6503	SO:0001583	missense	57333					endoplasmic reticulum lumen	calcium ion binding|protein binding	g.chr19:50031853G>A	AY195859	CCDS12771.1	19q13.33	2013-01-10				ENSG00000142552		"""EF-hand domain containing"""	21145	protein-coding gene	gene with protein product							Standard	NM_020650		Approved	RLP49	uc002poj.3	Q96D15		ENST00000270645.3:c.124G>A	19.37:g.50031853G>A	ENSP00000270645:p.Asp42Asn						p.D42N	NM_020650	NP_065701	Q96D15	RCN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)	2	571	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	42					Q9HBZ8	Missense_Mutation	SNP	ENST00000270645.3	37	c.124G>A	CCDS12771.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.126307	0.56721	.	.	ENSG00000142552	ENST00000270645	T	0.11169	2.8	4.75	3.63	0.41609	.	0.312830	0.31673	N	0.007255	T	0.07954	0.0199	N	0.25144	0.715	0.38258	D	0.941808	B	0.09022	0.002	B	0.04013	0.001	T	0.23726	-1.0180	10	0.27785	T	0.31	-27.9396	13.6614	0.62370	0.0:0.1564:0.8436:0.0	.	42	Q96D15	RCN3_HUMAN	N	42	ENSP00000270645:D42N	ENSP00000270645:D42N	D	+	1	0	RCN3	54723665	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.919000	0.48836	2.389000	0.81357	0.456000	0.33151	GAC		0.652	RCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465261.1		NM_020650		41	111	0	0	0	0.00874	0	41	111		
PNKP	11284	broad.mit.edu	37	19	50365522	50365522	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:50365522G>A	ENST00000322344.3	-	12	1155	c.1046C>T	c.(1045-1047)tCa>tTa	p.S349L	AC018766.4_ENST00000596624.1_RNA|PNKP_ENST00000596014.1_Missense_Mutation_p.S349L|PNKP_ENST00000600910.1_Missense_Mutation_p.S349L|PNKP_ENST00000600573.1_Missense_Mutation_p.S318L|AC018766.5_ENST00000593654.1_RNA|AC018766.5_ENST00000601893.1_RNA	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	349	Kinase. {ECO:0000250}.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GAGAGGCCCTGAGCGGGAGAC	0.716								Other BER factors																														uc002pqh.2		NaN																	0				ovary(1)|kidney(1)	2						c.(1045-1047)TCA>TTA	Other_BER_factors	polynucleotide kinase 3' phosphatase							18.0	19.0	18.0					19																	50365522		2200	4290	6490	SO:0001583	missense	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50365522G>A	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1046C>T	19.37:g.50365522G>A	ENSP00000323511:p.Ser349Leu					PNKP_uc002pqg.2_Missense_Mutation_p.S130L|PNKP_uc002pqi.2_Missense_Mutation_p.S310L|PNKP_uc002pqj.2_Missense_Mutation_p.S349L|PNKP_uc010enm.2_Missense_Mutation_p.S318L|PNKP_uc002pqk.2_Missense_Mutation_p.S349L	p.S349L	NM_007254	NP_009185	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	11	1098	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	349					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	c.1046C>T	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480213	0.44044	.	.	ENSG00000039650	ENST00000322344	T	0.46819	0.86	5.11	1.58	0.23477	.	1.117690	0.06811	N	0.790343	T	0.33614	0.0869	L	0.34521	1.04	0.09310	N	1	B;B	0.24092	0.097;0.097	B;B	0.23275	0.045;0.045	T	0.26258	-1.0108	10	0.30854	T	0.27	-1.513	3.9342	0.09299	0.0904:0.1601:0.5841:0.1654	.	310;349	Q9BUL2;Q96T60	.;PNKP_HUMAN	L	349	ENSP00000323511:S349L	ENSP00000323511:S349L	S	-	2	0	PNKP	55057334	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.418000	0.21230	0.534000	0.28695	0.561000	0.74099	TCA		0.716	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1		NM_007254		7	19	0	0	0	0.00308	0	7	19		
SHANK1	50944	broad.mit.edu	37	19	51169762	51169762	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:51169762C>G	ENST00000293441.1	-	22	5473	c.5455G>C	c.(5455-5457)Gag>Cag	p.E1819Q	SHANK1_ENST00000391813.1_Missense_Mutation_p.E1206Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.E1810Q|SHANK1_ENST00000391814.1_Missense_Mutation_p.E1827Q|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1819					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)	p.E1819Q(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ACTTCTGGCTCTACAGCCACC	0.726																																						uc002psx.1		NaN																	1	Substitution - Missense(1)		cervix(1)	large_intestine(2)	2						c.(5455-5457)GAG>CAG		SH3 and multiple ankyrin repeat domains 1							5.0	6.0	5.0					19																	51169762		2092	4122	6214	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51169762C>G	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.5455G>C	19.37:g.51169762C>G	ENSP00000293441:p.Glu1819Gln					SHANK1_uc002psw.1_Missense_Mutation_p.E1203Q	p.E1819Q	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	5474	-		all_neural(266;0.057)	1819					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.5455G>C	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	8.018	0.758899	0.15846	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.39592	1.19;1.6;1.17;1.07	2.06	2.06	0.26882	.	4.537710	0.01465	U	0.016020	T	0.34919	0.0914	N	0.12746	0.255	0.27614	N	0.948572	P;D	0.56968	0.92;0.978	B;P	0.50049	0.26;0.629	T	0.44205	-0.9343	10	0.15066	T	0.55	.	9.7994	0.40755	0.0:1.0:0.0:0.0	.	1819;1206	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	Q	1819;1206;1810;1827	ENSP00000293441:E1819Q;ENSP00000375689:E1206Q;ENSP00000351984:E1810Q;ENSP00000375690:E1827Q	ENSP00000293441:E1819Q	E	-	1	0	SHANK1	55861574	0.151000	0.22747	0.776000	0.31678	0.537000	0.34900	3.327000	0.52045	1.460000	0.47911	0.195000	0.17529	GAG		0.726	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1		NM_016148		7	14	0	0	0	0.001984	0	7	14		
LENG9	94059	broad.mit.edu	37	19	54974069	54974069	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:54974069G>A	ENST00000333834.4	-	1	825	c.707C>T	c.(706-708)gCc>gTc	p.A236V		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	236							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCTCTCCTGGGCCGCCTCCAG	0.682																																						uc010yez.1		NaN																	0					0						c.(706-708)GCC>GTC		leukocyte receptor cluster (LRC) member 9							27.0	28.0	27.0					19																	54974069		2071	4097	6168	SO:0001583	missense	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54974069G>A	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.707C>T	19.37:g.54974069G>A	ENSP00000331647:p.Ala236Val						p.A236V	NM_198988	NP_945339	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	826	-	Ovarian(34;0.19)		236					B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	c.707C>T	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	G	9.716	1.158286	0.21454	.	.	ENSG00000182909	ENST00000333834	T	0.30182	1.54	4.31	2.0	0.26442	.	4.306470	0.00597	U	0.000369	T	0.17916	0.0430	N	0.14661	0.345	0.09310	N	1	B	0.26744	0.158	B	0.25614	0.062	T	0.24799	-1.0150	10	0.18276	T	0.48	.	4.1691	0.10320	0.1203:0.0:0.6479:0.2317	.	236	Q96B70	LENG9_HUMAN	V	236	ENSP00000331647:A236V	ENSP00000331647:A236V	A	-	2	0	LENG9	59665881	0.000000	0.05858	0.003000	0.11579	0.024000	0.10985	-3.975000	0.00322	2.120000	0.65058	0.555000	0.69702	GCC		0.682	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3		NM_198988		30	52	0	0	0	0.001786	0	30	52		
EPS8L1	54869	broad.mit.edu	37	19	55593171	55593171	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:55593171G>C	ENST00000201647.6	+	9	861	c.805G>C	c.(805-807)Gag>Cag	p.E269Q	EPS8L1_ENST00000540810.1_Missense_Mutation_p.E205Q|EPS8L1_ENST00000588359.1_Intron|EPS8L1_ENST00000245618.5_Missense_Mutation_p.E142Q|EPS8L1_ENST00000586329.1_Missense_Mutation_p.E251Q|EPS8L1_ENST00000592824.1_3'UTR	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	269					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGACGACGTAGAGAGCTTTGT	0.667																																					Ovarian(149;255 1863 3636 27051 29647)	uc002qis.3		NaN																	0					0						c.(805-807)GAG>CAG		epidermal growth factor receptor pathway							43.0	45.0	44.0					19																	55593171		2203	4300	6503	SO:0001583	missense	54869					cytoplasm		g.chr19:55593171G>C	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.805G>C	19.37:g.55593171G>C	ENSP00000201647:p.Glu269Gln					EPS8L1_uc010ess.1_Missense_Mutation_p.E251Q|EPS8L1_uc010est.1_Missense_Mutation_p.E269Q|EPS8L1_uc010yfr.1_Missense_Mutation_p.E205Q|EPS8L1_uc010esu.1_RNA|EPS8L1_uc002qiu.2_Missense_Mutation_p.E142Q|EPS8L1_uc002qiv.2_5'UTR|EPS8L1_uc002qiw.2_5'Flank	p.E269Q	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)	9	909	+			269					Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	c.805G>C	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409871	0.62399	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618	T;T;T	0.56776	0.44;0.44;0.44	3.83	3.83	0.44106	.	0.135352	0.47852	D	0.000217	T	0.74596	0.3737	M	0.87900	2.915	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.998;1.0;0.992	T	0.80498	-0.1356	10	0.87932	D	0	-19.6659	13.6195	0.62128	0.0:0.0:1.0:0.0	.	205;251;142;269	B4DKV7;Q8TE68-3;Q8TE68-2;Q8TE68	.;.;.;ES8L1_HUMAN	Q	251;269;205;142	ENSP00000201647:E269Q;ENSP00000437541:E205Q;ENSP00000245618:E142Q	ENSP00000201647:E269Q	E	+	1	0	EPS8L1	60284983	1.000000	0.71417	0.999000	0.59377	0.025000	0.11179	8.272000	0.89885	1.868000	0.54150	0.313000	0.20887	GAG		0.667	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451713.1		NM_017729		19	48	0	0	0	0.008871	0	19	48		
NLRP4	147945	broad.mit.edu	37	19	56388434	56388434	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:56388434G>A	ENST00000301295.6	+	8	3020	c.2598G>A	c.(2596-2598)ctG>ctA	p.L866L	NLRP4_ENST00000346986.5_Silent_p.L810L|NLRP4_ENST00000587891.1_Silent_p.L791L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	866					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATCAAAACCTGAAGATTCTGC	0.478																																						uc002qmd.3		NaN																	0				ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1)	15						c.(2596-2598)CTG>CTA		NLR family, pyrin domain containing 4							180.0	175.0	177.0					19																	56388434		2203	4300	6503	SO:0001819	synonymous_variant	147945						ATP binding	g.chr19:56388434G>A	AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.2598G>A	19.37:g.56388434G>A						NLRP4_uc002qmf.2_Silent_p.L791L|NLRP4_uc010etf.2_Silent_p.L641L	p.L866L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN		GBM - Glioblastoma multiforme(193;0.0606)	8	3020	+		Colorectal(82;0.0002)|Ovarian(87;0.221)	866			LRR 6.		Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	c.2598G>A	CCDS12936.1																																																																																				0.478	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2		NM_134444		58	172	0	0	0	0.00361	0	58	172		
ZNF583	147949	broad.mit.edu	37	19	56935524	56935524	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:56935524A>T	ENST00000333201.9	+	5	1707	c.1497A>T	c.(1495-1497)aaA>aaT	p.K499N	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.K499N	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	499					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)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TTTGTGGGAAAGCATTTAGCT	0.393																																						uc010ygl.1		NaN																	0				ovary(1)	1						c.(1495-1497)AAA>AAT		zinc finger protein 583							109.0	114.0	113.0					19																	56935524		2203	4300	6503	SO:0001583	missense	147949				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56935524A>T	AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.1497A>T	19.37:g.56935524A>T	ENSP00000388502:p.Lys499Asn					ZNF583_uc002qnc.2_Missense_Mutation_p.K499N|ZNF583_uc010ygm.1_Missense_Mutation_p.K499N	p.K499N	NM_001159860	NP_001153332	Q96ND8	ZN583_HUMAN		GBM - Glioblastoma multiforme(193;0.0564)	5	1662	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	499			C2H2-type 11.		O14850|Q2NKK3	Missense_Mutation	SNP	ENST00000333201.9	37	c.1497A>T	CCDS12943.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.331553	0.60853	.	.	ENSG00000198440	ENST00000291598;ENST00000333201	T;T	0.07908	3.15;3.15	4.65	0.0826	0.14429	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.47455	D	0.000222	T	0.26412	0.0645	M	0.88775	2.98	0.35202	D	0.774322	D	0.89917	1.0	D	0.97110	1.0	T	0.14337	-1.0476	9	.	.	.	.	5.1079	0.14794	0.5574:0.0:0.3143:0.1283	.	499	Q96ND8	ZN583_HUMAN	N	499	ENSP00000291598:K499N;ENSP00000388502:K499N	.	K	+	3	2	ZNF583	61627336	0.000000	0.05858	0.890000	0.34922	0.977000	0.68977	-2.514000	0.00956	-0.181000	0.10619	-0.290000	0.09829	AAA		0.393	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401453.1		NM_152478		41	95	0	0	0	0.006999	0	41	95		
ZNF264	9422	broad.mit.edu	37	19	57716855	57716855	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr19:57716855G>A	ENST00000263095.6	+	3	665	c.251G>A	c.(250-252)tGt>tAt	p.C84Y	ZNF264_ENST00000536056.1_Missense_Mutation_p.C84Y	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	84	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAAGACACCTGTCCAGGTAGG	0.552																																						uc002qob.2		NaN																	0				ovary(2)	2						c.(250-252)TGT>TAT		zinc finger protein 264							51.0	41.0	45.0					19																	57716855		2203	4300	6503	SO:0001583	missense	9422				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57716855G>A	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.251G>A	19.37:g.57716855G>A	ENSP00000263095:p.Cys84Tyr						p.C84Y	NM_003417	NP_003408	O43296	ZN264_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)	3	664	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	84			KRAB.		A8K8Y9|Q9P1V0	Missense_Mutation	SNP	ENST00000263095.6	37	c.251G>A	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	g	0.007	-1.970163	0.00457	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.24151	1.87;1.87	2.62	-2.25	0.06888	Krueppel-associated box (1);	.	.	.	.	T	0.11922	0.0290	L	0.39085	1.19	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38607	-0.9653	9	0.02654	T	1	.	1.3563	0.02183	0.2239:0.1671:0.4386:0.1704	.	84	O43296	ZN264_HUMAN	Y	84	ENSP00000263095:C84Y;ENSP00000440376:C84Y	ENSP00000263095:C84Y	C	+	2	0	ZNF264	62408667	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	-0.738000	0.04871	-0.390000	0.07774	-0.323000	0.08544	TGT		0.552	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1				7	27	0	0	0	0.00308	0	7	27		
ZNF512	84450	broad.mit.edu	37	2	27821012	27821012	+	Silent	SNP	G	G	A	rs182439295		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:27821012G>A	ENST00000355467.4	+	3	251	c.168G>A	c.(166-168)tcG>tcA	p.S56S	ZNF512_ENST00000379717.1_Silent_p.S55S|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000416005.2_Silent_p.S55S|ZNF512_ENST00000556601.1_5'UTR|ZNF512_ENST00000413371.2_5'UTR|RP11-158I13.2_ENST00000505973.1_RNA	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	56					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(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					GTGGTTCATCGTCTGCATCTT	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		16664	0.0		0.001	False		,,,				2504	0.0					uc002rla.2		NaN																	0				ovary(1)	1						c.(166-168)TCG>TCA		zinc finger protein 512		G		0,4406		0,0,2203	182.0	155.0	164.0		168	-10.6	0.7	2		164	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ZNF512	NM_032434.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		56/568	27821012	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27821012G>A	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.168G>A	2.37:g.27821012G>A						ZNF512_uc010ylv.1_5'UTR|ZNF512_uc010ylw.1_Silent_p.S55S|ZNF512_uc002rlb.2_5'UTR|ZNF512_uc010ylx.1_5'UTR|ZNF512_uc002rlc.2_5'UTR|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_5'UTR	p.S56S	NM_032434	NP_115810	Q96ME7	ZN512_HUMAN			3	255	+	Acute lymphoblastic leukemia(172;0.155)		56					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Silent	SNP	ENST00000355467.4	37	c.168G>A	CCDS1758.1																																																																																				0.408	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2		NM_032434		32	101	0	0	0	0.003755	0	32	101		
PLB1	151056	broad.mit.edu	37	2	28824168	28824168	+	Missense_Mutation	SNP	G	G	T	rs146498076	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:28824168G>T	ENST00000327757.5	+	37	2620	c.2576G>T	c.(2575-2577)gGc>gTc	p.G859V	PLB1_ENST00000422425.2_Missense_Mutation_p.G848V|PLB1_ENST00000541605.1_5'Flank	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	859	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGATCGGAGGCAGCGATTTA	0.453																																						uc002rmb.1		NaN																	0				ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(2575-2577)GGC>GTC		phospholipase B1 precursor							136.0	132.0	133.0					2																	28824168		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28824168G>T		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2576G>T	2.37:g.28824168G>T	ENSP00000330442:p.Gly859Val					PLB1_uc010ezj.1_Missense_Mutation_p.G848V|PLB1_uc002rme.1_5'Flank	p.G859V	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			37	2576	+	Acute lymphoblastic leukemia(172;0.155)		859			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|3.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.2576G>T	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.954|4.954	0.177170|0.177170	0.09443|0.09443	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000404858|ENST00000327757;ENST00000422425	.|T;T	.|0.15139	.|2.45;2.45	5.85|5.85	-4.25|-4.25	0.03766|0.03766	.|Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);	.|1.383000	.|0.04300	.|N	.|0.347110	T|T	0.17831|0.17831	0.0428|0.0428	M|M	0.78637|0.78637	2.42|2.42	0.18873|0.18873	N|N	0.999984|0.999984	.|B;B	.|0.31026	.|0.164;0.304	.|B;B	.|0.26310	.|0.041;0.068	T|T	0.33420|0.33420	-0.9869|-0.9869	5|10	.|0.42905	.|T	.|0.14	-1.9316|-1.9316	3.6037|3.6037	0.08034|0.08034	0.2544:0.4573:0.1578:0.1305|0.2544:0.4573:0.1578:0.1305	.|.	.|848;859	.|Q6P1J6-3;Q6P1J6	.|.;PLB1_HUMAN	S|V	847|859;848	.|ENSP00000330442:G859V;ENSP00000416440:G848V	.|ENSP00000330442:G859V	A|G	+|+	1|2	0|0	PLB1|PLB1	28677672|28677672	0.000000|0.000000	0.05858|0.05858	0.005000|0.005000	0.12908|0.12908	0.107000|0.107000	0.19398|0.19398	-1.333000|-1.333000	0.02667|0.02667	-0.498000|-0.498000	0.06632|0.06632	-0.305000|-0.305000	0.09177|0.09177	GCA|GGC		0.453	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2				21	24	1	0	6.21321e-17	0.00278	8.08029e-17	21	24		
BIRC6	57448	broad.mit.edu	37	2	32626450	32626450	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:32626450G>A	ENST00000421745.2	+	7	1388	c.1254G>A	c.(1252-1254)atG>atA	p.M418I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	418					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCAAACTTATGAAGGTATGTT	0.358																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(1252-1254)ATG>ATA		baculoviral IAP repeat-containing 6							132.0	140.0	137.0					2																	32626450		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32626450G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.1254G>A	2.37:g.32626450G>A	ENSP00000393596:p.Met418Ile						p.M418I	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			7	1388	+	Acute lymphoblastic leukemia(172;0.155)		418					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.1254G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	20.8	4.055133	0.75960	.	.	ENSG00000115760	ENST00000421745	T	0.74002	-0.8	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.81108	0.4754	L	0.44542	1.39	0.80722	D	1	P	0.45126	0.851	P	0.58391	0.838	T	0.78168	-0.2309	10	0.37606	T	0.19	.	19.6727	0.95916	0.0:0.0:1.0:0.0	.	418	Q9NR09	BIRC6_HUMAN	I	418	ENSP00000393596:M418I	ENSP00000393596:M418I	M	+	3	0	BIRC6	32479954	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.807000	0.99171	2.661000	0.90470	0.491000	0.48974	ATG		0.358	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		148	133	0	0	0	0.00361	0	148	133		
BIRC6	57448	broad.mit.edu	37	2	32738069	32738069	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:32738069G>T	ENST00000421745.2	+	54	10550	c.10416G>T	c.(10414-10416)atG>atT	p.M3472I		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3472					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGCAGGATGAACTACATGT	0.418																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(10414-10416)ATG>ATT		baculoviral IAP repeat-containing 6							178.0	155.0	163.0					2																	32738069		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32738069G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.10416G>T	2.37:g.32738069G>T	ENSP00000393596:p.Met3472Ile						p.M3472I	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			54	10550	+	Acute lymphoblastic leukemia(172;0.155)		3472					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.10416G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	10.21	1.286295	0.23478	.	.	ENSG00000115760	ENST00000421745	T	0.73258	-0.73	5.29	4.41	0.53225	.	0.259165	0.44483	N	0.000446	T	0.41190	0.1148	N	0.01576	-0.805	0.33420	D	0.579694	B	0.02656	0.0	B	0.04013	0.001	T	0.47018	-0.9149	10	0.25751	T	0.34	.	10.6837	0.45830	0.0:0.3824:0.4927:0.1248	.	3472	Q9NR09	BIRC6_HUMAN	I	3472	ENSP00000393596:M3472I	ENSP00000393596:M3472I	M	+	3	0	BIRC6	32591573	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	2.762000	0.47597	1.334000	0.45468	-0.314000	0.08810	ATG		0.418	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		54	45	1	0	1.11015e-26	0.00361	1.49105e-26	54	45		
BIRC6	57448	broad.mit.edu	37	2	32832589	32832589	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:32832589G>T	ENST00000421745.2	+	72	14272	c.14138G>T	c.(14137-14139)cGg>cTg	p.R4713L		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4713					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GGATATGAACGGTCTAGAGGC	0.423																																					Pancreas(94;175 1509 16028 18060 45422)	uc010ezu.2		NaN																	0				ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1)	14						c.(14137-14139)CGG>CTG		baculoviral IAP repeat-containing 6							181.0	180.0	180.0					2																	32832589		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32832589G>T	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14138G>T	2.37:g.32832589G>T	ENSP00000393596:p.Arg4713Leu						p.R4713L	NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN			72	14272	+	Acute lymphoblastic leukemia(172;0.155)		4713					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.14138G>T	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	31	5.086352	0.94100	.	.	ENSG00000115760	ENST00000421745	T	0.72167	-0.63	5.31	5.31	0.75309	Ubiquitin-conjugating enzyme, E2 (1);Ubiquitin-conjugating enzyme/RWD-like (2);	0.059511	0.64402	D	0.000002	T	0.79656	0.4483	L	0.41906	1.305	0.80722	D	1	D	0.62365	0.991	D	0.70227	0.968	T	0.81611	-0.0854	10	0.87932	D	0	.	18.9785	0.92747	0.0:0.0:1.0:0.0	.	4713	Q9NR09	BIRC6_HUMAN	L	4713	ENSP00000393596:R4713L	ENSP00000393596:R4713L	R	+	2	0	BIRC6	32686093	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	9.864000	0.99589	2.463000	0.83235	0.585000	0.79938	CGG		0.423	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3		NM_016252		118	90	1	0	6.93263e-47	0.00361	9.44146e-47	118	90		
PLEKHH2	130271	broad.mit.edu	37	2	43989514	43989514	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:43989514A>C	ENST00000282406.4	+	28	4253	c.4143A>C	c.(4141-4143)ttA>ttC	p.L1381F		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1381	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TAAGCCTCTTAGAATACAACT	0.368																																						uc010yny.1		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(4141-4143)TTA>TTC		pleckstrin homology domain containing, family H							141.0	127.0	132.0					2																	43989514		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43989514A>C	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.4143A>C	2.37:g.43989514A>C	ENSP00000282406:p.Leu1381Phe						p.L1381F	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			28	4226	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	1381			FERM.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.4143A>C	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.419160	0.62622	.	.	ENSG00000152527	ENST00000282406	T	0.80909	-1.43	5.19	-3.35	0.04928	FERM domain (1);	0.000000	0.64402	D	0.000001	D	0.86598	0.5971	M	0.81802	2.56	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.84569	0.0654	10	0.52906	T	0.07	-4.8796	10.9964	0.47578	0.259:0.0:0.6301:0.1109	.	1381	Q8IVE3	PKHH2_HUMAN	F	1381	ENSP00000282406:L1381F	ENSP00000282406:L1381F	L	+	3	2	PLEKHH2	43843018	1.000000	0.71417	0.987000	0.45799	0.832000	0.47134	1.159000	0.31749	-0.564000	0.06070	-0.912000	0.02778	TTA		0.368	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1		NM_172069		58	38	0	0	0	0.00361	0	58	38		
XPO1	7514	broad.mit.edu	37	2	61724137	61724137	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:61724137C>T	ENST00000401558.2	-	10	1492	c.765G>A	c.(763-765)ctG>ctA	p.L255L	XPO1_ENST00000406957.1_Silent_p.L255L|XPO1_ENST00000404992.2_Silent_p.L255L	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1	255	Necessary for HTLV-1 Rex-mediated mRNA export.				gene expression (GO:0010467)|intracellular transport of virus (GO:0075733)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein export from nucleus (GO:0006611)|protein localization to nucleus (GO:0034504)|regulation of centrosome duplication (GO:0010824)|regulation of protein catabolic process (GO:0042176)|regulation of protein export from nucleus (GO:0046825)|response to drug (GO:0042493)|ribosomal large subunit export from nucleus (GO:0000055)|ribosomal small subunit export from nucleus (GO:0000056)|RNA metabolic process (GO:0016070)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral life cycle (GO:0019058)|viral process (GO:0016032)	annulate lamellae (GO:0005642)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleocytoplasmic transporter activity (GO:0005487)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TTGGAACATTCAGGAACTATT	0.348			Mis		CLL																																	uc002sbj.2		NaN	-'	Dom	yes		2	2p15	7514		"""exportin 1 (CRM1 homolog, yeast)"""			L					0		p.L255L(1)		ovary(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1)	4						c.(763-765)CTG>CTA		exportin 1							81.0	82.0	82.0					2																	61724137		2203	4300	6503	SO:0001819	synonymous_variant	7514				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding	g.chr2:61724137C>T	Y08614	CCDS33205.1	2p15	2014-02-19	2014-02-19		ENSG00000082898	ENSG00000082898		"""Exportins"""	12825	protein-coding gene	gene with protein product	"""chromosome region maintenance 1 homolog (yeast)"""	602559	"""exportin 1 (CRM1, yeast, homolog)"", ""exportin 1 (CRM1 homolog, yeast)"""			9205132, 9368044	Standard	XM_005264544		Approved	CRM1, emb	uc002sbj.3	O14980	OTTHUMG00000152316	ENST00000401558.2:c.765G>A	2.37:g.61724137C>T						XPO1_uc010fcl.2_Silent_p.L251L|XPO1_uc010ypn.1_Silent_p.L251L|XPO1_uc002sbk.2_5'UTR|XPO1_uc002sbh.2_5'Flank	p.L255L	NM_003400	NP_003391	O14980	XPO1_HUMAN	LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)		10	1493	-			255			Necessary for HTLV-1 Rex-mediated mRNA export.|HEAT 2.		A6NL14|A8K1K5|D6W5E2|Q63HP8|Q68CP3|Q99433	Silent	SNP	ENST00000401558.2	37	c.765G>A	CCDS33205.1																																																																																				0.348	XPO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325872.3		NM_003400		47	24	0	0	0	0.00361	0	47	24		
POLR1A	25885	broad.mit.edu	37	2	86325857	86325857	+	Silent	SNP	A	A	C	rs36023304	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:86325857A>C	ENST00000263857.6	-	3	687	c.309T>G	c.(307-309)tcT>tcG	p.S103S	POLR1A_ENST00000409681.1_Silent_p.S103S			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	103					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGTTTAAACAAGAGCCCCGAA	0.498																																						uc002sqs.2		NaN																	0				ovary(2)|skin(1)	3						c.(307-309)TCT>TCG		DNA-directed RNA polymerase I A							73.0	77.0	76.0					2																	86325857		1954	4147	6101	SO:0001819	synonymous_variant	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86325857A>C	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.309T>G	2.37:g.86325857A>C						POLR1A_uc002sqv.2_Silent_p.S103S	p.S103S	NM_015425	NP_056240	O95602	RPA1_HUMAN			3	688	-			103					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Silent	SNP	ENST00000263857.6	37	c.309T>G	CCDS42706.1																																																																																				0.498	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2		NM_015425		80	47	0	0	0	0.00361	0	80	47		
CNNM3	26505	broad.mit.edu	37	2	97483118	97483118	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:97483118G>A	ENST00000305510.3	+	1	1132	c.1104G>A	c.(1102-1104)ttG>ttA	p.L368L	CNNM3_ENST00000377060.3_Silent_p.L368L	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	368	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TCAAGGACTTGGCCTTCGTGG	0.602																																						uc002swy.2		NaN																	0				ovary(1)	1						c.(1102-1104)TTG>TTA		cyclin M3 isoform 1							144.0	126.0	132.0					2																	97483118		2203	4300	6503	SO:0001819	synonymous_variant	26505				ion transport	integral to membrane|plasma membrane	protein binding	g.chr2:97483118G>A	AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.1104G>A	2.37:g.97483118G>A						CNNM3_uc002swz.2_Silent_p.L368L	p.L368L	NM_017623	NP_060093	Q8NE01	CNNM3_HUMAN			1	1128	+			368			CBS 1.		B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Silent	SNP	ENST00000305510.3	37	c.1104G>A	CCDS2025.1																																																																																				0.602	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252952.2		NM_017623		61	51	0	0	0	0.00361	0	61	51		
IL1F10	84639	broad.mit.edu	37	2	113832888	113832888	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:113832888A>G	ENST00000393197.2	+	4	827	c.406A>G	c.(406-408)Aag>Gag	p.K136E	IL1F10_ENST00000341010.2_Missense_Mutation_p.K136E|IL1F10_ENST00000337569.3_Missense_Mutation_p.K136E	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	136						extracellular space (GO:0005615)				endometrium(1)|lung(6)|ovary(1)	8						ACAGCTCACCAAGGAGAGTGA	0.597																																						uc002tiu.2		NaN																	0				ovary(1)	1						c.(406-408)AAG>GAG		interleukin 1 family, member 10							64.0	67.0	66.0					2																	113832888		2203	4300	6503	SO:0001583	missense	84639					extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	g.chr2:113832888A>G	AY026753	CCDS2112.1	2q13	2011-07-14			ENSG00000136697	ENSG00000136697		"""Interleukins and interleukin receptors"""	15552	protein-coding gene	gene with protein product	"""FIL1- theta"", ""interleukin-1 receptor antagonist FKSG75"""	615296				11747621, 11991723, 11991722	Standard	NM_173161		Approved	FKSG75, IL-1HY2, IL-1F10, IL1-theta, MGC11983, MGC119832, MGC119833	uc002tiu.3	Q8WWZ1	OTTHUMG00000131339	ENST00000393197.2:c.406A>G	2.37:g.113832888A>G	ENSP00000376893:p.Lys136Glu					IL1F10_uc002tiv.2_Missense_Mutation_p.K136E|IL1F10_uc002tiw.2_Missense_Mutation_p.K128E	p.K136E	NM_173161	NP_775184	Q8WWZ1	IL1FA_HUMAN			5	481	+			136					Q53SR9|Q56AT8|Q7RTZ5|Q969H5|Q9BYX1	Missense_Mutation	SNP	ENST00000393197.2	37	c.406A>G	CCDS2112.1	.	.	.	.	.	.	.	.	.	.	A	11.70	1.715969	0.30413	.	.	ENSG00000136697	ENST00000341010;ENST00000337569;ENST00000393197	T;T;T	0.19250	2.16;2.16;2.16	4.87	0.832	0.18867	.	0.844708	0.11172	N	0.591869	T	0.19287	0.0463	M	0.64567	1.98	0.31040	N	0.716413	B;B	0.11235	0.004;0.001	B;B	0.11329	0.006;0.003	T	0.24261	-1.0165	10	0.28530	T	0.3	-10.5493	5.4415	0.16511	0.568:0.3391:0.0929:0.0	.	136;136	Q8WWZ1-2;Q8WWZ1	.;IL1FA_HUMAN	E	136	ENSP00000341794:K136E;ENSP00000338418:K136E;ENSP00000376893:K136E	ENSP00000338418:K136E	K	+	1	0	IL1F10	113549359	0.912000	0.30974	0.792000	0.32020	0.637000	0.38172	0.662000	0.25038	-0.031000	0.13781	0.533000	0.62120	AAG		0.597	IL1F10-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330725.1		NM_173161		93	68	0	0	0	0.00361	0	93	68		
PTPN18	26469	broad.mit.edu	37	2	131127379	131127379	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:131127379C>T	ENST00000175756.5	+	7	626	c.525C>T	c.(523-525)acC>acT	p.T175T	PTPN18_ENST00000347849.3_Silent_p.T68T	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	175	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					TGCTCAGGACCCTCAAGGTCA	0.502																																						uc002trc.2		NaN																	0				ovary(3)|kidney(1)	4						c.(523-525)ACC>ACT		protein tyrosine phosphatase, non-receptor type							59.0	60.0	59.0					2																	131127379		2203	4300	6503	SO:0001819	synonymous_variant	26469					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	g.chr2:131127379C>T	X79568	CCDS2161.1, CCDS46410.1	2q21	2011-06-09			ENSG00000072135	ENSG00000072135		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9649	protein-coding gene	gene with protein product		606587				8950995	Standard	NM_014369		Approved	BDP1	uc002trc.3	Q99952	OTTHUMG00000131630	ENST00000175756.5:c.525C>T	2.37:g.131127379C>T						PTPN18_uc002trd.2_Intron|PTPN18_uc002trb.2_Silent_p.T68T|PTPN18_uc002tre.2_5'Flank	p.T175T	NM_014369	NP_055184	Q99952	PTN18_HUMAN			7	626	+	Colorectal(110;0.1)		175			Tyrosine-protein phosphatase.		B4E1E6|Q53P42	Silent	SNP	ENST00000175756.5	37	c.525C>T	CCDS2161.1																																																																																				0.502	PTPN18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254523.2				33	27	0	0	0	0.003755	0	33	27		
STAM2	10254	broad.mit.edu	37	2	152980445	152980445	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:152980445T>C	ENST00000263904.4	-	13	1533	c.1184A>G	c.(1183-1185)tAt>tGt	p.Y395C		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	395					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTGAACTGGATATGTCTATTA	0.358																																						uc002tyc.3		NaN																	0				ovary(1)	1						c.(1183-1185)TAT>TGT		signal transducing adaptor molecule 2							86.0	81.0	83.0					2																	152980445		2203	4300	6503	SO:0001583	missense	10254				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding	g.chr2:152980445T>C	AF042274	CCDS2196.1	2q23.3	2009-04-29			ENSG00000115145	ENSG00000115145			11358	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	606244				10899310, 10993906	Standard	NM_005843		Approved	Hbp	uc002tyc.4	O75886	OTTHUMG00000131885	ENST00000263904.4:c.1184A>G	2.37:g.152980445T>C	ENSP00000263904:p.Tyr395Cys						p.Y395C	NM_005843	NP_005834	O75886	STAM2_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.22)	13	1534	-			395					A8K8A0|D3DPA1|Q7LDQ0|Q9UF58	Missense_Mutation	SNP	ENST00000263904.4	37	c.1184A>G	CCDS2196.1	.	.	.	.	.	.	.	.	.	.	T	17.00	3.275874	0.59649	.	.	ENSG00000115145	ENST00000263904	T	0.20881	2.04	6.06	4.89	0.63831	.	1.719040	0.02296	N	0.070751	T	0.35508	0.0934	M	0.78801	2.425	0.58432	D	0.99999	B	0.12630	0.006	B	0.15484	0.013	T	0.21245	-1.0251	10	0.56958	D	0.05	-0.7431	12.7775	0.57457	0.1229:0.0:0.0:0.8771	.	395	O75886	STAM2_HUMAN	C	395	ENSP00000263904:Y395C	ENSP00000263904:Y395C	Y	-	2	0	STAM2	152688691	1.000000	0.71417	0.985000	0.45067	0.947000	0.59692	5.712000	0.68407	1.090000	0.41315	-0.327000	0.08410	TAT		0.358	STAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254835.2		NM_005843		51	39	0	0	0	0.00361	0	51	39		
KCNJ3	3760	broad.mit.edu	37	2	155555300	155555300	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:155555300C>T	ENST00000295101.2	+	1	490	c.13C>T	c.(13-15)Cga>Tga	p.R5*	AC061961.2_ENST00000443901.1_RNA|KCNJ3_ENST00000544049.1_Nonsense_Mutation_p.R5*	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	KCNJ3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	5					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|response to electrical stimulus (GO:0051602)|synaptic transmission (GO:0007268)	external side of plasma membrane (GO:0009897)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	GTCTGCACTCCGAAGGAAATT	0.602																																						uc002tyv.1		NaN																	0				upper_aerodigestive_tract(1)|pancreas(1)	2						c.(13-15)CGA>TGA		potassium inwardly-rectifying channel J3	Halothane(DB01159)						41.0	45.0	44.0					2																	155555300		2203	4300	6503	SO:0001587	stop_gained	3760				synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	g.chr2:155555300C>T	U50964	CCDS2200.1, CCDS58733.1	2q24.1	2011-07-05			ENSG00000162989	ENSG00000162989		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6264	protein-coding gene	gene with protein product		601534				8088798, 16382105	Standard	NM_002239		Approved	Kir3.1, GIRK1, KGA	uc002tyv.2	P48549	OTTHUMG00000131937	ENST00000295101.2:c.13C>T	2.37:g.155555300C>T	ENSP00000295101:p.Arg5*					KCNJ3_uc010zce.1_Nonsense_Mutation_p.R5*	p.R5*	NM_002239	NP_002230	P48549	IRK3_HUMAN			1	208	+			5			Cytoplasmic (By similarity).		B4DEW7|Q8TBI0	Nonsense_Mutation	SNP	ENST00000295101.2	37	c.13C>T	CCDS2200.1	.	.	.	.	.	.	.	.	.	.	C	40	8.467775	0.98825	.	.	ENSG00000162989	ENST00000295101;ENST00000544049	.	.	.	4.6	4.6	0.57074	.	0.144564	0.47455	D	0.000223	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.9891	0.80188	0.0:1.0:0.0:0.0	.	.	.	.	X	5	.	ENSP00000295101:R5X	R	+	1	2	KCNJ3	155263546	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.702000	0.47102	2.112000	0.64535	0.555000	0.69702	CGA		0.602	KCNJ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254890.2		NM_002239		48	50	0	0	0	0.00361	0	48	50		
BAZ2B	29994	broad.mit.edu	37	2	160245986	160245986	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:160245986C>A	ENST00000392783.2	-	21	3581	c.3086G>T	c.(3085-3087)cGg>cTg	p.R1029L	BAZ2B_ENST00000355831.2_Missense_Mutation_p.R995L|BAZ2B_ENST00000343439.5_Missense_Mutation_p.R929L|BAZ2B_ENST00000392782.1_Missense_Mutation_p.R993L|AC008277.1_ENST00000420020.1_RNA	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1029	Lys-rich.				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.R1029L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTGTTTCAACCGCTCTTTTTC	0.294																																						uc002uao.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(3085-3087)CGG>CTG		bromodomain adjacent to zinc finger domain, 2B							159.0	141.0	147.0					2																	160245986		1811	4064	5875	SO:0001583	missense	29994				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr2:160245986C>A	AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.3086G>T	2.37:g.160245986C>A	ENSP00000376534:p.Arg1029Leu					BAZ2B_uc002uap.2_Missense_Mutation_p.R993L	p.R1029L	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN			21	3438	-			1029			Lys-rich.|Potential.		D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	c.3086G>T	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	32	5.115475	0.94339	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439	T;T;T;D	0.85955	1.55;1.55;1.55;-2.05	5.54	5.54	0.83059	.	0.000000	0.31061	U	0.008323	D	0.91150	0.7213	L	0.55481	1.735	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.91485	0.5207	10	0.72032	D	0.01	-7.5071	19.4825	0.95016	0.0:1.0:0.0:0.0	.	993;1029	Q9UIF8-5;Q9UIF8	.;BAZ2B_HUMAN	L	993;1029;995;929	ENSP00000376533:R993L;ENSP00000376534:R1029L;ENSP00000348087:R995L;ENSP00000339670:R929L	ENSP00000339670:R929L	R	-	2	0	BAZ2B	159954232	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	7.751000	0.85126	2.622000	0.88805	0.591000	0.81541	CGG		0.294	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2				12	37	1	0	0.00010058	0.001368	0.000122425	12	37		
PDE11A	50940	broad.mit.edu	37	2	178936328	178936328	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:178936328C>A	ENST00000286063.6	-	1	1154	c.837G>T	c.(835-837)caG>caT	p.Q279H	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	279	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	CCCAGGGGACCTGCACCTCAT	0.522									Primary Pigmented Nodular Adrenocortical Disease, Familial																													uc002ulq.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(835-837)CAG>CAT		phosphodiesterase 11A isoform 4							116.0	105.0	109.0					2																	178936328		2203	4300	6503	SO:0001583	missense	50940	Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr2:178936328C>A	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.837G>T	2.37:g.178936328C>A	ENSP00000286063:p.Gln279His					PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron	p.Q279H	NM_016953	NP_058649	Q9HCR9	PDE11_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		1	1155	-			279			GAF 1.		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	ENST00000286063.6	37	c.837G>T	CCDS33334.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960672	0.34565	.	.	ENSG00000128655	ENST00000286063	T	0.69040	-0.37	5.63	2.8	0.32819	GAF (2);	0.000000	0.85682	D	0.000000	T	0.66723	0.2818	N	0.21545	0.675	0.80722	D	1	D	0.69078	0.997	D	0.68353	0.957	T	0.64206	-0.6462	10	0.39692	T	0.17	.	10.7985	0.46474	0.0:0.7879:0.0:0.2121	.	279	Q9HCR9	PDE11_HUMAN	H	279	ENSP00000286063:Q279H	ENSP00000286063:Q279H	Q	-	3	2	PDE11A	178644574	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.102000	0.31050	0.708000	0.31955	0.655000	0.94253	CAG		0.522	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334313.2				91	81	1	0	3.07327e-39	0.00361	4.16361e-39	91	81		
TTN	7273	broad.mit.edu	37	2	179422610	179422610	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:179422610G>T	ENST00000591111.1	-	278	82772	c.82548C>A	c.(82546-82548)ctC>ctA	p.L27516L	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L20217L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Silent_p.L29157L|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.L20284L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.L26589L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.L20092L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27516	Fibronectin type-III 100. {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)			GCTCCCATTTGAGAGTCACAC	0.428																																						uc010zfg.1		NaN																	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.(79765-79767)CTC>CTA		titin isoform N2-A							217.0	215.0	216.0					2																	179422610		1914	4124	6038	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179422610G>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.82548C>A	2.37:g.179422610G>T						uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.L20284L|TTN_uc010zfi.1_Silent_p.L20217L|TTN_uc010zfj.1_Silent_p.L20092L	p.L26589L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		277	79991	-			27516					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.79767C>A																																																																																					0.428	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		130	298	1	0	7.99423e-63	0.00361	1.09446e-62	130	298		
RAPH1	65059	broad.mit.edu	37	2	204360028	204360028	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:204360028T>G	ENST00000319170.5	-	2	348	c.49A>C	c.(49-51)Agt>Cgt	p.S17R	RAPH1_ENST00000439222.1_Missense_Mutation_p.S17R|RAPH1_ENST00000453034.1_Missense_Mutation_p.S17R|RAPH1_ENST00000308091.4_Missense_Mutation_p.S17R|RAPH1_ENST00000374488.2_Missense_Mutation_p.S17R|RAPH1_ENST00000423104.1_Missense_Mutation_p.S17R|RAPH1_ENST00000374489.2_Missense_Mutation_p.S17R|RAPH1_ENST00000418114.1_Missense_Mutation_p.S17R|RAPH1_ENST00000457812.1_Missense_Mutation_p.S17R|RAPH1_ENST00000419464.1_Missense_Mutation_p.S17R|RAPH1_ENST00000374493.3_Missense_Mutation_p.S17R	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	17					axon extension (GO:0048675)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCCTTGTCACTGTCTTCTTCA	0.413																																						uc002vad.2		NaN																	0				ovary(3)|breast(3)|central_nervous_system(2)|lung(1)|skin(1)	10						c.(49-51)AGT>CGT		Ras association and pleckstrin homology domains							183.0	167.0	172.0					2																	204360028		2203	4300	6503	SO:0001583	missense	65059				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane		g.chr2:204360028T>G	AJ584699	CCDS2359.1, CCDS2360.1	2q33	2013-01-10	2003-11-25	2003-11-26	ENSG00000173166	ENSG00000173166		"""Pleckstrin homology (PH) domain containing"""	14436	protein-coding gene	gene with protein product	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 18"""	609035	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 9"""	ALS2CR9, ALS2CR18			Standard	NM_203365		Approved	KIAA1681	uc002vad.3	Q70E73	OTTHUMG00000132876	ENST00000319170.5:c.49A>C	2.37:g.204360028T>G	ENSP00000316543:p.Ser17Arg					RAPH1_uc002vae.2_Missense_Mutation_p.S17R|RAPH1_uc002vaf.2_Missense_Mutation_p.S17R	p.S17R	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN			2	274	-			17					Q96Q37|Q9C0I2	Missense_Mutation	SNP	ENST00000319170.5	37	c.49A>C	CCDS2359.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.068845	0.76301	.	.	ENSG00000173166	ENST00000457812;ENST00000319170;ENST00000374493;ENST00000374489;ENST00000374488;ENST00000308091;ENST00000439222;ENST00000419464;ENST00000423104;ENST00000453034;ENST00000432342;ENST00000418114;ENST00000413201;ENST00000428637;ENST00000420371	T;T;T;T;T;T;T;T;T;T;T	0.70045	-0.31;-0.19;-0.23;-0.45;-0.39;-0.23;-0.39;-0.31;-0.45;-0.23;-0.32	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000010	T	0.79046	0.4380	L	0.55481	1.735	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.83275	0.996;0.986;0.994	T	0.80926	-0.1164	10	0.87932	D	0	-14.0095	16.1171	0.81314	0.0:0.0:0.0:1.0	.	17;17;17	Q70E73-6;C9K0J5;Q70E73	.;.;RAPH1_HUMAN	R	17	ENSP00000392854:S17R;ENSP00000316543:S17R;ENSP00000363617:S17R;ENSP00000363613:S17R;ENSP00000363612:S17R;ENSP00000311293:S17R;ENSP00000411138:S17R;ENSP00000390578:S17R;ENSP00000397751:S17R;ENSP00000406662:S17R;ENSP00000396711:S17R	ENSP00000311293:S17R	S	-	1	0	RAPH1	204068273	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.698000	0.84413	2.212000	0.71576	0.459000	0.35465	AGT		0.413	RAPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256363.2		NM_025252		73	64	0	0	0	0.00361	0	73	64		
GPR1	2825	broad.mit.edu	37	2	207041473	207041473	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:207041473G>C	ENST00000407325.2	-	3	861	c.499C>G	c.(499-501)Cta>Gta	p.L167V	GPR1_ENST00000437420.1_Missense_Mutation_p.L167V	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	167					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		CCGCCAATTAGAGAAGCCAAA	0.433																																						uc002vbl.3		NaN																	0					0						c.(499-501)CTA>GTA		G protein-coupled receptor 1							84.0	86.0	85.0					2																	207041473		2203	4300	6503	SO:0001583	missense	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041473G>C		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.499C>G	2.37:g.207041473G>C	ENSP00000384345:p.Leu167Val					GPR1_uc010fue.2_Missense_Mutation_p.L167V|GPR1_uc010fuf.2_Missense_Mutation_p.L167V	p.L167V	NM_005279	NP_005270	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	3	885	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	167			Helical; Name=4; (Potential).		A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	ENST00000407325.2	37	c.499C>G	CCDS2368.1	.	.	.	.	.	.	.	.	.	.	G	9.786	1.176593	0.21704	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.85	3.99	0.46301	GPCR, rhodopsin-like superfamily (1);	0.482519	0.20743	N	0.086501	T	0.27798	0.0684	L	0.35288	1.05	0.09310	N	1	B	0.21071	0.051	B	0.22152	0.038	T	0.12041	-1.0563	10	0.24483	T	0.36	.	5.6999	0.17877	0.0664:0.1083:0.5059:0.3194	.	167	P46091	GPR1_HUMAN	V	167	ENSP00000384345:L167V;ENSP00000397535:L167V;ENSP00000414836:L167V;ENSP00000391146:L167V	ENSP00000384345:L167V	L	-	1	2	GPR1	206749718	0.000000	0.05858	0.916000	0.36221	0.961000	0.63080	0.002000	0.13061	1.471000	0.48121	0.655000	0.94253	CTA		0.433	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2		NM_001098199		33	35	0	0	0	0.002096	0	33	35		
PRLH	51052	broad.mit.edu	37	2	238475309	238475309	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:238475309G>A	ENST00000165524.1	+	1	93	c.93G>A	c.(91-93)gaG>gaA	p.E31E		NM_015893.1	NP_056977.1	P81277	PRRP_HUMAN	prolactin releasing hormone	31					autonomic nervous system development (GO:0048483)|energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	hormone activity (GO:0005179)			endometrium(1)|large_intestine(1)	2		Lung NSC(271;0.142)|all_lung(227;0.175)		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)		ACTCCATGGAGATCCGCAGTG	0.652																																						uc010znl.1		NaN																	0					0						c.(91-93)GAG>GAA		prolactin releasing hormone precursor							49.0	39.0	42.0					2																	238475309		2193	4282	6475	SO:0001819	synonymous_variant	51052					extracellular region		g.chr2:238475309G>A	AB015419	CCDS2519.1	2q37.3	2013-02-28			ENSG00000071677	ENSG00000071677		"""Endogenous ligands"""	17945	protein-coding gene	gene with protein product		602663				9607765	Standard	NM_015893		Approved	PRH	uc010znl.2	P81277	OTTHUMG00000133296	ENST00000165524.1:c.93G>A	2.37:g.238475309G>A							p.E31E	NM_015893	NP_056977	P81277	PRRP_HUMAN		Epithelial(121;8.28e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.03e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000329)|Lung(119;0.0106)|LUSC - Lung squamous cell carcinoma(224;0.0249)	1	93	+		Lung NSC(271;0.142)|all_lung(227;0.175)	31						Silent	SNP	ENST00000165524.1	37	c.93G>A	CCDS2519.1																																																																																				0.652	PRLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257081.1		NM_015893		3	3	0	0	0	0.004672	0	3	3		
ZCCHC3	85364	broad.mit.edu	37	20	279103	279103	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:279103G>T	ENST00000382352.3	+	1	1367	c.876G>T	c.(874-876)ggG>ggT	p.G292G		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	292							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			ACAGGTTTGGGATCTGGACCG	0.647																																						uc002wdf.2		NaN																	0					0						c.(871-873)GGG>GGT		zinc finger, CCHC domain containing 3							63.0	69.0	67.0					20																	279103		2068	4207	6275	SO:0001819	synonymous_variant	85364						nucleic acid binding|zinc ion binding	g.chr20:279103G>T	AL034548	CCDS42844.1	20p13-p12.2	2014-04-10	2004-07-14	2004-07-14	ENSG00000177764	ENSG00000247315		"""Zinc fingers, CCHC domain containing"""	16230	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 99"""	C20orf99			Standard	NM_033089		Approved	dJ1103G7.7	uc002wdf.3	Q9NUD5	OTTHUMG00000188280	ENST00000382352.3:c.876G>T	20.37:g.279103G>T						ZCCHC3_uc002wdg.2_RNA	p.G291G	NM_033089	NP_149080	Q9NUD5	ZCHC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(29;0.149)		2	897	+		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	292					Q3B7J3|Q6NT79	Silent	SNP	ENST00000382352.3	37	c.873G>T	CCDS42844.1																																																																																				0.647	ZCCHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077447.1				34	106	1	0	2.48696e-23	0.003271	3.31169e-23	34	106		
TBC1D20	128637	broad.mit.edu	37	20	419827	419827	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:419827C>T	ENST00000354200.4	-	7	1028	c.881G>A	c.(880-882)aGa>aAa	p.R294K	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	294					acrosome assembly (GO:0001675)|cargo loading into COPII-coated vesicle (GO:0090110)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|lens fiber cell morphogenesis (GO:0070309)|lipid particle organization (GO:0034389)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|seminiferous tubule development (GO:0072520)|virion assembly (GO:0019068)	endoplasmic reticulum membrane (GO:0005789)|integral component of Golgi membrane (GO:0030173)|nuclear membrane (GO:0031965)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GTCTCCTGCTCTGCTGATCAG	0.582																																						uc002wds.2		NaN																	0				central_nervous_system(1)	1						c.(880-882)AGA>AAA		TBC1 domain family, member 20							112.0	94.0	100.0					20																	419827		2203	4300	6503	SO:0001583	missense	128637				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity	g.chr20:419827C>T	AK055573	CCDS13002.1	20p13	2013-07-10	2005-01-05	2005-01-05	ENSG00000125875	ENSG00000125875			16133	protein-coding gene	gene with protein product		611663	"""chromosome 20 open reading frame 140"""	C20orf140		17901050	Standard	XM_005260661		Approved	dJ852M4.2	uc002wds.3	Q96BZ9	OTTHUMG00000031637	ENST00000354200.4:c.881G>A	20.37:g.419827C>T	ENSP00000346139:p.Arg294Lys					TBC1D20_uc002wdv.2_Missense_Mutation_p.R117K|TBC1D20_uc002wdt.2_RNA|TBC1D20_uc002wdu.2_RNA	p.R294K	NM_144628	NP_653229	Q96BZ9	TBC20_HUMAN			7	1019	-		all_epithelial(17;0.228)|Breast(17;0.231)	294					A8K6I3|B9A6M1|Q5JWQ7|Q6ZSY8|Q96NE1|Q9BYM7|Q9H140	Missense_Mutation	SNP	ENST00000354200.4	37	c.881G>A	CCDS13002.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232301	0.58777	.	.	ENSG00000125875	ENST00000354200;ENST00000246077	T	0.20463	2.07	5.54	5.54	0.83059	Rab-GAP/TBC domain (1);	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	L	0.43152	1.355	0.58432	D	0.999999	B	0.11235	0.004	B	0.09377	0.004	T	0.04281	-1.0963	10	0.06625	T	0.88	-17.5825	13.8775	0.63662	0.0:0.9255:0.0:0.0745	.	294	Q96BZ9	TBC20_HUMAN	K	294;319	ENSP00000346139:R294K	ENSP00000246077:R319K	R	-	2	0	TBC1D20	367827	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.627000	0.54252	2.884000	0.98904	0.655000	0.94253	AGA		0.582	TBC1D20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251397.2		NM_144628		12	43	0	0	0	0.000978	0	12	43		
SNPH	9751	broad.mit.edu	37	20	1286301	1286301	+	Nonsense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:1286301C>G	ENST00000381873.3	+	6	1324	c.1088C>G	c.(1087-1089)tCa>tGa	p.S363*	SNPH_ENST00000381867.1_Nonsense_Mutation_p.S407*	NM_014723.2	NP_055538.2	O15079	SNPH_HUMAN	syntaphilin	363					brain development (GO:0007420)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|synaptic vesicle docking involved in exocytosis (GO:0016081)	cell junction (GO:0030054)|cytoplasmic microtubule (GO:0005881)|integral component of membrane (GO:0016021)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)	syntaxin-1 binding (GO:0017075)			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GACCCCAACTCAGCAGTGGTG	0.657																																						uc002wes.2		NaN																	0				ovary(2)	2						c.(1087-1089)TCA>TGA		syntaphilin							52.0	54.0	54.0					20																	1286301		2203	4300	6503	SO:0001587	stop_gained	9751				synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding	g.chr20:1286301C>G		CCDS13012.1	20p13	2008-07-02			ENSG00000101298	ENSG00000101298			15931	protein-coding gene	gene with protein product		604942				10707983	Standard	NM_014723		Approved	bA314N13.5	uc002wes.3	O15079	OTTHUMG00000031662	ENST00000381873.3:c.1088C>G	20.37:g.1286301C>G	ENSP00000371297:p.Ser363*					SNPH_uc002wet.2_Nonsense_Mutation_p.S407*	p.S363*	NM_014723	NP_055538	O15079	SNPH_HUMAN			6	1324	+			363					Q8IYI3	Nonsense_Mutation	SNP	ENST00000381873.3	37	c.1088C>G	CCDS13012.1	.	.	.	.	.	.	.	.	.	.	C	35	5.465012	0.96257	.	.	ENSG00000101298	ENST00000381873;ENST00000381867	.	.	.	4.95	4.0	0.46444	.	0.262538	0.31519	N	0.007501	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-4.7389	12.986	0.58592	0.0:0.9208:0.0:0.0792	.	.	.	.	X	363;407	.	ENSP00000371291:S407X	S	+	2	0	SNPH	1234301	0.053000	0.20554	0.893000	0.35052	0.484000	0.33280	3.147000	0.50639	1.305000	0.44909	0.561000	0.74099	TCA		0.657	SNPH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145240.2		NM_014723		20	71	0	0	0	0.007413	0	20	71		
TGM6	343641	broad.mit.edu	37	20	2413168	2413168	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:2413168C>A	ENST00000202625.2	+	13	2061	c.2000C>A	c.(1999-2001)tCa>tAa	p.S667*	TGM6_ENST00000381423.1_Silent_p.L622L	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	667					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GAGAGGGCCTCAGTCCAGTTT	0.587																																						uc002wfy.1		NaN																	0				ovary(3)|skin(1)	4						c.(1999-2001)TCA>TAA		transglutaminase 6	L-Glutamine(DB00130)						109.0	91.0	97.0					20																	2413168		2203	4300	6503	SO:0001587	stop_gained	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2413168C>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.2000C>A	20.37:g.2413168C>A	ENSP00000202625:p.Ser667*					TGM6_uc010gal.1_Silent_p.L622L	p.S667*	NM_198994	NP_945345	O95932	TGM3L_HUMAN			13	2061	+			667					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Nonsense_Mutation	SNP	ENST00000202625.2	37	c.2000C>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876890	0.91664	.	.	ENSG00000166948	ENST00000202625	.	.	.	4.87	-1.64	0.08318	.	1.191400	0.05928	N	0.634681	.	.	.	.	.	.	0.18873	N	0.999986	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4162	4.0753	0.09901	0.0:0.2765:0.3438:0.3797	.	.	.	.	X	667	.	ENSP00000202625:S667X	S	+	2	0	TGM6	2361168	0.013000	0.17824	0.174000	0.22961	0.905000	0.53344	-0.112000	0.10791	-0.029000	0.13827	0.655000	0.94253	TCA		0.587	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2		NM_198994		34	95	1	0	1.36615e-20	0.002836	1.80378e-20	34	95		
OXT	5020	broad.mit.edu	37	20	3052881	3052881	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:3052881G>A	ENST00000217386.2	+	2	315	c.279G>A	c.(277-279)ggG>ggA	p.G93G		NM_000915.2	NP_000906.1	P01178	NEU1_HUMAN	oxytocin/neurophysin I prepropeptide	93					drinking behavior (GO:0042756)|eating behavior (GO:0042755)|female pregnancy (GO:0007565)|grooming behavior (GO:0007625)|heart development (GO:0007507)|hyperosmotic salinity response (GO:0042538)|male mating behavior (GO:0060179)|maternal aggressive behavior (GO:0002125)|maternal behavior (GO:0042711)|memory (GO:0007613)|negative regulation of blood pressure (GO:0045776)|negative regulation of gastric acid secretion (GO:0060455)|negative regulation of urine volume (GO:0035811)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of female receptivity (GO:0045925)|positive regulation of hindgut contraction (GO:0060450)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of ossification (GO:0045778)|positive regulation of penile erection (GO:0060406)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of heart rate (GO:0002027)|regulation of sensory perception of pain (GO:0051930)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ether (GO:0045472)|response to food (GO:0032094)|response to glucocorticoid (GO:0051384)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|response to prostaglandin E (GO:0034695)|response to retinoic acid (GO:0032526)|response to sucrose (GO:0009744)|signal transduction (GO:0007165)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)				lung(2)	2					Oxytocin(DB00107)	AGGCGTGCGGGAGCGGGGGCC	0.766																																						uc002wht.1		NaN																	0					0						c.(277-279)GGG>GGA		oxytocin-neurophysin I preproprotein	Oxytocin(DB00107)						7.0	9.0	9.0					20																	3052881		2023	4082	6105	SO:0001819	synonymous_variant	5020				signal transduction		neurohypophyseal hormone activity	g.chr20:3052881G>A		CCDS13044.1	20p13	2013-02-28	2012-10-23		ENSG00000101405	ENSG00000101405		"""Endogenous ligands"""	8528	protein-coding gene	gene with protein product	"""oxytocin"", ""neurophysin I"""	167050	"""oxytocin, prepro- (neurophysin I)"", ""oxytocin, prepropeptide"""	OT			Standard	NM_000915		Approved	OXT-NPI, OT-NPI	uc002wht.1	P01178	OTTHUMG00000031724	ENST00000217386.2:c.279G>A	20.37:g.3052881G>A							p.G93G	NM_000915	NP_000906	P01178	NEU1_HUMAN			2	315	+			93					Q3MIG0	Silent	SNP	ENST00000217386.2	37	c.279G>A	CCDS13044.1																																																																																				0.766	OXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077698.2		NM_000915		13	28	0	0	0	0.001855	0	13	28		
CENPB	1059	broad.mit.edu	37	20	3766484	3766484	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:3766484C>T	ENST00000379751.4	-	1	853	c.647G>A	c.(646-648)gGa>gAa	p.G216E	CDC25B_ENST00000379598.5_5'Flank|CDC25B_ENST00000344256.6_5'Flank	NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	216					regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)	centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|satellite DNA binding (GO:0003696)|sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						ACGCGGCCGTCCGTCGCCTCC	0.706																																						uc002wjk.2		NaN																	0					0						c.(646-648)GGA>GAA		centromere protein B							34.0	37.0	36.0					20																	3766484		2144	4158	6302	SO:0001583	missense	1059				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding	g.chr20:3766484C>T	X05299	CCDS13064.1	20p13	2013-11-05	2002-08-29		ENSG00000125817	ENSG00000125817			1852	protein-coding gene	gene with protein product		117140	"""centromere protein B (80kD)"""			8406460, 11884609	Standard	NM_001810		Approved		uc002wjk.3	P07199	OTTHUMG00000031761	ENST00000379751.4:c.647G>A	20.37:g.3766484C>T	ENSP00000369075:p.Gly216Glu					CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank	p.G216E	NM_001810	NP_001801	P07199	CENPB_HUMAN			1	854	-			216					Q96EI4	Missense_Mutation	SNP	ENST00000379751.4	37	c.647G>A	CCDS13064.1	.	.	.	.	.	.	.	.	.	.	c	9.661	1.144098	0.21205	.	.	ENSG00000125817	ENST00000379751	T	0.48522	0.81	4.04	4.04	0.47022	.	.	.	.	.	T	0.25419	0.0618	N	0.01874	-0.695	0.09310	N	1	B	0.18461	0.028	B	0.19946	0.027	T	0.23332	-1.0191	9	0.52906	T	0.07	-6.7531	13.6906	0.62544	0.0:1.0:0.0:0.0	.	216	P07199	CENPB_HUMAN	E	216	ENSP00000369075:G216E	ENSP00000369075:G216E	G	-	2	0	CENPB	3714484	0.983000	0.35010	0.005000	0.12908	0.013000	0.08279	2.199000	0.42715	1.801000	0.52704	0.457000	0.33378	GGA		0.706	CENPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077772.2		NM_001810		32	116	0	0	0	0.003755	0	32	116		
JAG1	182	broad.mit.edu	37	20	10639244	10639244	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:10639244T>A	ENST00000254958.5	-	4	1081	c.566A>T	c.(565-567)gAc>gTc	p.D189V	JAG1_ENST00000423891.2_Missense_Mutation_p.D30V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	189	DSL. {ECO:0000255|PROSITE- ProRule:PRU00377}.				angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ATAGTAGTAGTCATCACAGGT	0.527									Alagille Syndrome																													uc002wnw.2		NaN																	0				lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1)	9						c.(565-567)GAC>GTC		jagged 1 precursor							164.0	141.0	149.0					20																	10639244		2203	4300	6503	SO:0001583	missense	182	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity	g.chr20:10639244T>A	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.566A>T	20.37:g.10639244T>A	ENSP00000254958:p.Asp189Val						p.D189V	NM_000214	NP_000205	P78504	JAG1_HUMAN			4	1082	-			189			Extracellular (Potential).|DSL.		A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Missense_Mutation	SNP	ENST00000254958.5	37	c.566A>T	CCDS13112.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137811	0.56936	.	.	ENSG00000101384	ENST00000254958;ENST00000423891	D;D	0.95885	-3.84;-3.84	5.58	5.58	0.84498	Delta/Serrate/lag-2 (DSL) protein (3);	0.091794	0.64402	D	0.000001	D	0.93726	0.7995	L	0.28054	0.825	0.80722	D	1	B	0.25048	0.117	B	0.39876	0.312	D	0.92164	0.5738	10	0.62326	D	0.03	.	15.7475	0.77958	0.0:0.0:0.0:1.0	.	189	P78504	JAG1_HUMAN	V	189;30	ENSP00000254958:D189V;ENSP00000389519:D30V	ENSP00000254958:D189V	D	-	2	0	JAG1	10587244	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	8.040000	0.89188	2.124000	0.65301	0.460000	0.39030	GAC		0.527	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_000214		37	95	0	0	0	0.005524	0	37	95		
CCM2L	140706	broad.mit.edu	37	20	30602794	30602794	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:30602794C>T	ENST00000300415.8	+	2	131	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	CCM2L_ENST00000262659.8_Missense_Mutation_p.H40Y			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	40																	CCGGCCCCTGCACTCGATGCC	0.637																																						uc002wxf.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(118-120)CAC>TAC		hypothetical protein LOC140706							76.0	74.0	74.0					20																	30602794		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30602794C>T	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.118C>T	20.37:g.30602794C>T	ENSP00000300415:p.His40Tyr						p.H40Y	NM_080625	NP_542192	Q9NUG4	CT160_HUMAN			2	131	+			40					Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37	c.118C>T		.	.	.	.	.	.	.	.	.	.	C	28.4	4.912792	0.92178	.	.	ENSG00000101331	ENST00000300415;ENST00000339619;ENST00000262659	T;T	0.54675	0.56;0.56	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	M	0.79258	2.445	0.54753	D	0.999989	D	0.89917	1.0	D	0.85130	0.997	T	0.77832	-0.2441	10	0.87932	D	0	-48.6475	16.7122	0.85388	0.0:1.0:0.0:0.0	.	40	Q9NUG4-2	.	Y	40	ENSP00000300415:H40Y;ENSP00000262659:H40Y	ENSP00000262659:H40Y	H	+	1	0	C20orf160	30066455	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.154000	0.77437	2.418000	0.82041	0.655000	0.94253	CAC		0.637	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_080625		58	133	0	0	0	0.00361	0	58	133		
SLC2A10	81031	broad.mit.edu	37	20	45355551	45355551	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:45355551G>A	ENST00000359271.2	+	3	1587	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	446					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sugar:proton symporter activity (GO:0005351)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				ATACGAGGAAGAGCCTTCGCC	0.592																																						uc002xsl.2		NaN																	0				ovary(1)	1						c.(1336-1338)AGA>AAA		solute carrier family 2 member 10							163.0	147.0	152.0					20																	45355551		2203	4300	6503	SO:0001583	missense	81031					endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	g.chr20:45355551G>A	AL137188	CCDS13402.1	20q13.12	2013-05-22			ENSG00000197496	ENSG00000197496		"""Solute carriers"""	13444	protein-coding gene	gene with protein product		606145				11247674	Standard	NM_030777		Approved	GLUT10	uc002xsl.3	O95528	OTTHUMG00000032657	ENST00000359271.2:c.1337G>A	20.37:g.45355551G>A	ENSP00000352216:p.Arg446Lys						p.R446K	NM_030777	NP_110404	O95528	GTR10_HUMAN			3	1434	+		Myeloproliferative disorder(115;0.0122)	446			Helical; Name=11; (Potential).		A8K4J6|Q3MIX5|Q9H4I6	Missense_Mutation	SNP	ENST00000359271.2	37	c.1337G>A	CCDS13402.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.614094	0.66672	.	.	ENSG00000197496	ENST00000359271	T	0.80994	-1.44	5.8	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.82199	0.4985	N	0.25957	0.775	0.36700	D	0.880077	D	0.89917	1.0	D	0.87578	0.998	T	0.81221	-0.1031	10	0.17369	T	0.5	-9.5945	15.0756	0.72074	0.0683:0.0:0.9317:0.0	.	446	O95528	GTR10_HUMAN	K	446	ENSP00000352216:R446K	ENSP00000352216:R446K	R	+	2	0	SLC2A10	44788958	1.000000	0.71417	0.397000	0.26308	0.219000	0.24729	9.353000	0.97080	1.453000	0.47775	0.467000	0.42956	AGA		0.592	SLC2A10-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079578.2				48	137	0	0	0	0.003214	0	48	137		
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				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)	p.Q1262Q(1)		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						agcagcagcagcagcaacagc	0.567																																						uc002xtk.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(3)|lung(1)|skin(1)	5						c.(3784-3786)CAG>CAA		nuclear receptor coactivator 3 isoform a		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	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.chr20:46279860G>A	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.3786G>A	20.37:g.46279860G>A						NCOA3_uc010ght.1_Silent_p.Q1253Q|NCOA3_uc002xtl.2_Silent_p.Q1258Q|NCOA3_uc002xtm.2_Silent_p.Q1257Q|NCOA3_uc002xtn.2_Silent_p.Q1261Q|NCOA3_uc010zyc.1_Silent_p.Q1057Q	p.Q1262Q	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN			20	3991	+			1262			Poly-Gln.|Acetyltransferase.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3786G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1		NM_006534		5	70	0	0	0	0.001168	0	5	70		
GNAS	2778	broad.mit.edu	37	20	57485061	57485061	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:57485061G>A	ENST00000371085.3	+	11	1319	c.895G>A	c.(895-897)Gag>Aag	p.E299K	GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000306090.10_Missense_Mutation_p.E285K|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.E928K|GNAS_ENST00000371100.4_Missense_Mutation_p.E942K|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000265620.7_Missense_Mutation_p.E284K|GNAS_ENST00000371095.3_Missense_Mutation_p.E285K|GNAS_ENST00000354359.7_Missense_Mutation_p.E300K	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	299					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TCTGCTCGCTGAGAAAGTCCT	0.507			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	uc002xzw.2		NaN		Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	McCune-Albright syndrome; pseudohypoparathyroidism|type IA	E			pituitary adenoma		0				pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1)	292						c.(2824-2826)GAG>AAG		GNAS complex locus XLas							121.0	118.0	119.0					20																	57485061		2203	4300	6503	SO:0001583	missense	2778	3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome			activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57485061G>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.895G>A	20.37:g.57485061G>A	ENSP00000360126:p.Glu299Lys	TSP Lung(22;0.16)				GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.E240K|GNAS_uc002xzx.2_Missense_Mutation_p.E240K|GNAS_uc010gjr.2_Missense_Mutation_p.E190K|GNAS_uc002xzy.2_Missense_Mutation_p.E225K|GNAS_uc002yaa.2_Missense_Mutation_p.E285K|GNAS_uc010zzt.1_Missense_Mutation_p.E300K|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.E190K|GNAS_uc002yae.2_Missense_Mutation_p.E224K	p.E942K	NM_080425	NP_536350	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		11	3109	+	all_lung(29;0.0104)		299					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371085.3	37	c.2824G>A	CCDS13472.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460960	0.96240	.	.	ENSG00000087460	ENST00000371100;ENST00000371102;ENST00000371095;ENST00000371085;ENST00000354359;ENST00000265620;ENST00000306090;ENST00000371082	D;D;D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49;-2.49;-2.49	5.29	5.29	0.74685	.	0.254413	0.44902	D	0.000405	D	0.94538	0.8241	M	0.80982	2.52	0.80722	D	1	B;P;P;D	0.59357	0.374;0.853;0.822;0.985	P;P;P;D	0.66351	0.655;0.834;0.635;0.943	D	0.94922	0.8074	10	0.87932	D	0	.	19.2712	0.94010	0.0:0.0:1.0:0.0	.	299;300;284;942	P63092;A6NI00;P63092-3;Q5JWF2	GNAS2_HUMAN;.;.;GNAS1_HUMAN	K	942;928;285;299;300;284;285;65	ENSP00000360141:E942K;ENSP00000360143:E928K;ENSP00000360136:E285K;ENSP00000360126:E299K;ENSP00000346328:E300K;ENSP00000265620:E284K;ENSP00000304472:E285K	ENSP00000265620:E284K	E	+	1	0	GNAS	56918456	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.293000	0.96082	2.625000	0.88918	0.591000	0.81541	GAG		0.507	GNAS-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080431.2		NM_000516		67	162	0	0	0	0.00361	0	67	162		
GMEB2	26205	broad.mit.edu	37	20	62229137	62229137	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:62229137G>A	ENST00000266068.1	-	4	912	c.434C>T	c.(433-435)gCc>gTc	p.A145V	GMEB2_ENST00000370069.1_Missense_Mutation_p.A94V|GMEB2_ENST00000370077.1_Missense_Mutation_p.A145V			Q9UKD1	GMEB2_HUMAN	glucocorticoid modulatory element binding protein 2	145	SAND. {ECO:0000255|PROSITE- ProRule:PRU00185}.				regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CATGCGGATGGCTCTCTTCCA	0.597																																						uc002yfp.1		NaN																	0					0						c.(433-435)GCC>GTC		glucocorticoid modulatory element binding							123.0	96.0	105.0					20																	62229137		2203	4300	6503	SO:0001583	missense	26205				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding	g.chr20:62229137G>A	AF173867	CCDS13528.1	20q13.33	2008-07-02			ENSG00000101216	ENSG00000101216			4371	protein-coding gene	gene with protein product		607451				10523663, 11743720	Standard	NM_012384		Approved	P79PIF, KIAA1269, PIF79	uc002yfq.1	Q9UKD1	OTTHUMG00000032988	ENST00000266068.1:c.434C>T	20.37:g.62229137G>A	ENSP00000266068:p.Ala145Val					GMEB2_uc002yfo.1_Missense_Mutation_p.A67V|GMEB2_uc002yfq.1_Missense_Mutation_p.A145V	p.A145V	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)		4	913	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		145			SAND.		E1P5J3|Q5TDS0|Q9H431|Q9H4X7|Q9H4X8|Q9UF78|Q9ULF1	Missense_Mutation	SNP	ENST00000266068.1	37	c.434C>T	CCDS13528.1	.	.	.	.	.	.	.	.	.	.	G	35	5.588818	0.96590	.	.	ENSG00000101216	ENST00000370069;ENST00000370077;ENST00000266068	T;T;T	0.74947	-0.89;-0.89;-0.89	5.23	5.23	0.72850	SAND domain-like (2);SAND domain (3);	0.114545	0.64402	D	0.000015	D	0.84074	0.5392	L	0.56340	1.77	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	D	0.85283	0.1063	10	0.66056	D	0.02	-8.4321	18.7851	0.91951	0.0:0.0:1.0:0.0	.	145	Q9UKD1	GMEB2_HUMAN	V	94;145;145	ENSP00000359086:A94V;ENSP00000359094:A145V;ENSP00000266068:A145V	ENSP00000266068:A145V	A	-	2	0	GMEB2	61699581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.609000	0.98334	2.449000	0.82847	0.561000	0.74099	GCC		0.597	GMEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080166.1		NM_012384		24	48	0	0	0	0.005443	0	24	48		
CLDN17	26285	broad.mit.edu	37	21	31538933	31538933	+	Start_Codon_SNP	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:31538933C>T	ENST00000286808.3	-	1	38	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	1					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GATAAAATGCCATTGCCTTTA	0.468																																						uc011acv.1		NaN																	0				ovary(2)	2						c.(1-3)ATG>ATA		claudin 17							50.0	48.0	49.0					21																	31538933		2203	4300	6503	SO:0001582	initiator_codon_variant	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538933C>T	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.3G>A	21.37:g.31538933C>T	ENSP00000286808:p.Met1Ile						p.M1I	NM_012131	NP_036263	P56750	CLD17_HUMAN			1	3	-			1			Cytoplasmic (Potential).		Q3MJB5|Q6UY37	Missense_Mutation	SNP	ENST00000286808.3	37	c.3G>A	CCDS13586.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086115	0.76642	.	.	ENSG00000156282	ENST00000286808	T	0.62105	0.05	5.04	5.04	0.67666	.	0.339486	0.37715	N	0.001961	T	0.77624	0.4158	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.79577	-0.1746	9	0.87932	D	0	.	11.973	0.53073	0.0:0.92:0.0:0.08	.	1	P56750	CLD17_HUMAN	I	1	ENSP00000286808:M1I	ENSP00000286808:M1I	M	-	3	0	CLDN17	30460804	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.999000	0.49473	2.783000	0.95769	0.655000	0.94253	ATG		0.468	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1		NM_012131	Missense_Mutation	15	59	0	0	0	0.00245	0	15	59		
PAXBP1	94104	broad.mit.edu	37	21	34131446	34131446	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:34131446A>C	ENST00000331923.4	-	7	1517	c.1328T>G	c.(1327-1329)tTt>tGt	p.F443C	PAXBP1_ENST00000290178.4_Missense_Mutation_p.F443C|PAXBP1_ENST00000472588.1_5'UTR	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	443	Necessary and sufficient for interaction with PAX7. {ECO:0000250}.				muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TTCTTGCAAAAATTTATACCG	0.408																																						uc002yqn.2		NaN																	0				ovary(2)	2						c.(1327-1329)TTT>TGT		GC-rich sequence DNA-binding factor candidate							157.0	159.0	158.0					21																	34131446		2203	4299	6502	SO:0001583	missense	94104					cytosol|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr21:34131446A>C	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1328T>G	21.37:g.34131446A>C	ENSP00000328992:p.Phe443Cys					GCFC1_uc002yqm.2_5'Flank|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.F443C	p.F443C	NM_016631	NP_057715	Q9Y5B6	GCFC1_HUMAN			7	1518	-			443					D3DSE7|Q96DU8|Q9NYQ0	Missense_Mutation	SNP	ENST00000331923.4	37	c.1328T>G	CCDS13619.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.922294	0.73213	.	.	ENSG00000159086	ENST00000331923;ENST00000290178	T;T	0.48201	1.23;0.82	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.75425	-0.3322	10	0.87932	D	0	-23.5205	15.662	0.77193	1.0:0.0:0.0:0.0	.	443;443	Q9Y5B6-2;Q9Y5B6	.;GCFC1_HUMAN	C	443	ENSP00000328992:F443C;ENSP00000290178:F443C	ENSP00000290178:F443C	F	-	2	0	GCFC1	33053317	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.905000	0.92613	2.229000	0.72834	0.477000	0.44152	TTT		0.408	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1		NM_013329		64	156	0	0	0	0.00361	0	64	156		
BRWD1	54014	broad.mit.edu	37	21	40574387	40574387	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:40574387C>T	ENST00000333229.2	-	38	4776	c.4449G>A	c.(4447-4449)agG>agA	p.R1483R	BRWD1_ENST00000380800.3_Silent_p.R1483R|BRWD1_ENST00000342449.3_Silent_p.R1483R	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1483					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GATAAGCTGTCCTACTTGAGG	0.428																																					Melanoma(170;988 1986 4794 16843 39731)	uc002yxk.1		NaN																	0				skin(3)|ovary(1)	4						c.(4447-4449)AGG>AGA		bromodomain and WD repeat domain containing 1							98.0	90.0	93.0					21																	40574387		2203	4300	6503	SO:0001819	synonymous_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40574387C>T	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.4449G>A	21.37:g.40574387C>T						BRWD1_uc010goc.1_Silent_p.R126R|BRWD1_uc002yxl.2_Silent_p.R1483R|BRWD1_uc010god.1_Silent_p.R401R	p.R1483R	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN			38	4588	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	1483					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Silent	SNP	ENST00000333229.2	37	c.4449G>A	CCDS13662.1	.	.	.	.	.	.	.	.	.	.	C	6.436	0.448550	0.12223	.	.	ENSG00000185658	ENST00000424441	.	.	.	5.27	2.15	0.27550	.	.	.	.	.	T	0.47021	0.1423	.	.	.	0.41418	D	0.98778	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	-2.3563	4.3721	0.11253	0.1627:0.4684:0.0:0.3689	.	.	.	.	N	421	.	.	D	-	1	0	BRWD1	39496257	0.302000	0.24454	0.852000	0.33557	0.725000	0.41563	0.306000	0.19279	0.635000	0.30488	0.655000	0.94253	GAC		0.428	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3		NM_033656		25	50	0	0	0	0.003954	0	25	50		
MX2	4600	broad.mit.edu	37	21	42780076	42780076	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:42780076G>A	ENST00000330714.3	+	14	2248	c.2064G>A	c.(2062-2064)aaG>aaA	p.K688K		NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	688	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CCGCTACCAAGAGAAGAATCC	0.502																																						uc002yzf.1		NaN																	0				ovary(2)	2						c.(2062-2064)AAG>AAA		myxovirus resistance protein 2							64.0	61.0	62.0					21																	42780076		2203	4300	6503	SO:0001819	synonymous_variant	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42780076G>A		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.2064G>A	21.37:g.42780076G>A						MX2_uc002yzg.1_Silent_p.K411K|MX2_uc010gop.1_Silent_p.K170K	p.K688K	NM_002463	NP_002454	P20592	MX2_HUMAN			14	2168	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	688			GED.		B7Z5D3|D3DSI7	Silent	SNP	ENST00000330714.3	37	c.2064G>A	CCDS13672.1																																																																																				0.502	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1		NM_002463		54	65	0	0	0	0.00361	0	54	65		
PCNT	5116	broad.mit.edu	37	21	47769713	47769713	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr21:47769713C>T	ENST00000359568.5	+	8	1430	c.1323C>T	c.(1321-1323)agC>agT	p.S441S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	441	Glu-rich.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TCAAAGAGAGCGAGAAAGAAA	0.433																																						uc002zji.3		NaN																	0				ovary(4)|breast(2)|pancreas(2)	8						c.(1321-1323)AGC>AGT		pericentrin							78.0	80.0	79.0					21																	47769713		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47769713C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.1323C>T	21.37:g.47769713C>T						PCNT_uc002zjj.2_Silent_p.S323S|PCNT_uc010gqk.1_RNA	p.S441S	NM_006031	NP_006022	O95613	PCNT_HUMAN			8	1430	+	Breast(49;0.112)		441			Glu-rich.|Potential.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.1323C>T	CCDS33592.1																																																																																				0.433	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1		NM_006031		41	66	0	0	0	0.007835	0	41	66		
CCT8L2	150160	broad.mit.edu	37	22	17072837	17072837	+	Missense_Mutation	SNP	G	G	T	rs142343817		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:17072837G>T	ENST00000359963.3	-	1	863	c.604C>A	c.(604-606)Cgt>Agt	p.R202S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	202					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACCCCAACACGCTCAGGCTTG	0.612																																						uc002zlp.1		NaN																	0				ovary(1)	1						c.(604-606)CGT>AGT		T-complex protein 1							65.0	64.0	64.0					22																	17072837		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072837G>T	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.604C>A	22.37:g.17072837G>T	ENSP00000353048:p.Arg202Ser						p.R202S	NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN			1	864	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	202					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.604C>A	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	9.459	1.092508	0.20471	.	.	ENSG00000198445	ENST00000359963	T	0.79554	-1.28	1.98	1.98	0.26296	.	0.514295	0.14781	N	0.298799	T	0.66046	0.2750	N	0.22421	0.69	0.09310	N	1	B	0.14438	0.01	B	0.24701	0.055	T	0.52764	-0.8532	10	0.26408	T	0.33	-2.8792	7.4423	0.27190	0.0:0.0:1.0:0.0	.	202	Q96SF2	TCPQM_HUMAN	S	202	ENSP00000353048:R202S	ENSP00000353048:R202S	R	-	1	0	CCT8L2	15452837	0.012000	0.17670	0.073000	0.20177	0.039000	0.13416	0.093000	0.15086	1.115000	0.41800	0.379000	0.24179	CGT		0.612	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1				29	122	1	0	7.68411e-24	0.008361	1.02499e-23	29	122		
BCL2L13	23786	broad.mit.edu	37	22	18185037	18185037	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:18185037A>C	ENST00000317582.5	+	6	832	c.485A>C	c.(484-486)cAa>cCa	p.Q162P	BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000538149.1_Missense_Mutation_p.Q38P|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000399782.1_Missense_Mutation_p.Q162P|BCL2L13_ENST00000493680.1_Missense_Mutation_p.Q162P	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	162					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		TTGCTACGACAAATGCTTTTG	0.398																																						uc002zmw.2		NaN																	0				ovary(1)|lung(1)|central_nervous_system(1)|skin(1)	4						c.(484-486)CAA>CCA		BCL2-like 13 (apoptosis facilitator)							145.0	141.0	143.0					22																	18185037		2203	4300	6503	SO:0001583	missense	23786				induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity	g.chr22:18185037A>C	AF146568	CCDS13746.1, CCDS59447.1, CCDS59448.1, CCDS74810.1, CCDS74811.1, CCDS74812.1, CCDS74813.1, CCDS74814.1	22q11	2014-03-07			ENSG00000099968	ENSG00000099968			17164	protein-coding gene	gene with protein product						11262395, 11381032	Standard	NM_015367		Approved	MIL1, BCL-RAMBO	uc002zmw.4	Q9BXK5	OTTHUMG00000150088	ENST00000317582.5:c.485A>C	22.37:g.18185037A>C	ENSP00000318883:p.Gln162Pro					BCL2L13_uc002zmu.2_Missense_Mutation_p.Q162P|BCL2L13_uc002zmv.2_Missense_Mutation_p.Q162P|BCL2L13_uc002zmx.2_5'UTR|BCL2L13_uc002zmy.2_Intron|BCL2L13_uc010gqy.2_5'UTR|BCL2L13_uc011agk.1_Missense_Mutation_p.Q38P|BCL2L13_uc010gqz.2_Intron|BCL2L13_uc002zmz.2_5'UTR	p.Q162P	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN		Lung(27;0.199)	6	703	+		all_epithelial(15;0.123)	162					B3KPE7|Q96B37|Q96IB7|Q9BY01|Q9HC05|Q9UFE0|Q9UKN3	Missense_Mutation	SNP	ENST00000317582.5	37	c.485A>C	CCDS13746.1	.	.	.	.	.	.	.	.	.	.	A	12.14	1.849524	0.32699	.	.	ENSG00000099968	ENST00000399782;ENST00000317582;ENST00000538149;ENST00000493680	T;T;T;T	0.04275	3.66;3.66;3.66;3.66	5.8	2.59	0.31030	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (2);	0.448448	0.25503	N	0.030227	T	0.08358	0.0208	L	0.54323	1.7	0.24711	N	0.993203	P;P;P	0.50819	0.939;0.773;0.731	P;P;B	0.49192	0.602;0.478;0.186	T	0.10989	-1.0606	10	0.62326	D	0.03	-0.1013	7.9343	0.29920	0.7702:0.0:0.2298:0.0	.	38;162;162	B7Z238;Q9BXK5;Q9BXK5-2	.;B2L13_HUMAN;.	P	162;162;38;162	ENSP00000382682:Q162P;ENSP00000318883:Q162P;ENSP00000441344:Q38P;ENSP00000434764:Q162P	ENSP00000318883:Q162P	Q	+	2	0	BCL2L13	16565037	0.951000	0.32395	0.011000	0.14972	0.717000	0.41224	1.054000	0.30455	0.476000	0.27440	-0.256000	0.11100	CAA		0.398	BCL2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316184.1		NM_015367		38	162	0	0	0	0.002222	0	38	162		
TRMT2A	27037	broad.mit.edu	37	22	20103676	20103676	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:20103676C>T	ENST00000252136.7	-	2	872	c.484G>A	c.(484-486)Gag>Aag	p.E162K	TRMT2A_ENST00000439169.2_Missense_Mutation_p.E162K|RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.E162K|RANBP1_ENST00000331821.3_5'Flank|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E162K|TRMT2A_ENST00000492988.1_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	162					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						ACTGGTGGCTCACTCTCACCC	0.647																																						uc002zrk.1		NaN																	0				breast(1)	1						c.(484-486)GAG>AAG		HpaII tiny fragments locus 9C							73.0	67.0	69.0					22																	20103676		2203	4300	6503	SO:0001583	missense	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20103676C>T	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.484G>A	22.37:g.20103676C>T	ENSP00000252136:p.Glu162Lys					TRMT2A_uc002zrl.1_Missense_Mutation_p.E162K|TRMT2A_uc002zrm.1_5'UTR|TRMT2A_uc002zrn.1_Missense_Mutation_p.E162K|TRMT2A_uc011ahk.1_Missense_Mutation_p.E162K|RANBP1_uc011ahl.1_5'Flank|RANBP1_uc002zro.1_5'Flank|RANBP1_uc002zrp.2_5'Flank	p.E162K	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			3	699	-			162					D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	c.484G>A	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.345429	0.61073	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T	0.47177	0.85;0.85;0.85	5.34	4.28	0.50868	.	0.625213	0.16868	N	0.196222	T	0.44074	0.1276	L	0.49350	1.555	0.80722	D	1	P;P;B	0.50943	0.726;0.94;0.409	B;P;B	0.46585	0.205;0.521;0.118	T	0.14337	-1.0476	10	0.23891	T	0.37	-45.3399	9.3171	0.37941	0.0:0.7773:0.1455:0.0772	.	162;162;162	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	K	162	ENSP00000252136:E162K;ENSP00000385807:E162K;ENSP00000395738:E162K	ENSP00000252136:E162K	E	-	1	0	TRMT2A	18483676	0.985000	0.35326	0.745000	0.31077	0.219000	0.24729	2.767000	0.47637	2.523000	0.85059	0.491000	0.48974	GAG		0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3		NM_022727		46	51	0	0	0	0.002522	0	46	51		
ZNRF3	84133	broad.mit.edu	37	22	29445244	29445244	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:29445244C>G	ENST00000544604.2	+	8	1250	c.1075C>G	c.(1075-1077)Cag>Gag	p.Q359E	ZNRF3_ENST00000406323.3_Missense_Mutation_p.Q259E|ZNRF3_ENST00000402174.1_Missense_Mutation_p.Q259E|ZNRF3_ENST00000332811.4_Missense_Mutation_p.Q259E	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	359					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						ACGTGGTCGGCAGCAGAGGGT	0.612																																						uc003aeg.2		NaN																	0				ovary(1)	1						c.(775-777)CAG>GAG		zinc and ring finger 3							67.0	77.0	73.0					22																	29445244		2149	4233	6382	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29445244C>G	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.1075C>G	22.37:g.29445244C>G	ENSP00000443824:p.Gln359Glu					ZNRF3_uc003aeh.1_Missense_Mutation_p.Q259E	p.Q259E	NM_032173	NP_115549	Q9ULT6	ZNRF3_HUMAN			8	940	+			359			Cytoplasmic (Potential).		B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.775C>G	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536220	0.45176	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000462485;ENST00000402174;ENST00000406323	T;T;T;T	0.08720	3.19;3.06;3.06;3.06	5.58	5.58	0.84498	.	0.306327	0.36167	N	0.002756	T	0.09598	0.0236	L	0.43598	1.365	0.50171	D	0.999858	P	0.35328	0.495	B	0.30251	0.113	T	0.15065	-1.0450	10	0.33940	T	0.23	-10.6435	18.5506	0.91063	0.0:1.0:0.0:0.0	.	359	Q9ULT6	ZNRF3_HUMAN	E	359;259;66;259;259	ENSP00000443824:Q359E;ENSP00000328614:Q259E;ENSP00000384456:Q259E;ENSP00000384553:Q259E	ENSP00000328614:Q259E	Q	+	1	0	ZNRF3	27775244	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	4.989000	0.63870	2.625000	0.88918	0.655000	0.94253	CAG		0.612	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2		XM_290972		38	124	0	0	0	0.004878	0	38	124		
SLC35E4	339665	broad.mit.edu	37	22	31042720	31042720	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:31042720C>G	ENST00000343605.4	+	2	1554	c.755C>G	c.(754-756)tCt>tGt	p.S252C	SLC35E4_ENST00000406566.1_Intron|SLC35E4_ENST00000300385.8_Intron	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	252	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTGGCGACTCTCGCCTCTGG	0.667																																						uc003ais.1		NaN																	0					0						c.(754-756)TCT>TGT		solute carrier family 35, member E4							47.0	35.0	39.0					22																	31042720		2203	4300	6503	SO:0001583	missense	339665					integral to membrane		g.chr22:31042720C>G		CCDS13882.1	22q12.2	2013-05-22			ENSG00000100036	ENSG00000100036		"""Solute carriers"""	17058	protein-coding gene	gene with protein product							Standard	NM_001001479		Approved		uc003ais.1	Q6ICL7	OTTHUMG00000151110	ENST00000343605.4:c.755C>G	22.37:g.31042720C>G	ENSP00000339626:p.Ser252Cys					SLC35E4_uc003ait.2_Intron	p.S252C	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN			2	1400	+			252			Leu-rich.		Q567P0	Missense_Mutation	SNP	ENST00000343605.4	37	c.755C>G	CCDS13882.1	.	.	.	.	.	.	.	.	.	.	C	9.524	1.109082	0.20714	.	.	ENSG00000100036	ENST00000343605	T	0.69926	-0.44	5.02	-0.617	0.11579	Domain of unknown function DUF250 (1);	0.479292	0.24316	N	0.039582	T	0.53417	0.1795	L	0.48642	1.525	0.43622	D	0.996003	B	0.06786	0.001	B	0.10450	0.005	T	0.44003	-0.9356	10	0.38643	T	0.18	-10.037	8.8523	0.35208	0.2402:0.4334:0.3263:0.0	.	252	Q6ICL7	S35E4_HUMAN	C	252	ENSP00000339626:S252C	ENSP00000339626:S252C	S	+	2	0	SLC35E4	29372720	0.230000	0.23740	0.825000	0.32803	0.615000	0.37417	0.686000	0.25392	0.211000	0.20683	-0.305000	0.09177	TCT		0.667	SLC35E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321382.1		XM_290973		12	47	0	0	0	0.001368	0	12	47		
PLA2G6	8398	broad.mit.edu	37	22	38536057	38536057	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:38536057A>T	ENST00000332509.3	-	5	912	c.729T>A	c.(727-729)aaT>aaA	p.N243K	PLA2G6_ENST00000402064.1_Missense_Mutation_p.N243K|PLA2G6_ENST00000335539.3_Missense_Mutation_p.N243K	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	243					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TGCACCGAGCATTGCACAGCA	0.627																																						uc003auy.1		NaN																	0				ovary(1)	1						c.(727-729)AAT>AAA		phospholipase A2, group VI isoform a	Quinacrine(DB01103)						60.0	56.0	57.0					22																	38536057		2203	4300	6503	SO:0001583	missense	8398				cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane		g.chr22:38536057A>T	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.729T>A	22.37:g.38536057A>T	ENSP00000333142:p.Asn243Lys					PLA2G6_uc003auz.1_Missense_Mutation_p.N243K|PLA2G6_uc003ava.1_Missense_Mutation_p.N243K|PLA2G6_uc003avb.2_Missense_Mutation_p.N243K|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Intron	p.N243K	NM_003560	NP_003551	O60733	PA2G6_HUMAN			5	865	-	Melanoma(58;0.045)		243			ANK 3.		A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	37	c.729T>A	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.50|12.50	1.957167|1.957167	0.34565|0.34565	.|.	.|.	ENSG00000184381|ENSG00000184381	ENST00000452542|ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860	.|T;T;T	.|0.53206	.|0.63;0.63;0.63	5.69|5.69	-11.4|-11.4	0.00090|0.00090	.|Ankyrin repeat-containing domain (3);	.|0.237751	.|0.46758	.|D	.|0.000266	T|T	0.18759|0.18759	0.0450|0.0450	N|N	0.02916|0.02916	-0.46|-0.46	0.80722|0.80722	D|D	1|1	.|P;B	.|0.34587	.|0.458;0.146	.|B;B	.|0.35039	.|0.194;0.101	T|T	0.65565|0.65565	-0.6137|-0.6137	5|10	.|0.59425	.|D	.|0.04	-17.2206|-17.2206	16.0522|16.0522	0.80772|0.80772	0.3073:0.0868:0.6059:0.0|0.3073:0.0868:0.6059:0.0	.|.	.|243;243	.|O60733-2;O60733	.|.;PA2G6_HUMAN	K|K	74|243;104;243;243;171;243	.|ENSP00000333142:N243K;ENSP00000335149:N243K;ENSP00000386100:N243K	.|ENSP00000333142:N243K	M|N	-|-	2|3	0|2	PLA2G6|PLA2G6	36866003|36866003	0.000000|0.000000	0.05858|0.05858	0.017000|0.017000	0.16124|0.16124	0.359000|0.359000	0.29487|0.29487	-3.074000|-3.074000	0.00617|0.00617	-3.556000|-3.556000	0.00142|0.00142	-1.226000|-1.226000	0.01582|0.01582	ATG|AAT		0.627	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1		NM_001004426		11	46	0	0	0	0.000978	0	11	46		
TTLL12	23170	broad.mit.edu	37	22	43570554	43570554	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr22:43570554C>T	ENST00000216129.6	-	7	1048	c.985G>A	c.(985-987)Gag>Aag	p.E329K	TTLL12_ENST00000494035.1_5'Flank|TTLL12_ENST00000484118.1_5'UTR	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	329	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GCGTCCGCCTCACTCTGGGTG	0.657																																						uc003bdq.2		NaN																	0				central_nervous_system(1)	1						c.(985-987)GAG>AAG		tubulin tyrosine ligase-like family, member 12							90.0	92.0	91.0					22																	43570554		2203	4300	6503	SO:0001583	missense	23170				protein modification process		tubulin-tyrosine ligase activity	g.chr22:43570554C>T	D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.985G>A	22.37:g.43570554C>T	ENSP00000216129:p.Glu329Lys					TTLL12_uc003bdr.1_Missense_Mutation_p.E329K	p.E329K	NM_015140	NP_055955	Q14166	TTL12_HUMAN			7	1017	-		Ovarian(80;0.221)|Glioma(61;0.222)	329			TTL.		Q20WK5|Q9UGU3	Missense_Mutation	SNP	ENST00000216129.6	37	c.985G>A	CCDS14047.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816503	0.50527	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.53423	0.62	5.09	4.07	0.47477	.	0.053840	0.64402	D	0.000001	T	0.49762	0.1576	M	0.83953	2.67	0.53688	D	0.999979	B;B	0.27882	0.192;0.105	B;B	0.26202	0.067;0.037	T	0.51458	-0.8703	10	0.29301	T	0.29	-3.3893	12.9252	0.58257	0.0:0.9213:0.0:0.0787	.	329;329	B1AH89;Q14166	.;TTL12_HUMAN	K	329	ENSP00000216129:E329K	ENSP00000216129:E329K	E	-	1	0	TTLL12	41900498	0.994000	0.37717	0.948000	0.38648	0.673000	0.39480	3.167000	0.50793	2.350000	0.79820	0.655000	0.94253	GAG		0.657	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319611.1		NM_015140		32	105	0	0	0	0.003271	0	32	105		
CHL1	10752	broad.mit.edu	37	3	367669	367669	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:367669A>T	ENST00000256509.2	+	4	761	c.119A>T	c.(118-120)cAg>cTg	p.Q40L	CHL1_ENST00000397491.2_Missense_Mutation_p.Q40L	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ATCATAAAACAGTCAAAAGTC	0.338																																						uc003bou.2		NaN																	0				skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1)	12						c.(118-120)CAG>CTG		cell adhesion molecule with homology to L1CAM							86.0	86.0	86.0					3																	367669		2203	4300	6503	SO:0001583	missense	10752				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		g.chr3:367669A>T	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.119A>T	3.37:g.367669A>T	ENSP00000256509:p.Gln40Leu					CHL1_uc003bot.2_Missense_Mutation_p.Q40L|CHL1_uc003bow.1_Missense_Mutation_p.Q40L|CHL1_uc011asi.1_Missense_Mutation_p.Q40L	p.Q40L	NM_006614	NP_006605	O00533	CHL1_HUMAN		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)	4	390	+		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)	40			Ig-like C2-type 1.|Extracellular (Potential).		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000256509.2	37	c.119A>T	CCDS2556.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.975278	0.74360	.	.	ENSG00000134121	ENST00000256509;ENST00000397491;ENST00000427688;ENST00000421198;ENST00000435603;ENST00000449294	T;T;T;T;T;D	0.95821	1.08;1.08;0.35;-0.42;-0.02;-3.82	5.8	5.8	0.92144	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.97099	0.9052	M	0.82923	2.615	0.47905	D	0.999544	P;B;P	0.48834	0.916;0.302;0.876	P;B;P	0.55508	0.777;0.304;0.652	D	0.97603	1.0124	10	0.87932	D	0	.	14.7433	0.69472	1.0:0.0:0.0:0.0	.	40;40;40	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	L	40	ENSP00000256509:Q40L;ENSP00000380628:Q40L;ENSP00000403311:Q40L;ENSP00000413628:Q40L;ENSP00000397445:Q40L;ENSP00000390440:Q40L	ENSP00000256509:Q40L	Q	+	2	0	CHL1	342669	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.446000	0.80609	2.209000	0.71365	0.524000	0.50904	CAG		0.338	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207155.2		NM_006614		12	39	0	0	0	0.000978	0	12	39		
LRRN1	57633	broad.mit.edu	37	3	3886380	3886380	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:3886380A>T	ENST00000319331.3	+	2	816	c.55A>T	c.(55-57)Atg>Ttg	p.M19L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	19						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		GGGCCTACTAATGACTTCATT	0.458																																						uc003bpt.3		NaN																	0				central_nervous_system(1)	1						c.(55-57)ATG>TTG		leucine rich repeat neuronal 1 precursor							103.0	99.0	100.0					3																	3886380		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886380A>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.55A>T	3.37:g.3886380A>T	ENSP00000314901:p.Met19Leu					SUMF1_uc003bps.1_Intron	p.M19L	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	816	+			19					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.55A>T	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	A	7.099	0.573805	0.13623	.	.	ENSG00000175928	ENST00000319331	T	0.20069	2.1	5.76	-0.924	0.10462	.	0.521388	0.23137	N	0.051512	T	0.03959	0.0111	N	0.00608	-1.33	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40720	-0.9548	10	0.02654	T	1	.	7.2642	0.26219	0.4923:0.3805:0.1272:0.0	.	19	Q6UXK5	LRRN1_HUMAN	L	19	ENSP00000314901:M19L	ENSP00000314901:M19L	M	+	1	0	LRRN1	3861380	0.000000	0.05858	0.000000	0.03702	0.878000	0.50629	0.173000	0.16724	-0.384000	0.07845	-0.313000	0.08912	ATG		0.458	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2		NM_020873		31	63	0	0	0	0.008361	0	31	63		
LRRN1	57633	broad.mit.edu	37	3	3886395	3886395	+	Missense_Mutation	SNP	G	G	A	rs140162397	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:3886395G>A	ENST00000319331.3	+	2	831	c.70G>A	c.(70-72)Gag>Aag	p.E24K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	24						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCATTAACCGAGTCTTCCAT	0.473													G|||	2	0.000399361	0.0	0.0	5008	,	,		20379	0.0		0.001	False		,,,				2504	0.001					uc003bpt.3		NaN																	0				central_nervous_system(1)	1						c.(70-72)GAG>AAG		leucine rich repeat neuronal 1 precursor		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	112.0	106.0	108.0		70	4.9	0.1	3	dbSNP_134	108	0,8600		0,0,4300	no	missense	LRRN1	NM_020873.5	56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	24/717	3886395	1,13005	2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3886395G>A	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.70G>A	3.37:g.3886395G>A	ENSP00000314901:p.Glu24Lys					SUMF1_uc003bps.1_Intron	p.E24K	NM_020873	NP_065924	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	831	+			24					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.70G>A	CCDS33685.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.80	1.451527	0.26074	2.27E-4	0.0	ENSG00000175928	ENST00000319331	T	0.55588	0.51	5.76	4.87	0.63330	.	0.750405	0.13198	N	0.406228	T	0.39358	0.1075	L	0.27053	0.805	0.26536	N	0.974166	B	0.13145	0.007	B	0.09377	0.004	T	0.22382	-1.0218	10	0.28530	T	0.3	.	10.8854	0.46964	0.0697:0.1319:0.7984:0.0	.	24	Q6UXK5	LRRN1_HUMAN	K	24	ENSP00000314901:E24K	ENSP00000314901:E24K	E	+	1	0	LRRN1	3861395	.	.	0.129000	0.21949	0.986000	0.74619	.	.	1.391000	0.46566	0.655000	0.94253	GAG		0.473	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2		NM_020873		37	69	0	0	0	0.004289	0	37	69		
NR1D2	9975	broad.mit.edu	37	3	24018855	24018855	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:24018855G>T	ENST00000312521.4	+	8	2004	c.1685G>T	c.(1684-1686)cGa>cTa	p.R562L	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	562	Interaction with ZNHIT1.|Ligand-binding.				gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lipid homeostasis (GO:0055088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of inflammatory response (GO:0050727)|regulation of lipid metabolic process (GO:0019216)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						CCAGATCTTCGATCTTTAAAC	0.373																																						uc003ccs.2		NaN																	0				urinary_tract(1)|kidney(1)|skin(1)	3						c.(1684-1686)CGA>CTA		nuclear receptor subfamily 1, group D, member 2							75.0	79.0	78.0					3																	24018855		2203	4300	6503	SO:0001583	missense	9975				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr3:24018855G>T	BC045613	CCDS33718.1	3p24.1	2013-01-16			ENSG00000174738	ENSG00000174738		"""Nuclear hormone receptors"""	7963	protein-coding gene	gene with protein product		602304				7997240, 10198169	Standard	NM_005126		Approved	BD73, RVR, EAR-1r, HZF2, Hs.37288	uc003ccs.2	Q14995	OTTHUMG00000155659	ENST00000312521.4:c.1685G>T	3.37:g.24018855G>T	ENSP00000310006:p.Arg562Leu					NR1D2_uc010hfd.2_RNA|NR1D2_uc011awk.1_Missense_Mutation_p.R487L	p.R562L	NM_005126	NP_005117	Q14995	NR1D2_HUMAN			8	2004	+			562					B2R8Q3|O00402|Q86XD4	Missense_Mutation	SNP	ENST00000312521.4	37	c.1685G>T	CCDS33718.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.764900	0.90020	.	.	ENSG00000174738	ENST00000312521;ENST00000396676	D	0.98313	-4.86	5.92	5.92	0.95590	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.110729	0.64402	D	0.000005	D	0.99287	0.9751	H	0.94542	3.55	0.80722	D	1	D	0.69078	0.997	D	0.66847	0.947	D	0.98988	1.0807	10	0.87932	D	0	.	20.3605	0.98856	0.0:0.0:1.0:0.0	.	562	Q14995	NR1D2_HUMAN	L	562	ENSP00000310006:R562L	ENSP00000310006:R562L	R	+	2	0	NR1D2	23993859	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.953000	0.87836	2.817000	0.96982	0.558000	0.71614	CGA		0.373	NR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341017.3				47	108	1	0	9.55421e-19	0.00361	1.25722e-18	47	108		
SCN11A	11280	broad.mit.edu	37	3	38962614	38962614	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:38962614T>G	ENST00000302328.3	-	6	1043	c.845A>C	c.(844-846)aAa>aCa	p.K282T	SCN11A_ENST00000456224.3_Missense_Mutation_p.K282T|SCN11A_ENST00000444237.2_Missense_Mutation_p.K282T|SCN11A_ENST00000450244.1_Missense_Mutation_p.K282T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	282					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CGAGATGCATTTCAGGTTCAG	0.443																																						uc011ays.1		NaN																	0				skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	9						c.(844-846)AAA>ACA		sodium channel, voltage-gated, type XI, alpha	Cocaine(DB00907)						219.0	223.0	222.0					3																	38962614		2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38962614T>G	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.845A>C	3.37:g.38962614T>G	ENSP00000307599:p.Lys282Thr						p.K282T	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	6	1044	-			282			I.		A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.845A>C	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	T	15.55	2.866677	0.51588	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06	4.67	-1.7	0.08159	Ion transport (1);	0.579436	0.18550	N	0.137924	D	0.97049	0.9036	L	0.43923	1.385	0.26149	N	0.98017	D	0.54601	0.967	P	0.54759	0.76	D	0.93119	0.6523	10	0.87932	D	0	.	4.8813	0.13681	0.1399:0.327:0.0:0.5332	.	282	Q9UI33	SCNBA_HUMAN	T	282	ENSP00000307599:K282T;ENSP00000400945:K282T;ENSP00000416757:K282T;ENSP00000408028:K282T	ENSP00000307599:K282T	K	-	2	0	SCN11A	38937618	1.000000	0.71417	0.004000	0.12327	0.364000	0.29643	2.437000	0.44828	-0.167000	0.10871	0.477000	0.44152	AAA		0.443	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4		NM_014139		107	174	0	0	0	0.00361	0	107	174		
COL7A1	1294	broad.mit.edu	37	3	48618755	48618755	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:48618755C>T	ENST00000328333.8	-	51	4944	c.4837G>A	c.(4837-4839)Gga>Aga	p.G1613R	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1613R|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1613	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCCTTCTCTCCAGGAGGCCCT	0.652																																						uc003ctz.2		NaN																	0				ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(4837-4839)GGA>AGA		alpha 1 type VII collagen precursor							29.0	33.0	32.0					3																	48618755		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48618755C>T	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4837G>A	3.37:g.48618755C>T	ENSP00000332371:p.Gly1613Arg					MIR711_hsa-mir-711|MI0012488_5'Flank	p.G1613R	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	51	4838	-			1613			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.4837G>A	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	18.38	3.611458	0.66558	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.99637	-6.29;-6.29	5.41	5.41	0.78517	.	0.000000	0.45606	D	0.000344	D	0.99813	0.9918	H	0.98388	4.22	0.49798	D	0.999821	D	0.89917	1.0	D	0.97110	1.0	D	0.97032	0.9751	10	0.56958	D	0.05	.	16.3425	0.83092	0.0:1.0:0.0:0.0	.	1613	Q02388	CO7A1_HUMAN	R	1613	ENSP00000332371:G1613R;ENSP00000412569:G1613R	ENSP00000332371:G1613R	G	-	1	0	COL7A1	48593759	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.767000	0.68850	2.521000	0.84997	0.643000	0.83706	GGA		0.652	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1		NM_000094		16	31	0	0	0	0.00499	0	16	31		
SPATA12	353324	broad.mit.edu	37	3	57107939	57107939	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:57107939C>T	ENST00000334325.1	+	2	892	c.217C>T	c.(217-219)Cag>Tag	p.Q73*	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	73										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		GCTGACATTTCAGGGGGATGT	0.532																																						uc003dij.1		NaN																	0					0						c.(217-219)CAG>TAG		spermatogenesis associated 12							71.0	73.0	72.0					3																	57107939		2203	4300	6503	SO:0001587	stop_gained	353324							g.chr3:57107939C>T	AY221117	CCDS2879.1	3p21.2	2012-09-19			ENSG00000186451	ENSG00000186451			23221	protein-coding gene	gene with protein product		609869				22981541, 17251597	Standard	NM_181727		Approved		uc003dij.1	Q7Z6I5	OTTHUMG00000158862	ENST00000334325.1:c.217C>T	3.37:g.57107939C>T	ENSP00000335392:p.Gln73*					ARHGEF3_uc003dih.2_Intron	p.Q73*	NM_181727	NP_859078	Q7Z6I5	SPT12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)	2	892	+			73					A0AVA8|B2RMW1	Nonsense_Mutation	SNP	ENST00000334325.1	37	c.217C>T	CCDS2879.1	.	.	.	.	.	.	.	.	.	.	C	36	5.737993	0.96865	.	.	ENSG00000186451	ENST00000334325	.	.	.	2.1	1.22	0.21188	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.757	0.13090	0.0:0.8173:0.0:0.1827	.	.	.	.	X	73	.	ENSP00000335392:Q73X	Q	+	1	0	SPATA12	57082979	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.592000	0.23984	0.460000	0.27045	0.563000	0.77884	CAG		0.532	SPATA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352457.2		NM_181727		32	43	0	0	0	0.001786	0	32	43		
ABHD6	57406	broad.mit.edu	37	3	58255096	58255096	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:58255096G>A	ENST00000478253.1	+	5	826	c.325G>A	c.(325-327)Gag>Aag	p.E109K	ABHD6_ENST00000295962.4_Missense_Mutation_p.E109K			Q9BV23	ABHD6_HUMAN	abhydrolase domain containing 6	109					long term synaptic depression (GO:0060292)|negative regulation of cell migration (GO:0030336)|regulation of endocannabinoid signaling pathway (GO:2000124)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acylglycerol lipase activity (GO:0047372)			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)		GCCAGGACATGAGGGCACCAC	0.532																																						uc003djs.3		NaN																	0				ovary(2)	2						c.(325-327)GAG>AAG		abhydrolase domain containing 6							135.0	100.0	112.0					3																	58255096		2203	4300	6503	SO:0001583	missense	57406					integral to membrane	acylglycerol lipase activity	g.chr3:58255096G>A	AF225418	CCDS2887.1	3p21.2	2006-03-10			ENSG00000163686	ENSG00000163686		"""Abhydrolase domain containing"""	21398	protein-coding gene	gene with protein product							Standard	NM_020676		Approved		uc003djs.4	Q9BV23	OTTHUMG00000159150	ENST00000478253.1:c.325G>A	3.37:g.58255096G>A	ENSP00000420315:p.Glu109Lys					ABHD6_uc003djr.2_Missense_Mutation_p.E109K|ABHD6_uc003djt.3_Missense_Mutation_p.E109K	p.E109K	NM_020676	NP_065727	Q9BV23	ABHD6_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000225)|KIRC - Kidney renal clear cell carcinoma(284;0.0471)|Kidney(284;0.0589)|OV - Ovarian serous cystadenocarcinoma(275;0.209)	4	735	+			109			Cytoplasmic (Potential).		B2R7Y9|Q6ZMF7	Missense_Mutation	SNP	ENST00000478253.1	37	c.325G>A	CCDS2887.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.798067	0.90538	.	.	ENSG00000163686	ENST00000478253;ENST00000295962;ENST00000511761;ENST00000463756;ENST00000485900	T;T;T;T	0.76448	-1.02;-1.02;-0.25;-0.25	6.03	5.16	0.70880	Alpha/beta hydrolase fold-1 (1);	0.000000	0.85682	D	0.000000	D	0.85801	0.5781	L	0.61218	1.895	0.58432	D	0.999998	D;D	0.63880	0.992;0.993	D;P	0.64687	0.928;0.898	D	0.87471	0.2414	10	0.87932	D	0	-28.2316	16.4805	0.84157	0.0:0.0:0.8678:0.1322	.	109;109	Q9BV23;F5H7L1	ABHD6_HUMAN;.	K	109	ENSP00000420315:E109K;ENSP00000295962:E109K;ENSP00000420408:E109K;ENSP00000418934:E109K	ENSP00000295962:E109K	E	+	1	0	ABHD6	58230136	1.000000	0.71417	0.929000	0.37066	0.880000	0.50808	9.315000	0.96313	1.552000	0.49463	0.557000	0.71058	GAG		0.532	ABHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353511.1		NM_020676		13	31	0	0	0	0.007413	0	13	31		
C3orf67	200844	broad.mit.edu	37	3	58856020	58856020	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:58856020C>T	ENST00000482387.1	-	4	452	c.356G>A	c.(355-357)aGa>aAa	p.R119K	C3orf67_ENST00000295966.7_Missense_Mutation_p.R119K|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.R39K			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	119										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		ACTTGTTCCTCTGTTAATGAA	0.378																																						uc003dkt.1		NaN																	0					0						c.(355-357)AGA>AAA		hypothetical protein LOC200844							215.0	177.0	190.0					3																	58856020		2203	4300	6503	SO:0001583	missense	200844							g.chr3:58856020C>T	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.356G>A	3.37:g.58856020C>T	ENSP00000417122:p.Arg119Lys					C3orf67_uc003dks.1_5'Flank|uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.2_Missense_Mutation_p.R27K	p.R119K	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)	8	765	-		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)	119					B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	37	c.356G>A		.	.	.	.	.	.	.	.	.	.	C	11.38	1.620348	0.28801	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.44881	0.91;0.91;0.91	5.98	4.21	0.49690	.	0.191817	0.47852	D	0.000220	T	0.41903	0.1179	M	0.66939	2.045	0.80722	D	1	B;B	0.14438	0.01;0.001	B;B	0.16289	0.015;0.003	T	0.30851	-0.9964	10	0.52906	T	0.07	-8.418	11.6784	0.51442	0.0:0.8618:0.0:0.1382	.	39;119	C9J3M8;Q6ZVT6-2	.;.	K	119;119;39	ENSP00000295966:R119K;ENSP00000417122:R119K;ENSP00000417271:R39K	ENSP00000295966:R119K	R	-	2	0	C3orf67	58831060	0.989000	0.36119	0.970000	0.41538	0.137000	0.21094	0.271000	0.18626	0.873000	0.35799	-0.216000	0.12614	AGA		0.378	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1		NM_198463		20	25	0	0	0	0.008871	0	20	25		
OR5AC2	81050	broad.mit.edu	37	3	97806060	97806060	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:97806060T>G	ENST00000358642.2	+	1	44	c.44T>G	c.(43-45)gTt>gGt	p.V15G		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	15					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ACAGAGTTTGTTCTCACAGGA	0.403																																						uc011bgs.1		NaN																	0				skin(1)	1						c.(43-45)GTT>GGT		olfactory receptor, family 5, subfamily AC,							258.0	243.0	248.0					3																	97806060		2203	4300	6503	SO:0001583	missense	81050				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97806060T>G	AF179759	CCDS33796.1	3q11.2	2013-09-23			ENSG00000196578	ENSG00000196578		"""GPCR / Class A : Olfactory receptors"""	15431	protein-coding gene	gene with protein product							Standard	NM_054106		Approved	HSA1	uc011bgs.2	Q9NZP5	OTTHUMG00000160083	ENST00000358642.2:c.44T>G	3.37:g.97806060T>G	ENSP00000351466:p.Val15Gly						p.V15G	NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN			1	44	+			15			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000358642.2	37	c.44T>G	CCDS33796.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.164029	0.38217	.	.	ENSG00000196578	ENST00000358642	T	0.00614	6.21	4.96	3.79	0.43588	.	0.775111	0.10499	N	0.667514	T	0.01940	0.0061	M	0.90425	3.115	0.34387	D	0.693798	B	0.23854	0.092	B	0.26614	0.071	T	0.02371	-1.1169	10	0.87932	D	0	-21.5595	10.3895	0.44160	0.0:0.0:0.1647:0.8353	.	15	Q9NZP5	O5AC2_HUMAN	G	15	ENSP00000351466:V15G	ENSP00000351466:V15G	V	+	2	0	OR5AC2	99288750	0.032000	0.19561	0.993000	0.49108	0.929000	0.56500	2.364000	0.44187	0.758000	0.33059	-0.780000	0.03373	GTT		0.403	OR5AC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359116.1				62	149	0	0	0	0.00361	0	62	149		
TOMM70A	9868	broad.mit.edu	37	3	100103344	100103344	+	Silent	SNP	C	C	T	rs570670915		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:100103344C>T	ENST00000284320.5	-	4	1162	c.714G>A	c.(712-714)gaG>gaA	p.E238E		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	238					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						CTTTGGCTTTCTCTTTTCCAA	0.363																																						uc003dtw.2		NaN																	0				ovary(1)	1						c.(712-714)GAG>GAA		translocase of outer mitochondrial membrane 70							129.0	128.0	128.0					3																	100103344		2202	4300	6502	SO:0001819	synonymous_variant	9868				protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	g.chr3:100103344C>T	AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.714G>A	3.37:g.100103344C>T							p.E238E	NM_014820	NP_055635	O94826	TOM70_HUMAN			4	1146	-			238			Cytoplasmic (Potential).		D3DN48	Silent	SNP	ENST00000284320.5	37	c.714G>A	CCDS33807.1																																																																																				0.363	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353141.2				33	86	0	0	0	0.003271	0	33	86		
IMPG2	50939	broad.mit.edu	37	3	100961559	100961559	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:100961559C>T	ENST00000193391.7	-	14	3182	c.2995G>A	c.(2995-2997)Gat>Aat	p.D999N		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	999	SEA 2. {ECO:0000255|PROSITE- ProRule:PRU00188}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	GAGTATTTATCAATAGCCAAG	0.398																																						uc003duq.1		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)	3						c.(2995-2997)GAT>AAT		interphotoreceptor matrix proteoglycan 2							176.0	162.0	167.0					3																	100961559		2203	4300	6503	SO:0001583	missense	50939				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity	g.chr3:100961559C>T	AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2995G>A	3.37:g.100961559C>T	ENSP00000193391:p.Asp999Asn					IMPG2_uc011bhe.1_Missense_Mutation_p.D862N	p.D999N	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN			14	3198	-			999			Extracellular (Potential).|SEA 2.		A8MWT5|Q9UKD4|Q9UKK5	Missense_Mutation	SNP	ENST00000193391.7	37	c.2995G>A	CCDS2940.1	.	.	.	.	.	.	.	.	.	.	C	32	5.112039	0.94339	.	.	ENSG00000081148	ENST00000193391	T	0.45276	0.9	5.07	5.07	0.68467	SEA (2);	0.000000	0.64402	D	0.000002	T	0.65801	0.2726	M	0.71036	2.16	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69135	-0.5225	10	0.72032	D	0.01	-15.3059	18.8283	0.92127	0.0:1.0:0.0:0.0	.	999;999	F1T0J3;Q9BZV3	.;IMPG2_HUMAN	N	999	ENSP00000193391:D999N	ENSP00000193391:D999N	D	-	1	0	IMPG2	102444249	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.361000	0.79497	2.519000	0.84933	0.563000	0.77884	GAT		0.398	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3				32	69	0	0	0	0.002836	0	32	69		
ABHD10	55347	broad.mit.edu	37	3	111697910	111697910	+	Start_Codon_SNP	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:111697910T>G	ENST00000273359.3	+	1	29	c.2T>G	c.(1-3)aTg>aGg	p.M1R	ABHD10_ENST00000494817.1_Start_Codon_SNP_p.M1R|ABHD10_ENST00000534857.1_De_novo_Start_OutOfFrame	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	1					glucuronoside catabolic process (GO:0019391)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			large_intestine(2)|lung(7)|skin(1)	10						ACTACGAAGATGGCGGTTGCG	0.672																																						uc003dyk.3		NaN																	0					0						c.(1-3)ATG>AGG		abhydrolase domain containing 10 precursor							45.0	45.0	45.0					3																	111697910		2203	4300	6503	SO:0001582	initiator_codon_variant	55347					mitochondrion	serine-type peptidase activity	g.chr3:111697910T>G	AL713726	CCDS2963.1, CCDS63718.1	3q13.2	2012-03-26			ENSG00000144827	ENSG00000144827		"""Abhydrolase domain containing"""	25656	protein-coding gene	gene with protein product						22294686	Standard	NM_018394		Approved	FLJ11342	uc003dyk.5	Q9NUJ1	OTTHUMG00000159280	ENST00000273359.3:c.2T>G	3.37:g.111697910T>G	ENSP00000273359:p.Met1Arg					ABHD10_uc011bhq.1_5'UTR	p.M1R	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN			1	83	+			1					B7Z6A8|C9IZX5|D3DN63|Q8TCF9	Missense_Mutation	SNP	ENST00000273359.3	37	c.2T>G	CCDS2963.1	.	.	.	.	.	.	.	.	.	.	T	15.19	2.758858	0.49468	.	.	ENSG00000144827	ENST00000273359;ENST00000494817	T	0.46063	0.88	5.19	5.19	0.71726	.	0.157373	0.52532	D	0.000072	T	0.58836	0.2150	.	.	.	0.80722	D	1	D	0.61697	0.99	D	0.69142	0.962	T	0.57551	-0.7792	9	0.38643	T	0.18	-12.4689	11.6225	0.51126	0.0:0.0:0.0:1.0	.	1	Q9NUJ1	ABHDA_HUMAN	R	1	ENSP00000273359:M1R	ENSP00000273359:M1R	M	+	2	0	ABHD10	113180600	1.000000	0.71417	1.000000	0.80357	0.236000	0.25371	2.012000	0.40932	2.311000	0.77944	0.533000	0.62120	ATG		0.672	ABHD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354326.1		NM_018394	Missense_Mutation	12	49	0	0	0	0.003163	0	12	49		
PARP14	54625	broad.mit.edu	37	3	122437771	122437771	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:122437771C>T	ENST00000474629.2	+	14	5039	c.4773C>T	c.(4771-4773)caC>caT	p.H1591H	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1591	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAAAGGGCCACAGTTTATCTG	0.393																																						uc003efq.3		NaN																	0				ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(4771-4773)CAC>CAT		poly (ADP-ribose) polymerase family, member 14							54.0	54.0	54.0					3																	122437771		1949	4136	6085	SO:0001819	synonymous_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122437771C>T	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4773C>T	3.37:g.122437771C>T						PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Silent_p.H1308H|PARP14_uc003efs.1_Silent_p.H1308H	p.H1591H	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	14	4832	+			1591			WWE.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Silent	SNP	ENST00000474629.2	37	c.4773C>T	CCDS46894.1																																																																																				0.393	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2		NM_017554		8	38	0	0	0	0.00308	0	8	38		
MYLK	4638	broad.mit.edu	37	3	123367843	123367843	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:123367843A>T	ENST00000475616.1	-	23	4389	c.4390T>A	c.(4390-4392)Tac>Aac	p.Y1464N	MYLK_ENST00000360772.3_Missense_Mutation_p.Y1464N|MYLK_ENST00000360304.3_Missense_Mutation_p.Y1464N|MYLK_ENST00000354792.5_Missense_Mutation_p.Y264N|MYLK_ENST00000346322.5_Missense_Mutation_p.Y1395N|MYLK_ENST00000359169.1_Missense_Mutation_p.Y1464N			Q15746	MYLK_HUMAN	myosin light chain kinase	1464	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCAATGTCGTAGAAGTCAGAT	0.517																																						uc003ego.2		NaN																	0				ovary(6)|skin(2)|stomach(1)	9						c.(4390-4392)TAC>AAC		myosin light chain kinase isoform 1							227.0	204.0	212.0					3																	123367843		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123367843A>T	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.4390T>A	3.37:g.123367843A>T	ENSP00000418335:p.Tyr1464Asn					MYLK_uc010hrr.2_5'UTR|MYLK_uc011bjv.1_Missense_Mutation_p.Y264N|MYLK_uc011bjw.1_Missense_Mutation_p.Y1464N|MYLK_uc003egp.2_Missense_Mutation_p.Y1395N|MYLK_uc003egq.2_Missense_Mutation_p.Y1464N|MYLK_uc003egr.2_Missense_Mutation_p.Y1395N|MYLK_uc003egs.2_Missense_Mutation_p.Y1288N	p.Y1464N	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	26	4672	-		Lung NSC(201;0.0496)	1464			Protein kinase.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.4390T>A	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073655	0.76415	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000354792;ENST00000475616	T;T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29;0.29	4.82	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.82903	0.5138	H	0.96398	3.815	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;1.0	D;D;D;D;D	0.76575	0.979;0.937;0.958;0.968;0.988	D	0.88661	0.3189	9	0.87932	D	0	.	14.6535	0.68814	1.0:0.0:0.0:0.0	.	1464;1395;1464;1395;1464	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	N	1464;1464;1464;1395;264;1464	ENSP00000354004:Y1464N;ENSP00000353452:Y1464N;ENSP00000352088:Y1464N;ENSP00000320622:Y1395N;ENSP00000346846:Y264N;ENSP00000418335:Y1464N	ENSP00000320622:Y1395N	Y	-	1	0	MYLK	124850533	1.000000	0.71417	0.976000	0.42696	0.603000	0.37013	8.826000	0.92034	1.919000	0.55581	0.528000	0.53228	TAC		0.517	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1		NM_053025		28	114	0	0	0	0.007291	0	28	114		
PPP2R3A	5523	broad.mit.edu	37	3	135721464	135721464	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:135721464A>T	ENST00000264977.3	+	2	1741	c.1124A>T	c.(1123-1125)aAt>aTt	p.N375I	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	375					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						AACTCCACAAATTCCTTATAT	0.363																																						uc003eqv.1		NaN																	0				ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1)	7						c.(1123-1125)AAT>ATT		protein phosphatase 2, regulatory subunit B'',							58.0	60.0	60.0					3																	135721464		2203	4298	6501	SO:0001583	missense	5523				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	g.chr3:135721464A>T	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.1124A>T	3.37:g.135721464A>T	ENSP00000264977:p.Asn375Ile					PPP2R3A_uc011blz.1_Intron	p.N375I	NM_002718	NP_002709	Q06190	P2R3A_HUMAN			2	1689	+			375					A8KAE7|B4DNU1|B7ZAE3|Q06189|Q9NPQ5	Missense_Mutation	SNP	ENST00000264977.3	37	c.1124A>T	CCDS3087.1	.	.	.	.	.	.	.	.	.	.	A	3.859	-0.030228	0.07543	.	.	ENSG00000073711	ENST00000264977	T	0.06068	3.35	5.34	0.284	0.15701	.	0.636156	0.16551	N	0.209494	T	0.04363	0.0120	L	0.40543	1.245	0.09310	N	0.999999	B	0.13145	0.007	B	0.13407	0.009	T	0.39143	-0.9628	10	0.39692	T	0.17	.	0.4272	0.00465	0.4078:0.131:0.2077:0.2536	.	375	Q06190	P2R3A_HUMAN	I	375	ENSP00000264977:N375I	ENSP00000264977:N375I	N	+	2	0	PPP2R3A	137204154	0.161000	0.22892	0.300000	0.25030	0.794000	0.44872	0.648000	0.24828	0.027000	0.15297	-0.301000	0.09380	AAT		0.363	PPP2R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357232.1		NM_002718		25	67	0	0	0	0.00333	0	25	67		
NME9	347736	broad.mit.edu	37	3	138024902	138024902	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:138024902C>G	ENST00000333911.3	-	8	607	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	NME9_ENST00000341790.5_Missense_Mutation_p.E131Q|NME9_ENST00000317876.4_Missense_Mutation_p.E133Q|NME9_ENST00000383180.2_Missense_Mutation_p.E133Q|NME9_ENST00000536478.1_Missense_Mutation_p.E133Q|NME9_ENST00000484930.1_Missense_Mutation_p.E131Q			Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	194	NDK.				cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										ATGGTTCTCTCTTCATTTGTT	0.373																																						uc003esg.2		NaN																	0				breast(3)|ovary(1)|pancreas(1)	5						c.(580-582)GAG>CAG		thioredoxin domain containing 6							140.0	135.0	137.0					3																	138024902		2203	4300	6503	SO:0001583	missense	347736				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr3:138024902C>G	AF196568	CCDS3099.1	3q22.3	2012-05-18	2012-05-18	2011-08-24	ENSG00000181322	ENSG00000181322			21343	protein-coding gene	gene with protein product			"""thioredoxin domain containing 6"", ""NME gene family member 9"", ""NME family member 9"""	TXNDC6		12569107, 19852809	Standard	NM_178130		Approved	TXL-2, NM23-H9	uc003ese.1	Q86XW9	OTTHUMG00000159823	ENST00000333911.3:c.580G>C	3.37:g.138024902C>G	ENSP00000335444:p.Glu194Gln					TXNDC6_uc003esd.1_RNA|TXNDC6_uc010huf.1_Missense_Mutation_p.E109Q|TXNDC6_uc003ese.1_Missense_Mutation_p.E133Q	p.E194Q	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN			8	608	-			194			NDK.		Q7Z4A8|Q8N1V7	Missense_Mutation	SNP	ENST00000333911.3	37	c.580G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.554686|4.554686	0.86231|0.86231	.|.	.|.	ENSG00000181322|ENSG00000181322	ENST00000383180;ENST00000317876;ENST00000484930;ENST00000341790;ENST00000536478;ENST00000333911;ENST00000475751|ENST00000474690	T;T;T;T;T;T;T|.	0.54866|.	0.55;0.55;0.55;0.55;0.55;0.55;0.55|.	5.16|5.16	5.16|5.16	0.70880|0.70880	.|.	0.099844|.	0.64402|.	D|.	0.000003|.	T|T	0.51805|0.51805	0.1696|0.1696	N|N	0.19112|0.19112	0.55|0.55	0.48395|0.48395	D|D	0.999646|0.999646	D;D;P|.	0.69078|.	0.991;0.997;0.858|.	D;D;P|.	0.65323|.	0.917;0.934;0.628|.	T|T	0.46965|0.46965	-0.9153|-0.9153	10|5	0.54805|.	T|.	0.06|.	-23.63|-23.63	16.5065|16.5065	0.84273|0.84273	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	131;194;133|.	Q86XW9-3;Q86XW9;Q86XW9-2|.	.;TXND6_HUMAN;.|.	Q|T	133;133;131;131;133;194;194|124	ENSP00000372667:E133Q;ENSP00000321929:E133Q;ENSP00000419882:E131Q;ENSP00000341084:E131Q;ENSP00000440143:E133Q;ENSP00000335444:E194Q;ENSP00000419147:E194Q|.	ENSP00000321929:E133Q|.	E|R	-|-	1|2	0|0	TXNDC6|TXNDC6	139507592|139507592	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	5.640000|5.640000	0.67875|0.67875	2.532000|2.532000	0.85374|0.85374	0.591000|0.591000	0.81541|0.81541	GAG|AGA		0.373	NME9-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357583.1		NM_178130		40	129	0	0	0	0.002522	0	40	129		
TRIM42	287015	broad.mit.edu	37	3	140397361	140397361	+	Missense_Mutation	SNP	G	G	A	rs144112519		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:140397361G>A	ENST00000286349.3	+	1	481	c.290G>A	c.(289-291)cGc>cAc	p.R97H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	97						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCTGCTGCCGCAATACCATC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		18343	0.001		0.0	False		,,,				2504	0.0					uc003eto.1		NaN																	0				lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1)	7						c.(289-291)CGC>CAC		tripartite motif-containing 42		G	HIS/ARG	1,4365		0,1,2182	43.0	40.0	41.0		290	4.3	1.0	3	dbSNP_134	41	0,8484		0,0,4242	yes	missense	TRIM42	NM_152616.4	29	0,1,6424	AA,AG,GG		0.0,0.0229,0.0078	probably-damaging	97/724	140397361	1,12849	2183	4242	6425	SO:0001583	missense	287015					intracellular	zinc ion binding	g.chr3:140397361G>A	AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.290G>A	3.37:g.140397361G>A	ENSP00000286349:p.Arg97His						p.R97H	NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN			1	481	+			97					A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	ENST00000286349.3	37	c.290G>A	CCDS3113.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873213	0.33069	2.29E-4	0.0	ENSG00000155890	ENST00000286349	T	0.18502	2.21	5.15	4.26	0.50523	.	0.000000	0.48767	D	0.000162	T	0.14184	0.0343	N	0.14661	0.345	0.32835	D	0.504548	D	0.60575	0.988	P	0.49708	0.62	T	0.04781	-1.0927	10	0.62326	D	0.03	-23.7362	10.2319	0.43260	0.097:0.0:0.903:0.0	.	97	Q8IWZ5	TRI42_HUMAN	H	97	ENSP00000286349:R97H	ENSP00000286349:R97H	R	+	2	0	TRIM42	141880051	0.998000	0.40836	1.000000	0.80357	0.514000	0.34195	2.973000	0.49264	2.563000	0.86464	0.655000	0.94253	CGC		0.542	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359531.2		NM_152616		22	41	0	0	0	0.00278	0	22	41		
XRN1	54464	broad.mit.edu	37	3	142140317	142140317	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:142140317C>T	ENST00000264951.4	-	9	1153		c.e9+1		RNU1-100P_ENST00000365255.1_RNA|XRN1_ENST00000392981.2_Splice_Site|XRN1_ENST00000463916.1_Splice_Site|XRN1_ENST00000544157.1_Splice_Site	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TAGTTACTTACATCTGATAGT	0.318																																						uc003eus.2		NaN																	0				ovary(3)	3						c.e9+1		5'-3' exoribonuclease 1 isoform a							55.0	55.0	55.0					3																	142140317		2202	4295	6497	SO:0001630	splice_region_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142140317C>T	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.1035+1G>A	3.37:g.142140317C>T						XRN1_uc003eut.2_Splice_Site_p.D345_splice|XRN1_uc003euu.2_Splice_Site_p.D345_splice|XRN1_uc003euv.1_Splice_Site_p.D206_splice|XRN1_uc003euw.2_Splice_Site_p.D345_splice|XRN1_uc011bnh.1_Splice_Site_p.D135_splice	p.D345_splice	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN			9	1102	-								Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Splice_Site	SNP	ENST00000264951.4	37	c.1035_splice	CCDS3123.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953517	0.73902	.	.	ENSG00000114127	ENST00000264951;ENST00000392981;ENST00000463916;ENST00000544157	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5862	0.68326	0.1468:0.8532:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	XRN1	143623007	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.498000	0.66931	2.621000	0.88768	0.460000	0.39030	.		0.318	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2		NM_019001	Intron	6	40	0	0	0	0.001984	0	6	40		
PLOD2	5352	broad.mit.edu	37	3	145796998	145796998	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:145796998C>T	ENST00000360060.3	-	13	1582	c.1405G>A	c.(1405-1407)Gga>Aga	p.G469R	RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.G414R|PLOD2_ENST00000461497.1_Missense_Mutation_p.G129R|PLOD2_ENST00000282903.5_Missense_Mutation_p.G469R	NM_000935.2	NP_000926.2	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	469					cellular protein modification process (GO:0006464)|extracellular matrix organization (GO:0030198)|response to hypoxia (GO:0001666)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	AGTGTCTTTCCTTTAATTAAG	0.348																																						uc003evs.1		NaN																	0				ovary(1)|skin(1)	2						c.(1405-1407)GGA>AGA		procollagen-lysine, 2-oxoglutarate 5-dioxygenase	Vitamin C(DB00126)						114.0	102.0	106.0					3																	145796998		2203	4299	6502	SO:0001583	missense	5352				protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding	g.chr3:145796998C>T	U84573	CCDS3131.1, CCDS3132.1	3q24	2011-08-24	2005-01-04		ENSG00000152952	ENSG00000152952			9082	protein-coding gene	gene with protein product	"""lysyl hydroxlase 2"""	601865	"""procollagen-lysine, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase) 2"""			9054364	Standard	XM_005247535		Approved	LH2	uc003evr.1	O00469	OTTHUMG00000159417	ENST00000360060.3:c.1405G>A	3.37:g.145796998C>T	ENSP00000353170:p.Gly469Arg					PLOD2_uc003evq.1_Missense_Mutation_p.G129R|PLOD2_uc011bnm.1_Missense_Mutation_p.G414R|PLOD2_uc003evr.1_Missense_Mutation_p.G469R	p.G469R	NM_000935	NP_000926	O00469	PLOD2_HUMAN			13	1911	-			469					B3KWS3|Q59ED2|Q8N170	Missense_Mutation	SNP	ENST00000360060.3	37	c.1405G>A	CCDS3131.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.349870	0.82132	.	.	ENSG00000152952	ENST00000461497;ENST00000282903;ENST00000360060;ENST00000494950	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.19	4.32	0.51571	.	0.000000	0.85682	D	0.000000	D	0.86008	0.5830	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.998	D;D;D;D	0.97110	0.999;1.0;0.99;0.963	D	0.86798	0.1990	10	0.56958	D	0.05	-30.1434	13.815	0.63285	0.0:0.926:0.0:0.074	.	414;469;469;129	E7ETU9;O00469;O00469-2;B3KWS3	.;PLOD2_HUMAN;.;.	R	129;469;469;414	ENSP00000419354:G129R;ENSP00000282903:G469R;ENSP00000353170:G469R;ENSP00000420094:G414R	ENSP00000282903:G469R	G	-	1	0	PLOD2	147279688	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.671000	0.83941	1.320000	0.45209	0.655000	0.94253	GGA		0.348	PLOD2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355185.1		NM_000935		29	53	0	0	0	0.005443	0	29	53		
HPS3	84343	broad.mit.edu	37	3	148863304	148863304	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:148863304C>T	ENST00000296051.2	+	5	1274	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	HPS3_ENST00000460120.1_Silent_p.L213L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	378					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGGCAGTACTCACGCCACAAT	0.413									Hermansky-Pudlak syndrome																													uc003ewu.1		NaN																	0				ovary(5)|large_intestine(1)	6						c.(1132-1134)CTC>CTT		Hermansky-Pudlak syndrome 3 protein							161.0	158.0	159.0					3																	148863304		2203	4300	6503	SO:0001819	synonymous_variant	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148863304C>T	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1134C>T	3.37:g.148863304C>T						HPS3_uc003ewt.1_Silent_p.L378L|HPS3_uc011bnq.1_Silent_p.L213L	p.L378L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	1274	+			378					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	ENST00000296051.2	37	c.1134C>T	CCDS3140.1																																																																																				0.413	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1		NM_032383		50	107	0	0	0	0.00361	0	50	107		
MED12L	116931	broad.mit.edu	37	3	151102873	151102873	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:151102873C>T	ENST00000474524.1	+	34	4915	c.4877C>T	c.(4876-4878)cCt>cTt	p.P1626L	MED12L_ENST00000273432.4_Missense_Mutation_p.P1486L|P2RY12_ENST00000302632.3_5'Flank	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1626						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGTTACTACCTTTGCCGAAA	0.388																																						uc003eyp.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(4876-4878)CCT>CTT		mediator of RNA polymerase II transcription,							137.0	135.0	136.0					3																	151102873		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151102873C>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.4877C>T	3.37:g.151102873C>T	ENSP00000417235:p.Pro1626Leu					MED12L_uc011bnz.1_Missense_Mutation_p.P1486L|P2RY12_uc011boa.1_5'Flank|P2RY12_uc003eyx.1_5'Flank|MED12L_uc003eyy.1_Missense_Mutation_p.P789L	p.P1626L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		34	4915	+			1626					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.4877C>T	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097097	0.94197	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.78246	-1.1;-1.16	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.86948	0.6056	L	0.58428	1.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.998;0.996	D	0.87513	0.2441	10	0.87932	D	0	-19.8362	19.3047	0.94157	0.0:1.0:0.0:0.0	.	1486;1625;1626	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	L	1626;1486	ENSP00000417235:P1626L;ENSP00000273432:P1486L	ENSP00000273432:P1486L	P	+	2	0	MED12L	152585563	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.792000	0.85828	2.652000	0.90054	0.655000	0.94253	CCT		0.388	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2		NM_053002		52	161	0	0	0	0.00361	0	52	161		
ARHGEF26	26084	broad.mit.edu	37	3	153847391	153847391	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:153847391G>A	ENST00000356448.4	+	4	1436	c.1152G>A	c.(1150-1152)aaG>aaA	p.K384K	ARHGEF26_ENST00000465093.1_Silent_p.K384K|ARHGEF26_ENST00000465817.1_Silent_p.K384K	NM_001251962.1	NP_001238891.1	Q96DR7	ARHGQ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 26	384					endothelial cell morphogenesis (GO:0001886)|ruffle assembly (GO:0097178)	cell projection (GO:0042995)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	23						AAAACTACAAGGAAAAGGCCC	0.363																																					GBM(163;191 2003 24758 29593 48540)|Ovarian(152;631 1885 20165 22910 51013)	uc011bog.1		NaN																	0				large_intestine(1)	1						c.(1150-1152)AAG>AAA		Src homology 3 domain-containing guanine							87.0	81.0	83.0					3																	153847391		1863	4106	5969	SO:0001819	synonymous_variant	26084				regulation of Rho protein signal transduction	intracellular|ruffle	Rho guanyl-nucleotide exchange factor activity	g.chr3:153847391G>A	BC016628	CCDS46938.1, CCDS58858.1	3q25.2	2013-01-10			ENSG00000114790	ENSG00000114790		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	24490	protein-coding gene	gene with protein product	"""Src homology 3 domain-containing guanine nucleotide exchange factor"""					15133129, 12697679	Standard	NM_015595		Approved	DKFZP434D146, SGEF	uc021xgc.1	Q96DR7	OTTHUMG00000159098	ENST00000356448.4:c.1152G>A	3.37:g.153847391G>A						SGEF_uc011boh.1_Silent_p.K384K	p.K384K	NM_015595	NP_056410	Q96DR7	ARHGQ_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	1363	+			384					B3KVP8|E9PBD0|Q68CL1|Q6AZ96|Q6Q8Q8|Q96AW8|Q96DR6|Q9H9D7|Q9H9R2|Q9UFW5	Silent	SNP	ENST00000356448.4	37	c.1152G>A	CCDS46938.1																																																																																				0.363	ARHGEF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353287.3		NM_015595		7	16	0	0	0	0.00308	0	7	16		
SLITRK3	22865	broad.mit.edu	37	3	164907052	164907052	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:164907052C>G	ENST00000475390.1	-	2	2010	c.1567G>C	c.(1567-1569)Gcc>Ccc	p.A523P	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A523P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	523					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCAGCAAAGGCGTCTGTTGGC	0.522										HNSCC(40;0.11)																												uc003fej.3		NaN																	0				ovary(6)|skin(3)|pancreas(1)	10						c.(1567-1569)GCC>CCC		slit and trk like 3 protein precursor							58.0	62.0	60.0					3																	164907052		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907052C>G	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1567G>C	3.37:g.164907052C>G	ENSP00000420091:p.Ala523Pro	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.A523P	p.A523P	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	2011	-			523			LRR 11.|Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1567G>C	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.433217	0.43224	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.56776	0.44;0.44	5.28	5.28	0.74379	.	0.000000	0.37623	N	0.002017	T	0.77512	0.4141	M	0.93150	3.385	0.50171	D	0.999855	D	0.71674	0.998	D	0.69824	0.966	T	0.81998	-0.0675	10	0.72032	D	0.01	-17.0083	12.4319	0.55578	0.0:0.9226:0.0:0.0774	.	523	O94933	SLIK3_HUMAN	P	523	ENSP00000420091:A523P;ENSP00000241274:A523P	ENSP00000241274:A523P	A	-	1	0	SLITRK3	166389746	0.995000	0.38212	0.972000	0.41901	0.351000	0.29236	3.190000	0.50973	2.906000	0.99361	0.655000	0.94253	GCC		0.522	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1		NM_014926		19	52	0	0	0	0.007413	0	19	52		
CCDC39	339829	broad.mit.edu	37	3	180372711	180372711	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:180372711C>G	ENST00000442201.2	-	7	888	c.769G>C	c.(769-771)Gaa>Caa	p.E257Q	CCDC39_ENST00000273654.4_Missense_Mutation_p.E341Q	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	257					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TTTTCTTTTTCTCTCGTTTCC	0.294																																						uc010hxe.2		NaN																	0				ovary(4)	4						c.(769-771)GAA>CAA		coiled-coil domain containing 39							136.0	117.0	122.0					3																	180372711		1793	4063	5856	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180372711C>G	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.769G>C	3.37:g.180372711C>G	ENSP00000405708:p.Glu257Gln					CCDC39_uc003fkn.2_RNA	p.E257Q	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		7	884	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		257			Potential.		B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.769G>C	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.251205	0.39797	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	T;T	0.22539	1.95;1.95	5.5	5.5	0.81552	.	0.054132	0.64402	D	0.000001	T	0.35364	0.0929	L	0.58669	1.825	0.37457	D	0.915045	D	0.61080	0.989	P	0.58660	0.843	T	0.07809	-1.0753	10	0.24483	T	0.36	-26.6651	13.4927	0.61405	0.0:0.9186:0.0:0.0814	.	257	Q9UFE4	CCD39_HUMAN	Q	341;257	ENSP00000273654:E341Q;ENSP00000405708:E257Q	ENSP00000273654:E341Q	E	-	1	0	CCDC39	181855405	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	2.241000	0.43097	2.737000	0.93849	0.563000	0.77884	GAA		0.294	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3		XM_291028		8	30	0	0	0	0.00308	0	8	30		
CCDC39	339829	broad.mit.edu	37	3	180397161	180397161	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:180397161C>A	ENST00000442201.2	-	1	127	c.8G>T	c.(7-9)aGc>aTc	p.S3I	CCDC39-AS1_ENST00000495357.1_RNA|CCDC39_ENST00000273654.4_Missense_Mutation_p.S87I	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	3					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CAGGAATTCGCTACTCATGAC	0.552																																						uc010hxe.2		NaN																	0				ovary(4)	4						c.(7-9)AGC>ATC		coiled-coil domain containing 39							141.0	138.0	139.0					3																	180397161		1995	4181	6176	SO:0001583	missense	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180397161C>A	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.8G>T	3.37:g.180397161C>A	ENSP00000405708:p.Ser3Ile					CCDC39_uc003fkn.2_RNA	p.S3I	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		1	123	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		3					B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	37	c.8G>T	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.845609	0.32606	.	.	ENSG00000145075	ENST00000273654;ENST00000442201	.	.	.	5.59	3.79	0.43588	.	0.656003	0.16479	N	0.212608	T	0.47581	0.1453	M	0.64997	1.995	0.27057	N	0.96366	D	0.55605	0.972	P	0.51516	0.672	T	0.35351	-0.9792	9	0.38643	T	0.18	-5.43	8.7351	0.34523	0.0:0.8214:0.0:0.1786	.	3	Q9UFE4	CCD39_HUMAN	I	87;3	.	ENSP00000273654:S87I	S	-	2	0	CCDC39	181879855	0.951000	0.32395	0.956000	0.39512	0.128000	0.20619	0.843000	0.27640	1.364000	0.46038	0.655000	0.94253	AGC		0.552	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3		XM_291028		73	194	1	0	2.10328e-26	0.00361	2.81522e-26	73	194		
CCDC50	152137	broad.mit.edu	37	3	191098675	191098675	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:191098675G>A	ENST00000392455.3	+	8	1266	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	CCDC50_ENST00000392456.3_Missense_Mutation_p.R399Q	NM_174908.3	NP_777568.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	223	Lys-rich.					cytoplasm (GO:0005737)	ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		GCCAAGGAGCGGGAGAAATCA	0.368																																						uc003fsw.2		NaN																	0					0						c.(667-669)CGG>CAG		Ymer protein short isoform							72.0	87.0	82.0					3																	191098675		2203	4299	6502	SO:0001583	missense	152137					cytoplasm	protein binding	g.chr3:191098675G>A	AJ416916	CCDS33912.1, CCDS33913.1	3q28	2010-12-24		2005-12-23	ENSG00000152492	ENSG00000152492			18111	protein-coding gene	gene with protein product		611051	"""deafness, autosomal dominant 44"""	C3orf6, DFNA44		16803894, 17503326	Standard	NM_178335		Approved	Ymer	uc003fsv.3	Q8IVM0	OTTHUMG00000156177	ENST00000392455.3:c.668G>A	3.37:g.191098675G>A	ENSP00000376249:p.Arg223Gln					CCDC50_uc003fsv.2_Missense_Mutation_p.R399Q	p.R223Q	NM_174908	NP_777568	Q8IVM0	CCD50_HUMAN	LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)	8	1258	+	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		223			Lys-rich.		Q86VH7	Missense_Mutation	SNP	ENST00000392455.3	37	c.668G>A	CCDS33913.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.880836	0.72294	.	.	ENSG00000152492	ENST00000392455;ENST00000392456	T;T	0.39406	1.27;1.08	5.46	5.46	0.80206	.	0.127171	0.46758	D	0.000271	T	0.61022	0.2314	M	0.72118	2.19	0.30342	N	0.785576	D;D	0.89917	0.991;1.0	P;P	0.62649	0.482;0.905	T	0.64179	-0.6468	10	0.59425	D	0.04	.	14.8125	0.70006	0.0:0.0:1.0:0.0	.	223;399	Q8IVM0;Q8IVM0-2	CCD50_HUMAN;.	Q	223;399	ENSP00000376249:R223Q;ENSP00000376250:R399Q	ENSP00000376249:R223Q	R	+	2	0	CCDC50	192581369	0.998000	0.40836	0.960000	0.40013	0.571000	0.35966	3.302000	0.51849	2.548000	0.85928	0.655000	0.94253	CGG		0.368	CCDC50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343315.1		NM_174908		12	20	0	0	0	0.001855	0	12	20		
FYTTD1	84248	broad.mit.edu	37	3	197476889	197476889	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:197476889C>T	ENST00000241502.4	+	1	269	c.47C>T	c.(46-48)tCg>tTg	p.S16L	KIAA0226_ENST00000273582.5_5'Flank|FYTTD1_ENST00000428395.2_Intron|FYTTD1_ENST00000415708.2_Intron|FYTTD1_ENST00000424384.2_5'Flank|KIAA0226_ENST00000467303.1_5'Flank	NM_032288.6	NP_115664.2	Q96QD9	UIF_HUMAN	forty-two-three domain containing 1	16					mRNA export from nucleus (GO:0006406)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		GCGACTTCTTCGCCGCCGCCG	0.652																																						uc003fyi.2		NaN																	0					0						c.(46-48)TCG>TTG		forty-two-three domain containing 1 isoform 1							15.0	19.0	18.0					3																	197476889		2202	4296	6498	SO:0001583	missense	84248				mRNA export from nucleus	nuclear speck	mRNA binding|protein binding	g.chr3:197476889C>T	AJ344094	CCDS3329.1, CCDS43196.1, CCDS43196.2	3q29	2011-03-03			ENSG00000122068	ENSG00000122068			25407	protein-coding gene	gene with protein product	"""UAP56-interacting factor"""					19836239	Standard	NM_001011537		Approved	DKFZp761B1514, UIF	uc003fyi.2	Q96QD9	OTTHUMG00000155453	ENST00000241502.4:c.47C>T	3.37:g.197476889C>T	ENSP00000241502:p.Ser16Leu					KIAA0226_uc003fyd.3_5'Flank|KIAA0226_uc003fyf.2_5'Flank|FYTTD1_uc011bui.1_Intron|FYTTD1_uc011buj.1_RNA|FYTTD1_uc011buk.1_5'Flank	p.S16L	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)	1	266	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	16					A8MY74|B2RCB2|B7Z3R4|B7Z7V1|B7Z8I0|B7ZAJ3|C9J7P6|C9JNG6|C9JTH3|C9JY50|Q96SL9|Q9BQI8	Missense_Mutation	SNP	ENST00000241502.4	37	c.47C>T	CCDS3329.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644377	0.67244	.	.	ENSG00000122068	ENST00000241502	T	0.42513	0.97	4.51	4.51	0.55191	.	1.194020	0.05952	N	0.638986	T	0.29556	0.0737	N	0.08118	0	0.80722	D	1	B	0.20988	0.05	B	0.17433	0.018	T	0.03433	-1.1037	10	0.66056	D	0.02	0.5892	12.6704	0.56864	0.0:1.0:0.0:0.0	.	16	Q96QD9	UIF_HUMAN	L	16	ENSP00000241502:S16L	ENSP00000241502:S16L	S	+	2	0	FYTTD1	198961286	0.109000	0.22037	0.951000	0.38953	0.868000	0.49771	1.718000	0.38001	2.349000	0.79799	0.460000	0.39030	TCG		0.652	FYTTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340185.3		NM_032288		21	19	0	0	0	0.004656	0	21	19		
MFSD7	84179	broad.mit.edu	37	4	682809	682809	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:682809G>A	ENST00000404286.2	-	1	123	c.108C>T	c.(106-108)atC>atT	p.I36I	MFSD7_ENST00000515118.1_Silent_p.I36I|MFSD7_ENST00000513740.1_5'UTR|MFSD7_ENST00000322224.4_Silent_p.I36I|MFSD7_ENST00000347950.5_Silent_p.I36I|MFSD7_ENST00000503156.1_5'Flank	NM_032219.2	NP_115595.2	Q6UXD7	MFSD7_HUMAN	major facilitator superfamily domain containing 7	36					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						TGAGCAGGCTGATCGCGAGCA	0.721																																						uc003gay.2		NaN																	0					0						c.(106-108)ATC>ATT		major facilitator superfamily domain containing							15.0	17.0	16.0					4																	682809		2188	4291	6479	SO:0001819	synonymous_variant	84179				transmembrane transport	integral to membrane		g.chr4:682809G>A	AK025922	CCDS3338.1, CCDS75086.1	4p16.3	2013-05-22			ENSG00000169026	ENSG00000169026		"""Solute carriers"""	26177	protein-coding gene	gene with protein product						12975309	Standard	XM_005272295		Approved	FLJ22269, LP2561	uc003gax.3	Q6UXD7	OTTHUMG00000119001	ENST00000404286.2:c.108C>T	4.37:g.682809G>A						MFSD7_uc003gax.2_Silent_p.I36I|MFSD7_uc003gaz.2_Silent_p.I36I|MFSD7_uc003gba.2_Silent_p.I36I|MFSD7_uc003gbb.1_5'Flank	p.I36I	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN			1	165	-			36			Helical; (Potential).		A8K7J5|Q6XYD4|Q8N6H1|Q9H6H6	Silent	SNP	ENST00000404286.2	37	c.108C>T																																																																																					0.721	MFSD7-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000358585.1		NM_032219		13	19	0	0	0	0.00245	0	13	19		
WHSC1	7468	broad.mit.edu	37	4	1957573	1957573	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:1957573A>G	ENST00000382895.3	+	16	3103	c.2672A>G	c.(2671-2673)tAc>tGc	p.Y891C	WHSC1_ENST00000508803.1_Missense_Mutation_p.Y891C|WHSC1_ENST00000382892.2_Missense_Mutation_p.Y891C|WHSC1_ENST00000382891.5_Missense_Mutation_p.Y891C|WHSC1_ENST00000382888.3_Missense_Mutation_p.Y239C|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	891	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		CTTGGGAACTACAGGTGTGAG	0.433			T	IGH@	MM																																	uc003gdz.3		NaN		Dom	yes		4	4p16.3	7468	T	Wolf-Hirschhorn syndrome candidate 1(MMSET)			L	IGH@		MM		0				ovary(3)|lung(3)|skin(2)|pancreas(1)	9						c.(2671-2673)TAC>TGC		Wolf-Hirschhorn syndrome candidate 1 protein							58.0	55.0	56.0					4																	1957573		2203	4300	6503	SO:0001583	missense	7468				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr4:1957573A>G	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2672A>G	4.37:g.1957573A>G	ENSP00000372351:p.Tyr891Cys					WHSC1_uc003geb.3_Missense_Mutation_p.Y891C|WHSC1_uc003gec.3_Missense_Mutation_p.Y891C|WHSC1_uc003ged.3_Missense_Mutation_p.Y891C|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.Y110C|WHSC1_uc011bvh.1_5'UTR|WHSC1_uc010icf.2_Missense_Mutation_p.Y239C	p.Y891C	NM_001042424	NP_001035889	O96028	NSD2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)	14	2848	+		all_epithelial(65;1.34e-05)	891			PWWP 2.		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	c.2672A>G	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.489707	0.84962	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.97	5.97	0.96955	PWWP (3);Zinc finger, FYVE/PHD-type (1);	0.000000	0.52532	D	0.000067	T	0.68586	0.3017	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.995;0.999	T	0.73506	-0.3961	10	0.87932	D	0	.	16.4608	0.84044	1.0:0.0:0.0:0.0	.	239;891	A2A2T2;O96028	.;NSD2_HUMAN	C	891;891;891;891;239	ENSP00000423972:Y891C;ENSP00000372347:Y891C;ENSP00000372348:Y891C;ENSP00000372351:Y891C;ENSP00000372344:Y239C	ENSP00000372344:Y239C	Y	+	2	0	WHSC1	1927371	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.170000	0.94795	2.288000	0.76882	0.533000	0.62120	TAC		0.433	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2		NM_133330		30	47	0	0	0	0.008361	0	30	47		
DOK7	285489	broad.mit.edu	37	4	3475151	3475151	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:3475151T>C	ENST00000340083.5	+	3	184	c.119T>C	c.(118-120)gTc>gCc	p.V40A	DOK7_ENST00000389653.2_Missense_Mutation_p.V40A|DOK7_ENST00000507039.1_Missense_Mutation_p.V40A	NM_173660.4	NP_775931.3	Q18PE1	DOK7_HUMAN	docking protein 7	40	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CTGATGCTGGTCTACAAGGAC	0.687																																						uc003ghd.2		NaN																	0				skin(1)	1						c.(118-120)GTC>GCC		downstream of tyrosine kinase 7 isoform 1							42.0	46.0	45.0					4																	3475151		2112	4217	6329	SO:0001583	missense	285489				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding	g.chr4:3475151T>C	AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000340083.5:c.119T>C	4.37:g.3475151T>C	ENSP00000344432:p.Val40Ala					DOK7_uc003ghe.2_5'UTR	p.V40A	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	3	189	+			40			PH.		A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Missense_Mutation	SNP	ENST00000340083.5	37	c.119T>C	CCDS3370.2	.	.	.	.	.	.	.	.	.	.	T	12.90	2.075244	0.36662	.	.	ENSG00000175920	ENST00000389653;ENST00000507039;ENST00000340083	T;T;T	0.74842	-0.88;-0.88;-0.88	3.7	-0.905	0.10527	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.230126	0.35378	N	0.003252	T	0.59266	0.2181	L	0.43152	1.355	0.36335	D	0.859099	B	0.02656	0.0	B	0.06405	0.002	T	0.48328	-0.9045	10	0.27082	T	0.32	-7.0884	7.7047	0.28642	0.0:0.2465:0.0:0.7535	.	40	Q18PE1	DOK7_HUMAN	A	40	ENSP00000374304:V40A;ENSP00000423614:V40A;ENSP00000344432:V40A	ENSP00000344432:V40A	V	+	2	0	DOK7	3444949	0.998000	0.40836	0.996000	0.52242	0.958000	0.62258	0.509000	0.22707	-0.039000	0.13602	-0.608000	0.04076	GTC		0.687	DOK7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313538.1		NM_173660		16	94	0	0	0	0.004007	0	16	94		
LDB2	9079	broad.mit.edu	37	4	16597444	16597444	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:16597444A>C	ENST00000304523.5	-	3	613	c.290T>G	c.(289-291)gTg>gGg	p.V97G	LDB2_ENST00000503178.2_5'UTR|LDB2_ENST00000441778.2_Missense_Mutation_p.V97G|LDB2_ENST00000503829.1_5'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.V97G|LDB2_ENST00000502640.1_Missense_Mutation_p.V97G	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	97					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CAGGTCGGTCACCCCTCCTTC	0.493																																						uc003goz.2		NaN																	0					0						c.(289-291)GTG>GGG		LIM domain binding 2 isoform a							133.0	107.0	116.0					4																	16597444		2203	4300	6503	SO:0001583	missense	9079						LIM domain binding|transcription cofactor activity	g.chr4:16597444A>C	AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.290T>G	4.37:g.16597444A>C	ENSP00000306772:p.Val97Gly					LDB2_uc003gpa.2_Missense_Mutation_p.V97G|LDB2_uc003gpb.2_Missense_Mutation_p.V97G|LDB2_uc011bxh.1_Missense_Mutation_p.V97G|LDB2_uc010iee.2_Missense_Mutation_p.V97G|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR	p.V97G	NM_001290	NP_001281	O43679	LDB2_HUMAN			3	606	-			97					O60619|O75480	Missense_Mutation	SNP	ENST00000304523.5	37	c.290T>G	CCDS3420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.8|24.8	4.572365|4.572365	0.86542|0.86542	.|.	.|.	ENSG00000169744|ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640;ENST00000506732|ENST00000507464	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|.	0.78142|.	0.4237|.	M|M	0.84219|0.84219	2.685|2.685	0.80722|0.80722	D|D	1|1	D;D;D;D;B|.	0.63046|.	0.985;0.992;0.99;0.972;0.416|.	D;D;P;P;P|.	0.73708|.	0.981;0.938;0.897;0.844;0.507|.	T|.	0.80299|.	-0.1441|.	9|.	0.87932|.	D|.	0|.	-20.1417|-20.1417	15.2591|15.2591	0.73606|0.73606	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	63;97;97;97;97|.	B7Z6D0;E9PFI4;G5E9Y7;O43679-2;O43679|.	.;.;.;.;LDB2_HUMAN|.	G|G	97;97;97;97;73|19	.|.	ENSP00000306772:V97G|.	V|X	-|-	2|1	0|0	LDB2|LDB2	16206542|16206542	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.910000|8.910000	0.92685|0.92685	2.254000|2.254000	0.74563|0.74563	0.460000|0.460000	0.39030|0.39030	GTG|TGA		0.493	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250321.2				5	63	0	0	0	0.004482	0	5	63		
PDS5A	23244	broad.mit.edu	37	4	39850583	39850583	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:39850583T>C	ENST00000303538.8	-	28	3766	c.3227A>G	c.(3226-3228)tAt>tGt	p.Y1076C		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACATACTGTATACAGTTTCTA	0.313																																						uc003guv.3		NaN																	0					0						c.(3226-3228)TAT>TGT		PDS5, regulator of cohesion maintenance, homolog							69.0	62.0	65.0					4																	39850583		1833	4087	5920	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39850583T>C	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3227A>G	4.37:g.39850583T>C	ENSP00000303427:p.Tyr1076Cys					PDS5A_uc010ifo.2_Missense_Mutation_p.Y1036C	p.Y1076C	NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN			28	3767	-			1076						Missense_Mutation	SNP	ENST00000303538.8	37	c.3227A>G	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	T	22.4	4.283534	0.80803	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.75413	0.3846	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	D	0.64237	0.923	T	0.76044	-0.3103	8	.	.	.	-14.2335	15.5645	0.76281	0.0:0.0:0.0:1.0	.	1076	Q29RF7	PDS5A_HUMAN	C	1076	.	.	Y	-	2	0	PDS5A	39526978	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.495000	0.81514	2.117000	0.64856	0.533000	0.62120	TAT		0.313	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1		NM_015200		6	25	0	0	0	0.001168	0	6	25		
GNPDA2	132789	broad.mit.edu	37	4	44709782	44709782	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:44709782C>T	ENST00000295448.3	-	6	912	c.756G>A	c.(754-756)gtG>gtA	p.V252V	GNPDA2_ENST00000507917.1_Silent_p.V218V|GNPDA2_ENST00000511187.1_5'UTR|GNPDA2_ENST00000509756.1_Silent_p.V252V|RP11-700J17.2_ENST00000610267.1_RNA|GNPDA2_ENST00000507534.1_Silent_p.V182V	NM_138335.2	NP_612208.1	Q8TDQ7	GNPI2_HUMAN	glucosamine-6-phosphate deaminase 2	252					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	glucosamine-6-phosphate deaminase activity (GO:0004342)|hydrolase activity (GO:0016787)			endometrium(2)|large_intestine(1)|lung(7)|ovary(1)	11						TAAAGTATTTCACAGTTTTAA	0.388																																					Colon(54;743 1010 7604 16453 19544)	uc003gwy.2		NaN																	0				ovary(1)	1						c.(754-756)GTG>GTA		glucosamine-6-phosphate deaminase 2							69.0	65.0	66.0					4																	44709782		2203	4300	6503	SO:0001819	synonymous_variant	132789				N-acetylglucosamine metabolic process	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity	g.chr4:44709782C>T	AF247786	CCDS3469.1, CCDS59472.1, CCDS59473.1	4p13	2006-04-12			ENSG00000163281	ENSG00000163281	3.5.99.6		21526	protein-coding gene	gene with protein product	"""glucosamine-6-phosphate isomerase"""	613222				12965206	Standard	NM_001270880		Approved	SB52	uc003gwy.4	Q8TDQ7	OTTHUMG00000099415	ENST00000295448.3:c.756G>A	4.37:g.44709782C>T						GNPDA2_uc010iga.2_Silent_p.V218V|GNPDA2_uc011bzb.1_Silent_p.V182V|GNPDA2_uc003gwz.1_Silent_p.V252V	p.V252V	NM_138335	NP_612208	Q8TDQ7	GNPI2_HUMAN			6	913	-			252					B4DJF3|Q2VYF1|Q59EA7|Q8NCZ8|Q96BJ4|Q96NC6	Silent	SNP	ENST00000295448.3	37	c.756G>A	CCDS3469.1																																																																																				0.388	GNPDA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216874.3		NM_138335		10	21	0	0	0	0.001368	0	10	21		
FRYL	285527	broad.mit.edu	37	4	48578237	48578237	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:48578237C>T	ENST00000503238.1	-	21	2530	c.2531G>A	c.(2530-2532)aGc>aAc	p.S844N	FRYL_ENST00000507711.1_Missense_Mutation_p.S844N|FRYL_ENST00000358350.4_Missense_Mutation_p.S844N|RNU5E-3P_ENST00000515913.1_RNA|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.S844N			O94915	FRYL_HUMAN	FRY-like	844					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTGATGGGGCTACTAAGGAA	0.333																																						uc003gyh.1		NaN																	0				skin(1)	1						c.(2530-2532)AGC>AAC		furry-like							87.0	82.0	84.0					4																	48578237		1839	4102	5941	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48578237C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2531G>A	4.37:g.48578237C>T	ENSP00000426064:p.Ser844Asn					FRYL_uc003gyk.2_Missense_Mutation_p.S844N	p.S844N	NM_015030	NP_055845	O94915	FRYL_HUMAN			24	3136	-			844					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.2531G>A	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	C	14.73	2.622784	0.46840	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.45668	1.85;1.85;1.85;0.89	4.9	4.9	0.64082	.	0.000000	0.85682	U	0.000000	T	0.48660	0.1512	L	0.33753	1.03	0.80722	D	1	D;B	0.54601	0.967;0.058	P;B	0.57776	0.827;0.017	T	0.32295	-0.9912	10	0.22109	T	0.4	.	18.0772	0.89431	0.0:1.0:0.0:0.0	.	844;844	F2Z2S2;O94915	.;FRYL_HUMAN	N	844	ENSP00000426064:S844N;ENSP00000351113:S844N;ENSP00000441114:S844N;ENSP00000421584:S844N	ENSP00000351113:S844N	S	-	2	0	FRYL	48272994	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.458000	0.80787	2.253000	0.74438	0.467000	0.42956	AGC		0.333	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2				20	65	0	0	0	0.00278	0	20	65		
AASDH	132949	broad.mit.edu	37	4	57215543	57215543	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:57215543G>T	ENST00000205214.6	-	11	2554	c.2374C>A	c.(2374-2376)Cat>Aat	p.H792N	AASDH_ENST00000513376.1_Missense_Mutation_p.H692N|AASDH_ENST00000502617.1_Missense_Mutation_p.H792N|AASDH_ENST00000602986.1_Missense_Mutation_p.H639N|AASDH_ENST00000451613.1_Missense_Mutation_p.H792N|AASDH_ENST00000434343.2_Missense_Mutation_p.H307N	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	792					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTCATTCTATGAGAATGGGAA	0.418																																						uc003hbn.2		NaN																	0				ovary(4)	4						c.(2374-2376)CAT>AAT		aminoadipate-semialdehyde dehydrogenase							119.0	114.0	116.0					4																	57215543		2203	4300	6503	SO:0001583	missense	132949				fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding	g.chr4:57215543G>T	AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.2374C>A	4.37:g.57215543G>T	ENSP00000205214:p.His792Asn					AASDH_uc010ihb.2_Missense_Mutation_p.H307N|AASDH_uc011caa.1_Missense_Mutation_p.H639N|AASDH_uc003hbo.2_Missense_Mutation_p.H692N|AASDH_uc011cab.1_Missense_Mutation_p.H307N|AASDH_uc010ihc.2_Missense_Mutation_p.H792N|AASDH_uc003hbp.2_Missense_Mutation_p.H792N	p.H792N	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN			11	2527	-	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)	792					A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	c.2374C>A	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564261	0.65651	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.52983	0.64;0.64;0.64;0.64;0.64	6.16	3.22	0.36961	Quinonprotein alcohol dehydrogenase-like (2);	0.275088	0.46758	D	0.000275	T	0.57315	0.2045	L	0.52823	1.66	0.34903	D	0.746677	D;D;D;D	0.69078	0.996;0.997;0.997;0.962	P;D;P;P	0.64687	0.888;0.928;0.897;0.861	T	0.65129	-0.6243	10	0.38643	T	0.18	-0.602	10.08	0.42384	0.0726:0.2567:0.6707:0.0	.	639;792;792;792	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	N	792;692;307;792;639;792	ENSP00000205214:H792N;ENSP00000423760:H692N;ENSP00000392158:H307N;ENSP00000409656:H792N;ENSP00000421171:H792N	ENSP00000205214:H792N	H	-	1	0	AASDH	56910300	1.000000	0.71417	0.345000	0.25642	0.827000	0.46813	4.255000	0.58804	0.839000	0.34971	0.650000	0.86243	CAT		0.418	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1		NM_181806		31	112	1	0	1.88708e-17	0.008361	2.45826e-17	31	112		
YTHDC1	91746	broad.mit.edu	37	4	69196015	69196015	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:69196015G>A	ENST00000344157.4	-	8	1471	c.1136C>T	c.(1135-1137)aCg>aTg	p.T379M	YTHDC1_ENST00000355665.3_Missense_Mutation_p.T361M|YTHDC1_ENST00000579690.1_Missense_Mutation_p.T379M	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	379	YTH. {ECO:0000255|PROSITE- ProRule:PRU00225}.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						TACAGGGAGCGTGGACCATAC	0.318																																						uc003hdx.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1135-1137)ACG>ATG		splicing factor YT521-B isoform 1							32.0	33.0	33.0					4																	69196015		2194	4286	6480	SO:0001583	missense	91746							g.chr4:69196015G>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.1136C>T	4.37:g.69196015G>A	ENSP00000339245:p.Thr379Met					YTHDC1_uc003hdy.2_Missense_Mutation_p.T361M	p.T379M	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			8	1489	-			379			YTH.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.1136C>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009737	0.54361	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.39229	1.09;1.09	5.33	4.49	0.54785	YTH domain (2);	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80674	-0.1277	10	0.87932	D	0	.	14.1664	0.65480	0.0728:0.0:0.9272:0.0	.	361;379	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	M	379;361	ENSP00000339245:T379M;ENSP00000347888:T361M	ENSP00000339245:T379M	T	-	2	0	YTHDC1	68878610	1.000000	0.71417	0.784000	0.31847	0.981000	0.71138	9.409000	0.97331	1.245000	0.43885	0.591000	0.81541	ACG		0.318	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1		NM_133370		13	26	0	0	0	0.003163	0	13	26		
AMBN	258	broad.mit.edu	37	4	71459051	71459051	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:71459051T>C	ENST00000322937.6	+	2	126	c.23T>C	c.(22-24)cTt>cCt	p.L8P	AMBN_ENST00000449493.2_Missense_Mutation_p.L8P	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	8					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TAGATTCCACTTTTCAAAATG	0.353																																						uc003hfl.2		NaN																	0				ovary(3)|skin(1)	4						c.(22-24)CTT>CCT		ameloblastin precursor							113.0	111.0	112.0					4																	71459051		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71459051T>C	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.23T>C	4.37:g.71459051T>C	ENSP00000313809:p.Leu8Pro						p.L8P	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		2	98	+			8					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.23T>C	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.728523	0.48833	.	.	ENSG00000178522	ENST00000322937;ENST00000538728;ENST00000449493	T;T	0.49432	0.78;0.78	4.97	4.97	0.65823	.	0.389820	0.22193	N	0.063360	T	0.64216	0.2578	M	0.63428	1.95	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	T	0.66976	-0.5787	10	0.87932	D	0	-10.3077	11.3149	0.49386	0.0:0.0:0.0:1.0	.	8	Q9NP70	AMBN_HUMAN	P	8	ENSP00000313809:L8P;ENSP00000391234:L8P	ENSP00000313809:L8P	L	+	2	0	AMBN	71493640	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	3.889000	0.56212	1.999000	0.58509	0.528000	0.53228	CTT		0.353	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1		NM_016519		12	83	0	0	0	0.001855	0	12	83		
AMBN	258	broad.mit.edu	37	4	71459067	71459067	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:71459067C>T	ENST00000322937.6	+	2	142	c.39C>T	c.(37-39)gaC>gaT	p.D13D	AMBN_ENST00000449493.2_Silent_p.D13D	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	13					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AAATGAAGGACCTGATACTGA	0.343																																						uc003hfl.2		NaN																	0				ovary(3)|skin(1)	4						c.(37-39)GAC>GAT		ameloblastin precursor							138.0	133.0	135.0					4																	71459067		2203	4300	6503	SO:0001819	synonymous_variant	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71459067C>T	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.39C>T	4.37:g.71459067C>T							p.D13D	NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		2	114	+			13					Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	ENST00000322937.6	37	c.39C>T	CCDS3543.1																																																																																				0.343	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1		NM_016519		17	98	0	0	0	0.001523	0	17	98		
FRAS1	80144	broad.mit.edu	37	4	79367924	79367924	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:79367924G>A	ENST00000264895.6	+	43	6340	c.5900G>A	c.(5899-5901)aGa>aAa	p.R1967K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1967					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCCCCTCAGAGTGCAGCTG	0.433																																						uc003hlb.2		NaN																	0				large_intestine(5)	5						c.(5899-5901)AGA>AAA		Fraser syndrome 1							65.0	70.0	68.0					4																	79367924		1974	4168	6142	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79367924G>A	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.5900G>A	4.37:g.79367924G>A	ENSP00000264895:p.Arg1967Lys						p.R1967K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			43	6340	+			1966			CSPG 8.|Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	c.5900G>A	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.362730	0.01235	.	.	ENSG00000138759	ENST00000264895	T	0.28895	1.59	5.77	4.92	0.64577	.	0.548776	0.18295	N	0.145604	T	0.16938	0.0407	N	0.14661	0.345	0.24662	N	0.993461	B	0.13145	0.007	B	0.08055	0.003	T	0.07770	-1.0755	10	0.27785	T	0.31	.	8.7495	0.34607	0.2104:0.0:0.7896:0.0	.	1967	E9PHH6	.	K	1967	ENSP00000264895:R1967K	ENSP00000264895:R1967K	R	+	2	0	FRAS1	79586948	0.037000	0.19845	0.012000	0.15200	0.005000	0.04900	2.426000	0.44731	2.745000	0.94114	0.650000	0.86243	AGA		0.433	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding					13	25	0	0	0	0.001855	0	13	25		
PRDM8	56978	broad.mit.edu	37	4	81123531	81123531	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:81123531C>T	ENST00000504452.1	+	8	1754	c.915C>T	c.(913-915)atC>atT	p.I305I	PRDM8_ENST00000339711.4_Silent_p.I305I|PRDM8_ENST00000415738.2_Silent_p.I305I			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	305	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCGACGGCATCGCCACGGGCG	0.746											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010ijo.2		NaN																	0				skin(1)	1						c.(913-915)ATC>ATT		PR domain containing 8							4.0	5.0	5.0					4																	81123531		1413	3268	4681	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123531C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.915C>T	4.37:g.81123531C>T			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_uc003hmb.3_Silent_p.I305I|PRDM8_uc003hmc.3_Silent_p.I305I	p.I305I	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN			8	1754	+			305			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.915C>T	CCDS43243.1																																																																																				0.746	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1				8	17	0	0	0	0.00308	0	8	17		
HNRNPD	3184	broad.mit.edu	37	4	83280703	83280703	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:83280703G>A	ENST00000313899.7	-	3	657	c.380C>T	c.(379-381)aCt>aTt	p.T127I	HNRNPD_ENST00000508119.1_5'Flank|HNRNPD_ENST00000541060.1_Intron|HNRNPD_ENST00000352301.4_Missense_Mutation_p.T108I|HNRNPD_ENST00000543098.1_Missense_Mutation_p.T75I|HNRNPD_ENST00000353341.4_Missense_Mutation_p.T127I	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	127	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				circadian regulation of translation (GO:0097167)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|regulation of circadian rhythm (GO:0042752)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TAACTTCAGAGTGCAGTCTAC	0.408																																						uc003hmm.1		NaN																	0					0						c.(379-381)ACT>ATT		heterogeneous nuclear ribonucleoprotein D							125.0	121.0	122.0					4																	83280703		2203	4300	6503	SO:0001583	missense	3184				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding	g.chr4:83280703G>A	AF026126	CCDS3590.1, CCDS3591.1, CCDS3592.1	4q21	2013-02-12	2002-08-29	2008-04-18	ENSG00000138668	ENSG00000138668		"""RNA binding motif (RRM) containing"""	5036	protein-coding gene	gene with protein product		601324	"""heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA-binding protein 1, 37kD)"""	AUF1, HNRPD		9615222	Standard	NM_001003810		Approved		uc003hmm.1	Q14103	OTTHUMG00000130290	ENST00000313899.7:c.380C>T	4.37:g.83280703G>A	ENSP00000313199:p.Thr127Ile					HNRNPD_uc003hml.1_RNA|HNRNPD_uc003hmn.1_Missense_Mutation_p.T108I|HNRNPD_uc003hmo.1_Missense_Mutation_p.T127I|HNRNPD_uc003hmp.1_Missense_Mutation_p.T108I|HNRNPD_uc010ijr.1_Missense_Mutation_p.T108I|HNRNPD_uc011cci.1_Intron	p.T127I	NM_031370	NP_112738	Q14103	HNRPD_HUMAN			3	698	-			127			RRM 1.		A8K9J2|P07029|Q01858|Q14100|Q14101|Q14102|Q4W5A1|Q9UCE8|Q9UCE9	Missense_Mutation	SNP	ENST00000313899.7	37	c.380C>T	CCDS3592.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380420	0.82682	.	.	ENSG00000138668	ENST00000313899;ENST00000353341;ENST00000352301;ENST00000543098;ENST00000307213;ENST00000509263;ENST00000507010;ENST00000515432;ENST00000503822;ENST00000509107	D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	5.86	5.86	0.93980	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.81725	0.4883	N	0.04994	-0.135	0.80722	D	1	P;B;B;B	0.36183	0.542;0.357;0.357;0.41	P;B;B;P	0.47528	0.45;0.396;0.413;0.549	T	0.83225	-0.0066	10	0.62326	D	0.03	.	20.5632	0.99335	0.0:0.0:1.0:0.0	.	108;127;108;127	Q14103-4;Q14103-3;Q14103-2;Q14103	.;.;.;HNRPD_HUMAN	I	127;127;108;75;102;60;127;29;108;81	ENSP00000313199:T127I;ENSP00000313327:T127I;ENSP00000305860:T108I;ENSP00000439380:T75I;ENSP00000420926:T60I;ENSP00000421952:T127I;ENSP00000426666:T29I;ENSP00000422615:T108I;ENSP00000425439:T81I	ENSP00000307544:T102I	T	-	2	0	HNRNPD	83499727	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.358000	0.97109	2.937000	0.99478	0.650000	0.86243	ACT		0.408	HNRNPD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252630.2		NM_031370		28	84	0	0	0	0.00632	0	28	84		
SEC31A	22872	broad.mit.edu	37	4	83778203	83778203	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:83778203T>C	ENST00000395310.2	-	16	1965	c.1783A>G	c.(1783-1785)Atg>Gtg	p.M595V	SEC31A_ENST00000505984.1_Missense_Mutation_p.M556V|SEC31A_ENST00000311785.7_Missense_Mutation_p.M595V|SEC31A_ENST00000348405.4_Missense_Mutation_p.M556V|SEC31A_ENST00000500777.2_Missense_Mutation_p.M556V|SEC31A_ENST00000432794.1_Missense_Mutation_p.M595V|SEC31A_ENST00000448323.1_Missense_Mutation_p.M595V|SEC31A_ENST00000264405.5_Missense_Mutation_p.M328V|SEC31A_ENST00000505472.1_Missense_Mutation_p.M595V|SEC31A_ENST00000508479.1_Missense_Mutation_p.M595V|SEC31A_ENST00000513858.1_Missense_Mutation_p.M556V|SEC31A_ENST00000326950.5_Missense_Mutation_p.M556V|SEC31A_ENST00000509142.1_Missense_Mutation_p.M595V|SEC31A_ENST00000443462.2_Missense_Mutation_p.M590V|SEC31A_ENST00000508502.1_Missense_Mutation_p.M595V|SEC31A_ENST00000355196.2_Missense_Mutation_p.M595V	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	595					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GCATCGGCCATGCGGTTATCA	0.418																																						uc003hnf.2		NaN																SEC31A/JAK2(4)|SEC31A/ALK(3)	0				haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1)	8						c.(1783-1785)ATG>GTG		SEC31 homolog A isoform 1							85.0	80.0	82.0					4																	83778203		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83778203T>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1783A>G	4.37:g.83778203T>C	ENSP00000378721:p.Met595Val					SEC31A_uc003hne.2_Missense_Mutation_p.M328V|SEC31A_uc011ccl.1_Missense_Mutation_p.M556V|SEC31A_uc003hnl.2_Missense_Mutation_p.M556V|SEC31A_uc003hng.2_Missense_Mutation_p.M595V|SEC31A_uc003hnh.2_Missense_Mutation_p.M595V|SEC31A_uc003hni.2_Missense_Mutation_p.M595V|SEC31A_uc003hnj.2_Missense_Mutation_p.M556V|SEC31A_uc011ccm.1_Missense_Mutation_p.M590V|SEC31A_uc011ccn.1_Missense_Mutation_p.M595V|SEC31A_uc003hnk.2_Missense_Mutation_p.M556V|SEC31A_uc003hnm.2_Missense_Mutation_p.M595V|SEC31A_uc003hnn.1_Missense_Mutation_p.M595V	p.M595V	NM_001077207	NP_001070675	O94979	SC31A_HUMAN			16	1947	-		Hepatocellular(203;0.114)	595					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.1783A>G	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.3|24.3	4.519953|4.519953	0.85495|0.85495	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000507828;ENST00000512664|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.38560	.|1.31;1.17;2.36;2.35;1.24;2.25;2.36;1.31;1.24;1.13;1.17;2.36;2.36;3.19;2.3;2.29;2.27	5.75|5.75	5.75|5.75	0.90469|0.90469	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.62792|0.62792	0.2457|0.2457	M|M	0.72118|0.72118	2.19|2.19	0.80722|0.80722	D|D	1|1	.|D;D;P;P;B;P;D;P;D	.|0.54964	.|0.969;0.964;0.943;0.868;0.34;0.925;0.968;0.939;0.963	.|D;P;P;P;B;P;D;P;P	.|0.68621	.|0.925;0.783;0.898;0.561;0.171;0.561;0.959;0.758;0.886	T|T	0.60627|0.60627	-0.7226|-0.7226	5|10	.|0.33141	.|T	.|0.24	-18.8395|-18.8395	16.0591|16.0591	0.80826|0.80826	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|590;556;595;556;556;595;595;595;328	.|B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7	.|.;.;.;.;.;.;.;SC31A_HUMAN;.	R|V	211;109|556;556;595;590;595;595;595;556;595;595;556;595;595;328;556;595;183	.|ENSP00000337602:M556V;ENSP00000426886:M556V;ENSP00000378721:M595V;ENSP00000408027:M590V;ENSP00000426569:M595V;ENSP00000407944:M595V;ENSP00000400926:M595V;ENSP00000325087:M556V;ENSP00000309070:M595V;ENSP00000421633:M595V;ENSP00000421464:M556V;ENSP00000424635:M595V;ENSP00000347329:M595V;ENSP00000264405:M328V;ENSP00000424451:M556V;ENSP00000425999:M595V;ENSP00000422267:M183V	.|ENSP00000264405:M328V	H|M	-|-	2|1	0|0	SEC31A|SEC31A	83997227|83997227	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.262000|6.262000	0.72514|0.72514	2.185000|2.185000	0.69588|0.69588	0.533000|0.533000	0.62120|0.62120	CAT|ATG		0.418	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1		NM_016211		23	61	0	0	0	0.001882	0	23	61		
HELQ	113510	broad.mit.edu	37	4	84364763	84364763	+	Silent	SNP	C	C	T	rs181780148	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:84364763C>T	ENST00000295488.3	-	6	1632	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	HELQ_ENST00000510985.1_Silent_p.T423T	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	490	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TAATTTGAGTCGTTTCTAAAA	0.289								Other identified genes with known or suspected DNA repair function					C|||	2	0.000399361	0.0	0.0	5008	,	,		18789	0.002		0.0	False		,,,				2504	0.0					uc003hom.2		NaN																	0				ovary(1)|breast(1)|skin(1)	3						c.(1468-1470)ACG>ACA	Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function	DNA helicase HEL308							58.0	58.0	58.0					4																	84364763		2199	4298	6497	SO:0001819	synonymous_variant	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84364763C>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.1470G>A	4.37:g.84364763C>T						HELQ_uc010ikb.2_Silent_p.T423T|HELQ_uc003hol.3_RNA|HELQ_uc010ikc.2_Intron	p.T490T	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN			6	1649	-			490			Helicase ATP-binding.		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	c.1470G>A	CCDS3603.1																																																																																				0.289	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1		NM_133636		15	30	0	0	0	0.00245	0	15	30		
WDFY3	23001	broad.mit.edu	37	4	85687004	85687004	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:85687004T>A	ENST00000295888.4	-	32	5554	c.5147A>T	c.(5146-5148)cAg>cTg	p.Q1716L	WDFY3_ENST00000322366.6_Missense_Mutation_p.Q1716L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1716					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGAATCTGTCTGTTCAAGCCA	0.378																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(5146-5148)CAG>CTG		WD repeat and FYVE domain containing 3 isoform							115.0	109.0	111.0					4																	85687004		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85687004T>A	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5147A>T	4.37:g.85687004T>A	ENSP00000295888:p.Gln1716Leu						p.Q1716L	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	32	5555	-		Hepatocellular(203;0.114)	1716					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.5147A>T	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.137101	0.37728	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64085	-0.08;-0.08	5.8	5.8	0.92144	.	0.050313	0.85682	D	0.000000	T	0.47210	0.1433	N	0.22421	0.69	0.58432	D	0.999996	B	0.19583	0.037	B	0.16289	0.015	T	0.42783	-0.9431	10	0.10636	T	0.68	.	16.134	0.81465	0.0:0.0:0.0:1.0	.	1716	Q8IZQ1	WDFY3_HUMAN	L	1716	ENSP00000318466:Q1716L;ENSP00000295888:Q1716L	ENSP00000295888:Q1716L	Q	-	2	0	WDFY3	85906028	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.139000	0.71728	2.216000	0.71823	0.528000	0.53228	CAG		0.378	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		22	79	0	0	0	0.002299	0	22	79		
SLC10A6	345274	broad.mit.edu	37	4	87770173	87770173	+	Silent	SNP	G	G	A	rs556189080		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:87770173G>A	ENST00000273905.6	-	1	243	c.96C>T	c.(94-96)ctC>ctT	p.L32L	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	32					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTGTGAAAACGAGCTCCAGGT	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		17212	0.0		0.0	False		,,,				2504	0.001					uc003hqd.2		NaN																	0					0						c.(94-96)CTC>CTT		sodium-dependent organic anion transporter							82.0	64.0	70.0					4																	87770173		2203	4300	6503	SO:0001819	synonymous_variant	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87770173G>A	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.96C>T	4.37:g.87770173G>A							p.L32L	NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	1	244	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	32			Helical; (Potential).		Q70EX7	Silent	SNP	ENST00000273905.6	37	c.96C>T	CCDS3614.1																																																																																				0.562	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2		NM_197965		24	61	0	0	0	0.00278	0	24	61		
PPP3CA	5530	broad.mit.edu	37	4	102267947	102267947	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:102267947C>T	ENST00000394854.3	-	1	690	c.7G>A	c.(7-9)Gag>Aag	p.E3K	PPP3CA_ENST00000394853.4_Missense_Mutation_p.E3K|PPP3CA_ENST00000507176.1_5'UTR|PPP3CA_ENST00000523694.2_Missense_Mutation_p.E3K|PPP3CA_ENST00000323055.6_Missense_Mutation_p.E3K|AP001816.1_ENST00000527564.1_5'Flank|PPP3CA_ENST00000512215.1_Missense_Mutation_p.E3K	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	3	Catalytic.				calcineurin-NFAT signaling cascade (GO:0033173)|calcium ion transport (GO:0006816)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|multicellular organismal response to stress (GO:0033555)|negative regulation of insulin secretion (GO:0046676)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|protein import into nucleus (GO:0006606)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic transmission (GO:0050804)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|skeletal muscle fiber development (GO:0048741)|T cell activation (GO:0042110)|transition between fast and slow fiber (GO:0014883)	calcineurin complex (GO:0005955)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		GCCTTGGGCTCGGACATCTCC	0.701																																						uc011cen.1		NaN																	0				ovary(1)|skin(1)	2						c.(7-9)GAG>AAG		protein phosphatase 3, catalytic subunit, alpha							75.0	61.0	66.0					4																	102267947		2202	4298	6500	SO:0001583	missense	5530				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding	g.chr4:102267947C>T		CCDS34037.1, CCDS47113.1, CCDS47114.1	4q24	2010-03-17	2010-03-05		ENSG00000138814	ENSG00000138814	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9314	protein-coding gene	gene with protein product	"""calcineurin A alpha"", ""protein phosphatase 2B, catalytic subunit, alpha isoform"""	114105	"""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform (calcineurin A alpha)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, alpha isoform"""	CALN, CALNA		2848250, 1659808	Standard	NM_000944		Approved	CNA1, PPP2B	uc011cen.1	Q08209	OTTHUMG00000133839	ENST00000394854.3:c.7G>A	4.37:g.102267947C>T	ENSP00000378323:p.Glu3Lys					PPP3CA_uc003hvu.2_Missense_Mutation_p.E3K|PPP3CA_uc010ilj.2_Missense_Mutation_p.E3K|PPP3CA_uc003hvt.2_5'UTR|PPP3CA_uc003hvs.2_Missense_Mutation_p.E3K|PPP3CA_uc010ilk.2_Missense_Mutation_p.E3K|uc003hvw.2_5'Flank	p.E3K	NM_000944	NP_000935	Q08209	PP2BA_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)	1	682	-			3			Catalytic.		A1A441|A8K3B7|A8W6Z7|A8W6Z8|B5BUA2|Q8TAW9	Missense_Mutation	SNP	ENST00000394854.3	37	c.7G>A	CCDS34037.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855047	0.51376	.	.	ENSG00000138814	ENST00000512215;ENST00000394854;ENST00000323055;ENST00000394853;ENST00000523694	T;T;T;T;T	0.47528	0.84;2.51;2.53;2.5;2.51	3.14	3.14	0.36123	.	0.000000	0.56097	U	0.000039	T	0.30262	0.0759	N	0.08118	0	0.23396	N	0.997762	B;P;B;P;P	0.47191	0.014;0.891;0.01;0.875;0.826	B;P;B;P;B	0.46049	0.0;0.502;0.005;0.45;0.305	T	0.11817	-1.0572	10	0.29301	T	0.29	-8.8434	11.4483	0.50136	0.0:1.0:0.0:0.0	.	3;3;3;3;3	Q08209;A8W6Z8;A8W6Z7;Q08209-2;A1A441	PP2BA_HUMAN;.;.;.;.	K	3	ENSP00000422781:E3K;ENSP00000378323:E3K;ENSP00000320580:E3K;ENSP00000378322:E3K;ENSP00000429350:E3K	ENSP00000320580:E3K	E	-	1	0	PPP3CA	102486970	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	3.790000	0.55461	1.744000	0.51775	0.313000	0.20887	GAG		0.701	PPP3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258379.2		NM_000944		10	33	0	0	0	0.008291	0	10	33		
CENPE	1062	broad.mit.edu	37	4	104066984	104066984	+	Splice_Site	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:104066984A>T	ENST00000265148.3	-	30	4503		c.e30+1		CENPE_ENST00000380026.3_Splice_Site	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATGAAACCTACTTTAGCTAC	0.308																																						uc003hxb.1		NaN																	0				ovary(5)|breast(4)	9						c.e30+1		centromere protein E							73.0	76.0	75.0					4																	104066984		2201	4299	6500	SO:0001630	splice_region_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104066984A>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4413+1T>A	4.37:g.104066984A>T						CENPE_uc003hxc.1_Splice_Site_p.K1446_splice	p.K1471_splice	NM_001813	NP_001804	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	30	4503	-								A6NKY9|A8K2U7|Q4LE75	Splice_Site	SNP	ENST00000265148.3	37	c.4413_splice	CCDS34042.1	.	.	.	.	.	.	.	.	.	.	A	10.43	1.347989	0.24426	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	.	.	.	5.14	2.5	0.30297	.	.	.	.	.	.	.	.	.	.	.	0.24743	N	0.993026	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.7327	0.23393	0.6897:0.1585:0.0:0.1517	.	.	.	.	.	-1	.	.	.	-	.	.	CENPE	104286433	0.709000	0.27886	0.054000	0.19295	0.769000	0.43574	2.193000	0.42658	0.774000	0.33427	0.523000	0.50628	.		0.308	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				Intron	19	51	0	0	0	0.006122	0	19	51		
PITX2	5308	broad.mit.edu	37	4	111539518	111539518	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:111539518G>A	ENST00000354925.2	-	7	2422	c.717C>T	c.(715-717)ctC>ctT	p.L239L	PITX2_ENST00000394595.3_Nonsense_Mutation_p.Q171*|PITX2_ENST00000394598.2_Silent_p.L239L|RP11-380D23.2_ENST00000503456.1_lincRNA|PITX2_ENST00000306732.3_Silent_p.L246L|PITX2_ENST00000355080.5_Silent_p.L193L|PITX2_ENST00000556049.1_5'Flank	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	239					atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 negative regulation of transcription (GO:0001078)|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 transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TCAGGCTGTTGAGACTGGAGC	0.582																																						uc003iad.2		NaN																	0					0						c.(715-717)CTC>CTT		paired-like homeodomain transcription factor 2							60.0	62.0	61.0					4																	111539518		2203	4300	6503	SO:0001819	synonymous_variant	5308				determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription factor binding	g.chr4:111539518G>A	U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.717C>T	4.37:g.111539518G>A						PITX2_uc003iac.2_Silent_p.L246L|PITX2_uc003iae.2_Silent_p.L193L|PITX2_uc010iml.2_Silent_p.L110L|PITX2_uc003iaf.2_Silent_p.L239L	p.L239L	NM_153426	NP_700475	Q99697	PITX2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00222)	5	1299	-		Hepatocellular(203;0.217)	239					A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Silent	SNP	ENST00000354925.2	37	c.717C>T	CCDS3692.1	.	.	.	.	.	.	.	.	.	.	G	32	5.191535	0.94923	.	.	ENSG00000164093	ENST00000394595	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.31249	N	0.694244	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.6161	0.68549	0.0:0.0:0.8543:0.1457	.	.	.	.	X	171	.	ENSP00000378095:Q171X	Q	-	1	0	PITX2	111758967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.410000	0.59774	2.689000	0.91719	0.655000	0.94253	CAA		0.582	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256308.2				24	65	0	0	0	0.00333	0	24	65		
PRDM5	11107	broad.mit.edu	37	4	121843681	121843681	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:121843681C>T	ENST00000264808.3	-	1	323	c.83G>A	c.(82-84)aGa>aAa	p.R28K	PRDM5_ENST00000394435.2_Missense_Mutation_p.R28K|PRDM5_ENST00000428209.2_Missense_Mutation_p.R28K|PRDM5_ENST00000515109.1_Missense_Mutation_p.R28K	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	28	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTTTCGCACTCTGCGGGCCGT	0.746																																						uc003idn.2		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(82-84)AGA>AAA		PR domain containing 5							19.0	20.0	19.0					4																	121843681		2201	4298	6499	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121843681C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.83G>A	4.37:g.121843681C>T	ENSP00000264808:p.Arg28Lys					PRDM5_uc003ido.2_Missense_Mutation_p.R28K|PRDM5_uc010ine.2_Missense_Mutation_p.R28K|PRDM5_uc010inf.2_Missense_Mutation_p.R28K|PRDM5_uc003idp.1_Missense_Mutation_p.R28K	p.R28K	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN			1	333	-			28			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.83G>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109285	0.77096	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	3.62	3.62	0.41486	SET domain (2);	0.070917	0.50627	U	0.000118	T	0.27489	0.0675	N	0.25647	0.755	0.43355	D	0.995429	B;B;P;B	0.37663	0.162;0.341;0.604;0.162	B;B;B;B	0.36134	0.043;0.083;0.218;0.043	T	0.17837	-1.0356	10	0.54805	T	0.06	-5.6589	14.9174	0.70807	0.0:1.0:0.0:0.0	.	28;28;28;28	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	K	28	ENSP00000264808:R28K;ENSP00000422309:R28K;ENSP00000404832:R28K;ENSP00000377955:R28K	ENSP00000264808:R28K	R	-	2	0	PRDM5	122063131	1.000000	0.71417	0.356000	0.25785	0.776000	0.43924	4.651000	0.61447	1.560000	0.49568	0.298000	0.19748	AGA		0.746	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2				11	32	0	0	0	0.003163	0	11	32		
QRFPR	84109	broad.mit.edu	37	4	122250851	122250851	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:122250851T>A	ENST00000394427.2	-	6	1325	c.914A>T	c.(913-915)tAt>tTt	p.Y305F	Y_RNA_ENST00000384419.1_RNA|QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	305					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GACATCATCATATTCCTTTTC	0.289																																						uc010inj.1		NaN																	0					0						c.(913-915)TAT>TTT		G protein-coupled receptor 103							25.0	26.0	26.0					4																	122250851		2198	4296	6494	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250851T>A	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.914A>T	4.37:g.122250851T>A	ENSP00000377948:p.Tyr305Phe					QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_3'UTR	p.Y305F	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN			6	1293	-			305			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000394427.2	37	c.914A>T	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	T	13.99	2.403254	0.42613	.	.	ENSG00000186867	ENST00000394427	T	0.71222	-0.55	5.47	5.47	0.80525	GPCR, rhodopsin-like superfamily (1);	0.116702	0.64402	D	0.000012	T	0.57681	0.2070	L	0.38175	1.15	0.80722	D	1	P	0.39326	0.668	B	0.34346	0.18	T	0.57087	-0.7871	10	0.12103	T	0.63	.	15.5292	0.75942	0.0:0.0:0.0:1.0	.	305	Q96P65	QRFPR_HUMAN	F	305	ENSP00000377948:Y305F	ENSP00000377948:Y305F	Y	-	2	0	QRFPR	122470301	1.000000	0.71417	0.937000	0.37676	0.964000	0.63967	5.963000	0.70372	2.076000	0.62316	0.402000	0.26972	TAT		0.289	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2		NM_198179		8	10	0	0	0	0.00308	0	8	10		
FAT4	79633	broad.mit.edu	37	4	126370445	126370445	+	Missense_Mutation	SNP	A	A	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:126370445A>C	ENST00000394329.3	+	9	8287	c.8274A>C	c.(8272-8274)aaA>aaC	p.K2758N	FAT4_ENST00000335110.5_Missense_Mutation_p.K1056N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2758	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTTCAGTAAAAGTCATGATTA	0.378																																						uc003ifj.3		NaN																	0				ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2)	18						c.(8272-8274)AAA>AAC		FAT tumor suppressor homolog 4 precursor							84.0	89.0	87.0					4																	126370445		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126370445A>C	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8274A>C	4.37:g.126370445A>C	ENSP00000377862:p.Lys2758Asn					FAT4_uc011cgp.1_Missense_Mutation_p.K1056N|FAT4_uc003ifi.1_Missense_Mutation_p.K236N	p.K2758N	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN			9	8274	+			2758			Cadherin 26.|Extracellular (Potential).		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.8274A>C	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	A	13.01	2.109119	0.37242	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01051	5.4;5.4	5.61	-1.64	0.08318	Cadherin (4);Cadherin-like (1);	0.000000	0.36482	U	0.002566	T	0.00724	0.0024	N	0.16307	0.4	0.33060	D	0.533918	B;B;B	0.32526	0.277;0.154;0.374	B;B;B	0.32342	0.079;0.143;0.144	T	0.53781	-0.8390	10	0.16420	T	0.52	.	7.2737	0.26271	0.5196:0.1183:0.3621:0.0	.	1056;2758;2758	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	N	2758;1056	ENSP00000377862:K2758N;ENSP00000335169:K1056N	ENSP00000335169:K1056N	K	+	3	2	FAT4	126589895	0.978000	0.34361	0.042000	0.18584	0.909000	0.53808	0.414000	0.21164	-0.090000	0.12462	0.533000	0.62120	AAA		0.378	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582		29	109	0	0	0	0.00632	0	29	109		
HSPA4L	22824	broad.mit.edu	37	4	128751844	128751844	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:128751844T>C	ENST00000296464.4	+	18	2629	c.2218T>C	c.(2218-2220)Tgt>Cgt	p.C740R	HSPA4L_ENST00000505726.1_Missense_Mutation_p.C714R|HSPA4L_ENST00000439123.2_Missense_Mutation_p.C771R|HSPA4L_ENST00000508776.1_Missense_Mutation_p.C740R	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	740					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GGTTGAAAAATGTATCAGTGA	0.343																																						uc003ifm.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2218-2220)TGT>CGT		heat shock 70kDa protein 4-like							88.0	87.0	88.0					4																	128751844		2203	4300	6503	SO:0001583	missense	22824				protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding	g.chr4:128751844T>C	AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.2218T>C	4.37:g.128751844T>C	ENSP00000296464:p.Cys740Arg					HSPA4L_uc011cgr.1_Missense_Mutation_p.C707R	p.C740R	NM_014278	NP_055093	O95757	HS74L_HUMAN			18	2471	+			740					A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	c.2218T>C	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	T	7.715	0.695997	0.15106	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.31	4.13	0.48395	.	0.451775	0.26133	N	0.026146	T	0.09158	0.0226	L	0.29908	0.895	0.34144	D	0.666782	B;B	0.16166	0.004;0.016	B;B	0.14023	0.01;0.009	T	0.16012	-1.0417	10	0.28530	T	0.3	.	6.4292	0.21786	0.1387:0.0733:0.0:0.788	.	714;740	E9PDE8;O95757	.;HS74L_HUMAN	R	740;771;740;714	ENSP00000422482:C740R;ENSP00000393926:C771R;ENSP00000296464:C740R;ENSP00000425645:C714R	ENSP00000296464:C740R	C	+	1	0	HSPA4L	128971294	1.000000	0.71417	0.947000	0.38551	0.485000	0.33311	2.058000	0.41374	1.042000	0.40150	0.460000	0.39030	TGT		0.343	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3		NM_014278		18	32	0	0	0	0.007413	0	18	32		
ABCE1	6059	broad.mit.edu	37	4	146046206	146046206	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:146046206G>A	ENST00000296577.4	+	17	2220	c.1705G>A	c.(1705-1707)Gat>Aat	p.D569N	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	569					negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATTCAGAAGAGATCCAAACAA	0.294																																						uc003ijx.2		NaN																	0				skin(1)	1						c.(1705-1707)GAT>AAT		ATP-binding cassette, sub-family E, member 1							63.0	67.0	66.0					4																	146046206		2203	4300	6503	SO:0001583	missense	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146046206G>A	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.1705G>A	4.37:g.146046206G>A	ENSP00000296577:p.Asp569Asn					ABCE1_uc003ijy.2_Missense_Mutation_p.D569N|ABCE1_uc010iot.2_RNA	p.D569N	NM_001040876	NP_001035809	P61221	ABCE1_HUMAN			17	2145	+	all_hematologic(180;0.151)		569					O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	ENST00000296577.4	37	c.1705G>A	CCDS34071.1	.	.	.	.	.	.	.	.	.	.	G	36	5.599798	0.96614	.	.	ENSG00000164163	ENST00000296577	D	0.94723	-3.5	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96975	0.9012	M	0.92169	3.28	0.80722	D	1	D	0.53151	0.958	P	0.49361	0.608	D	0.97580	1.0110	10	0.87932	D	0	-20.8627	20.1047	0.97888	0.0:0.0:1.0:0.0	.	569	P61221	ABCE1_HUMAN	N	569	ENSP00000296577:D569N	ENSP00000296577:D569N	D	+	1	0	ABCE1	146265656	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.695000	0.98691	2.819000	0.97034	0.585000	0.79938	GAT		0.294	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1		NM_002940		16	83	0	0	0	0.001882	0	16	83		
LRBA	987	broad.mit.edu	37	4	151223937	151223937	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:151223937C>T	ENST00000357115.3	-	54	8133	c.7890G>A	c.(7888-7890)ttG>ttA	p.L2630L	LRBA_ENST00000535741.1_Silent_p.L2619L|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Silent_p.L2619L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2630						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCACTTGGATCAATCTTCCTG	0.363																																						uc010ipj.2		NaN																	0				ovary(3)|breast(3)|skin(1)	7						c.(7888-7890)TTG>TTA		LPS-responsive vesicle trafficking, beach and							132.0	122.0	125.0					4																	151223937		2203	4300	6503	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151223937C>T	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.7890G>A	4.37:g.151223937C>T						LRBA_uc010ipi.2_Silent_p.L152L|LRBA_uc003ils.3_Silent_p.L525L|LRBA_uc003ilt.3_Silent_p.L1278L|LRBA_uc003ilu.3_Silent_p.L2619L|LRBA_uc003ilr.3_Silent_p.L50L	p.L2630L	NM_006726	NP_006717	P50851	LRBA_HUMAN			54	8364	-	all_hematologic(180;0.151)		2630			WD 2.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.7890G>A	CCDS3773.1																																																																																				0.363	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1				18	70	0	0	0	0.007413	0	18	70		
FBXW7	55294	broad.mit.edu	37	4	153250906	153250906	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:153250906G>T	ENST00000281708.4	-	8	2383	c.1154C>A	c.(1153-1155)aCa>aAa	p.T385K	FBXW7_ENST00000296555.5_Missense_Mutation_p.T267K|FBXW7_ENST00000603548.1_Missense_Mutation_p.T385K|FBXW7_ENST00000603841.1_Missense_Mutation_p.T385K|FBXW7_ENST00000393956.3_Missense_Mutation_p.T209K|FBXW7_ENST00000263981.5_Missense_Mutation_p.T305K	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	385					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTGTAAGCATGTGATCACATG	0.343			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		1	Unknown(1)		haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1153-1155)ACA>AAA		F-box and WD repeat domain containing 7 isoform							120.0	108.0	112.0					4																	153250906		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153250906G>T	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1154C>A	4.37:g.153250906G>T	ENSP00000281708:p.Thr385Lys					FBXW7_uc011cii.1_Missense_Mutation_p.T385K|FBXW7_uc003imt.2_Missense_Mutation_p.T385K|FBXW7_uc011cih.1_Missense_Mutation_p.T209K|FBXW7_uc003imq.2_Missense_Mutation_p.T305K|FBXW7_uc003imr.2_Missense_Mutation_p.T267K	p.T385K	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			8	1303	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	385			WD 1.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1154C>A	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.901258	0.92035	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.99	5.99	0.97316	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	L	0.49571	1.57	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;1.0;1.0;1.0	T	0.76653	-0.2880	10	0.72032	D	0.01	-15.0332	20.5373	0.99239	0.0:0.0:1.0:0.0	.	209;385;267;305	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	K	385;267;305;209	ENSP00000281708:T385K;ENSP00000296555:T267K;ENSP00000263981:T305K;ENSP00000377528:T209K	ENSP00000263981:T305K	T	-	2	0	FBXW7	153470356	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.865000	0.99609	2.857000	0.98124	0.650000	0.86243	ACA		0.343	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				20	92	1	0	2.37509e-13	0.001523	3.05818e-13	20	92		
TRIM2	23321	broad.mit.edu	37	4	154243942	154243942	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:154243942G>A	ENST00000437508.2	+	9	2045	c.1844G>A	c.(1843-1845)cGa>cAa	p.R615Q	TRIM2_ENST00000338700.5_Missense_Mutation_p.R642Q	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	615					cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		TTTGGTAGCCGAGGAAATGGG	0.473																																						uc003ing.2		NaN																	0				central_nervous_system(1)	1						c.(1843-1845)CGA>CAA		tripartite motif-containing 2 isoform 2							92.0	77.0	82.0					4																	154243942		2203	4300	6503	SO:0001583	missense	23321					cytoplasm	zinc ion binding	g.chr4:154243942G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1844G>A	4.37:g.154243942G>A	ENSP00000415812:p.Arg615Gln					TRIM2_uc003inh.2_Missense_Mutation_p.R642Q	p.R615Q	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	9	2045	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)	615			NHL 4.		D3DP09|O60272|Q9BSI9|Q9UFZ1	Missense_Mutation	SNP	ENST00000437508.2	37	c.1844G>A	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572798	0.86542	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	D;D	0.90197	-2.63;-2.63	5.37	5.37	0.77165	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.93884	0.8043	L	0.54965	1.715	0.80722	D	1	B;D	0.89917	0.052;1.0	B;D	0.74023	0.006;0.982	D	0.92385	0.5916	10	0.31617	T	0.26	-20.0704	19.1165	0.93343	0.0:0.0:1.0:0.0	.	642;615	D3DP09;Q9C040	.;TRIM2_HUMAN	Q	615;642	ENSP00000415812:R615Q;ENSP00000339659:R642Q	ENSP00000339659:R642Q	R	+	2	0	TRIM2	154463392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.010000	0.88615	2.500000	0.84329	0.655000	0.94253	CGA		0.473	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1				22	47	0	0	0	0.002299	0	22	47		
TRIM2	23321	broad.mit.edu	37	4	154243969	154243969	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:154243969G>A	ENST00000437508.2	+	9	2071		c.e9+1		TRIM2_ENST00000338700.5_Splice_Site	NM_001130067.1	NP_001123539.1	Q9C040	TRIM2_HUMAN	tripartite motif containing 2						cell death (GO:0008219)|regulation of neuron apoptotic process (GO:0043523)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CAGTTTGCAGGTACACTCGAT	0.473																																						uc003ing.2		NaN																	0				central_nervous_system(1)	1						c.e9+1		tripartite motif-containing 2 isoform 2							87.0	71.0	76.0					4																	154243969		2203	4300	6503	SO:0001630	splice_region_variant	23321					cytoplasm	zinc ion binding	g.chr4:154243969G>A	AF220018	CCDS3781.2, CCDS47147.1	4q31.3	2013-01-09	2011-01-25		ENSG00000109654	ENSG00000109654		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15974	protein-coding gene	gene with protein product		614141	"""tripartite motif-containing 2"""			9628581, 11331580	Standard	NM_015271		Approved	KIAA0517, RNF86	uc003inh.2	Q9C040	OTTHUMG00000155991	ENST00000437508.2:c.1870+1G>A	4.37:g.154243969G>A						TRIM2_uc003inh.2_Splice_Site_p.G651_splice	p.G624_splice	NM_001130067	NP_001123539	Q9C040	TRIM2_HUMAN		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)	9	2071	+	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)						D3DP09|O60272|Q9BSI9|Q9UFZ1	Splice_Site	SNP	ENST00000437508.2	37	c.1870_splice	CCDS47147.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232641	0.79688	.	.	ENSG00000109654	ENST00000437508;ENST00000338700	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6758	0.91528	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM2	154463419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.393000	0.81446	0.655000	0.94253	.		0.473	TRIM2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342652.1			Intron	25	35	0	0	0	0.005443	0	25	35		
RBM46	166863	broad.mit.edu	37	4	155749131	155749131	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:155749131G>A	ENST00000281722.3	+	5	1749	c.1514G>A	c.(1513-1515)gGc>gAc	p.G505D	RBM46_ENST00000510397.1_3'UTR	NM_144979.3	NP_659416.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	505							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TCTTATCCAGGCTATCCTTTG	0.453																																						uc003ioo.2		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1513-1515)GGC>GAC		RNA binding motif protein 46							178.0	171.0	174.0					4																	155749131		2203	4300	6503	SO:0001583	missense	166863						nucleotide binding|RNA binding	g.chr4:155749131G>A	BC028588	CCDS3790.1, CCDS64085.1, CCDS64086.1	4q32.1	2013-02-12				ENSG00000151962		"""RNA binding motif (RRM) containing"""	28401	protein-coding gene	gene with protein product	"""cancer/testis antigen 68"""					12477932	Standard	NM_144979		Approved	MGC27016, CT68	uc003ioo.4	Q8TBY0		ENST00000281722.3:c.1514G>A	4.37:g.155749131G>A	ENSP00000281722:p.Gly505Asp					RBM46_uc011cim.1_3'UTR|RBM46_uc003iop.1_3'UTR	p.G505D	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN			5	1687	+	all_hematologic(180;0.24)	Renal(120;0.0854)	505					B3KWU8|B4DZ27	Missense_Mutation	SNP	ENST00000281722.3	37	c.1514G>A	CCDS3790.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.741086	0.49151	.	.	ENSG00000151962	ENST00000281722	T	0.15603	2.41	5.67	5.67	0.87782	.	0.418528	0.22827	N	0.055145	T	0.12518	0.0304	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.16070	-1.0415	10	0.59425	D	0.04	-0.0104	19.7524	0.96273	0.0:0.0:1.0:0.0	.	505	Q8TBY0	RBM46_HUMAN	D	505	ENSP00000281722:G505D	ENSP00000281722:G505D	G	+	2	0	RBM46	155968581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.102000	0.57776	2.836000	0.97738	0.655000	0.94253	GGC		0.453	RBM46-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365259.1		NM_144979		59	176	0	0	0	0.00361	0	59	176		
NPY5R	4889	broad.mit.edu	37	4	164272420	164272420	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:164272420G>A	ENST00000515560.1	+	4	2517	c.995G>A	c.(994-996)gGg>gAg	p.G332E	NPY5R_ENST00000506953.1_Missense_Mutation_p.G332E|NPY5R_ENST00000338566.3_Missense_Mutation_p.G332E			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	332					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TTCATACCAGGGGTCCCCACT	0.398																																					Melanoma(139;1287 1774 9781 19750 25599)	uc003iqn.2		NaN																	0				lung(6)|skin(1)	7						c.(994-996)GGG>GAG		neuropeptide Y receptor Y5							68.0	70.0	70.0					4																	164272420		2203	4300	6503	SO:0001583	missense	4889				cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		g.chr4:164272420G>A	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.995G>A	4.37:g.164272420G>A	ENSP00000423917:p.Gly332Glu						p.G332E	NM_006174	NP_006165	Q15761	NPY5R_HUMAN			4	1177	+	all_hematologic(180;0.166)	Prostate(90;0.109)	332			Cytoplasmic (Potential).		Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	37	c.995G>A	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.093270	0.56075	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.70749	-0.51;-0.51;-0.51	4.49	3.6	0.41247	GPCR, rhodopsin-like superfamily (1);	0.177690	0.25890	N	0.027626	T	0.80523	0.4639	M	0.68952	2.095	0.42742	D	0.993748	D	0.89917	1.0	D	0.83275	0.996	T	0.77624	-0.2518	10	0.17832	T	0.49	.	14.7688	0.69659	0.0:0.146:0.854:0.0	.	332	Q15761	NPY5R_HUMAN	E	332	ENSP00000339377:G332E;ENSP00000423917:G332E;ENSP00000423474:G332E	ENSP00000339377:G332E	G	+	2	0	NPY5R	164491870	1.000000	0.71417	0.997000	0.53966	0.963000	0.63663	5.274000	0.65569	1.128000	0.42052	0.467000	0.42956	GGG		0.398	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1		NM_006174		12	58	0	0	0	0.00245	0	12	58		
PALLD	23022	broad.mit.edu	37	4	169819719	169819719	+	Missense_Mutation	SNP	G	G	A	rs559000839		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:169819719G>A	ENST00000505667.1	+	14	2499	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	PALLD_ENST00000512127.1_Missense_Mutation_p.E377K|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.E272K|PALLD_ENST00000261509.6_Missense_Mutation_p.E759K|PALLD_ENST00000335742.7_Missense_Mutation_p.E601K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	983	Interaction with EPS8. {ECO:0000250}.|Pro-rich.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCCTGTGGATGAATCAGGTGA	0.408									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	uc011cjx.1		NaN																	0				ovary(1)	1						c.(2326-2328)GAA>AAA		palladin isoform 2							121.0	112.0	115.0					4																	169819719		2203	4300	6503	SO:0001583	missense	23022	Pancreatic_Cancer_Familial_Clustering_of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169819719G>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2326G>A	4.37:g.169819719G>A	ENSP00000425556:p.Glu776Lys					CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Missense_Mutation_p.E759K|PALLD_uc003irv.2_Missense_Mutation_p.E377K|PALLD_uc003irw.2_Missense_Mutation_p.E261K|PALLD_uc003irx.2_5'UTR	p.E776K	NM_016081	NP_057165	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	14	2537	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	983					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.2326G>A	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146571	0.57044	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000510998;ENST00000393726;ENST00000507735	T;T;T;T;T;T;T	0.67345	-0.24;-0.26;0.15;-0.18;0.02;0.22;0.11	5.55	5.55	0.83447	.	0.249514	0.20395	U	0.093179	T	0.73305	0.3570	M	0.74647	2.275	0.80722	D	1	P;P;P;P	0.48694	0.914;0.7;0.856;0.914	P;B;B;P	0.46452	0.517;0.193;0.193;0.517	T	0.72107	-0.4390	10	0.30078	T	0.28	.	19.4975	0.95079	0.0:0.0:1.0:0.0	.	776;983;377;759	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	K	759;601;776;377;52;52;272	ENSP00000261509:E759K;ENSP00000336735:E601K;ENSP00000425556:E776K;ENSP00000426947:E377K;ENSP00000422135:E52K;ENSP00000377327:E52K;ENSP00000424016:E272K	ENSP00000261509:E759K	E	+	1	0	PALLD	170056294	1.000000	0.71417	0.276000	0.24689	0.040000	0.13550	9.869000	0.99810	2.607000	0.88179	0.585000	0.79938	GAA		0.408	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1		NM_016081		12	57	0	0	0	0.000978	0	12	57		
UFSP2	55325	broad.mit.edu	37	4	186324770	186324770	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:186324770C>T	ENST00000264689.6	-	11	1317	c.1201G>A	c.(1201-1203)Gga>Aga	p.G401R		NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	401						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	small conjugating protein-specific protease activity (GO:0019783)|thiolester hydrolase activity (GO:0016790)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		AAAACTCCTCCCCCTATAGAA	0.413																																						uc003ixo.2		NaN																	0					0						c.(1201-1203)GGA>AGA		UFM1-specific peptidase 2							82.0	79.0	80.0					4																	186324770		2203	4300	6503	SO:0001583	missense	55325					endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity	g.chr4:186324770C>T	AK002062	CCDS3842.1	4q35.1	2008-03-25	2008-03-25	2008-03-25	ENSG00000109775	ENSG00000109775			25640	protein-coding gene	gene with protein product		611482	"""chromosome 4 open reading frame 20"""	C4orf20		17182609	Standard	NM_018359		Approved	FLJ11200	uc003ixo.2	Q9NUQ7	OTTHUMG00000160441	ENST00000264689.6:c.1201G>A	4.37:g.186324770C>T	ENSP00000264689:p.Gly401Arg					UFSP2_uc003ixn.2_Missense_Mutation_p.G276R|UFSP2_uc003ixq.2_Missense_Mutation_p.G291R|UFSP2_uc003ixp.2_RNA	p.G401R	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)	11	1318	-		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	401					Q6IA77|Q96FS3	Missense_Mutation	SNP	ENST00000264689.6	37	c.1201G>A	CCDS3842.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.484867|4.484867	0.84854|0.84854	.|.	.|.	ENSG00000109775|ENSG00000109775	ENST00000511485|ENST00000264689	T|T	0.34275|0.32023	1.37|1.47	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.097788|0.097788	0.64402|0.64402	D|D	0.000001|0.000001	T|T	0.71617|0.71617	0.3361|0.3361	H|H	0.97103|0.97103	3.94|3.94	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.998;1.0	.|D;D	.|0.83275	.|0.983;0.996	T|T	0.81088|0.81088	-0.1091|-0.1091	8|10	0.87932|0.72032	D|D	0|0.01	-15.9808|-15.9808	20.0318|20.0318	0.97543|0.97543	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|401;301	.|Q9NUQ7;B3KRI4	.|UFSP2_HUMAN;.	E|R	299|401	ENSP00000425855:G299E|ENSP00000264689:G401R	ENSP00000425855:G299E|ENSP00000264689:G401R	G|G	-|-	2|1	0|0	UFSP2|UFSP2	186561764|186561764	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.702000|0.702000	0.40608|0.40608	7.436000|7.436000	0.80404|0.80404	2.800000|2.800000	0.96347|0.96347	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.413	UFSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360589.2		NM_018359		19	63	0	0	0	0.007413	0	19	63		
FASTKD3	79072	broad.mit.edu	37	5	7867567	7867567	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:7867567T>C	ENST00000264669.5	-	2	766	c.630A>G	c.(628-630)aaA>aaG	p.K210K	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000341013.6_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	210					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCATGCCACCTTTTCTGAGAC	0.433																																						uc003jeb.2		NaN																	0				ovary(2)|breast(1)|pancreas(1)	4						c.(628-630)AAA>AAG		FAST kinase domains 3							107.0	107.0	107.0					5																	7867567		2203	4300	6503	SO:0001819	synonymous_variant	79072				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr5:7867567T>C	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.630A>G	5.37:g.7867567T>C						FASTKD3_uc011cmp.1_Intron|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank	p.K210K	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN			2	767	-			210					Q9BVD3	Silent	SNP	ENST00000264669.5	37	c.630A>G	CCDS3873.1																																																																																				0.433	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1		NM_024091		45	96	0	0	0	0.002522	0	45	96		
PDZD2	23037	broad.mit.edu	37	5	32059441	32059441	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:32059441C>A	ENST00000438447.1	+	13	2685	c.2297C>A	c.(2296-2298)gCc>gAc	p.A766D	PDZD2_ENST00000282493.3_Missense_Mutation_p.A766D			O15018	PDZD2_HUMAN	PDZ domain containing 2	766	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GGATCAGTGGCCAAGATGGAG	0.448																																						uc003jhl.2		NaN																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(2296-2298)GCC>GAC		PDZ domain containing 2							102.0	87.0	92.0					5																	32059441		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32059441C>A	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.2297C>A	5.37:g.32059441C>A	ENSP00000402033:p.Ala766Asp					PDZD2_uc003jhm.2_Missense_Mutation_p.A766D|PDZD2_uc011cnx.1_Missense_Mutation_p.A592D	p.A766D	NM_178140	NP_835260	O15018	PDZD2_HUMAN			13	2685	+			766			PDZ 4.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.2297C>A	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	32	5.132278	0.94473	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.44881	0.91;0.91	5.79	5.79	0.91817	PDZ/DHR/GLGF (4);	0.000000	0.45867	D	0.000325	T	0.76572	0.4006	H	0.96489	3.83	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83865	0.0270	10	0.87932	D	0	.	17.516	0.87773	0.0:1.0:0.0:0.0	.	592;766	B4E3P2;O15018	.;PDZD2_HUMAN	D	766;585;766	ENSP00000402033:A766D;ENSP00000282493:A766D	ENSP00000282493:A766D	A	+	2	0	PDZD2	32095198	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.342000	0.79310	2.726000	0.93360	0.655000	0.94253	GCC		0.448	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1				17	43	1	0	6.49762e-13	0.006122	8.3114e-13	17	43		
RAI14	26064	broad.mit.edu	37	5	34821857	34821857	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:34821857A>G	ENST00000265109.3	+	14	1302	c.1015A>G	c.(1015-1017)Ata>Gta	p.I339V	RAI14_ENST00000503673.1_Missense_Mutation_p.I339V|RAI14_ENST00000397449.1_Missense_Mutation_p.I332V|RAI14_ENST00000515799.1_Missense_Mutation_p.I342V|RAI14_ENST00000428746.2_Missense_Mutation_p.I339V|RAI14_ENST00000512629.1_Missense_Mutation_p.I310V|RAI14_ENST00000506376.1_Missense_Mutation_p.I331V	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	339						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					CTTATTGGATATAAGTTCTGA	0.348																																						uc003jir.2		NaN																	0				ovary(1)	1						c.(1015-1017)ATA>GTA		retinoic acid induced 14 isoform a							120.0	115.0	117.0					5																	34821857		2202	4300	6502	SO:0001583	missense	26064					cell cortex|cytoskeleton	protein binding	g.chr5:34821857A>G	AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1015A>G	5.37:g.34821857A>G	ENSP00000265109:p.Ile339Val					RAI14_uc010iur.2_Missense_Mutation_p.I310V|RAI14_uc011coj.1_Missense_Mutation_p.I339V|RAI14_uc010ius.1_Missense_Mutation_p.I268V|RAI14_uc003jis.2_Missense_Mutation_p.I342V|RAI14_uc003jit.2_Missense_Mutation_p.I339V|RAI14_uc011cok.1_Missense_Mutation_p.I331V	p.I339V	NM_015577	NP_056392	Q9P0K7	RAI14_HUMAN			14	1211	+	all_lung(31;0.000191)		339					E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	ENST00000265109.3	37	c.1015A>G	CCDS34142.1	.	.	.	.	.	.	.	.	.	.	A	2.993	-0.207790	0.06180	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.35421	1.36;1.31;1.36;1.36;1.36;1.4;1.39	5.55	-1.3	0.09259	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.16514	0.0397	N	0.11560	0.145	0.23940	N	0.996407	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.0;0.002;0.0	T	0.32322	-0.9911	9	0.14252	T	0.57	-3.6694	8.9594	0.35838	0.3849:0.1219:0.4932:0.0	.	331;310;342;339	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	V	339;310;339;339;342;331;332	ENSP00000265109:I339V;ENSP00000422377:I310V;ENSP00000388725:I339V;ENSP00000422942:I339V;ENSP00000427123:I342V;ENSP00000423854:I331V;ENSP00000380591:I332V	ENSP00000265109:I339V	I	+	1	0	RAI14	34857614	0.216000	0.23585	0.989000	0.46669	0.996000	0.88848	-0.317000	0.08060	-0.169000	0.10834	0.528000	0.53228	ATA		0.348	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1		NM_015577		22	97	0	0	0	0.00278	0	22	97		
NIPBL	25836	broad.mit.edu	37	5	37059268	37059268	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:37059268G>A	ENST00000282516.8	+	44	8184		c.e44+1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTCTGATAGGTAAGGTTACA	0.358																																						uc003jkl.3		NaN																	0				ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1)	9						c.e44+1		delangin isoform A							59.0	64.0	62.0					5																	37059268		2202	4299	6501	SO:0001630	splice_region_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37059268G>A	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.7685+1G>A	5.37:g.37059268G>A						NIPBL_uc003jkk.3_Splice_Site_p.S2562_splice|NIPBL_uc003jkn.2_Splice_Site_p.S255_splice	p.S2562_splice	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		44	8184	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)							Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Splice_Site	SNP	ENST00000282516.8	37	c.7685_splice	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.254577	0.80135	.	.	ENSG00000164190	ENST00000282516;ENST00000448238;ENST00000513819;ENST00000507919	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NIPBL	37095025	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.444000	0.97578	2.767000	0.95098	0.563000	0.77884	.		0.358	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1		NM_015384	Intron	18	77	0	0	0	0.00499	0	18	77		
C9	735	broad.mit.edu	37	5	39341658	39341658	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:39341658C>T	ENST00000263408.4	-	3	423	c.328G>A	c.(328-330)Ggc>Agc	p.G110S	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	110	LDL-receptor class A. {ECO:0000255|PROSITE-ProRule:PRU00124}.				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)			CAAAGATTACCTGTACTGCAT	0.463																																						uc003jlv.3		NaN																	0					0						c.(328-330)GGC>AGC		complement component 9 precursor							101.0	87.0	92.0					5																	39341658		2203	4300	6503	SO:0001630	splice_region_variant	735				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		g.chr5:39341658C>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.328+1G>A	5.37:g.39341658C>T							p.G110S	NM_001737	NP_001728	P02748	CO9_HUMAN	Epithelial(62;0.158)		3	417	-	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)	110			LDL-receptor class A.			Missense_Mutation	SNP	ENST00000263408.4	37	c.328G>A	CCDS3929.1	.	.	.	.	.	.	.	.	.	.	C	19.87	3.907079	0.72868	.	.	ENSG00000113600	ENST00000263408	D	0.92595	-3.07	5.51	5.51	0.81932	.	0.364292	0.31061	N	0.008330	D	0.96312	0.8797	M	0.82433	2.59	0.54753	D	0.999989	D	0.89917	1.0	D	0.97110	1.0	D	0.96069	0.9044	9	.	.	.	-19.0803	18.1957	0.89820	0.0:1.0:0.0:0.0	.	110	P02748	CO9_HUMAN	S	110	ENSP00000263408:G110S	.	G	-	1	0	C9	39377415	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	4.491000	0.60326	2.590000	0.87494	0.561000	0.74099	GGC		0.463	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211576.3			Missense_Mutation	20	86	0	0	0	0.00278	0	20	86		
MROH2B	133558	broad.mit.edu	37	5	41009477	41009477	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:41009477C>T	ENST00000399564.4	-	32	3775	c.3325G>A	c.(3325-3327)Gaa>Aaa	p.E1109K	MROH2B_ENST00000506092.2_Missense_Mutation_p.E664K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1109																	GCTGGCTTTTCAGCCAGCGCC	0.498																																						uc003jmj.3		NaN																	0				ovary(6)|central_nervous_system(2)	8						c.(3325-3327)GAA>AAA		HEAT repeat family member 7B2							91.0	95.0	94.0					5																	41009477		1852	4104	5956	SO:0001583	missense	133558						binding	g.chr5:41009477C>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3325G>A	5.37:g.41009477C>T	ENSP00000382476:p.Glu1109Lys					HEATR7B2_uc003jmi.3_Missense_Mutation_p.E664K	p.E1109K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			32	3815	-			1109					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3325G>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	6.980	0.550878	0.13374	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.04809	3.55;3.55	6.06	3.23	0.37069	Armadillo-type fold (1);	0.188110	0.37761	N	0.001941	T	0.04907	0.0132	M	0.62723	1.935	0.29912	N	0.823458	P	0.34587	0.458	B	0.31869	0.137	T	0.13602	-1.0503	10	0.06365	T	0.9	.	8.5709	0.33569	0.0:0.633:0.2888:0.0783	.	1109	Q7Z745	HTRB2_HUMAN	K	664;814;1109	ENSP00000441504:E664K;ENSP00000382476:E1109K	ENSP00000296803:E814K	E	-	1	0	HEATR7B2	41045234	1.000000	0.71417	0.999000	0.59377	0.239000	0.25481	2.152000	0.42272	0.890000	0.36211	-0.175000	0.13238	GAA		0.498	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2		NM_173489		49	121	0	0	0	0.00361	0	49	121		
PARP8	79668	broad.mit.edu	37	5	50090057	50090057	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:50090057G>A	ENST00000281631.5	+	11	912	c.754G>A	c.(754-756)Gtt>Att	p.V252I	PARP8_ENST00000505554.1_Missense_Mutation_p.V231I|PARP8_ENST00000514067.2_Missense_Mutation_p.V252I|PARP8_ENST00000505697.2_Missense_Mutation_p.V252I|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.V5I|PARP8_ENST00000503750.2_Missense_Mutation_p.V252I	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	252						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCAGACATTTGTTACACAGCA	0.343																																						uc003jon.3		NaN																	0				lung(3)|large_intestine(1)|ovary(1)	5						c.(754-756)GTT>ATT		poly (ADP-ribose) polymerase family, member 8							91.0	93.0	93.0					5																	50090057		2203	4300	6503	SO:0001583	missense	79668					intracellular	NAD+ ADP-ribosyltransferase activity	g.chr5:50090057G>A	AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.754G>A	5.37:g.50090057G>A	ENSP00000281631:p.Val252Ile					PARP8_uc011cpz.1_Missense_Mutation_p.V144I|PARP8_uc003joo.2_Missense_Mutation_p.V252I|PARP8_uc003jop.2_Missense_Mutation_p.V252I	p.V252I	NM_024615	NP_078891	Q8N3A8	PARP8_HUMAN			12	936	+		Lung NSC(810;0.0305)|Breast(144;0.222)	252					Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	ENST00000281631.5	37	c.754G>A	CCDS3954.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814147	0.70912	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000514342;ENST00000281631;ENST00000514067;ENST00000505554;ENST00000503561;ENST00000423185	.	.	.	5.42	5.42	0.78866	.	0.231983	0.35262	N	0.003328	T	0.42063	0.1186	N	0.11427	0.14	0.45528	D	0.998482	D;B;B	0.54207	0.965;0.218;0.274	P;B;B	0.50314	0.637;0.056;0.158	T	0.27123	-1.0083	8	.	.	.	-4.2829	13.8374	0.63417	0.0736:0.0:0.9264:0.0	.	144;252;252	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	I	252;252;5;252;252;231;5;5	.	.	V	+	1	0	PARP8	50125814	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.021000	0.76425	2.690000	0.91761	0.655000	0.94253	GTT		0.343	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214035.3		NM_024615		13	48	0	0	0	0.001855	0	13	48		
CDC20B	166979	broad.mit.edu	37	5	54436170	54436170	+	Silent	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:54436170G>C	ENST00000381375.2	-	5	697	c.552C>G	c.(550-552)ctC>ctG	p.L184L	CDC20B_ENST00000322374.6_Silent_p.L184L|CDC20B_ENST00000331730.3_Silent_p.L163L|CDC20B_ENST00000334206.5_Silent_p.L184L|CDC20B_ENST00000296733.1_Silent_p.L184L			Q86Y33	CD20B_HUMAN	cell division cycle 20B	184										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTGCTCACAGAGCTGCATTT	0.408																																						uc003jpo.1		NaN																	0					0						c.(550-552)CTC>CTG		CDC20 cell division cycle 20 homolog B isoform							114.0	96.0	102.0					5																	54436170		2203	4300	6503	SO:0001819	synonymous_variant	166979							g.chr5:54436170G>C	AB086378	CCDS3966.1, CCDS47207.1, CCDS54852.1	5q11.2	2013-01-17	2013-01-17		ENSG00000164287	ENSG00000164287		"""WD repeat domain containing"""	24222	protein-coding gene	gene with protein product			"""CDC20 cell division cycle 20 homolog B (S. cerevisiae)"", ""cell division cycle 20 homolog B (S. cerevisiae)"""				Standard	NM_152623		Approved	FLJ37927	uc003jpo.2	Q86Y33	OTTHUMG00000131185	ENST00000381375.2:c.552C>G	5.37:g.54436170G>C						CDC20B_uc003jpn.1_Silent_p.L184L|CDC20B_uc010ivu.1_Silent_p.L184L|CDC20B_uc010ivv.1_Silent_p.L184L|CDC20B_uc003jpp.2_RNA	p.L184L	NM_152623	NP_689836	Q86Y33	CD20B_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.225)		5	727	-		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	184					B7WNV8|B9EGL8|C9J6X8|C9JHE9|C9JKL5|Q86Y31|Q86Y32|Q8IUZ8|Q8N1S1|Q8NG56	Silent	SNP	ENST00000381375.2	37	c.552C>G	CCDS54852.1																																																																																				0.408	CDC20B-004	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369715.1		NM_152623		18	38	0	0	0	0.008871	0	18	38		
ARSB	411	broad.mit.edu	37	5	78280775	78280775	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:78280775G>A	ENST00000264914.4	-	1	833	c.297C>T	c.(295-297)ctC>ctT	p.L99L	ARSB_ENST00000396151.3_Silent_p.L99L|ARSB_ENST00000565165.1_Silent_p.L99L	NM_000046.3	NP_000037.2	P15848	ARSB_HUMAN	arylsulfatase B	99					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|central nervous system development (GO:0007417)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|lysosomal transport (GO:0007041)|lysosome organization (GO:0007040)|post-translational protein modification (GO:0043687)|response to estrogen (GO:0043627)|response to methylmercury (GO:0051597)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|rough endoplasmic reticulum (GO:0005791)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)		AGCGGCCAGTGAGCAGCTGGC	0.781																																					Melanoma(169;563 1968 25780 26156 52266)	uc003kfq.2		NaN																	0				upper_aerodigestive_tract(1)	1						c.(295-297)CTC>CTT		arylsulfatase B isoform 1 precursor							4.0	5.0	4.0					5																	78280775		1600	3460	5060	SO:0001819	synonymous_variant	411				lysosomal transport|lysosome organization	lysosome	arylsulfatase activity|metal ion binding|N-acetylgalactosamine-4-sulfatase activity	g.chr5:78280775G>A	M32373	CCDS4043.1, CCDS43334.1	5q14.1	2013-02-14			ENSG00000113273	ENSG00000113273	3.1.6.1	"""Arylsulfatase family"""	714	protein-coding gene	gene with protein product		611542				2303452	Standard	NM_000046		Approved		uc003kfq.3	P15848	OTTHUMG00000108129	ENST00000264914.4:c.297C>T	5.37:g.78280775G>A						ARSB_uc003kfr.3_Silent_p.L99L	p.L99L	NM_000046	NP_000037	P15848	ARSB_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.24e-44)|Epithelial(54;3.12e-39)|all cancers(79;3.02e-34)	1	1583	-		all_lung(232;0.000637)|Lung NSC(167;0.00173)|Ovarian(174;0.0105)|Prostate(461;0.192)	99					B2RC20|Q8N322|Q9UDI9	Silent	SNP	ENST00000264914.4	37	c.297C>T	CCDS4043.1																																																																																				0.781	ARSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226932.2		NM_000046		5	10	0	0	0	0.000602	0	5	10		
ZFYVE16	9765	broad.mit.edu	37	5	79733327	79733327	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:79733327G>T	ENST00000338008.5	+	3	1003	c.823G>T	c.(823-825)Gtt>Ttt	p.V275F	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.V275F|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.V275F	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	275					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACTAAAAGATGTTGGCTTAGT	0.418																																					Melanoma(150;1452 1854 16018 17851 37292)	uc003kgr.3		NaN																	0					0						c.(823-825)GTT>TTT		zinc finger, FYVE domain containing 16							65.0	68.0	67.0					5																	79733327		2202	4296	6498	SO:0001583	missense	9765				BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	g.chr5:79733327G>T	AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.823G>T	5.37:g.79733327G>T	ENSP00000337159:p.Val275Phe					ZFYVE16_uc010jak.1_Missense_Mutation_p.V275F|ZFYVE16_uc003kgp.2_Missense_Mutation_p.V275F|ZFYVE16_uc003kgq.3_Missense_Mutation_p.V275F|ZFYVE16_uc003kgs.3_Missense_Mutation_p.V275F	p.V275F	NM_001105251	NP_001098721	Q7Z3T8	ZFY16_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)	4	1125	+		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)	275					O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	ENST00000338008.5	37	c.823G>T	CCDS4050.1	.	.	.	.	.	.	.	.	.	.	G	5.661	0.306660	0.10733	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.37752	1.18;1.18;1.18	5.09	3.28	0.37604	.	0.993735	0.08165	N	0.987890	T	0.22044	0.0531	N	0.14661	0.345	0.09310	N	1	B;B	0.26147	0.03;0.143	B;B	0.24394	0.053;0.035	T	0.17992	-1.0351	10	0.49607	T	0.09	-2.1035	5.9406	0.19192	0.3129:0.0:0.6871:0.0	.	275;275	Q7Z3T8-3;Q7Z3T8	.;ZFY16_HUMAN	F	275	ENSP00000337159:V275F;ENSP00000423663:V275F;ENSP00000426848:V275F	ENSP00000337159:V275F	V	+	1	0	ZFYVE16	79769083	0.001000	0.12720	0.188000	0.23233	0.198000	0.23893	1.022000	0.30052	1.273000	0.44346	0.467000	0.42956	GTT		0.418	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226982.2		NM_014733		32	82	1	0	6.00712e-18	0.002445	7.83844e-18	32	82		
GPR98	84059	broad.mit.edu	37	5	90086879	90086879	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:90086879C>A	ENST00000405460.2	+	70	14329	c.14233C>A	c.(14233-14235)Ctg>Atg	p.L4745M	GPR98_ENST00000425867.2_Missense_Mutation_p.L406M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4745					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGAACTGGATCTGGAGAAGAG	0.443																																						uc003kju.2		NaN																	0				ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(14233-14235)CTG>ATG		G protein-coupled receptor 98 precursor							146.0	132.0	137.0					5																	90086879		1926	4125	6051	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90086879C>A	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14233C>A	5.37:g.90086879C>A	ENSP00000384582:p.Leu4745Met					GPR98_uc003kjt.2_Missense_Mutation_p.L2451M|GPR98_uc003kjw.2_Missense_Mutation_p.L406M	p.L4745M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	70	14329	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4745			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.14233C>A	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	3.542	-0.093419	0.07053	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.28666	1.6;1.6	5.7	-0.0487	0.13837	.	1.382960	0.04050	N	0.304640	T	0.28532	0.0706	L	0.52011	1.625	0.09310	N	1	B;B;B	0.09022	0.001;0.0;0.002	B;B;B	0.10450	0.003;0.001;0.005	T	0.28073	-1.0055	10	0.46703	T	0.11	.	5.4854	0.16747	0.3604:0.4027:0.1724:0.0644	.	406;4745;406	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	M	4745;4745;406	ENSP00000384582:L4745M;ENSP00000392618:L406M	ENSP00000296619:L4745M	L	+	1	2	GPR98	90122635	0.013000	0.17824	0.001000	0.08648	0.006000	0.05464	0.248000	0.18198	0.051000	0.15978	0.655000	0.94253	CTG		0.443	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2		NM_032119		25	58	1	0	3.08376e-08	0.00333	3.83134e-08	25	58		
MCTP1	79772	broad.mit.edu	37	5	94245027	94245027	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:94245027T>C	ENST00000515393.1	-	10	1580	c.1581A>G	c.(1579-1581)gaA>gaG	p.E527E	MCTP1_ENST00000312216.8_Silent_p.E306E|MCTP1_ENST00000429576.2_Silent_p.E260E|MCTP1_ENST00000505078.1_Silent_p.E43E|MCTP1_ENST00000505208.1_Silent_p.E306E	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	527	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CTCCTCTTTCTTCATAAAGGT	0.368																																						uc003kkx.2		NaN																	0				ovary(2)	2						c.(1579-1581)GAA>GAG		multiple C2 domains, transmembrane 1 isoform L							86.0	83.0	84.0					5																	94245027		2203	4300	6503	SO:0001819	synonymous_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94245027T>C		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1581A>G	5.37:g.94245027T>C						MCTP1_uc003kkv.2_Silent_p.E306E|MCTP1_uc003kkw.2_Silent_p.E260E|MCTP1_uc003kkz.2_Silent_p.E188E|MCTP1_uc003kku.2_Silent_p.E43E	p.E527E	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	10	1581	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	527			C2 2.		Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Silent	SNP	ENST00000515393.1	37	c.1581A>G	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	T	9.093	1.002112	0.19121	.	.	ENSG00000175471	ENST00000503301	.	.	.	5.68	0.301	0.15781	.	.	.	.	.	T	0.42314	0.1197	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21381	-1.0247	4	.	.	.	-20.2985	1.8678	0.03202	0.1069:0.2678:0.1905:0.4347	.	.	.	.	G	290	.	.	R	-	1	2	MCTP1	94270783	0.208000	0.23494	0.997000	0.53966	0.991000	0.79684	-0.522000	0.06237	-0.158000	0.11040	0.477000	0.44152	AGA		0.368	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3		NM_024717		19	70	0	0	0	0.006122	0	19	70		
CHD1	1105	broad.mit.edu	37	5	98240643	98240643	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:98240643T>G	ENST00000284049.3	-	2	362	c.213A>C	c.(211-213)gaA>gaC	p.E71D		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	71					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GAACTTTGTTTTCTCGGGAAG	0.433																																						uc003knf.2		NaN																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(211-213)GAA>GAC		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)						166.0	160.0	162.0					5																	98240643		2203	4300	6503	SO:0001583	missense	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98240643T>G	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.213A>C	5.37:g.98240643T>G	ENSP00000284049:p.Glu71Asp						p.E71D	NM_001270	NP_001261	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	2	361	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	71					Q17RZ3	Missense_Mutation	SNP	ENST00000284049.3	37	c.213A>C	CCDS34204.1	.	.	.	.	.	.	.	.	.	.	T	16.24	3.068791	0.55539	.	.	ENSG00000153922	ENST00000284049;ENST00000540681	D	0.89875	-2.58	4.85	-4.22	0.03800	.	0.224109	0.20844	N	0.084642	T	0.77818	0.4187	L	0.32530	0.975	0.51012	D	0.999901	B	0.32918	0.39	B	0.32211	0.142	T	0.61787	-0.6991	10	0.39692	T	0.17	.	7.9246	0.29867	0.0:0.4769:0.2406:0.2825	.	71	O14646	CHD1_HUMAN	D	71	ENSP00000284049:E71D	ENSP00000284049:E71D	E	-	3	2	CHD1	98268543	0.994000	0.37717	0.941000	0.38009	0.997000	0.91878	0.298000	0.19120	-0.459000	0.07013	0.460000	0.39030	GAA		0.433	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1		NM_001270		65	98	0	0	0	0.00361	0	65	98		
SLC25A46	91137	broad.mit.edu	37	5	110097170	110097170	+	Silent	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:110097170A>T	ENST00000355943.3	+	8	1071	c.945A>T	c.(943-945)ccA>ccT	p.P315P	SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000509432.1_Silent_p.P102P|SLC25A46_ENST00000447245.2_Silent_p.P234P|SLC25A46_ENST00000509442.2_Silent_p.P224P|SLC25A46_ENST00000513807.1_Silent_p.P153P|SLC25A46_ENST00000504098.1_Silent_p.P169P	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	315					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		CTTATTTTCCAGAACTTATTG	0.413																																						uc003koz.2		NaN																	0					0						c.(943-945)CCA>CCT		solute carrier family 25, member 46							276.0	269.0	271.0					5																	110097170		2202	4300	6502	SO:0001819	synonymous_variant	91137				transport	integral to membrane|mitochondrial inner membrane		g.chr5:110097170A>T	BC017169	CCDS4100.1	5q22.1	2013-05-22			ENSG00000164209	ENSG00000164209		"""Solute carriers"""	25198	protein-coding gene	gene with protein product		610826				1651562, 1651563, 16949250	Standard	NM_138773		Approved		uc003koz.3	Q96AG3	OTTHUMG00000128794	ENST00000355943.3:c.945A>T	5.37:g.110097170A>T						SLC25A46_uc011cvi.1_Silent_p.P224P	p.P315P	NM_138773	NP_620128	Q96AG3	S2546_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)	8	1012	+		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)	315			Solcar 2.|Helical; Name=5; (Potential).		A8K2F2|B3KRE6|B4DTA3|D3DSZ6|D6R9W7|Q04197	Silent	SNP	ENST00000355943.3	37	c.945A>T	CCDS4100.1																																																																																				0.413	SLC25A46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250721.5		NM_138773		86	215	0	0	0	0.00361	0	86	215		
EPB41L4A	64097	broad.mit.edu	37	5	111506035	111506035	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:111506035C>T	ENST00000261486.5	-	20	1978	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K	EPB41L4A_ENST00000507810.1_5'UTR	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	568						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AATTGTTCTTCGGACAATCCG	0.363																																						uc003kpv.1		NaN																	0				ovary(1)	1						c.(1702-1704)GAA>AAA		erythrocyte protein band 4.1-like 4							138.0	129.0	132.0					5																	111506035		1831	4081	5912	SO:0001583	missense	64097					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	g.chr5:111506035C>T	AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000261486.5:c.1702G>A	5.37:g.111506035C>T	ENSP00000261486:p.Glu568Lys					EPB41L4A_uc003kpp.1_Missense_Mutation_p.E195K|EPB41L4A_uc003kpu.1_5'Flank	p.E568K	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)	20	1976	-		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)	568					A4FUI6	Missense_Mutation	SNP	ENST00000261486.5	37	c.1702G>A	CCDS43350.1	.	.	.	.	.	.	.	.	.	.	C	19.63	3.862980	0.71949	.	.	ENSG00000129595	ENST00000261486	D	0.84873	-1.91	5.21	4.34	0.51931	.	0.188248	0.44097	D	0.000490	T	0.77398	0.4124	L	0.29908	0.895	0.38427	D	0.946333	D;B	0.56521	0.976;0.078	B;B	0.41299	0.353;0.029	T	0.81050	-0.1108	10	0.72032	D	0.01	.	12.9011	0.58125	0.0:0.9198:0.0:0.0802	.	568;195	Q9HCS5;Q8N8X1	E41LA_HUMAN;.	K	568	ENSP00000261486:E568K	ENSP00000261486:E568K	E	-	1	0	EPB41L4A	111533934	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	5.894000	0.69806	1.181000	0.42912	0.563000	0.77884	GAA		0.363	EPB41L4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370969.1				11	37	0	0	0	0.001855	0	11	37		
YTHDC2	64848	broad.mit.edu	37	5	112903525	112903525	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:112903525C>T	ENST00000161863.4	+	23	3436	c.3223C>T	c.(3223-3225)Cag>Tag	p.Q1075*		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1075					ATP catabolic process (GO:0006200)|positive regulation by host of viral genome replication (GO:0044829)|response to interleukin-1 (GO:0070555)|response to tumor necrosis factor (GO:0034612)	endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA polymerase binding (GO:0070063)|RNA-dependent ATPase activity (GO:0008186)			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TAATGCTCTTCAGGAACCTTC	0.318																																						uc003kqn.2		NaN																	0				skin(2)|central_nervous_system(1)	3						c.(3223-3225)CAG>TAG		YTH domain containing 2							99.0	96.0	97.0					5																	112903525		2202	4300	6502	SO:0001587	stop_gained	64848						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:112903525C>T	AK000915	CCDS4113.1	5q22.3	2008-02-05			ENSG00000047188	ENSG00000047188			24721	protein-coding gene	gene with protein product						12477932	Standard	NM_022828		Approved	FLJ2194, FLJ10053, DKFZp564A186	uc003kqn.3	Q9H6S0	OTTHUMG00000128837	ENST00000161863.4:c.3223C>T	5.37:g.112903525C>T	ENSP00000161863:p.Gln1075*						p.Q1075*	NM_022828	NP_073739	Q9H6S0	YTDC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)	23	3406	+		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)	1075					B2RP66	Nonsense_Mutation	SNP	ENST00000161863.4	37	c.3223C>T	CCDS4113.1	.	.	.	.	.	.	.	.	.	.	C	43	10.451652	0.99407	.	.	ENSG00000047188	ENST00000161863;ENST00000511372	.	.	.	5.47	5.47	0.80525	.	0.208186	0.42172	D	0.000755	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	.	14.1907	0.65637	0.1497:0.8503:0.0:0.0	.	.	.	.	X	1075;985	.	ENSP00000161863:Q1075X	Q	+	1	0	YTHDC2	112931424	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.889000	0.56212	2.561000	0.86390	0.655000	0.94253	CAG		0.318	YTHDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250776.2		NM_022828		40	79	0	0	0	0.00361	0	40	79		
ACSL6	23305	broad.mit.edu	37	5	131310491	131310491	+	Intron	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:131310491G>T	ENST00000379240.1	-	11	1147				ACSL6_ENST00000379249.3_Missense_Mutation_p.S318Y|ACSL6_ENST00000379272.2_Intron|ACSL6_ENST00000379264.2_Intron|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000379244.1_Missense_Mutation_p.S318Y|ACSL6_ENST00000543479.1_Missense_Mutation_p.S318Y|ACSL6_ENST00000379246.1_Intron|ACSL6_ENST00000544770.1_Intron|ACSL6_ENST00000431707.1_Intron|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000296869.4_Missense_Mutation_p.S343Y			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6						acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCAAATAGGAAATGTGCAC	0.542																																						uc010jdo.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3						c.(952-954)TCC>TAC		acyl-CoA synthetase long-chain family member 6							62.0	56.0	58.0					5																	131310491		2203	4300	6503	SO:0001627	intron_variant	23305				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr5:131310491G>T	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.993+94C>A	5.37:g.131310491G>T						ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.S343Y|ACSL6_uc003kvy.1_Intron|ACSL6_uc003kwb.2_Missense_Mutation_p.S308Y|ACSL6_uc003kvz.1_Intron|ACSL6_uc003kwa.1_Intron|ACSL6_uc003kvw.1_5'Flank|ACSL6_uc010jdn.1_Intron|ACSL6_uc010jdp.1_Intron	p.S318Y	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1036	-		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	318			Cytoplasmic (Potential).		J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	ENST00000379240.1	37	c.953C>A		.	.	.	.	.	.	.	.	.	.	G	20.9	4.073508	0.76415	.	.	ENSG00000164398	ENST00000379249;ENST00000296869;ENST00000379244;ENST00000543479;ENST00000434099	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.16	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.81182	0.4769	H	0.99336	4.52	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.994	D	0.88235	0.2906	10	0.87932	D	0	.	13.4504	0.61167	0.0758:0.0:0.9242:0.0	.	318;308;343	Q9UKU0-3;B4DFW3;Q9UKU0-8	.;.;.	Y	318;343;318;318;283	ENSP00000368551:S318Y;ENSP00000296869:S343Y;ENSP00000368546:S318Y;ENSP00000442124:S318Y;ENSP00000397507:S283Y	ENSP00000296869:S343Y	S	-	2	0	ACSL6	131338390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.647000	0.91057	1.194000	0.43101	0.555000	0.69702	TCC		0.542	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000132622.1		NM_015256		10	23	1	0	0.00621372	0.006214	0.00750463	10	23		
SLC22A4	6583	broad.mit.edu	37	5	131630518	131630518	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:131630518G>A	ENST00000200652.3	+	1	383	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	P4HA2_ENST00000471826.1_Intron	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	70					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	GTCCCGCTGCGGCTGCGGGAC	0.726																																						uc003kwq.2		NaN																	0					0						c.(208-210)CGG>CAG		solute carrier family 22 member 4	L-Carnitine(DB00583)						15.0	19.0	18.0					5																	131630518		2197	4281	6478	SO:0001583	missense	6583				body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity	g.chr5:131630518G>A	AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.209G>A	5.37:g.131630518G>A	ENSP00000200652:p.Arg70Gln					uc003kwm.3_Intron|SLC22A4_uc010jdq.1_5'Flank	p.R70Q	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	374	+		all_cancers(142;0.0752)|Breast(839;0.198)	70			Extracellular (Potential).		O14546	Missense_Mutation	SNP	ENST00000200652.3	37	c.209G>A	CCDS4153.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424424	0.25639	.	.	ENSG00000197208	ENST00000200652	T	0.73258	-0.73	4.54	-1.25	0.09405	Major facilitator superfamily domain, general substrate transporter (1);	1.748540	0.02803	N	0.123471	T	0.42966	0.1226	N	0.04705	-0.18	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.18461	-1.0336	10	0.15066	T	0.55	.	0.4532	0.00504	0.3591:0.1307:0.167:0.3431	.	70	Q9H015	S22A4_HUMAN	Q	70	ENSP00000200652:R70Q	ENSP00000200652:R70Q	R	+	2	0	SLC22A4	131658417	0.718000	0.27976	0.722000	0.30670	0.985000	0.73830	0.463000	0.21972	-0.108000	0.12066	0.561000	0.74099	CGG		0.726	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132661.1		NM_003059		13	21	0	0	0	0.001368	0	13	21		
GDF9	2661	broad.mit.edu	37	5	132197956	132197956	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:132197956A>G	ENST00000378673.2	-	3	1556	c.690T>C	c.(688-690)agT>agC	p.S230S	GDF9_ENST00000296875.2_Silent_p.S230S|GDF9_ENST00000464378.1_5'Flank			O60383	GDF9_HUMAN	growth differentiation factor 9	230					female gamete generation (GO:0007292)|negative regulation of cell growth (GO:0030308)|oocyte growth (GO:0001555)|positive regulation of cell proliferation (GO:0008284)|regulation of progesterone secretion (GO:2000870)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACATGTGAATACTTCTCTTGT	0.408																																						uc003kxz.1		NaN																	0				skin(1)	1						c.(688-690)AGT>AGC		growth differentiation factor 9 precursor							119.0	117.0	117.0					5																	132197956		2203	4300	6503	SO:0001819	synonymous_variant	2661				female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr5:132197956A>G		CCDS4162.1, CCDS75299.1	5q31.1	2014-01-30			ENSG00000164404	ENSG00000164404		"""Endogenous ligands"""	4224	protein-coding gene	gene with protein product		601918				7760846	Standard	NM_005260		Approved		uc003kxz.1	O60383	OTTHUMG00000059842	ENST00000378673.2:c.690T>C	5.37:g.132197956A>G						GDF9_uc011cxj.1_Silent_p.S142S	p.S230S	NM_005260	NP_005251	O60383	GDF9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		2	942	-		all_cancers(142;0.105)|Breast(839;0.198)	230					Q4VAW5	Silent	SNP	ENST00000378673.2	37	c.690T>C	CCDS4162.1																																																																																				0.408	GDF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133060.2		NM_005260		31	62	0	0	0	0.008361	0	31	62		
AFF4	27125	broad.mit.edu	37	5	132223808	132223808	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:132223808T>A	ENST00000265343.5	-	15	3156	c.2777A>T	c.(2776-2778)aAg>aTg	p.K926M		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	926					spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGCATTGTGCTTTAGCTTTTT	0.274																																					Ovarian(126;889 1733 2942 10745 11605)	uc003kyd.2		NaN																	0				ovary(2)|kidney(2)|skin(1)	5						c.(2776-2778)AAG>ATG		ALL1 fused gene from 5q31							111.0	106.0	108.0					5																	132223808		2202	4300	6502	SO:0001583	missense	27125				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:132223808T>A	AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.2777A>T	5.37:g.132223808T>A	ENSP00000265343:p.Lys926Met					AFF4_uc011cxk.1_Missense_Mutation_p.K604M	p.K926M	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		15	3185	-		all_cancers(142;0.145)|Breast(839;0.198)	926					B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Missense_Mutation	SNP	ENST00000265343.5	37	c.2777A>T	CCDS4164.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.376653	0.61735	.	.	ENSG00000072364	ENST00000265343	T	0.76839	-1.05	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.89245	0.6660	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90934	0.4792	10	0.87932	D	0	-13.9312	16.0339	0.80608	0.0:0.0:0.0:1.0	.	926	Q9UHB7	AFF4_HUMAN	M	926	ENSP00000265343:K926M	ENSP00000265343:K926M	K	-	2	0	AFF4	132251707	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.008000	0.88588	2.194000	0.70268	0.524000	0.50904	AAG		0.274	AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1		NM_014423		14	36	0	0	0	0.00245	0	14	36		
C5orf15	56951	broad.mit.edu	37	5	133295523	133295523	+	Missense_Mutation	SNP	G	G	A	rs11540542		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:133295523G>A	ENST00000231512.3	-	2	530	c.328C>T	c.(328-330)Cct>Tct	p.P110S	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	110						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			TGAGACAGAGGAGTAGGCGAG	0.493																																						uc003kyo.2		NaN																	0					0						c.(328-330)CCT>TCT		keratinocytes associated transmembrane protein 2							70.0	61.0	64.0					5																	133295523		2203	4300	6503	SO:0001583	missense	56951					integral to membrane		g.chr5:133295523G>A	AF226055	CCDS4167.1	5q31.1	2012-02-22			ENSG00000113583	ENSG00000113583			20656	protein-coding gene	gene with protein product	"""keratinocytes associated transmembrane protein 2"""						Standard	NM_020199		Approved	KCT2, HTGN29	uc003kyo.3	Q8NC54	OTTHUMG00000129125	ENST00000231512.3:c.328C>T	5.37:g.133295523G>A	ENSP00000231512:p.Pro110Ser						p.P110S	NM_020199	NP_064584	Q8NC54	KCT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		2	459	-			110			Extracellular (Potential).		B2RD10|D3DQ92|Q9NRG2	Missense_Mutation	SNP	ENST00000231512.3	37	c.328C>T	CCDS4167.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330511	0.10956	.	.	ENSG00000113583	ENST00000231512	.	.	.	5.69	-11.4	0.00090	.	1.085870	0.06945	N	0.813483	T	0.13670	0.0331	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.07597	-1.0764	9	0.18276	T	0.48	-0.0149	2.3442	0.04267	0.1042:0.2462:0.2164:0.4333	.	110	Q8NC54	KCT2_HUMAN	S	110	.	ENSP00000231512:P110S	P	-	1	0	C5orf15	133323422	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.076000	0.03420	-2.315000	0.00646	-3.511000	0.00033	CCT		0.493	C5orf15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251175.1		NM_020199		8	34	0	0	0	0.006214	0	8	34		
CDC25C	995	broad.mit.edu	37	5	137622194	137622194	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:137622194G>A	ENST00000323760.6	-	12	1430	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	CDC25C_ENST00000356505.3_Silent_p.G354G|CDC25C_ENST00000514555.1_Silent_p.G354G|CDC25C_ENST00000348983.3_Silent_p.G311G|CDC25C_ENST00000357274.3_Silent_p.G341G|CDC25C_ENST00000513970.1_Silent_p.G384G|CDC25C_ENST00000415130.2_Silent_p.G311G	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	384	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|WW domain binding (GO:0050699)			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACATTCGGGGGCCCCTCTCTG	0.478																																						uc003lcp.1		NaN																	0				lung(3)	3						c.(1150-1152)GGC>GGT		cell division cycle 25C isoform a							73.0	76.0	75.0					5																	137622194		2203	4300	6503	SO:0001819	synonymous_variant	995				cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding	g.chr5:137622194G>A	M34065	CCDS4202.1, CCDS4203.1	5q31	2013-01-17	2013-01-17		ENSG00000158402	ENSG00000158402		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1727	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 60"""	157680	"""cell division cycle 25C"", ""cell division cycle 25 homolog C (S. cerevisiae)"", ""cell division cycle 25 homolog C (S. pombe)"""	CDC25		1703321	Standard	XM_005272145		Approved	PPP1R60	uc003lcp.1	P30307	OTTHUMG00000129203	ENST00000323760.6:c.1152C>T	5.37:g.137622194G>A						CDC25C_uc003lcq.1_Silent_p.G311G|CDC25C_uc003lcr.1_Silent_p.G384G|CDC25C_uc011cyp.1_Silent_p.G401G|CDC25C_uc003lcs.1_Silent_p.G462G	p.G384G	NM_001790	NP_001781	P30307	MPIP3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		12	1423	-			384			Rhodanese.		D3DQB8|Q96PL3|Q9H168|Q9H2E8|Q9H2E9|Q9H2F1	Silent	SNP	ENST00000323760.6	37	c.1152C>T	CCDS4202.1	.	.	.	.	.	.	.	.	.	.	G	8.044	0.764614	0.15914	.	.	ENSG00000158402	ENST00000514017	.	.	.	5.06	0.68	0.17980	.	.	.	.	.	T	0.46034	0.1372	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24012	-1.0172	4	.	.	.	-15.703	4.3189	0.11007	0.4815:0.0:0.3665:0.152	.	.	.	.	S	186	.	.	P	-	1	0	CDC25C	137650093	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	0.676000	0.25247	-0.003000	0.14444	-0.345000	0.07892	CCC		0.478	CDC25C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251280.1				43	97	0	0	0	0.002222	0	43	97		
PCDHA6	56142	broad.mit.edu	37	5	140209996	140209996	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:140209996C>T	ENST00000529310.1	+	1	2434	c.2320C>T	c.(2320-2322)Ccc>Tcc	p.P774S	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	774					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTTTAGCCCCAGCCTTTC	0.517																																						uc003lho.2		NaN																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(2320-2322)CCC>TCC		protocadherin alpha 6 isoform 1 precursor							64.0	68.0	66.0					5																	140209996		2203	4300	6503	SO:0001583	missense	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140209996C>T	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.2320C>T	5.37:g.140209996C>T	ENSP00000433378:p.Pro774Ser					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.P774S	p.P774S	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2347	+			774			Cytoplasmic (Potential).		O75283|Q9NRT8	Missense_Mutation	SNP	ENST00000529310.1	37	c.2320C>T	CCDS47281.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737508	0.30774	.	.	ENSG00000081842	ENST00000529310	T	0.26957	1.7	4.02	4.02	0.46733	.	0.000000	0.36591	U	0.002504	T	0.57902	0.2085	M	0.92219	3.285	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.927	T	0.68006	-0.5523	10	0.87932	D	0	.	11.8756	0.52546	0.1747:0.8253:0.0:0.0	.	774;774	Q9UN73-3;Q9UN73	.;PCDA6_HUMAN	S	774	ENSP00000433378:P774S	ENSP00000433378:P774S	P	+	1	0	PCDHA6	140190180	0.024000	0.19004	0.997000	0.53966	0.097000	0.18754	0.135000	0.15952	2.221000	0.72209	0.313000	0.20887	CCC		0.517	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3		NM_018909		34	75	0	0	0	0.006999	0	34	75		
SLC36A2	153201	broad.mit.edu	37	5	150701700	150701700	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:150701700C>T	ENST00000335244.4	-	9	1216	c.1087G>A	c.(1087-1089)Gaa>Aaa	p.E363K	SLC36A2_ENST00000450886.1_Missense_Mutation_p.E87K|SLC36A2_ENST00000521967.1_Missense_Mutation_p.E363K	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	363					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	ATGATGATTTCTGCAGGGACG	0.552																																						uc003lty.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1087-1089)GAA>AAA		solute carrier family 36, member 2							151.0	137.0	141.0					5																	150701700		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150701700C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.1087G>A	5.37:g.150701700C>T	ENSP00000334223:p.Glu363Lys					GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.E165K|SLC36A2_uc010jhv.2_Missense_Mutation_p.E363K	p.E363K	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	1217	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	363			Helical; (Potential).		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.1087G>A	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575268	0.86645	.	.	ENSG00000186335	ENST00000335244;ENST00000450886;ENST00000521967	T;T;T	0.02323	4.34;4.34;4.34	4.76	4.76	0.60689	.	0.162995	0.52532	D	0.000063	T	0.12774	0.0310	M	0.71581	2.175	0.80722	D	1	P;P	0.40834	0.73;0.572	P;P	0.55391	0.775;0.596	T	0.00458	-1.1727	10	0.45353	T	0.12	-12.0824	18.3127	0.90206	0.0:1.0:0.0:0.0	.	363;363	E5RJJ5;Q495M3	.;S36A2_HUMAN	K	363;87;363	ENSP00000334223:E363K;ENSP00000399479:E87K;ENSP00000430535:E363K	ENSP00000334223:E363K	E	-	1	0	SLC36A2	150681893	1.000000	0.71417	0.967000	0.41034	0.727000	0.41649	7.305000	0.78891	2.621000	0.88768	0.563000	0.77884	GAA		0.552	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1				25	63	0	0	0	0.00333	0	25	63		
FAT2	2196	broad.mit.edu	37	5	150931089	150931089	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:150931089C>T	ENST00000261800.5	-	6	4247	c.4235G>A	c.(4234-4236)aGa>aAa	p.R1412K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1412	Cadherin 12. {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)			GTTCGACCTTCTCCTGGTATC	0.537																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(4234-4236)AGA>AAA		FAT tumor suppressor 2 precursor							180.0	153.0	162.0					5																	150931089		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.chr5:150931089C>T	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.4235G>A	5.37:g.150931089C>T	ENSP00000261800:p.Arg1412Lys					GM2A_uc011dcs.1_Intron	p.R1412K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	4248	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	1412			Extracellular (Potential).|Cadherin 12.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.4235G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	7.478	0.647999	0.14516	.	.	ENSG00000086570	ENST00000261800	T	0.50001	0.76	5.43	2.62	0.31277	Cadherin (4);Cadherin-like (1);	0.210965	0.35677	N	0.003046	T	0.18173	0.0436	N	0.08118	0	0.27290	N	0.957857	B	0.09022	0.002	B	0.12156	0.007	T	0.26538	-1.0100	10	0.02654	T	1	.	3.2359	0.06765	0.0:0.4417:0.2049:0.3534	.	1412	Q9NYQ8	FAT2_HUMAN	K	1412	ENSP00000261800:R1412K	ENSP00000261800:R1412K	R	-	2	0	FAT2	150911282	0.908000	0.30866	0.546000	0.28166	0.169000	0.22640	1.725000	0.38074	0.631000	0.30412	0.561000	0.74099	AGA		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		33	64	0	0	0	0.002096	0	33	64		
CREBRF	153222	broad.mit.edu	37	5	172518250	172518250	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:172518250A>T	ENST00000296953.2	+	4	1387	c.1068A>T	c.(1066-1068)gaA>gaT	p.E356D	CREBRF_ENST00000520420.1_Missense_Mutation_p.E356D|CREBRF_ENST00000540014.1_Missense_Mutation_p.E356D|CREBRF_ENST00000522692.1_Missense_Mutation_p.E356D	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	356	Glu-rich.				negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTCCtgaagaagatgaggagg	0.448																																						uc003mch.2		NaN																	0					0						c.(1066-1068)GAA>GAT		luman-recruiting factor							63.0	49.0	54.0					5																	172518250		2203	4300	6503	SO:0001583	missense	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172518250A>T	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.1068A>T	5.37:g.172518250A>T	ENSP00000296953:p.Glu356Asp					C5orf41_uc003mcg.2_Missense_Mutation_p.E356D|C5orf41_uc003mcf.2_Missense_Mutation_p.E356D|C5orf41_uc011dfd.1_Missense_Mutation_p.E356D	p.E356D	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	1372	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	356			Glu-rich.		B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Missense_Mutation	SNP	ENST00000296953.2	37	c.1068A>T	CCDS34293.1	.	.	.	.	.	.	.	.	.	.	A	9.036	0.988434	0.18966	.	.	ENSG00000164463	ENST00000522692;ENST00000296953;ENST00000540014;ENST00000520420;ENST00000538538;ENST00000393776	T;T;T;T	0.69806	-0.43;1.91;1.91;-0.43	5.52	-1.39	0.08997	.	0.414552	0.25701	N	0.028867	T	0.33206	0.0855	N	0.08118	0	0.43953	D	0.996629	B;B	0.06786	0.0;0.001	B;B	0.08055	0.001;0.003	T	0.04041	-1.0982	10	0.13470	T	0.59	.	2.3882	0.04371	0.4075:0.1383:0.3418:0.1125	.	356;356	Q8IUR6;Q8IUR6-2	CE041_HUMAN;.	D	356	ENSP00000431107:E356D;ENSP00000296953:E356D;ENSP00000440075:E356D;ENSP00000428290:E356D	ENSP00000296953:E356D	E	+	3	2	C5orf41	172450856	0.224000	0.23674	0.983000	0.44433	0.997000	0.91878	-0.448000	0.06820	-0.555000	0.06142	0.533000	0.62120	GAA		0.448	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1		NM_153607		9	24	0	0	0	0.008291	0	9	24		
SIMC1	375484	broad.mit.edu	37	5	175717546	175717546	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:175717546G>A	ENST00000443967.1	+	4	1369	c.962G>A	c.(961-963)gGa>gAa	p.G321E	SIMC1_ENST00000430704.2_Intron|SIMC1_ENST00000429602.2_Missense_Mutation_p.G340E|SIMC1_ENST00000341199.6_Intron			Q8NDZ2	SIMC1_HUMAN	SUMO-interacting motifs containing 1	321	Pro-rich.						SUMO polymer binding (GO:0032184)										CACTTACCGGGAGATGTGTTA	0.547																																						uc003mds.3		NaN																	0					0						c.(961-963)GGA>GAA		RecName: Full=Uncharacterized protein C5orf25;							121.0	112.0	115.0					5																	175717546		2203	4297	6500	SO:0001583	missense	375484							g.chr5:175717546G>A	BC037298	CCDS4398.2	5q35.2	2013-08-14	2012-11-14	2012-11-14	ENSG00000170085	ENSG00000170085			24779	protein-coding gene	gene with protein product	"""oocyte maturation associated 1"", ""platform element for inhibition of autolytic degradation"""		"""chromosome 5 open reading frame 25"""	C5orf25		23086935, 23707407	Standard	NM_198567		Approved	FLJ44216, OOMA1, PLEIAD	uc003mds.4	Q8NDZ2	OTTHUMG00000130663	ENST00000443967.1:c.962G>A	5.37:g.175717546G>A	ENSP00000406571:p.Gly321Glu					C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.G340E|uc003mdu.1_Missense_Mutation_p.G232E	p.G321E			Q8NDZ2	CE025_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)	4	1369	+	all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	321			Pro-rich.		J3KQQ8|Q6NXN8|Q6ZTU4|Q8IZ15	Missense_Mutation	SNP	ENST00000443967.1	37	c.962G>A		.	.	.	.	.	.	.	.	.	.	G	6.400	0.441882	0.12164	.	.	ENSG00000170085	ENST00000443967;ENST00000429602;ENST00000377277	T;T	0.33654	2.17;1.4	3.04	3.04	0.35103	.	1.107710	0.06915	N	0.808401	T	0.18759	0.0450	.	.	.	0.23120	N	0.998266	P;B	0.44139	0.827;0.419	B;B	0.40864	0.342;0.144	T	0.03157	-1.1066	9	0.07325	T	0.83	1.0826	6.1631	0.20376	0.1367:0.0:0.8633:0.0	.	340;321	B4DRM7;Q8NDZ2	.;CE025_HUMAN	E	321;340;232	ENSP00000406571:G321E;ENSP00000410552:G340E	ENSP00000366489:G232E	G	+	2	0	C5orf25	175650152	0.000000	0.05858	0.417000	0.26559	0.139000	0.21198	0.217000	0.17603	1.999000	0.58509	0.603000	0.83216	GGA		0.547	SIMC1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000253155.2		NM_198567		8	183	0	0	0	0.001855	0	8	183		
OR2J3	442186	broad.mit.edu	37	6	29080151	29080151	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:29080151C>A	ENST00000377169.1	+	1	484	c.484C>A	c.(484-486)Cat>Aat	p.H162N		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	162						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						CTCAGCACTTCATTCCTCCTT	0.488																																						uc011dll.1		NaN																	0					0						c.(484-486)CAT>AAT		olfactory receptor, family 2, subfamily J,							208.0	221.0	217.0					6																	29080151		1333	2591	3924	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29080151C>A		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.484C>A	6.37:g.29080151C>A	ENSP00000366374:p.His162Asn						p.H162N	NM_001005216	NP_001005216	O76001	OR2J3_HUMAN			1	484	+			162			Extracellular (Potential).		B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.484C>A	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.382661	0.25031	.	.	ENSG00000204701	ENST00000377169	T	0.00262	8.4	2.78	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	L	0.35487	1.065	0.09310	N	1	P	0.41188	0.741	P	0.44921	0.464	T	0.12426	-1.0548	9	0.66056	D	0.02	.	13.5409	0.61672	0.0:1.0:0.0:0.0	.	162	O76001	OR2J3_HUMAN	N	162	ENSP00000366374:H162N	ENSP00000366374:H162N	H	+	1	0	OR2J3	29188130	0.000000	0.05858	0.956000	0.39512	0.439000	0.31926	-0.635000	0.05471	1.549000	0.49425	0.436000	0.28706	CAT		0.488	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2				158	143	1	0	2.40789e-81	0.00361	3.30237e-81	158	143		
RPL10A	4736	broad.mit.edu	37	6	35438423	35438423	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:35438423C>T	ENST00000322203.6	+	6	577	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	184					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						GTATAACATTCACCTGGCTGT	0.493																																						uc003okp.1		NaN																	0				ovary(1)	1						c.(550-552)CAC>TAC		ribosomal protein L10a							122.0	111.0	115.0					6																	35438423		2203	4300	6503	SO:0001583	missense	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35438423C>T	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.550C>T	6.37:g.35438423C>T	ENSP00000363018:p.His184Tyr					RPL10A_uc003okq.1_Missense_Mutation_p.H100Y|RPL10A_uc003okr.1_Missense_Mutation_p.H100Y|RPL10A_uc003oks.1_Missense_Mutation_p.H100Y	p.H184Y	NM_007104	NP_009035	P62906	RL10A_HUMAN			6	584	+			184					B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	c.550C>T	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	C	13.94	2.387661	0.42308	.	.	ENSG00000198755	ENST00000322203	T	0.42900	0.96	4.67	4.67	0.58626	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.23054	0.0557	M	0.69823	2.125	0.80722	D	1	B	0.10296	0.003	B	0.18263	0.021	T	0.34976	-0.9807	10	0.02654	T	1	.	16.1695	0.81793	0.0:1.0:0.0:0.0	.	184	P62906	RL10A_HUMAN	Y	184	ENSP00000363018:H184Y	ENSP00000363018:H184Y	H	+	1	0	RPL10A	35546401	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.718000	0.84743	2.139000	0.66308	0.561000	0.74099	CAC		0.493	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1		NM_007104		45	50	0	0	0	0.003214	0	45	50		
DNAH8	1769	broad.mit.edu	37	6	38942237	38942237	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:38942237G>C	ENST00000359357.3	+	83	12369	c.12115G>C	c.(12115-12117)Gac>Cac	p.D4039H	DNAH8_ENST00000441566.1_Missense_Mutation_p.D4003H			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4039	AAA 6. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGACCTTCTGGACATCAGTAA	0.423																																						uc003ooe.1		NaN																	0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(12115-12117)GAC>CAC		dynein, axonemal, heavy polypeptide 8							96.0	87.0	90.0					6																	38942237		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38942237G>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.12115G>C	6.37:g.38942237G>C	ENSP00000352312:p.Asp4039His					DNAH8_uc003oog.1_Missense_Mutation_p.D488H	p.D4039H	NM_001371	NP_001362					83	12715	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.12115G>C		.	.	.	.	.	.	.	.	.	.	G	24.6	4.550036	0.86127	.	.	ENSG00000124721	ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.08896	3.04;3.04;3.04	5.84	5.84	0.93424	Dynein heavy chain (1);	0.056597	0.64402	D	0.000002	T	0.32585	0.0834	H	0.94582	3.555	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.73708	0.967;0.981	T	0.40608	-0.9554	10	0.72032	D	0.01	.	15.2412	0.73471	0.0686:0.0:0.9313:0.0	.	4003;4039	Q96JB1-2;Q96JB1	.;DYH8_HUMAN	H	4244;4039;4003	ENSP00000333363:D4244H;ENSP00000352312:D4039H;ENSP00000402294:D4003H	ENSP00000333363:D4244H	D	+	1	0	DNAH8	39050215	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.693000	0.84214	2.764000	0.94973	0.655000	0.94253	GAC		0.423	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927		32	78	0	0	0	0.002445	0	32	78		
KIF6	221458	broad.mit.edu	37	6	39507798	39507798	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:39507798A>T	ENST00000287152.7	-	13	1720	c.1626T>A	c.(1624-1626)agT>agA	p.S542R	KIF6_ENST00000373213.4_Missense_Mutation_p.S381R|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373216.3_Missense_Mutation_p.S542R|KIF6_ENST00000373215.3_Missense_Mutation_p.S542R	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	542					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTGGAGCAAACTGGATCTTT	0.443																																						uc003oot.2		NaN																	0				breast(2)|central_nervous_system(1)	3						c.(1624-1626)AGT>AGA		kinesin family member 6							183.0	192.0	189.0					6																	39507798		2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39507798A>T	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1626T>A	6.37:g.39507798A>T	ENSP00000287152:p.Ser542Arg					KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.S333R|KIF6_uc011dua.1_Missense_Mutation_p.S542R|KIF6_uc010jxb.1_Intron	p.S542R	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			13	1721	-			542					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1626T>A	CCDS4844.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.670|9.670	1.146591|1.146591	0.21288|0.21288	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215|ENST00000458470	T;T;T;T|.	0.71341|.	-0.56;-0.56;-0.39;-0.54|.	6.04|6.04	0.0676|0.0676	0.14366|0.14366	.|.	.|.	.|.	.|.	.|.	T|T	0.29423|0.29423	0.0733|0.0733	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	B;B;B|.	0.31174|.	0.003;0.311;0.002|.	B;B;B|.	0.27076|.	0.007;0.076;0.003|.	T|T	0.17623|0.17623	-1.0363|-1.0363	9|5	0.16420|.	T|.	0.52|.	.|.	4.2933|4.2933	0.10888|0.10888	0.4498:0.3275:0.2226:0.0|0.4498:0.3275:0.2226:0.0	.|.	542;542;542|.	E7EUN7;Q6ZMV9-3;Q6ZMV9|.	.;.;KIF6_HUMAN|.	R|D	542;542;381;542|434	ENSP00000287152:S542R;ENSP00000362312:S542R;ENSP00000362309:S381R;ENSP00000362311:S542R|.	ENSP00000287152:S542R|.	S|V	-|-	3|2	2|0	KIF6|KIF6	39615776|39615776	0.915000|0.915000	0.31059|0.31059	0.997000|0.997000	0.53966|0.53966	0.157000|0.157000	0.22087|0.22087	0.306000|0.306000	0.19279|0.19279	0.070000|0.070000	0.16634|0.16634	-0.376000|-0.376000	0.06991|0.06991	AGT|GTT		0.443	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2		NM_145027		123	117	0	0	0	0.00361	0	123	117		
LMBRD1	55788	broad.mit.edu	37	6	70386122	70386122	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:70386122C>T	ENST00000370577.3	-	16	1780	c.1551G>A	c.(1549-1551)aaG>aaA	p.K517K	LMBRD1_ENST00000370570.1_Silent_p.K444K	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	517					cobalamin metabolic process (GO:0009235)|insulin receptor internalization (GO:0038016)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase B signaling (GO:0051898)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	clathrin-coated endocytic vesicle (GO:0045334)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						TAACCGATTTCTTCCCTTTAC	0.313																																						uc003pfa.2		NaN																	0				ovary(1)	1						c.(1549-1551)AAG>AAA		liver regeneration p-53 related protein							123.0	123.0	123.0					6																	70386122		2203	4300	6503	SO:0001819	synonymous_variant	55788				interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	g.chr6:70386122C>T	AF113224	CCDS4969.1	6q13	2011-05-12	2005-07-25	2005-07-25	ENSG00000168216	ENSG00000168216			23038	protein-coding gene	gene with protein product		612625	"""chromosome 6 open reading frame 209"""	C6orf209		19136951	Standard	NM_018368		Approved	FLJ11240, bA810I22.1, cblF	uc003pfa.3	Q9NUN5	OTTHUMG00000014985	ENST00000370577.3:c.1551G>A	6.37:g.70386122C>T						LMBRD1_uc003pey.2_Silent_p.K313K|LMBRD1_uc003pez.2_Silent_p.K444K|LMBRD1_uc010kal.2_Silent_p.K444K|LMBRD1_uc003pfb.2_RNA	p.K517K	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN			16	1666	-			517			Cytoplasmic (Potential).		A8K204|E1P531|Q5VUN6|Q86Y70|Q96FW4|Q9BY56|Q9NZD6	Silent	SNP	ENST00000370577.3	37	c.1551G>A	CCDS4969.1																																																																																				0.313	LMBRD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041124.1		NM_018368		11	31	0	0	0	0.001855	0	11	31		
OR2A4	79541	broad.mit.edu	37	6	132021851	132021851	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:132021851C>T	ENST00000315453.2	-	1	784	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron|ENPP3_ENST00000358229.5_Intron	NM_030908.1	NP_112170.1	O95047	OR2A4_HUMAN	olfactory receptor, family 2, subfamily A, member 4	231					positive regulation of cytokinesis (GO:0032467)|regulation of actin cytoskeleton organization (GO:0032956)	cleavage furrow (GO:0032154)|Flemming body (GO:0090543)|integral component of membrane (GO:0016021)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|ovary(1)|skin(1)	3	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)		CTCTGAACTTCCCTTGATTGG	0.493																																						uc011ecd.1		NaN																	0				ovary(1)|skin(1)	2						c.(691-693)GAA>AAA		olfactory receptor, family 2, subfamily A,							53.0	71.0	65.0					6																	132021851		1829	4252	6081	SO:0001583	missense	79541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:132021851C>T	AC005587	CCDS5149.1	6q23	2012-08-09	2003-05-22		ENSG00000180658	ENSG00000180658		"""GPCR / Class A : Olfactory receptors"""	14729	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 10"""	OR2A10			Standard	NM_030908		Approved		uc011ecd.2	O95047	OTTHUMG00000016316	ENST00000315453.2:c.691G>A	6.37:g.132021851C>T	ENSP00000319546:p.Glu231Lys					ENPP3_uc003qcu.3_Intron|ENPP3_uc010kfq.2_Intron|ENPP3_uc003qcv.2_Intron	p.E231K	NM_030908	NP_112170	O95047	OR2A4_HUMAN		GBM - Glioblastoma multiforme(226;0.018)|OV - Ovarian serous cystadenocarcinoma(155;0.041)	1	691	-	Breast(56;0.0753)		231			Cytoplasmic (Potential).		Q0VAR3|Q6IF18|Q9NQN0	Missense_Mutation	SNP	ENST00000315453.2	37	c.691G>A	CCDS5149.1	.	.	.	.	.	.	.	.	.	.	-	10.61	1.397914	0.25205	.	.	ENSG00000180658	ENST00000315453	T	0.00174	8.62	1.79	1.79	0.24919	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37761	U	0.001956	T	0.00073	0.0002	L	0.58583	1.82	0.09310	N	1	B	0.19073	0.033	B	0.21360	0.034	T	0.36817	-0.9732	10	0.59425	D	0.04	.	9.9688	0.41741	0.0:1.0:0.0:0.0	.	231	O95047	OR2A4_HUMAN	K	231	ENSP00000319546:E231K	ENSP00000319546:E231K	E	-	1	0	OR2A4	132063544	0.000000	0.05858	0.084000	0.20598	0.000000	0.00434	-0.001000	0.12947	1.057000	0.40506	0.000000	0.15137	GAA		0.493	OR2A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109221.1		NM_030908		35	82	0	0	0	0.002522	0	35	82		
ECT2L	345930	broad.mit.edu	37	6	139164270	139164270	+	Missense_Mutation	SNP	C	C	T	rs568016767	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:139164270C>T	ENST00000423192.1	+	5	658	c.497C>T	c.(496-498)aCg>aTg	p.T166M	ECT2L_ENST00000367682.2_Missense_Mutation_p.T166M|ECT2L_ENST00000541398.1_Missense_Mutation_p.T97M			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	166							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ACTTATGGGACGCTGAATGAA	0.458			"""N, Splice, Mis"""		ETP ALL								C|||	3	0.000599042	0.0	0.0	5008	,	,		16455	0.002		0.0	False		,,,				2504	0.001					uc003qif.1		NaN		Rec	yes		6	6q24.1	345930		epithelial cell transforming sequence 2 oncogene-like			L					0					0						c.(496-498)ACG>ATG		epithelial cell transforming sequence 2							125.0	125.0	125.0					6																	139164270		1948	4156	6104	SO:0001583	missense	345930				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:139164270C>T		CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.497C>T	6.37:g.139164270C>T	ENSP00000387388:p.Thr166Met					ECT2L_uc011edq.1_Missense_Mutation_p.T97M	p.T166M	NM_001077706	NP_001071174	Q008S8	ECT2L_HUMAN			4	600	+			166					B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	ENST00000423192.1	37	c.497C>T	CCDS43508.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.597960	0.87055	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.77098	0.05;0.05;-1.07	5.72	5.72	0.89469	.	.	.	.	.	T	0.80093	0.4560	L	0.34521	1.04	0.46954	D	0.999261	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82512	-0.0420	9	0.87932	D	0	-5.1429	16.7928	0.85593	0.0:1.0:0.0:0.0	.	97;166	F5H7S9;Q008S8	.;ECT2L_HUMAN	M	166;166;97	ENSP00000387388:T166M;ENSP00000356655:T166M;ENSP00000442307:T97M	ENSP00000356655:T166M	T	+	2	0	ECT2L	139205963	1.000000	0.71417	0.995000	0.50966	0.942000	0.58702	5.963000	0.70372	2.709000	0.92574	0.591000	0.81541	ACG		0.458	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042441.3		NM_001077706		40	52	0	0	0	0.006999	0	40	52		
CCDC170	80129	broad.mit.edu	37	6	151857488	151857488	+	Silent	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:151857488G>T	ENST00000239374.7	+	2	192	c.93G>T	c.(91-93)acG>acT	p.T31T	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000367290.5_Silent_p.T31T	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	31																	TCCCGGTCACGCGGGAGCAGT	0.428																																						uc003qol.2		NaN																	0					0						c.(91-93)ACG>ACT		hypothetical protein LOC80129							103.0	97.0	99.0					6																	151857488		1859	4092	5951	SO:0001819	synonymous_variant	80129							g.chr6:151857488G>T	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	ENST00000239374.7:c.93G>T	6.37:g.151857488G>T							p.T31T	NM_025059	NP_079335	Q8IYT3	CF097_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.111)	OV - Ovarian serous cystadenocarcinoma(155;1.48e-10)	2	182	+		Ovarian(120;0.126)	31			Potential.		Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	Silent	SNP	ENST00000239374.7	37	c.93G>T	CCDS43515.1																																																																																				0.428	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2		NM_025059		23	34	1	0	7.92952e-12	0.003954	1.01098e-11	23	34		
LPA	4018	broad.mit.edu	37	6	160953592	160953592	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr6:160953592G>C	ENST00000316300.5	-	38	5976	c.5932C>G	c.(5932-5934)Cat>Gat	p.H1978D	LPA_ENST00000447678.1_Missense_Mutation_p.H1978D			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4486	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CTGGCCAAATGCTCAGCACAA	0.458																																						uc003qtl.2		NaN																	0				ovary(3)|skin(2)|pancreas(1)	6						c.(5932-5934)CAT>GAT		lipoprotein Lp(a) precursor	Aminocaproic Acid(DB00513)																																			SO:0001583	missense	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:160953592G>C	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.5932C>G	6.37:g.160953592G>C	ENSP00000321334:p.His1978Asp						p.H1978D	NM_005577	NP_005568	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	39	6052	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	4486			Peptidase S1.		Q5VTD7|Q9UD88	Missense_Mutation	SNP	ENST00000316300.5	37	c.5932C>G	CCDS43523.1	.	.	.	.	.	.	.	.	.	.	g	0.016	-1.538499	0.00942	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.88046	-2.33;-2.33	1.93	1.0	0.19881	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.44052	0.1275	N	0.01284	-0.91	0.09310	N	0.999999	B	0.26809	0.16	B	0.37692	0.256	T	0.55842	-0.8077	9	0.09338	T	0.73	.	4.5187	0.11949	0.0:0.2128:0.356:0.4312	.	4486	P08519	APOA_HUMAN	D	1978	ENSP00000321334:H1978D;ENSP00000395608:H1978D	ENSP00000321334:H1978D	H	-	1	0	LPA	160873582	0.001000	0.12720	0.006000	0.13384	0.034000	0.12701	0.067000	0.14510	0.358000	0.24211	0.184000	0.17185	CAT		0.458	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1		NM_005577		22	43	0	0	0	0.001523	0	22	43		
TNRC18	84629	broad.mit.edu	37	7	5354756	5354756	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:5354756G>C	ENST00000430969.1	-	26	7234	c.6886C>G	c.(6886-6888)Ctg>Gtg	p.L2296V	TNRC18_ENST00000399537.4_Missense_Mutation_p.L2296V	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2296							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTGGCACCAGAAGGGCCGGG	0.667																																						uc003soi.3		NaN																	0					0						c.(6886-6888)CTG>GTG		trinucleotide repeat containing 18							25.0	26.0	26.0					7																	5354756		1568	3582	5150	SO:0001583	missense	84629						DNA binding	g.chr7:5354756G>C	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6886C>G	7.37:g.5354756G>C	ENSP00000395538:p.Leu2296Val						p.L2296V	NM_001080495	NP_001073964	O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	26	7235	-		Ovarian(82;0.142)	2296					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.6886C>G	CCDS47534.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.39|14.39	2.522428|2.522428	0.44866|0.44866	.|.	.|.	ENSG00000182095|ENSG00000182095	ENST00000399537;ENST00000430969|ENST00000328270	T;T|.	0.17213|.	2.29;2.29|.	4.98|4.98	4.1|4.1	0.47936|0.47936	.|.	0.000000|.	0.28921|.	N|.	0.013707|.	T|T	0.51227|0.51227	0.1662|0.1662	L|L	0.61218|0.61218	1.895|1.895	0.31059|0.31059	N|N	0.714368|0.714368	D|.	0.76494|.	0.999|.	D|.	0.78314|.	0.991|.	T|T	0.55730|0.55730	-0.8095|-0.8095	10|5	0.26408|.	T|.	0.33|.	.|.	8.3105|8.3105	0.32068|0.32068	0.3021:0.0:0.6979:0.0|0.3021:0.0:0.6979:0.0	.|.	2296|.	O15417|.	TNC18_HUMAN|.	V|C	2296|109	ENSP00000382452:L2296V;ENSP00000395538:L2296V|.	ENSP00000382452:L2296V|.	L|S	-|-	1|2	2|0	TNRC18|TNRC18	5321282|5321282	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.400000|0.400000	0.30750|0.30750	1.639000|1.639000	0.37176|0.37176	1.068000|1.068000	0.40764|0.40764	-0.258000|-0.258000	0.10820|0.10820	CTG|TCT		0.667	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding					8	19	0	0	0	0.006214	0	8	19		
ARL4A	10124	broad.mit.edu	37	7	12728009	12728009	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:12728009G>C	ENST00000396663.1	+	2	612	c.130G>C	c.(130-132)Gaa>Caa	p.E44Q	ARL4A_ENST00000396664.2_Missense_Mutation_p.E44Q|ARL4A_ENST00000356797.3_Missense_Mutation_p.E44Q|ARL4A_ENST00000396662.1_Missense_Mutation_p.E44Q|ARL4A_ENST00000404894.1_Missense_Mutation_p.E44Q	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	44					brown fat cell differentiation (GO:0050873)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GCAGTTCAATGAATTTGTAAA	0.393																																						uc003ssp.2		NaN																	0					0						c.(130-132)GAA>CAA		ADP-ribosylation factor-like 4A							29.0	29.0	29.0					7																	12728009		2203	4293	6496	SO:0001583	missense	10124				small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding	g.chr7:12728009G>C	U73960	CCDS5359.1	7p21.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000122644	ENSG00000122644		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	695	protein-coding gene	gene with protein product		604786	"""ADP-ribosylation factor-like 4"""	ARL4			Standard	NM_212460		Approved		uc003ssq.3	P40617	OTTHUMG00000023374	ENST00000396663.1:c.130G>C	7.37:g.12728009G>C	ENSP00000379898:p.Glu44Gln					ARL4A_uc003ssq.2_Missense_Mutation_p.E44Q|ARL4A_uc003ssr.2_Missense_Mutation_p.E44Q|ARL4A_uc003sss.2_Missense_Mutation_p.E44Q	p.E44Q	NM_001037164	NP_001032241	P40617	ARL4A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.176)	2	407	+			44					A4D119|P80418|Q49AF5	Missense_Mutation	SNP	ENST00000396663.1	37	c.130G>C	CCDS5359.1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233934	0.58886	.	.	ENSG00000122644	ENST00000396662;ENST00000356797;ENST00000396664;ENST00000439721;ENST00000396663;ENST00000404894	T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	4.51	4.51	0.55191	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.76449	0.3989	L	0.57130	1.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78130	-0.2324	10	0.56958	D	0.05	.	17.8271	0.88668	0.0:0.0:1.0:0.0	.	44	P40617	ARL4A_HUMAN	Q	44	ENSP00000379897:E44Q;ENSP00000349250:E44Q;ENSP00000379899:E44Q;ENSP00000397651:E44Q;ENSP00000379898:E44Q;ENSP00000385236:E44Q	ENSP00000349250:E44Q	E	+	1	0	ARL4A	12694534	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.499000	0.97975	2.528000	0.85240	0.549000	0.68633	GAA		0.393	ARL4A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326036.1		NM_005738		16	51	0	0	0	0.008871	0	16	51		
FERD3L	222894	broad.mit.edu	37	7	19184952	19184952	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:19184952T>C	ENST00000275461.3	-	1	92	c.34A>G	c.(34-36)Acg>Gcg	p.T12A	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	12					cell development (GO:0048468)|floor plate development (GO:0033504)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurogenesis (GO:0050767)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TCCAGCACCGTAGTGTCCACG	0.672																																						uc003suo.1		NaN																	0				large_intestine(1)	1						c.(34-36)ACG>GCG		nephew of atonal 3							32.0	31.0	31.0					7																	19184952		2203	4299	6502	SO:0001583	missense	222894				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr7:19184952T>C	AF369897	CCDS5368.1	7p21.3	2013-10-17	2013-10-17		ENSG00000146618	ENSG00000146618		"""Basic helix-loop-helix proteins"""	16660	protein-coding gene	gene with protein product			"""Fer3-like (Drosophila)"""			11472856, 12217327	Standard	NM_152898		Approved	NATO3, N-TWIST, bHLHa31	uc003suo.1	Q96RJ6	OTTHUMG00000090823	ENST00000275461.3:c.34A>G	7.37:g.19184952T>C	ENSP00000275461:p.Thr12Ala					uc003sun.1_RNA	p.T12A	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN			1	93	-			12					Q495K0	Missense_Mutation	SNP	ENST00000275461.3	37	c.34A>G	CCDS5368.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413064	0.42817	.	.	ENSG00000146618	ENST00000275461	D	0.96300	-3.97	5.66	1.86	0.25419	.	0.564838	0.18225	N	0.147758	D	0.88183	0.6368	N	0.14661	0.345	0.26814	N	0.968934	B	0.02656	0.0	B	0.04013	0.001	T	0.76517	-0.2930	10	0.20519	T	0.43	-1.0349	3.2765	0.06901	0.2947:0.2492:0.0:0.4561	.	12	Q96RJ6	FER3L_HUMAN	A	12	ENSP00000275461:T12A	ENSP00000275461:T12A	T	-	1	0	FERD3L	19151477	0.696000	0.27757	0.980000	0.43619	0.793000	0.44817	-0.146000	0.10250	0.399000	0.25367	0.528000	0.53228	ACG		0.672	FERD3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207627.1				13	33	0	0	0	0.00245	0	13	33		
GPNMB	10457	broad.mit.edu	37	7	23296615	23296615	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:23296615G>A	ENST00000381990.2	+	4	633	c.472G>A	c.(472-474)Gat>Aat	p.D158N	GPNMB_ENST00000453162.2_Intron|GPNMB_ENST00000539136.1_Missense_Mutation_p.D59N|GPNMB_ENST00000258733.4_Missense_Mutation_p.D158N|GPNMB_ENST00000409458.3_Missense_Mutation_p.D158N	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	158					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.D158H(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGTCTTCCCTGATGGGAAACC	0.483																																						uc003swc.2		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)	5						c.(472-474)GAT>AAT		glycoprotein (transmembrane) nmb isoform a							130.0	113.0	118.0					7																	23296615		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23296615G>A	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.472G>A	7.37:g.23296615G>A	ENSP00000371420:p.Asp158Asn					GPNMB_uc003swa.2_Missense_Mutation_p.D158N|GPNMB_uc003swb.2_Missense_Mutation_p.D158N|GPNMB_uc011jyy.1_Intron|GPNMB_uc011jyz.1_Missense_Mutation_p.D59N	p.D158N	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		4	633	+			158			Extracellular (Potential).		A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.472G>A	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332118	0.95733	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000409458;ENST00000539136	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.54647	0.1871	M	0.86651	2.83	0.80722	D	1	B;D;D;D	0.89917	0.06;0.999;1.0;1.0	B;D;D;D	0.97110	0.03;0.928;1.0;0.982	T	0.62253	-0.6893	10	0.72032	D	0.01	-14.2516	19.1545	0.93504	0.0:0.0:1.0:0.0	.	59;158;158;158	F6SKP1;Q14956;Q14956-2;Q96F58	.;GPNMB_HUMAN;.;.	N	158;193;158;158;59	ENSP00000258733:D158N;ENSP00000371420:D158N;ENSP00000386476:D158N;ENSP00000445266:D59N	ENSP00000258733:D158N	D	+	1	0	GPNMB	23263140	1.000000	0.71417	0.099000	0.21106	0.072000	0.16883	8.443000	0.90320	2.592000	0.87571	0.655000	0.94253	GAT		0.483	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1		NM_001005340		33	123	0	0	0	0.002836	0	33	123		
GPNMB	10457	broad.mit.edu	37	7	23313138	23313138	+	Splice_Site	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:23313138A>G	ENST00000381990.2	+	10	1626		c.e10-1		GPNMB_ENST00000453162.2_Splice_Site|GPNMB_ENST00000478451.1_Splice_Site|GPNMB_ENST00000539136.1_Splice_Site|GPNMB_ENST00000258733.4_Splice_Site	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb						bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TTCTGTTTTAAGACCCAGCCT	0.463											OREG0017893	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003swc.2		NaN																	0				ovary(3)|breast(2)	5						c.e10-2		glycoprotein (transmembrane) nmb isoform a							184.0	142.0	156.0					7																	23313138		2203	4300	6503	SO:0001630	splice_region_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23313138A>G	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1466-1A>G	7.37:g.23313138A>G			OREG0017893	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	762	GPNMB_uc003swb.2_Splice_Site_p.D477_splice|GPNMB_uc011jyy.1_Splice_Site_p.D431_splice|GPNMB_uc011jyz.1_Splice_Site_p.D378_splice	p.D489_splice	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		10	1627	+								A4D155|Q6UVX1|Q8N1A1	Splice_Site	SNP	ENST00000381990.2	37	c.1466_splice	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	A	14.07	2.427117	0.43122	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	.	.	.	5.72	4.52	0.55395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4651	0.50235	0.8501:0.1499:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GPNMB	23279663	0.978000	0.34361	0.899000	0.35326	0.675000	0.39556	2.118000	0.41949	2.189000	0.69895	0.533000	0.62120	.		0.463	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1		NM_001005340	Intron	41	86	0	0	0	0.002222	0	41	86		
TRA2A	29896	broad.mit.edu	37	7	23547040	23547040	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:23547040G>A	ENST00000297071.4	-	5	856	c.640C>T	c.(640-642)Cat>Tat	p.H214Y	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_Splice_Site_p.H113Y|TRA2A_ENST00000392502.4_Splice_Site_p.H113Y	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	214	Linker.				mRNA splicing, via spliceosome (GO:0000398)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						AACTCTTACTGAGTTGGTCTG	0.378																																					Pancreas(121;2137 2973 46590)	uc003swi.2		NaN																	0				ovary(1)	1						c.(640-642)CAT>TAT		transformer-2 alpha							200.0	191.0	194.0					7																	23547040		2203	4300	6503	SO:0001630	splice_region_variant	29896				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding	g.chr7:23547040G>A	U53209	CCDS5383.1, CCDS64609.1, CCDS75569.1	7p15.3	2014-02-12			ENSG00000164548	ENSG00000164548		"""RNA binding motif (RRM) containing"""	16645	protein-coding gene	gene with protein product		602718				8799144, 9546399	Standard	XM_005249725		Approved	htra-2-alpha, tra2a, AWMS1	uc003swi.3	Q13595	OTTHUMG00000128459	ENST00000297071.4:c.641+1C>T	7.37:g.23547040G>A						TRA2A_uc011jzb.1_RNA|TRA2A_uc011jzc.1_Missense_Mutation_p.H113Y|TRA2A_uc011jzd.1_Missense_Mutation_p.H113Y	p.H214Y	NM_013293	NP_037425	Q13595	TRA2A_HUMAN			5	854	-			214			Linker.		B4DUA9	Missense_Mutation	SNP	ENST00000297071.4	37	c.640C>T	CCDS5383.1	.	.	.	.	.	.	.	.	.	.	G	9.055	0.993000	0.19043	.	.	ENSG00000164548	ENST00000297071;ENST00000392502;ENST00000538367	T;T;T	0.73897	-0.79;-0.79;-0.79	5.52	5.52	0.82312	.	0.099482	0.64402	D	0.000002	T	0.50257	0.1605	N	0.02181	-0.65	0.80722	D	1	B	0.15473	0.013	B	0.11329	0.006	T	0.52902	-0.8513	10	0.09338	T	0.73	-11.4815	19.5178	0.95171	0.0:0.0:1.0:0.0	.	214	Q13595	TRA2A_HUMAN	Y	214;113;113	ENSP00000297071:H214Y;ENSP00000376290:H113Y;ENSP00000441116:H113Y	ENSP00000297071:H214Y	H	-	1	0	TRA2A	23513565	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.448000	0.66612	2.615000	0.88500	0.650000	0.86243	CAT		0.378	TRA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250257.1		NM_013293	Missense_Mutation	68	169	0	0	0	0.00361	0	68	169		
HOXA11	3207	broad.mit.edu	37	7	27222475	27222475	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:27222475C>T	ENST00000006015.3	-	2	953	c.882G>A	c.(880-882)atG>atA	p.M294I	HOXA11-AS_ENST00000522863.1_RNA|HOXA10_ENST00000396344.4_5'Flank|HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	294					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TTTTTTCCTTCATTCTCCTGT	0.458			T	NUP98	CML																																	uc003syx.2		NaN		Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				lung(1)|breast(1)	2						c.(880-882)ATG>ATA		homeobox A11							81.0	84.0	83.0					7																	27222475		2203	4300	6503	SO:0001583	missense	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222475C>T		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.882G>A	7.37:g.27222475C>T	ENSP00000006015:p.Met294Ile					HOXA10_uc003syw.3_5'Flank|HOXA11_uc003syy.2_RNA|HOXA11AS_uc003syz.1_5'Flank	p.M294I	NM_005523	NP_005514	P31270	HXA11_HUMAN			2	954	-			294			Homeobox.		A4D190	Missense_Mutation	SNP	ENST00000006015.3	37	c.882G>A	CCDS5411.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889551	0.91889	.	.	ENSG00000005073	ENST00000006015	D	0.96136	-3.92	5.69	5.69	0.88448	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.97551	0.9198	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	D	0.97915	1.0311	10	0.87932	D	0	.	19.819	0.96583	0.0:1.0:0.0:0.0	.	294	P31270	HXA11_HUMAN	I	294	ENSP00000006015:M294I	ENSP00000006015:M294I	M	-	3	0	HOXA11	27189000	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.691000	0.91804	0.655000	0.94253	ATG		0.458	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1				32	90	0	0	0	0.002836	0	32	90		
MTURN	222166	broad.mit.edu	37	7	30197062	30197062	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:30197062G>A	ENST00000324453.8	+	3	621	c.294G>A	c.(292-294)ggG>ggA	p.G98G	C7orf41_ENST00000455738.1_Silent_p.G65G|AC007036.5_ENST00000511893.1_RNA|C7orf41_ENST00000409688.1_Silent_p.G57G|C7orf41_ENST00000415604.1_Silent_p.G98G|C7orf41_ENST00000324489.5_Silent_p.G65G	NM_152793.2	NP_690006.2	Q8N3F0	MTURN_HUMAN		98					multicellular organismal development (GO:0007275)					NS(1)|large_intestine(2)	3						AGTTACTGGGGCTTCCGGATG	0.552																																						uc011kab.1		NaN																	0					0						c.(292-294)GGG>GGA		hypothetical protein LOC222166							148.0	157.0	154.0					7																	30197062		2203	4300	6503	SO:0001819	synonymous_variant	222166							g.chr7:30197062G>A																												ENST00000324453.8:c.294G>A	7.37:g.30197062G>A						C7orf41_uc010kvr.1_RNA|C7orf41_uc003tar.1_Silent_p.G98G	p.G98G	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN			3	495	+			98					B8ZZW9|Q8N791|Q8N8M4|Q8NEX2	Silent	SNP	ENST00000324453.8	37	c.294G>A	CCDS5425.2																																																																																				0.552	C7orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250409.1				70	216	0	0	0	0.00361	0	70	216		
ELMO1	9844	broad.mit.edu	37	7	37272761	37272761	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:37272761A>T	ENST00000310758.4	-	8	1135	c.488T>A	c.(487-489)gTt>gAt	p.V163D	ELMO1_ENST00000448602.1_Missense_Mutation_p.V163D|ELMO1_ENST00000442504.1_Missense_Mutation_p.V163D	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	163					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CATCAGCTCAACGAAGGCCGT	0.498																																						uc003tfk.1		NaN																	0				ovary(3)|skin(2)|upper_aerodigestive_tract(1)	6						c.(487-489)GTT>GAT		engulfment and cell motility 1 isoform 1							105.0	87.0	93.0					7																	37272761		2203	4300	6503	SO:0001583	missense	9844				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37272761A>T	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.488T>A	7.37:g.37272761A>T	ENSP00000312185:p.Val163Asp					ELMO1_uc011kbc.1_Missense_Mutation_p.V67D|ELMO1_uc010kxg.1_Missense_Mutation_p.V163D	p.V163D	NM_014800	NP_055615	Q92556	ELMO1_HUMAN			8	795	-			163					A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.488T>A	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	A	31	5.093344	0.94149	.	.	ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602;ENST00000455119	T;T;T;T	0.34275	2.42;2.42;2.42;1.37	5.32	5.32	0.75619	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.53948	0.1828	L	0.54323	1.7	0.80722	D	1	D	0.71674	0.998	D	0.74023	0.982	T	0.46527	-0.9185	10	0.29301	T	0.29	.	15.9969	0.80256	1.0:0.0:0.0:0.0	.	163	Q92556	ELMO1_HUMAN	D	163;67;163;163;151	ENSP00000312185:V163D;ENSP00000406952:V163D;ENSP00000394458:V163D;ENSP00000406610:V151D	ENSP00000312185:V163D	V	-	2	0	ELMO1	37239286	1.000000	0.71417	0.949000	0.38748	0.974000	0.67602	9.251000	0.95483	2.320000	0.78422	0.528000	0.53228	GTT		0.498	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4		NM_130442		22	46	0	0	0	0.00333	0	22	46		
PSMA2	5683	broad.mit.edu	37	7	42964312	42964312	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:42964312C>T	ENST00000223321.4	-	4	400	c.336G>A	c.(334-336)caG>caA	p.Q112Q	PSMA2_ENST00000442788.1_Silent_p.Q112Q|PSMA2_ENST00000445517.1_Silent_p.Q42Q|PSMA2_ENST00000538645.1_Silent_p.Q34Q	NM_002787.4	NP_002778.1	P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	112					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to virus (GO:0009615)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						AAGCTACTCTCTGTACCAGCT	0.393																																						uc003thy.2		NaN																	0				large_intestine(2)|ovary(1)	3						c.(334-336)CAG>CAA		proteasome subunit alpha type 2							138.0	126.0	130.0					7																	42964312		2203	4300	6503	SO:0001819	synonymous_variant	5683				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity	g.chr7:42964312C>T	D00760	CCDS5467.1	7p13	2005-10-11			ENSG00000106588	ENSG00000106588		"""Proteasome (prosome, macropain) subunits"""	9531	protein-coding gene	gene with protein product		176842				2025653, 1888762	Standard	NM_002787		Approved	MU, HC3, PMSA2	uc003thy.3	P25787	OTTHUMG00000023916	ENST00000223321.4:c.336G>A	7.37:g.42964312C>T						C7orf25_uc010kxr.2_5'UTR|PSMA2_uc010kxt.2_Silent_p.Q34Q|PSMA2_uc003thz.1_Silent_p.Q34Q	p.Q112Q	NM_002787	NP_002778	P25787	PSA2_HUMAN			4	384	-			112					Q6ICS6|Q9BU45	Silent	SNP	ENST00000223321.4	37	c.336G>A	CCDS5467.1																																																																																				0.393	PSMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250816.1		NM_002787		39	95	0	0	0	0.00623	0	39	95		
WBSCR22	114049	broad.mit.edu	37	7	73112020	73112020	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:73112020G>A	ENST00000265758.2	+	11	845	c.787G>A	c.(787-789)Ggc>Agc	p.G263S	STX1A_ENST00000484736.1_5'Flank|WBSCR22_ENST00000423166.2_3'UTR|WBSCR22_ENST00000423497.1_Missense_Mutation_p.G280S	NM_017528.4	NP_059998.2	O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	263					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				CAGGCGCCAGGGCAGGTGAGT	0.607																																						uc003tyt.2		NaN																	0					0						c.(787-789)GGC>AGC		Williams Beuren syndrome chromosome region 22							30.0	32.0	32.0					7																	73112020		2203	4300	6503	SO:0001583	missense	114049					nucleus	methyltransferase activity	g.chr7:73112020G>A	AF420248	CCDS5557.1, CCDS56490.1	7q11.23	2012-06-12			ENSG00000071462	ENSG00000071462			16405	protein-coding gene	gene with protein product	"""metastasis-related methyltransferase 1"""	615733				12073013, 11978965, 21148752	Standard	NM_001202560		Approved	MGC19709, MGC2022, MGC5140, PP3381, WBMT, MERM1	uc003tyt.3	O43709	OTTHUMG00000023306	ENST00000265758.2:c.787G>A	7.37:g.73112020G>A	ENSP00000265758:p.Gly263Ser					WBSCR22_uc003tyu.2_Missense_Mutation_p.G280S|WBSCR22_uc003tyv.2_Missense_Mutation_p.G225S|WBSCR22_uc003tyw.1_Missense_Mutation_p.G126S	p.G263S	NM_017528	NP_059998	O43709	WBS22_HUMAN			11	845	+		Lung NSC(55;0.0908)|all_lung(88;0.198)	263					A8K501|C9K060|Q96P12|Q9BQ58|Q9HBP9	Missense_Mutation	SNP	ENST00000265758.2	37	c.787G>A	CCDS5557.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.253891|5.253891	0.95336|0.95336	.|.	.|.	ENSG00000071462|ENSG00000071462	ENST00000453316|ENST00000265758;ENST00000423497	.|T;T	.|0.62232	.|0.04;0.05	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.83792|0.83792	0.5331|0.5331	M|M	0.92412|0.92412	3.305|3.305	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.998;0.999;0.998	D|D	0.87080|0.87080	0.2165|0.2165	6|10	.|0.87932	.|D	.|0	-9.5424|-9.5424	15.6279|15.6279	0.76878|0.76878	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|263;280;263	.|A8K501;C9K060;O43709	.|.;.;WBS22_HUMAN	E|S	46|263;280	.|ENSP00000265758:G263S;ENSP00000401191:G280S	.|ENSP00000265758:G263S	G|G	+|+	2|1	0|0	WBSCR22|WBSCR22	72749956|72749956	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.762000|0.762000	0.43233|0.43233	7.810000|7.810000	0.86072|0.86072	2.768000|2.768000	0.95171|0.95171	0.561000|0.561000	0.74099|0.74099	GGG|GGC		0.607	WBSCR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252303.1				16	39	0	0	0	0.003163	0	16	39		
CLDN12	9069	broad.mit.edu	37	7	90042400	90042400	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:90042400G>A	ENST00000287916.4	+	3	697	c.410G>A	c.(409-411)gGg>gAg	p.G137E	CLDN12_ENST00000535571.1_Missense_Mutation_p.G137E|CLDN12_ENST00000394605.2_Missense_Mutation_p.G137E|CTB-13L3.1_ENST00000480135.1_RNA	NM_001185073.2|NM_012129.4	NP_001172002.1|NP_036261.1	P56749	CLD12_HUMAN	claudin 12	137					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			breast(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)	15						CTGGTGGCTGGGCTGCTATTT	0.498																																						uc003ukp.2		NaN																	0					0						c.(409-411)GGG>GAG		claudin 12							144.0	133.0	136.0					7																	90042400		2203	4300	6503	SO:0001583	missense	9069				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:90042400G>A	AJ250713	CCDS5618.1	7q21	2008-07-18			ENSG00000157224	ENSG00000157224		"""Claudins"""	2034	protein-coding gene	gene with protein product		611232					Standard	NM_001185072		Approved		uc003ukr.3	P56749	OTTHUMG00000156612	ENST00000287916.4:c.410G>A	7.37:g.90042400G>A	ENSP00000287916:p.Gly137Glu					CLDN12_uc003ukq.2_Missense_Mutation_p.G137E|CLDN12_uc010leq.2_Missense_Mutation_p.G137E|CLDN12_uc003ukr.2_Missense_Mutation_p.G137E|CLDN12_uc003uks.2_Missense_Mutation_p.G137E	p.G137E	NM_012129	NP_036261	P56749	CLD12_HUMAN			5	1046	+			137			Helical; (Potential).		D6W5Q4|Q7LDZ0	Missense_Mutation	SNP	ENST00000287916.4	37	c.410G>A	CCDS5618.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679335	0.68042	.	.	ENSG00000157224	ENST00000422604;ENST00000416322;ENST00000496677;ENST00000287916;ENST00000535571;ENST00000394604;ENST00000394605	D;D;D;D;D;D	0.88124	-1.69;-2.34;-2.34;-2.34;-1.9;-2.34	5.36	4.48	0.54585	.	0.000000	0.85682	D	0.000000	D	0.85539	0.5720	L	0.34521	1.04	0.80722	D	1	D	0.54047	0.964	P	0.50405	0.64	D	0.87302	0.2306	10	0.87932	D	0	-8.6974	14.0836	0.64942	0.072:0.0:0.928:0.0	.	137	P56749	CLD12_HUMAN	E	137	ENSP00000411399:G137E;ENSP00000419053:G137E;ENSP00000287916:G137E;ENSP00000443476:G137E;ENSP00000378102:G137E;ENSP00000378103:G137E	ENSP00000287916:G137E	G	+	2	0	CLDN12	89880336	1.000000	0.71417	0.975000	0.42487	0.981000	0.71138	7.285000	0.78660	1.504000	0.48704	0.591000	0.81541	GGG		0.498	CLDN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059221.1		NM_012129		38	129	0	0	0	0.004878	0	38	129		
FZD1	8321	broad.mit.edu	37	7	90895380	90895380	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:90895380G>A	ENST00000287934.2	+	1	1598	c.1185G>A	c.(1183-1185)caG>caA	p.Q395Q		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	395					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGTGGCGCAGGGCACCAAGA	0.612																																						uc003ula.2		NaN																	0					0						c.(1183-1185)CAG>CAA		frizzled 1 precursor							105.0	98.0	101.0					7																	90895380		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895380G>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1185G>A	7.37:g.90895380G>A							p.Q395Q	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	1598	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		395			Extracellular (Potential).		A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.1185G>A	CCDS5620.1																																																																																				0.612	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2		NM_003505		33	91	0	0	0	0.002096	0	33	91		
AKAP9	10142	broad.mit.edu	37	7	91694694	91694694	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:91694694G>C	ENST00000359028.2	+	26	6388	c.6163G>C	c.(6163-6165)Gaa>Caa	p.E2055Q	AKAP9_ENST00000358100.2_Missense_Mutation_p.E2055Q|AKAP9_ENST00000356239.3_Missense_Mutation_p.E2043Q|AKAP9_ENST00000491695.1_3'UTR			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2055	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGGAACAAGAAAAAAATAC	0.323			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(6127-6129)GAA>CAA		A-kinase anchor protein 9 isoform 2							66.0	66.0	66.0					7																	91694694		2203	4297	6500	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91694694G>C	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6163G>C	7.37:g.91694694G>C	ENSP00000351922:p.Glu2055Gln					AKAP9_uc003ulf.2_Missense_Mutation_p.E2043Q|AKAP9_uc003uli.2_Missense_Mutation_p.E1666Q	p.E2043Q	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		25	6352	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2055			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.6127G>C		.	.	.	.	.	.	.	.	.	.	G	19.57	3.852667	0.71719	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000265737	T;T;T	0.03413	3.94;3.94;3.94	5.72	5.72	0.89469	.	0.000000	0.42294	D	0.000733	T	0.14960	0.0361	L	0.49640	1.575	0.45777	D	0.998667	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.80764	0.972;0.994;0.988	T	0.01074	-1.1460	10	0.31617	T	0.26	.	20.2406	0.98372	0.0:0.0:1.0:0.0	.	2055;2043;2043	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	Q	2043;2055;2055;2055;258	ENSP00000348573:E2043Q;ENSP00000351922:E2055Q;ENSP00000350813:E2055Q	ENSP00000265737:E258Q	E	+	1	0	AKAP9	91532630	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.671000	0.61590	2.857000	0.98124	0.650000	0.86243	GAA		0.323	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751		14	51	0	0	0	0.00245	0	14	51		
AKAP9	10142	broad.mit.edu	37	7	91695741	91695741	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:91695741G>A	ENST00000359028.2	+	27	6472	c.6247G>A	c.(6247-6249)Gag>Aag	p.E2083K	AKAP9_ENST00000358100.2_Splice_Site_p.E2083K|AKAP9_ENST00000356239.3_Splice_Site_p.E2071K			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2083	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAAACTTTAGGAGCAAGCCAT	0.348			T	BRAF	papillary thyroid																																	uc003ulg.2		NaN		Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26						c.(6211-6213)GAG>AAG		A-kinase anchor protein 9 isoform 2							66.0	64.0	65.0					7																	91695741		2203	4300	6503	SO:0001630	splice_region_variant	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91695741G>A	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.6247-1G>A	7.37:g.91695741G>A						AKAP9_uc003ulf.2_Missense_Mutation_p.E2071K|AKAP9_uc003uli.2_Missense_Mutation_p.E1694K	p.E2071K	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		26	6436	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		2083			Potential.|Glu-rich.		A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.6211G>A		.	.	.	.	.	.	.	.	.	.	G	20.4	3.986884	0.74589	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.06294	3.34;3.35;3.32	5.28	5.28	0.74379	.	0.000000	0.38492	N	0.001662	T	0.26085	0.0636	M	0.71036	2.16	0.80722	D	1	D;D;D	0.89917	0.991;0.998;1.0	P;D;D	0.87578	0.901;0.994;0.998	T	0.00241	-1.1886	9	.	.	.	.	19.2532	0.93933	0.0:0.0:1.0:0.0	.	2083;2071;2071	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	K	2071;2083;2083;2083	ENSP00000348573:E2071K;ENSP00000351922:E2083K;ENSP00000350813:E2083K	.	E	+	1	0	AKAP9	91533677	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	8.731000	0.91529	2.619000	0.88677	0.585000	0.79938	GAG		0.348	AKAP9-202	KNOWN	basic	protein_coding	protein_coding			NM_005751	Missense_Mutation	19	61	0	0	0	0.006122	0	19	61		
ANKIB1	54467	broad.mit.edu	37	7	91981884	91981884	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:91981884G>T	ENST00000265742.3	+	9	1701	c.1325G>T	c.(1324-1326)gGa>gTa	p.G442V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	442							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AATACATCTGGATCTGATACA	0.443																																						uc003ulw.2		NaN																	0				lung(1)	1						c.(1324-1326)GGA>GTA		ankyrin repeat and IBR domain containing 1							251.0	237.0	241.0					7																	91981884		1918	4139	6057	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:91981884G>T	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.1325G>T	7.37:g.91981884G>T	ENSP00000265742:p.Gly442Val						p.G442V	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		9	1701	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		442			IBR-type; degenerate.		Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.1325G>T	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138147	0.56936	.	.	ENSG00000001629	ENST00000265742	T	0.11169	2.8	4.79	4.79	0.61399	Zinc finger, C6HC-type (2);	0.210998	0.42172	D	0.000745	T	0.12475	0.0303	L	0.38175	1.15	0.58432	D	0.999999	P	0.36027	0.533	B	0.37451	0.25	T	0.07616	-1.0763	10	0.42905	T	0.14	.	18.1872	0.89796	0.0:0.0:1.0:0.0	.	442	Q9P2G1	AKIB1_HUMAN	V	442	ENSP00000265742:G442V	ENSP00000265742:G442V	G	+	2	0	ANKIB1	91819820	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.373000	0.59537	2.383000	0.81215	0.462000	0.41574	GGA		0.443	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1				88	229	1	0	3.1376e-36	0.00361	4.24339e-36	88	229		
ANKIB1	54467	broad.mit.edu	37	7	92027739	92027739	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:92027739T>G	ENST00000265742.3	+	20	3122	c.2746T>G	c.(2746-2748)Ttg>Gtg	p.L916V		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	916							zinc ion binding (GO:0008270)			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCTGAGCTTTTGGAACTTGG	0.507																																						uc003ulw.2		NaN																	0				lung(1)	1						c.(2746-2748)TTG>GTG		ankyrin repeat and IBR domain containing 1							71.0	68.0	69.0					7																	92027739		1917	4139	6056	SO:0001583	missense	54467						protein binding|zinc ion binding	g.chr7:92027739T>G	AB037807	CCDS47639.1	7q21.3	2013-01-10			ENSG00000001629	ENSG00000001629		"""Ankyrin repeat domain containing"""	22215	protein-coding gene	gene with protein product							Standard	NM_019004		Approved	DKFZP434A0225, KIAA1386	uc003ulw.2	Q9P2G1	OTTHUMG00000155859	ENST00000265742.3:c.2746T>G	7.37:g.92027739T>G	ENSP00000265742:p.Leu916Val					ANKIB1_uc010lew.1_Missense_Mutation_p.L185V	p.L916V	NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		20	3122	+	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		916					Q6GMS4|Q6P3S9|Q9NTD7|Q9NW49	Missense_Mutation	SNP	ENST00000265742.3	37	c.2746T>G	CCDS47639.1	.	.	.	.	.	.	.	.	.	.	T	17.13	3.311580	0.60414	.	.	ENSG00000001629	ENST00000265742	T	0.22945	1.93	5.61	-1.23	0.09465	.	0.147958	0.46758	D	0.000264	T	0.31544	0.0800	L	0.34521	1.04	0.31475	N	0.667921	D;D	0.71674	0.998;0.997	P;D	0.78314	0.846;0.991	T	0.29397	-1.0013	10	0.87932	D	0	.	7.4424	0.27192	0.0:0.3091:0.1084:0.5825	.	268;916	Q4VBX8;Q9P2G1	.;AKIB1_HUMAN	V	916	ENSP00000265742:L916V	ENSP00000265742:L916V	L	+	1	2	ANKIB1	91865675	0.990000	0.36364	0.166000	0.22797	0.988000	0.76386	0.992000	0.29667	-0.119000	0.11830	0.533000	0.62120	TTG		0.507	ANKIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342018.1				16	23	0	0	0	0.003163	0	16	23		
PEX1	5189	broad.mit.edu	37	7	92143223	92143223	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:92143223G>A	ENST00000248633.4	-	6	1393	c.1298C>T	c.(1297-1299)aCt>aTt	p.T433I	PEX1_ENST00000438045.1_Missense_Mutation_p.T111I|PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Missense_Mutation_p.T433I	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	433					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTCCACTGGAGTTATCCTGAC	0.303																																						uc003uly.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1297-1299)ACT>ATT		peroxin1							108.0	113.0	111.0					7																	92143223		2203	4298	6501	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92143223G>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1298C>T	7.37:g.92143223G>A	ENSP00000248633:p.Thr433Ile					PEX1_uc011khr.1_Missense_Mutation_p.T225I|PEX1_uc010ley.2_Missense_Mutation_p.T433I|PEX1_uc011khs.1_Missense_Mutation_p.T111I|PEX1_uc011kht.1_RNA	p.T433I	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		6	1394	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	433					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1298C>T	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457417	0.63401	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.94576	-3.38;-3.41;-3.46	5.84	4.91	0.64330	.	0.235343	0.41823	D	0.000801	D	0.91119	0.7204	L	0.44542	1.39	0.80722	D	1	P;P;P	0.45283	0.855;0.855;0.855	B;B;B	0.41571	0.271;0.36;0.36	D	0.90895	0.4764	10	0.62326	D	0.03	-22.5045	10.5809	0.45255	0.0:0.1152:0.6573:0.2276	.	111;225;433	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	I	111;433;433;433	ENSP00000410438:T111I;ENSP00000248633:T433I;ENSP00000394413:T433I	ENSP00000248633:T433I	T	-	2	0	PEX1	91981159	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.646000	0.37249	2.769000	0.95229	0.561000	0.74099	ACT		0.303	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3		NM_000466		52	122	0	0	0	0.00361	0	52	122		
MUC17	140453	broad.mit.edu	37	7	100678716	100678716	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:100678716C>G	ENST00000306151.4	+	3	4083	c.4019C>G	c.(4018-4020)aCa>aGa	p.T1340R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1340	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCTTTAACAAGTATACCT	0.463																																						uc003uxp.1		NaN																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(4018-4020)ACA>AGA		mucin 17 precursor							229.0	224.0	226.0					7																	100678716		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678716C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4019C>G	7.37:g.100678716C>G	ENSP00000302716:p.Thr1340Arg					MUC17_uc010lho.1_RNA	p.T1340R	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	4072	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1340			Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4019C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	2.227	-0.376926	0.05000	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	0.656	0.656	0.17844	.	.	.	.	.	T	0.01558	0.0050	L	0.27053	0.805	0.09310	N	1	P	0.44380	0.834	B	0.27500	0.08	T	0.50013	-0.8877	8	0.17832	T	0.49	.	.	.	.	.	1340	Q685J3	MUC17_HUMAN	R	1340	ENSP00000302716:T1340R	ENSP00000302716:T1340R	T	+	2	0	MUC17	100465436	0.002000	0.14202	0.004000	0.12327	0.011000	0.07611	1.327000	0.33746	0.673000	0.31224	0.134000	0.15878	ACA		0.463	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1		NM_001040105		115	307	0	0	0	0.00361	0	115	307		
RINT1	60561	broad.mit.edu	37	7	105189056	105189056	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:105189056T>A	ENST00000257700.2	+	7	1126	c.895T>A	c.(895-897)Tcc>Acc	p.S299T		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	299	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCTTCCTGCCTCCCCTTCTGT	0.433																																						uc003vda.1		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(895-897)TCC>ACC		RAD50 interactor 1							203.0	178.0	186.0					7																	105189056		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105189056T>A	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.895T>A	7.37:g.105189056T>A	ENSP00000257700:p.Ser299Thr					RINT1_uc010ljj.1_Intron	p.S299T	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN			7	1126	+			299			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.895T>A	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	T	8.354	0.831656	0.16820	.	.	ENSG00000135249	ENST00000257700	T	0.22336	1.96	5.93	3.37	0.38596	.	0.678927	0.16144	N	0.227575	T	0.07143	0.0181	N	0.04508	-0.205	0.22656	N	0.998887	B	0.02656	0.0	B	0.04013	0.001	T	0.34576	-0.9823	10	0.12766	T	0.61	-4.0721	2.4825	0.04591	0.2506:0.0705:0.1346:0.5444	.	299	Q6NUQ1	RINT1_HUMAN	T	299	ENSP00000257700:S299T	ENSP00000257700:S299T	S	+	1	0	RINT1	104976292	0.375000	0.25089	0.721000	0.30653	0.880000	0.50808	1.193000	0.32162	1.029000	0.39812	0.528000	0.53228	TCC		0.433	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1		NM_021930		68	154	0	0	0	0.00361	0	68	154		
PIK3CG	5294	broad.mit.edu	37	7	106508023	106508023	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:106508023A>G	ENST00000359195.3	+	2	327	c.17A>G	c.(16-18)tAt>tGt	p.Y6C	PIK3CG_ENST00000440650.2_Missense_Mutation_p.Y6C|PIK3CG_ENST00000496166.1_Missense_Mutation_p.Y6C	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	6					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTGGAGAACTATAAACAGCCC	0.582																																						uc003vdv.3		NaN																	0				lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						c.(16-18)TAT>TGT		phosphoinositide-3-kinase, catalytic, gamma							45.0	52.0	50.0					7																	106508023		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508023A>G		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.17A>G	7.37:g.106508023A>G	ENSP00000352121:p.Tyr6Cys					PIK3CG_uc003vdu.2_Missense_Mutation_p.Y6C|PIK3CG_uc003vdw.2_Missense_Mutation_p.Y6C	p.Y6C	NM_002649	NP_002640	P48736	PK3CG_HUMAN			2	102	+			6					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.17A>G	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	A	9.416	1.081663	0.20309	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.69926	-0.44;-0.44;-0.44	5.64	-6.86	0.01676	.	1.140990	0.06395	N	0.717644	T	0.52386	0.1731	L	0.44542	1.39	0.25645	N	0.986165	B	0.02656	0.0	B	0.01281	0.0	T	0.48559	-0.9025	10	0.49607	T	0.09	4.9561	7.9699	0.30122	0.3759:0.4355:0.1886:0.0	.	6	P48736	PK3CG_HUMAN	C	6	ENSP00000392258:Y6C;ENSP00000419260:Y6C;ENSP00000352121:Y6C	ENSP00000352121:Y6C	Y	+	2	0	PIK3CG	106295259	0.238000	0.23825	0.003000	0.11579	0.944000	0.59088	1.011000	0.29911	-0.837000	0.04223	0.460000	0.39030	TAT		0.582	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1				24	72	0	0	0	0.004656	0	24	72		
LRRN3	54674	broad.mit.edu	37	7	110763553	110763553	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:110763553C>G	ENST00000422987.3	+	2	1556	c.725C>G	c.(724-726)tCt>tGt	p.S242C	IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S242C|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.S242C|IMMP2L_ENST00000405709.2_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	242					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S242C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		GAAAGCATCTCTTTTTACGAT	0.343																																						uc003vft.3		NaN																	1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1)	8						c.(724-726)TCT>TGT		leucine rich repeat neuronal 3 precursor							58.0	62.0	60.0					7																	110763553		2202	4298	6500	SO:0001583	missense	54674					integral to membrane		g.chr7:110763553C>G	AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.725C>G	7.37:g.110763553C>G	ENSP00000412417:p.Ser242Cys					IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Missense_Mutation_p.S242C|LRRN3_uc003vfs.3_Missense_Mutation_p.S242C	p.S242C	NM_001099660	NP_001093130	Q9H3W5	LRRN3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)	4	1771	+			242			Extracellular (Potential).|LRR 8.		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	c.725C>G	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.288331	0.59976	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.96	5.96	0.96718	.	0.000000	0.56097	D	0.000024	T	0.79149	0.4397	M	0.81802	2.56	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78342	-0.2241	10	0.51188	T	0.08	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	242	Q9H3W5	LRRN3_HUMAN	C	242	ENSP00000312001:S242C;ENSP00000397312:S242C;ENSP00000412417:S242C;ENSP00000407927:S242C	ENSP00000312001:S242C	S	+	2	0	LRRN3	110550789	1.000000	0.71417	0.997000	0.53966	0.789000	0.44602	7.818000	0.86416	2.831000	0.97527	0.650000	0.86243	TCT		0.343	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2		NM_018334		26	61	0	0	0	0.007291	0	26	61		
ING3	54556	broad.mit.edu	37	7	120610799	120610799	+	Missense_Mutation	SNP	A	A	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:120610799A>T	ENST00000315870.5	+	10	1114	c.966A>T	c.(964-966)ttA>ttT	p.L322F	ING3_ENST00000431467.1_Missense_Mutation_p.L307F	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	322	Poly-Ser.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|positive regulation of apoptotic process (GO:0043065)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)|Swr1 complex (GO:0000812)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					CTTCTTCCTTATCATCGTGTT	0.378																																						uc003vjn.2		NaN																	0				ovary(1)	1						c.(964-966)TTA>TTT		inhibitor of growth family, member 3 isoform 1							87.0	82.0	84.0					7																	120610799		2203	4300	6503	SO:0001583	missense	54556				histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding	g.chr7:120610799A>T	AF074968	CCDS5778.1, CCDS35497.1	7q31	2013-01-28			ENSG00000071243	ENSG00000071243		"""Zinc fingers, PHD-type"""	14587	protein-coding gene	gene with protein product		607493				12080476	Standard	NM_019071		Approved	p47ING3, FLJ20089, Eaf4, MEAF4	uc003vjn.3	Q9NXR8	OTTHUMG00000141270	ENST00000315870.5:c.966A>T	7.37:g.120610799A>T	ENSP00000320566:p.Leu322Phe					ING3_uc003vjo.2_Missense_Mutation_p.L96F|ING3_uc003vjp.2_Missense_Mutation_p.L322F|ING3_uc011kns.1_Missense_Mutation_p.L307F	p.L322F	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN			10	1100	+	all_neural(327;0.117)		322			Poly-Ser.		A8K790|O60394|Q567P3|Q6GMT3|Q7Z762|Q969G0|Q96DT4|Q9HC99|Q9P081	Missense_Mutation	SNP	ENST00000315870.5	37	c.966A>T	CCDS5778.1	.	.	.	.	.	.	.	.	.	.	A	15.07	2.723614	0.48728	.	.	ENSG00000071243	ENST00000315870;ENST00000431467	T;T	0.45668	0.89;0.89	6.04	-6.4	0.01944	.	0.625551	0.15715	N	0.248164	T	0.53465	0.1798	L	0.57536	1.79	0.39714	D	0.971376	D;D	0.65815	0.995;0.995	D;D	0.72982	0.979;0.979	T	0.64647	-0.6358	10	0.56958	D	0.05	-15.8507	15.0289	0.71691	0.3061:0.09:0.6038:0.0	.	322;322	Q5GRH6;Q9NXR8	.;ING3_HUMAN	F	322;307	ENSP00000320566:L322F;ENSP00000388506:L307F	ENSP00000320566:L322F	L	+	3	2	ING3	120398035	0.088000	0.21588	0.172000	0.22920	0.917000	0.54804	-0.566000	0.05922	-0.928000	0.03761	-0.280000	0.10049	TTA		0.378	ING3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280453.2		NM_019071		17	45	0	0	0	0.007413	0	17	45		
SVOPL	136306	broad.mit.edu	37	7	138312175	138312175	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:138312175G>A	ENST00000419765.3	-	11	1134	c.1101C>T	c.(1099-1101)ttC>ttT	p.F367F	SVOPL_ENST00000288513.5_Silent_p.F215F|SVOPL_ENST00000436657.1_Silent_p.F215F|SVOPL_ENST00000463557.1_5'UTR|SNORA40_ENST00000516379.1_RNA|SVOPL_ENST00000421622.1_Silent_p.F247F	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	367						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GTCTTCCCAGGAAATTGATGC	0.403																																						uc011kqh.1		NaN																	0					0						c.(1099-1101)TTC>TTT		SVOP-like isoform 1							96.0	89.0	91.0					7																	138312175		2203	4300	6503	SO:0001819	synonymous_variant	136306					integral to membrane	transmembrane transporter activity	g.chr7:138312175G>A	BC036796	CCDS5848.1, CCDS47721.1	7q34	2011-07-12	2007-04-04		ENSG00000157703	ENSG00000157703			27034	protein-coding gene	gene with protein product		611700	"""SV2 related protein homolog (rat)-like"""				Standard	NM_001139456		Approved	MGC46715	uc011kqh.2	Q8N434	OTTHUMG00000155870	ENST00000419765.3:c.1101C>T	7.37:g.138312175G>A						SVOPL_uc003vue.2_Silent_p.F215F	p.F367F	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN			11	1101	-			367			Helical; (Potential).			Silent	SNP	ENST00000419765.3	37	c.1101C>T	CCDS47721.1																																																																																				0.403	SVOPL-005	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342092.4		NM_174959		6	23	0	0	0	0.001984	0	6	23		
WEE2	494551	broad.mit.edu	37	7	141427156	141427156	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:141427156G>A	ENST00000397541.2	+	10	1851	c.1445G>A	c.(1444-1446)aGa>aAa	p.R482K	WEE2-AS1_ENST00000486906.1_RNA|WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|RNU1-82P_ENST00000390851.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	482	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GCTCTGGCCAGAAATACAGTT	0.458																																						uc003vwn.2		NaN																	0				ovary(1)|stomach(1)	2						c.(1444-1446)AGA>AAA		WEE1 homolog 2							124.0	121.0	122.0					7																	141427156		1854	4115	5969	SO:0001583	missense	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141427156G>A	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	ENST00000397541.2:c.1445G>A	7.37:g.141427156G>A	ENSP00000380675:p.Arg482Lys					FLJ40852_uc011krh.1_RNA|FLJ40852_uc010lnm.2_RNA|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	p.R482K	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN			10	1851	+	Melanoma(164;0.0171)		482			Protein kinase.			Missense_Mutation	SNP	ENST00000397541.2	37	c.1445G>A	CCDS43660.1	.	.	.	.	.	.	.	.	.	.	G	0.773	-0.765094	0.02996	.	.	ENSG00000214102	ENST00000397541;ENST00000493845	T;T	0.71222	-0.01;-0.55	5.6	1.66	0.24008	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.202276	0.40469	N	0.001085	T	0.34687	0.0906	N	0.03050	-0.425	0.29039	N	0.88519	B	0.02656	0.0	B	0.09377	0.004	T	0.33727	-0.9857	10	0.02654	T	1	.	4.9225	0.13876	0.4634:0.1518:0.3848:0.0	.	482	P0C1S8	WEE2_HUMAN	K	482;200	ENSP00000380675:R482K;ENSP00000420388:R200K	ENSP00000380675:R482K	R	+	2	0	WEE2	141073625	0.996000	0.38824	0.704000	0.30370	0.218000	0.24690	0.513000	0.22770	0.087000	0.17167	0.650000	0.86243	AGA		0.458	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1		NM_001105558		57	174	0	0	0	0.00361	0	57	174		
OR2A12	346525	broad.mit.edu	37	7	143793100	143793100	+	Silent	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:143793100A>G	ENST00000408949.2	+	1	960	c.900A>G	c.(898-900)ctA>ctG	p.L300L		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AAGGGGCTCTAAAGAGAGTCC	0.453																																						uc011kty.1		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(898-900)CTA>CTG		olfactory receptor, family 2, subfamily A,							163.0	156.0	158.0					7																	143793100		1861	4103	5964	SO:0001819	synonymous_variant	346525				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143793100A>G		CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.900A>G	7.37:g.143793100A>G							p.L300L	NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN			1	900	+	Melanoma(164;0.0783)		300			Cytoplasmic (Potential).		Q6IF43	Silent	SNP	ENST00000408949.2	37	c.900A>G	CCDS43670.1																																																																																				0.453	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349969.1				83	268	0	0	0	0.00361	0	83	268		
KMT2C	58508	broad.mit.edu	37	7	151864230	151864230	+	Splice_Site	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:151864230C>T	ENST00000262189.6	-	42	9969		c.e42+1		KMT2C_ENST00000355193.2_Splice_Site	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C						histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTATTTATTACCTGTTCTAGC	0.368																																						uc003wla.2		NaN								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.e42+1		myeloid/lymphoid or mixed-lineage leukemia 3							104.0	87.0	93.0					7																	151864230		2203	4300	6503	SO:0001630	splice_region_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151864230C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.9750+1G>A	7.37:g.151864230C>T						MLL3_uc003wkz.2_Splice_Site_p.Q2311_splice|MLL3_uc003wky.2_Splice_Site_p.Q759_splice	p.Q3250_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	42	9969	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)						Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Splice_Site	SNP	ENST00000262189.6	37	c.9750_splice	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.927371	0.92389	.	.	ENSG00000055609	ENST00000360104;ENST00000262189;ENST00000355193	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8184	0.96581	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MLL3	151495163	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.776000	0.85560	2.761000	0.94854	0.650000	0.86243	.		0.368	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			Intron	18	57	0	0	0	0.00499	0	18	57		
PAXIP1	22976	broad.mit.edu	37	7	154739621	154739621	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:154739621G>T	ENST00000404141.1	-	17	3068	c.2914C>A	c.(2914-2916)Ctc>Atc	p.L972I	PAXIP1_ENST00000397192.1_Missense_Mutation_p.L972I|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	972	BRCT 6. {ECO:0000255|PROSITE- ProRule:PRU00033}.|Interaction with TP53BP1.				adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		ACCTTAAAGAGTGGAGAAACG	0.448																																						uc003wlp.2		NaN																	0				lung(2)|ovary(1)|breast(1)|pancreas(1)	5						c.(2914-2916)CTC>ATC		PAX interacting protein 1							193.0	180.0	184.0					7																	154739621		1907	4131	6038	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154739621G>T	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.2914C>A	7.37:g.154739621G>T	ENSP00000384048:p.Leu972Ile					LOC100132707_uc003wlo.2_RNA|PAXIP1_uc003wlq.1_Missense_Mutation_p.L938I|PAXIP1_uc011kvs.1_Missense_Mutation_p.L936I	p.L972I	NM_007349	NP_031375	Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	17	2957	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	972			Interaction with TP53BP1.|BRCT 6.		O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.2914C>A	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066673	0.76301	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.48201	0.82;0.82	5.41	5.41	0.78517	BRCT (1);	0.000000	0.49305	U	0.000153	T	0.71592	0.3358	M	0.78285	2.405	0.80722	D	1	D;D;D	0.71674	0.998;0.993;0.989	D;D;D	0.85130	0.992;0.997;0.992	T	0.74250	-0.3726	10	0.72032	D	0.01	-25.2807	19.5534	0.95331	0.0:0.0:1.0:0.0	.	925;938;972	B4DEQ6;Q6ZW49-1;Q6ZW49	.;.;PAXI1_HUMAN	I	972;972;796;925	ENSP00000384048:L972I;ENSP00000380376:L972I	ENSP00000319149:L925I	L	-	1	0	PAXIP1	154370554	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	6.364000	0.73086	2.697000	0.92050	0.563000	0.77884	CTC		0.448	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1		NM_007349		61	194	1	0	5.10508e-28	0.00361	6.88038e-28	61	194		
NOM1	64434	broad.mit.edu	37	7	156745289	156745289	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr7:156745289A>G	ENST00000275820.3	+	2	1124	c.1109A>G	c.(1108-1110)aAc>aGc	p.N370S		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	370	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GGTCTACTTAACAGGTGACCT	0.413																																						uc003wmy.2		NaN																	0					0						c.(1108-1110)AAC>AGC		nucleolar protein with MIF4G domain 1							103.0	93.0	96.0					7																	156745289		2203	4300	6503	SO:0001583	missense	64434				RNA metabolic process	nucleolus	protein binding	g.chr7:156745289A>G	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1109A>G	7.37:g.156745289A>G	ENSP00000275820:p.Asn370Ser						p.N370S	NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	1124	+	Ovarian(565;0.218)	all_hematologic(28;0.0749)	370			MIF4G.		Q96I08	Missense_Mutation	SNP	ENST00000275820.3	37	c.1109A>G	CCDS34787.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.816849	0.50633	.	.	ENSG00000146909	ENST00000275820	T	0.34667	1.35	4.69	4.69	0.59074	MIF4G-like, type 3 (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.67896	0.2942	M	0.93678	3.445	0.80722	D	1	D	0.71674	0.998	D	0.76575	0.988	T	0.77064	-0.2726	10	0.87932	D	0	-23.8178	12.7703	0.57417	1.0:0.0:0.0:0.0	.	370	Q5C9Z4	NOM1_HUMAN	S	370	ENSP00000275820:N370S	ENSP00000275820:N370S	N	+	2	0	NOM1	156438050	1.000000	0.71417	0.982000	0.44146	0.091000	0.18340	7.867000	0.87062	1.754000	0.51921	0.456000	0.33151	AAC		0.413	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1		NM_138400		12	34	0	0	0	0.000978	0	12	34		
DLC1	10395	broad.mit.edu	37	8	13357474	13357474	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:13357474A>G	ENST00000276297.4	-	2	516	c.107T>C	c.(106-108)gTa>gCa	p.V36A	DLC1_ENST00000511869.1_Missense_Mutation_p.V36A|DLC1_ENST00000316609.5_Missense_Mutation_p.V36A	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	36					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGTCAGCTACTAGTCCATG	0.453																																						uc003wwm.2		NaN																	0				ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						c.(106-108)GTA>GCA		deleted in liver cancer 1 isoform 1							183.0	184.0	183.0					8																	13357474		2203	4300	6503	SO:0001583	missense	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:13357474A>G	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.107T>C	8.37:g.13357474A>G	ENSP00000276297:p.Val36Ala					DLC1_uc003wwn.2_Missense_Mutation_p.V36A|DLC1_uc011kxy.1_Missense_Mutation_p.V36A	p.V36A	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN			2	551	-			36					B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	ENST00000276297.4	37	c.107T>C	CCDS5989.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.626519	0.28978	.	.	ENSG00000164741	ENST00000276297;ENST00000316609;ENST00000511869	T;T;T	0.29655	1.56;1.56;1.56	5.53	0.233	0.15386	.	0.751210	0.10901	N	0.621578	T	0.15696	0.0378	N	0.19112	0.55	0.21290	N	0.99973	B;B;B	0.31318	0.021;0.319;0.001	B;B;B	0.26416	0.013;0.069;0.003	T	0.18335	-1.0340	10	0.38643	T	0.18	.	4.7931	0.13259	0.4753:0.2845:0.2403:0.0	.	36;36;36	E9PF76;Q96QB1-3;Q96QB1	.;.;RHG07_HUMAN	A	36	ENSP00000276297:V36A;ENSP00000321034:V36A;ENSP00000425878:V36A	ENSP00000276297:V36A	V	-	2	0	DLC1	13401845	0.991000	0.36638	0.954000	0.39281	0.968000	0.65278	0.846000	0.27682	-0.078000	0.12730	-0.316000	0.08728	GTA		0.453	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2		NM_182643, NM_006094		97	164	0	0	0	0.00361	0	97	164		
PSD3	23362	broad.mit.edu	37	8	18662314	18662314	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:18662314C>A	ENST00000327040.8	-	5	1831	c.1729G>T	c.(1729-1731)Ggt>Tgt	p.G577C	PSD3_ENST00000523619.1_Missense_Mutation_p.G512C|PSD3_ENST00000440756.2_Missense_Mutation_p.G577C|PSD3_ENST00000286485.8_Missense_Mutation_p.G43C	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	577	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTGCTGGTACCATTACTGAGA	0.448																																						uc003wza.2		NaN																	0				ovary(3)	3						c.(1729-1731)GGT>TGT		ADP-ribosylation factor guanine nucleotide							189.0	188.0	188.0					8																	18662314		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18662314C>A	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1729G>T	8.37:g.18662314C>A	ENSP00000324127:p.Gly577Cys					PSD3_uc003wyy.2_Missense_Mutation_p.G43C|PSD3_uc003wyz.2_5'UTR	p.G577C	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	5	1832	-			577			SEC7.		A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.1729G>T	CCDS43720.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.2|20.2	3.944939|3.944939	0.73672|0.73672	.|.	.|.	ENSG00000156011|ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000286485;ENST00000523619;ENST00000519851|ENST00000520858;ENST00000521027	T;T;T;T;T|.	0.51574|.	0.7;0.7;0.7;0.7;0.7|.	6.07|6.07	5.2|5.2	0.72013|0.72013	.|.	0.066183|.	0.64402|.	D|.	0.000007|.	T|T	0.73009|0.73009	0.3532|0.3532	M|M	0.73962|0.73962	2.25|2.25	0.51233|0.51233	D|D	0.999913|0.999913	D;D|.	0.76494|.	0.999;0.988|.	D;D|.	0.76071|.	0.987;0.921|.	T|T	0.73773|0.73773	-0.3877|-0.3877	10|5	0.87932|.	D|.	0|.	.|.	13.2175|13.2175	0.59869|0.59869	0.0:0.9236:0.0:0.0764|0.0:0.9236:0.0:0.0764	.|.	577;43|.	E9KL50;Q9NYI0-3|.	.;.|.	C|L	577;577;43;512;18|9;24	ENSP00000324127:G577C;ENSP00000401704:G577C;ENSP00000286485:G43C;ENSP00000430640:G512C;ENSP00000429069:G18C|.	ENSP00000286485:G43C|.	G|W	-|-	1|2	0|0	PSD3|PSD3	18706594|18706594	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.721000|0.721000	0.41392|0.41392	3.353000|3.353000	0.52247|0.52247	1.586000|1.586000	0.49944|0.49944	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.448	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1		NM_015310		75	284	1	0	1.77355e-41	0.00361	2.40697e-41	75	284		
SH2D4A	63898	broad.mit.edu	37	8	19190582	19190582	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:19190582G>A	ENST00000265807.3	+	3	709	c.298G>A	c.(298-300)Gag>Aag	p.E100K	SH2D4A_ENST00000519207.1_Missense_Mutation_p.E100K|SH2D4A_ENST00000518040.1_Missense_Mutation_p.E55K	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	100					negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		AATTATTGCTGAGAGGGCCCG	0.458																																						uc003wzb.2		NaN																	0					0						c.(298-300)GAG>AAG		SH2 domain containing 4A							95.0	96.0	96.0					8																	19190582		2203	4300	6503	SO:0001583	missense	63898					cytoplasm|nucleus	protein binding	g.chr8:19190582G>A	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.298G>A	8.37:g.19190582G>A	ENSP00000265807:p.Glu100Lys					SH2D4A_uc011kym.1_Missense_Mutation_p.E55K|SH2D4A_uc003wzc.2_Missense_Mutation_p.E100K	p.E100K	NM_022071	NP_071354	Q9H788	SH24A_HUMAN		Colorectal(111;0.0732)	3	634	+			100					B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	37	c.298G>A	CCDS6009.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082521	0.55861	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207;ENST00000523736	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.58	4.71	0.59529	.	0.069520	0.64402	D	0.000019	T	0.43678	0.1258	M	0.84326	2.69	0.46631	D	0.999137	D;D	0.59767	0.983;0.986	P;P	0.55923	0.784;0.787	T	0.51733	-0.8668	10	0.66056	D	0.02	.	14.4779	0.67559	0.0:0.1477:0.8523:0.0	.	55;100	B4DDR1;Q9H788	.;SH24A_HUMAN	K	100;55;100;86	ENSP00000265807:E100K;ENSP00000429482:E55K;ENSP00000428684:E100K;ENSP00000428048:E86K	ENSP00000265807:E100K	E	+	1	0	SH2D4A	19234862	0.997000	0.39634	0.948000	0.38648	0.213000	0.24496	2.576000	0.46033	1.354000	0.45846	0.455000	0.32223	GAG		0.458	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1		NM_022071		31	103	0	0	0	0.001786	0	31	103		
PDLIM2	64236	broad.mit.edu	37	8	22442884	22442884	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:22442884C>G	ENST00000397760.4	+	6	912	c.512C>G	c.(511-513)tCc>tGc	p.S171C	PDLIM2_ENST00000339162.7_Missense_Mutation_p.S171C|PDLIM2_ENST00000409417.1_Missense_Mutation_p.S171C|PDLIM2_ENST00000448520.1_3'UTR|PDLIM2_ENST00000409141.1_Missense_Mutation_p.S171C|PDLIM2_ENST00000397761.2_Missense_Mutation_p.S171C|PDLIM2_ENST00000265810.4_Missense_Mutation_p.S171C|PDLIM2_ENST00000308354.7_Missense_Mutation_p.S421C			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)	171						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		GACCGCCTGTCCTACTCAGGC	0.672																																						uc003xby.2		NaN																	0					0						c.(511-513)TCC>TGC		PDZ and LIM domain 2 isoform 2							32.0	25.0	27.0					8																	22442884		2202	4299	6501	SO:0001583	missense	64236					actin cytoskeleton|cell surface|cytoplasm|focal adhesion|nucleus	zinc ion binding	g.chr8:22442884C>G	AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.512C>G	8.37:g.22442884C>G	ENSP00000380867:p.Ser171Cys					PDLIM2_uc003xbx.1_Missense_Mutation_p.S171C|PDLIM2_uc003xbz.2_Missense_Mutation_p.S171C|PDLIM2_uc003xca.2_Missense_Mutation_p.S171C|PDLIM2_uc003xcb.2_Missense_Mutation_p.S171C|PDLIM2_uc003xcc.1_Missense_Mutation_p.S171C	p.S171C	NM_021630	NP_067643	Q96JY6	PDLI2_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)	6	912	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	171					D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Missense_Mutation	SNP	ENST00000397760.4	37	c.512C>G		.	.	.	.	.	.	.	.	.	.	C	22.2	4.255497	0.80135	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000397761;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	T;T;T;T;T;T;T;T;T;T;T	0.27557	1.84;3.44;2.47;2.48;2.46;2.48;1.66;1.74;2.46;2.59;2.48	4.98	3.08	0.35506	.	0.427533	0.22763	N	0.055935	T	0.43166	0.1235	M	0.62723	1.935	0.20563	N	0.999888	D;D;D;D	0.65815	0.995;0.979;0.992;0.983	P;P;P;P	0.58873	0.847;0.723;0.62;0.533	T	0.15321	-1.0441	10	0.54805	T	0.06	-24.3219	8.2072	0.31463	0.1777:0.6508:0.1715:0.0	.	171;171;171;171	Q96JY6-3;Q96JY6-4;Q96JY6;C9JS55	.;.;PDLI2_HUMAN;.	C	171;421;171;171;171;171;171;171;171;171;171	ENSP00000401992:S171C;ENSP00000312634:S421C;ENSP00000394376:S171C;ENSP00000380867:S171C;ENSP00000342035:S171C;ENSP00000380868:S171C;ENSP00000392920:S171C;ENSP00000407643:S171C;ENSP00000386868:S171C;ENSP00000265810:S171C;ENSP00000387084:S171C	ENSP00000265810:S171C	S	+	2	0	PDLIM2	22498829	0.029000	0.19370	0.442000	0.26870	0.603000	0.37013	0.251000	0.18257	1.315000	0.45114	0.561000	0.74099	TCC		0.672	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000334167.1				5	30	0	0	0	0.001168	0	5	30		
TNFRSF10A	8797	broad.mit.edu	37	8	23056919	23056919	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:23056919C>T	ENST00000221132.3	-	8	938	c.874G>A	c.(874-876)Gag>Aag	p.E292K		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	292					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCATTGTCCTCAGCCCCAGGC	0.587																																						uc003xda.2		NaN																	0				central_nervous_system(3)|ovary(2)|skin(1)	6						c.(874-876)GAG>AAG		tumor necrosis factor receptor superfamily,							88.0	87.0	87.0					8																	23056919		2203	4300	6503	SO:0001583	missense	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23056919C>T	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.874G>A	8.37:g.23056919C>T	ENSP00000221132:p.Glu292Lys						p.E292K	NM_003844	NP_003835	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	8	939	-		Prostate(55;0.0421)|Breast(100;0.14)	292			Cytoplasmic (Potential).		A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	c.874G>A	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	7.535	0.659425	0.14645	.	.	ENSG00000104689	ENST00000221132	D	0.83335	-1.71	3.69	-7.39	0.01402	.	7739.210000	0.00166	U	0.000003	T	0.73171	0.3553	L	0.35341	1.055	0.09310	N	1	B	0.30824	0.296	B	0.26202	0.067	T	0.65199	-0.6226	10	0.54805	T	0.06	.	11.0337	0.47789	0.0:0.6073:0.1352:0.2575	.	292	O00220	TR10A_HUMAN	K	292	ENSP00000221132:E292K	ENSP00000221132:E292K	E	-	1	0	TNFRSF10A	23112864	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.541000	0.06099	-2.156000	0.00790	-0.964000	0.02622	GAG		0.587	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2		NM_003844		39	58	0	0	0	0.007835	0	39	58		
CHMP7	91782	broad.mit.edu	37	8	23112797	23112797	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:23112797C>T	ENST00000397677.1	+	4	1157	c.509C>T	c.(508-510)tCg>tTg	p.S170L	CHMP7_ENST00000313219.7_Missense_Mutation_p.S170L	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	170					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TATCAGAACTCGCCCCTCTCC	0.592																																						uc003xdc.2		NaN																	0					0						c.(508-510)TCG>TTG		CHMP family, member 7							79.0	73.0	75.0					8																	23112797		2203	4300	6503	SO:0001583	missense	91782				cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity	g.chr8:23112797C>T	BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.509C>T	8.37:g.23112797C>T	ENSP00000380794:p.Ser170Leu					CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Missense_Mutation_p.S60L|CHMP7_uc003xde.2_Missense_Mutation_p.S28L	p.S170L	NM_152272	NP_689485	Q8WUX9	CHMP7_HUMAN		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)	4	1157	+		Prostate(55;0.0513)	170					B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	c.509C>T	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149487	0.57151	.	.	ENSG00000147457	ENST00000397677;ENST00000313219;ENST00000519984	T;T	0.60672	0.17;0.17	5.79	5.79	0.91817	.	0.100280	0.64402	D	0.000002	T	0.72724	0.3496	L	0.59436	1.845	0.53005	D	0.999961	D;B	0.89917	1.0;0.317	D;B	0.80764	0.994;0.026	T	0.66826	-0.5825	10	0.27082	T	0.32	-11.1302	18.586	0.91189	0.0:1.0:0.0:0.0	.	60;170	B3KRZ9;Q8WUX9	.;CHMP7_HUMAN	L	170;170;183	ENSP00000380794:S170L;ENSP00000324491:S170L	ENSP00000324491:S170L	S	+	2	0	CHMP7	23168742	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	4.792000	0.62467	2.726000	0.93360	0.655000	0.94253	TCG		0.592	CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1		NM_152272		16	53	0	0	0	0.004007	0	16	53		
NEFM	4741	broad.mit.edu	37	8	24775841	24775841	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:24775841G>A	ENST00000221166.5	+	3	3255	c.2473G>A	c.(2473-2475)Gag>Aag	p.E825K	NEFM_ENST00000433454.2_Missense_Mutation_p.E449K|NEFM_ENST00000518131.1_Missense_Mutation_p.E607K|NEFM_ENST00000437366.2_Missense_Mutation_p.E786K|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	825	Tail.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tgggagggaagaggagaaagG	0.512																																						uc003xed.3		NaN																	0				breast(1)	1						c.(2473-2475)GAG>AAG		neurofilament, medium polypeptide 150kDa isoform							63.0	60.0	61.0					8																	24775841		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24775841G>A	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.2473G>A	8.37:g.24775841G>A	ENSP00000221166:p.Glu825Lys					NEFM_uc011lac.1_Missense_Mutation_p.E607K|NEFM_uc010lue.2_Missense_Mutation_p.E449K	p.E825K	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	3	2506	+		Prostate(55;0.157)	825			Tail.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.2473G>A	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615618	0.46631	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366;ENST00000433454	D;D;D;D	0.94687	-1.9;-1.82;-1.77;-3.49	4.63	4.63	0.57726	.	0.151564	0.29100	N	0.013154	D	0.91202	0.7228	L	0.34521	1.04	0.44745	D	0.997744	B;B	0.23540	0.011;0.087	B;B	0.21151	0.006;0.033	D	0.89161	0.3530	10	0.72032	D	0.01	.	17.4838	0.87682	0.0:0.0:1.0:0.0	.	607;825	E7EMV2;P07197	.;NFM_HUMAN	K	825;607;786;449	ENSP00000221166:E825K;ENSP00000427872:E607K;ENSP00000410137:E786K;ENSP00000412295:E449K	ENSP00000221166:E825K	E	+	1	0	NEFM	24831746	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.189000	0.72051	2.114000	0.64651	0.467000	0.42956	GAG		0.512	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2		NM_005382		22	21	0	0	0	0.002299	0	22	21		
EPHX2	2053	broad.mit.edu	37	8	27361273	27361273	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:27361273G>T	ENST00000521400.1	+	3	769	c.339G>T	c.(337-339)agG>agT	p.R113S	EPHX2_ENST00000521780.1_Missense_Mutation_p.R47S|EPHX2_ENST00000518379.1_Missense_Mutation_p.R113S|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000380476.3_Missense_Mutation_p.R60S|EPHX2_ENST00000520666.1_3'UTR	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	113	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		TCATGCTCAGGAAGAAAGGTA	0.493																																						uc003xfu.2		NaN																	0				ovary(1)	1						c.(337-339)AGG>AGT		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)						48.0	48.0	48.0					8																	27361273		2203	4300	6503	SO:0001583	missense	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27361273G>T	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.339G>T	8.37:g.27361273G>T	ENSP00000430269:p.Arg113Ser					EPHX2_uc010lut.1_Missense_Mutation_p.R113S|EPHX2_uc010luu.2_Missense_Mutation_p.R113S|EPHX2_uc010luv.2_Missense_Mutation_p.R47S|EPHX2_uc003xfv.2_Missense_Mutation_p.R60S|EPHX2_uc010luw.2_Missense_Mutation_p.R47S|EPHX2_uc011lam.1_5'Flank	p.R113S	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	3	420	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	113			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	ENST00000521400.1	37	c.339G>T	CCDS6060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.69|14.69	2.611261|2.611261	0.46631|0.46631	.|.	.|.	ENSG00000120915|ENSG00000120915	ENST00000521684|ENST00000521400;ENST00000518328;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	.|T;T;T;T;T	.|0.11277	.|3.35;2.79;3.35;3.35;3.35	5.41|5.41	0.482|0.482	0.16815|0.16815	.|Predicted HAD-superfamily phosphatase, subfamily IA/Epoxide hydrolase, N-terminal (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	.|0.251110	.|0.44688	.|D	.|0.000422	T|T	0.28333|0.28333	0.0700|0.0700	M|M	0.86805|0.86805	2.84|2.84	0.43399|0.43399	D|D	0.995525|0.995525	.|D;D;D	.|0.69078	.|0.976;0.996;0.997	.|P;P;P	.|0.62560	.|0.904;0.893;0.817	T|T	0.02950|0.02950	-1.1090|-1.1090	5|10	.|0.72032	.|D	.|0.01	-4.7989|-4.7989	7.2989|7.2989	0.26409|0.26409	0.6094:0.0:0.3906:0.0|0.6094:0.0:0.3906:0.0	.|.	.|113;113;113	.|E5RFU2;E7ETW9;P34913	.|.;.;HYES_HUMAN	V|S	113|113;113;47;60;113;113	.|ENSP00000430269:R113S;ENSP00000430779:R113S;ENSP00000430302:R47S;ENSP00000369843:R60S;ENSP00000427956:R113S	.|ENSP00000369843:R60S	G|R	+|+	2|3	0|2	EPHX2|EPHX2	27417190|27417190	0.946000|0.946000	0.32159|0.32159	0.993000|0.993000	0.49108|0.49108	0.043000|0.043000	0.13939|0.13939	0.357000|0.357000	0.20199|0.20199	0.119000|0.119000	0.18210|0.18210	-0.302000|-0.302000	0.09304|0.09304	GGA|AGG		0.493	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4				23	97	1	0	2.64397e-27	0.005443	3.55726e-27	23	97		
TTI2	80185	broad.mit.edu	37	8	33370001	33370001	+	Missense_Mutation	SNP	C	C	T	rs563450224	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:33370001C>T	ENST00000431156.2	-	2	749	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	TTI2_ENST00000360742.5_Missense_Mutation_p.R44Q|TTI2_ENST00000519356.1_5'Flank|TTI2_ENST00000520636.1_Missense_Mutation_p.R44Q|SNORD13_ENST00000459299.1_RNA	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	44																	TACATTGCCTCGTCGTGCCTC	0.507																																						uc003xjl.3		NaN																	0					0						c.(130-132)CGA>CAA		hypothetical protein LOC80185							70.0	72.0	71.0					8																	33370001		2203	4300	6503	SO:0001583	missense	80185						binding	g.chr8:33370001C>T	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.131G>A	8.37:g.33370001C>T	ENSP00000411169:p.Arg44Gln					C8orf41_uc003xjk.3_Missense_Mutation_p.R44Q|C8orf41_uc010lvv.2_Missense_Mutation_p.R44Q|C8orf41_uc003xjm.3_Missense_Mutation_p.R44Q|C8orf41_uc003xjn.1_Missense_Mutation_p.R44Q	p.R44Q	NM_025115	NP_079391	Q6NXR4	CH041_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111)	1	656	-			44					D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	c.131G>A	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444815	0.25987	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636;ENST00000520397;ENST00000523305	T;T;T;T	0.55052	0.54;0.54;0.54;0.82	4.23	1.34	0.21922	.	1.114710	0.07085	N	0.837643	T	0.34395	0.0896	L	0.33093	0.98	0.09310	N	1	B;B;B	0.25850	0.136;0.052;0.023	B;B;B	0.11329	0.006;0.003;0.003	T	0.18587	-1.0332	10	0.13853	T	0.58	-3.9714	3.5217	0.07744	0.1967:0.5904:0.0:0.2129	.	44;44;44	E5RH83;Q6NXR4;E5RIH5	.;TTI2_HUMAN;.	Q	44	ENSP00000353971:R44Q;ENSP00000411169:R44Q;ENSP00000428401:R44Q;ENSP00000428569:R44Q	ENSP00000353971:R44Q	R	-	2	0	C8orf41	33489543	0.000000	0.05858	0.004000	0.12327	0.006000	0.05464	-0.201000	0.09464	0.148000	0.19059	-0.169000	0.13324	CGA		0.507	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1		NM_025115		32	151	0	0	0	0.004289	0	32	151		
ADAM2	2515	broad.mit.edu	37	8	39645638	39645638	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:39645638C>A	ENST00000265708.4	-	9	878	c.775G>T	c.(775-777)Gtt>Ttt	p.V259F	ADAM2_ENST00000379853.2_Intron|ADAM2_ENST00000521880.1_Missense_Mutation_p.V259F|ADAM2_ENST00000347580.4_Missense_Mutation_p.V240F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	259	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGACGTAAAACAAGATAAGAT	0.308																																						uc003xnj.2		NaN																	0				ovary(1)|lung(1)	2						c.(775-777)GTT>TTT		ADAM metallopeptidase domain 2 proprotein							91.0	90.0	90.0					8																	39645638		2202	4288	6490	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39645638C>A	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.775G>T	8.37:g.39645638C>A	ENSP00000265708:p.Val259Phe					ADAM2_uc003xnk.2_Missense_Mutation_p.V240F|ADAM2_uc011lck.1_Missense_Mutation_p.V259F|ADAM2_uc003xnl.2_Intron	p.V259F	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	9	850	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	259			Extracellular (Potential).|Peptidase M12B.		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.775G>T	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.312029	0.40895	.	.	ENSG00000104755	ENST00000347580;ENST00000265708;ENST00000521880	T;T;T	0.09350	2.99;2.99;2.99	4.57	3.7	0.42460	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.12475	0.0303	L	0.49699	1.58	0.39440	D	0.967239	B;B;B	0.28552	0.132;0.179;0.215	B;B;B	0.36378	0.223;0.142;0.223	T	0.09292	-1.0681	8	.	.	.	.	8.9527	0.35799	0.0:0.8946:0.0:0.1054	.	259;240;259	B4DWY7;Q99965-2;Q99965	.;.;ADAM2_HUMAN	F	240;259;259	ENSP00000343854:V240F;ENSP00000265708:V259F;ENSP00000429352:V259F	.	V	-	1	0	ADAM2	39764795	0.992000	0.36948	0.998000	0.56505	0.932000	0.56968	1.248000	0.32827	1.047000	0.40274	0.460000	0.39030	GTT		0.308	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1		NM_001464		22	95	1	0	1.96292e-10	0.001523	2.48637e-10	22	95		
RB1CC1	9821	broad.mit.edu	37	8	53568671	53568671	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:53568671C>T	ENST00000025008.5	-	15	4241	c.3718G>A	c.(3718-3720)Gaa>Aaa	p.E1240K	RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.E1240K|RB1CC1_ENST00000435644.2_Missense_Mutation_p.E1240K	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	1240					autophagic vacuole assembly (GO:0000045)|cell cycle (GO:0007049)|heart development (GO:0007507)|JNK cascade (GO:0007254)|liver development (GO:0001889)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell size (GO:0045793)|positive regulation of protein phosphorylation (GO:0001934)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)				NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TGAATAGCTTCATCTTTTTCA	0.343																																					GBM(180;1701 2102 13475 42023 52570)	uc003xre.3		NaN																	0				ovary(8)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	11						c.(3718-3720)GAA>AAA		Rb1-inducible coiled coil protein 1 isoform 1							144.0	144.0	144.0					8																	53568671		2201	4298	6499	SO:0001583	missense	9821				autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	g.chr8:53568671C>T	AB059622	CCDS34892.1, CCDS47856.1	8q11	2014-06-13				ENSG00000023287			15574	protein-coding gene	gene with protein product	"""200 kDa FAK family kinase-interacting protein"", ""phosphatase 1, regulatory subunit 131"""	606837				11850849, 7724523, 18443221	Standard	NM_014781		Approved	KIAA0203, Cc1, DRAGOU14, FIP200, ATG17, PPP1R131	uc003xre.4	Q8TDY2		ENST00000025008.5:c.3718G>A	8.37:g.53568671C>T	ENSP00000025008:p.Glu1240Lys					RB1CC1_uc003xrf.3_Missense_Mutation_p.E1240K	p.E1240K	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN			15	4276	-		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)	1240			Potential.		Q86YR4|Q8WVU9|Q92601	Missense_Mutation	SNP	ENST00000025008.5	37	c.3718G>A	CCDS34892.1	.	.	.	.	.	.	.	.	.	.	C	11.48	1.652656	0.29336	.	.	ENSG00000023287	ENST00000025008;ENST00000435644;ENST00000539297	T;T;T	0.15834	2.39;2.39;2.39	5.14	4.25	0.50352	.	0.246717	0.41396	N	0.000899	T	0.10508	0.0257	N	0.17082	0.46	0.39681	D	0.970895	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.10823	-1.0613	10	0.11485	T	0.65	-5.2196	14.3581	0.66752	0.0:0.9272:0.0:0.0728	.	1240;1240	Q8TDY2-2;Q8TDY2	.;RBCC1_HUMAN	K	1240	ENSP00000025008:E1240K;ENSP00000396067:E1240K;ENSP00000445960:E1240K	ENSP00000025008:E1240K	E	-	1	0	RB1CC1	53731224	1.000000	0.71417	0.935000	0.37517	0.932000	0.56968	3.380000	0.52448	1.268000	0.44264	0.650000	0.86243	GAA		0.343	RB1CC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378011.1		NM_014781		80	104	0	0	0	0.00361	0	80	104		
PENK	5179	broad.mit.edu	37	8	57353869	57353869	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:57353869C>T	ENST00000314922.3	-	2	842	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	PENK_ENST00000451791.2_Missense_Mutation_p.E256K|PENK_ENST00000523274.1_5'Flank	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	256					aggressive behavior (GO:0002118)|behavioral fear response (GO:0001662)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|startle response (GO:0001964)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			TTTTCCATTTCAGGAACTTCT	0.502																																						uc003xsz.2		NaN																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(766-768)GAA>AAA		proenkephalin							76.0	86.0	82.0					8																	57353869		2203	4300	6503	SO:0001583	missense	5179				neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:57353869C>T		CCDS6168.1	8q23-q24	2013-02-26				ENSG00000181195		"""Endogenous ligands"""	8831	protein-coding gene	gene with protein product	"""preproenkephalin"""	131330				6281660	Standard	NM_006211		Approved		uc003xsz.2	P01210		ENST00000314922.3:c.766G>A	8.37:g.57353869C>T	ENSP00000324248:p.Glu256Lys					PENK_uc003xta.3_Missense_Mutation_p.E256K	p.E256K	NM_006211	NP_006202	P01210	PENK_HUMAN	Epithelial(17;0.000873)|all cancers(17;0.0069)		2	847	-		all_lung(136;0.229)	256					B2RC23|Q6FHC6|Q6FHE6	Missense_Mutation	SNP	ENST00000314922.3	37	c.766G>A	CCDS6168.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.524438	0.85600	.	.	ENSG00000181195	ENST00000314922;ENST00000451791	T;T	0.77358	-1.09;-1.09	5.91	5.03	0.67393	.	0.153113	0.64402	D	0.000012	T	0.81293	0.4792	L	0.52905	1.665	0.80722	D	1	P	0.52316	0.952	P	0.51742	0.678	T	0.83281	-0.0038	10	0.66056	D	0.02	-19.4043	16.2654	0.82577	0.0:0.8675:0.1325:0.0	.	256	P01210	PENK_HUMAN	K	256	ENSP00000324248:E256K;ENSP00000400894:E256K	ENSP00000324248:E256K	E	-	1	0	PENK	57516423	1.000000	0.71417	0.142000	0.22268	0.888000	0.51559	5.094000	0.64523	1.477000	0.48234	0.655000	0.94253	GAA		0.502	PENK-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378645.1				105	175	0	0	0	0.00361	0	105	175		
TOX	9760	broad.mit.edu	37	8	59728257	59728257	+	Missense_Mutation	SNP	C	C	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:59728257C>G	ENST00000361421.1	-	7	1252	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	344						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GTTGAGATGTCTTCACGTCAA	0.507																																					Pancreas(161;610 1969 17913 21374 22725)	uc003xtw.1		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(1030-1032)AAG>AAC		thymus high mobility group box protein TOX							84.0	86.0	85.0					8																	59728257		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59728257C>G		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1032G>C	8.37:g.59728257C>G	ENSP00000354842:p.Lys344Asn						p.K344N	NM_014729	NP_055544	O94900	TOX_HUMAN			7	1253	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	344					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.1032G>C	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.419000	0.62622	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.14022	2.54	6.07	3.99	0.46301	High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	T	0.10508	0.0257	N	0.19112	0.55	0.54753	D	0.999989	P	0.49185	0.92	B	0.44085	0.44	T	0.21008	-1.0258	9	.	.	.	.	12.5964	0.56472	0.0:0.8042:0.0:0.1958	.	344	O94900	TOX_HUMAN	N	344;102	ENSP00000354842:K344N	.	K	-	3	2	TOX	59890811	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	2.691000	0.47010	1.584000	0.49913	-0.137000	0.14449	AAG		0.507	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1		NM_014729		27	74	0	0	0	0.00632	0	27	74		
ZFHX4	79776	broad.mit.edu	37	8	77618118	77618118	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:77618118G>T	ENST00000521891.2	+	2	2243	c.1795G>T	c.(1795-1797)Ggc>Tgc	p.G599C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G599C|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G599C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G599C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GAGTACTCCTGGCACACCAGG	0.572										HNSCC(33;0.089)																												uc003yav.2		NaN																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1795-1797)GGC>TGC		zinc finger homeodomain 4							69.0	74.0	73.0					8																	77618118		2102	4217	6319	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618118G>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1795G>T	8.37:g.77618118G>T	ENSP00000430497:p.Gly599Cys	HNSCC(33;0.089)				ZFHX4_uc003yat.1_Missense_Mutation_p.G599C|ZFHX4_uc003yau.1_Missense_Mutation_p.G599C|ZFHX4_uc003yaw.1_Missense_Mutation_p.G599C	p.G599C	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2182	+			599					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.1795G>T	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961891	0.34659	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.54866	0.56;0.61;0.57;0.55	5.65	3.88	0.44766	.	0.298701	0.23914	U	0.043312	T	0.66036	0.2749	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.998;0.999	P;D;D;D	0.68943	0.875;0.941;0.941;0.961	T	0.66681	-0.5862	10	0.62326	D	0.03	.	10.5366	0.45007	0.2219:0.0:0.7781:0.0	.	599;599;599;599	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	C	599	ENSP00000430497:G599C;ENSP00000399605:G599C;ENSP00000050961:G599C;ENSP00000430848:G599C	ENSP00000050961:G599C	G	+	1	0	ZFHX4	77780673	0.997000	0.39634	0.768000	0.31515	0.187000	0.23431	2.265000	0.43311	0.955000	0.37878	0.655000	0.94253	GGC		0.572	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2		NM_024721		49	66	1	0	1.4374e-25	0.00361	1.92064e-25	49	66		
CHMP4C	92421	broad.mit.edu	37	8	82670747	82670747	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:82670747G>A	ENST00000297265.4	+	5	863	c.670G>A	c.(670-672)Gat>Aat	p.D224N		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	224	Intramolecular interaction with N- terminus. {ECO:0000250}.				abscission (GO:0009838)|cytokinesis checkpoint (GO:0031565)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|negative regulation of cytokinesis (GO:0032466)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Flemming body (GO:0090543)|membrane (GO:0016020)|midbody (GO:0030496)	protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						AGAGGATGATGATATCAAACA	0.318																																						uc003ycl.2		NaN																	0				ovary(2)	2						c.(670-672)GAT>AAT		chromatin modifying protein 4C							99.0	100.0	100.0					8																	82670747		2203	4299	6502	SO:0001583	missense	92421				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	g.chr8:82670747G>A	AK000049	CCDS6233.1	8q21.13	2011-09-21	2011-09-21		ENSG00000164695	ENSG00000164695		"""Charged multivesicular body proteins"""	30599	protein-coding gene	gene with protein product	"""Snf7 homologue associated with Alix 3"""	610899	"""chromatin modifying protein 4C"""			12860994 , 14678797	Standard	NM_152284		Approved	MGC22825, Shax3, VPS32C	uc003ycl.3	Q96CF2	OTTHUMG00000164726	ENST00000297265.4:c.670G>A	8.37:g.82670747G>A	ENSP00000297265:p.Asp224Asn						p.D224N	NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN			5	844	+			224			Intramolecular interaction with N- terminus (By similarity).		B2RBZ1	Missense_Mutation	SNP	ENST00000297265.4	37	c.670G>A	CCDS6233.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384274	0.82792	.	.	ENSG00000164695	ENST00000297265	T	0.55760	0.5	6.11	6.11	0.99139	.	0.041199	0.85682	D	0.000000	T	0.38719	0.1051	N	0.08118	0	0.80722	D	1	B	0.34290	0.447	B	0.34242	0.178	T	0.42515	-0.9447	10	0.72032	D	0.01	-11.5446	19.5057	0.95114	0.0:0.0:1.0:0.0	.	224	Q96CF2	CHM4C_HUMAN	N	224	ENSP00000297265:D224N	ENSP00000297265:D224N	D	+	1	0	CHMP4C	82833302	1.000000	0.71417	0.977000	0.42913	0.986000	0.74619	7.784000	0.85713	2.906000	0.99361	0.655000	0.94253	GAT		0.318	CHMP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379927.1		NM_152284		20	98	0	0	0	0.001882	0	20	98		
NBN	4683	broad.mit.edu	37	8	90995014	90995014	+	Missense_Mutation	SNP	T	T	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:90995014T>G	ENST00000265433.3	-	2	261	c.107A>C	c.(106-108)gAa>gCa	p.E36A	NBN_ENST00000409330.1_5'UTR	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	36	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.				blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CTGATCATTTTCAATCAGAAT	0.343								Homologous recombination																														uc003yej.1		NaN																	0				central_nervous_system(3)|kidney(3)|lung(1)	7						c.(106-108)GAA>GCA	Direct_reversal_of_damage|Homologous_recombination	nibrin							137.0	128.0	131.0					8																	90995014		2203	4300	6503	SO:0001583	missense	4683	Nijmegen_Breakage_syndrome			cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding	g.chr8:90995014T>G	AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.107A>C	8.37:g.90995014T>G	ENSP00000265433:p.Glu36Ala					NBN_uc003yei.1_5'UTR|NBN_uc011lgb.1_Missense_Mutation_p.E36A	p.E36A	NM_002485	NP_002476	O60934	NBN_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0344)		2	217	-			36			FHA.		B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Missense_Mutation	SNP	ENST00000265433.3	37	c.107A>C	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	T	18.30	3.593481	0.66219	.	.	ENSG00000104320	ENST00000265433;ENST00000452387;ENST00000519426	D;D	0.86562	-2.14;-2.14	5.98	4.84	0.62591	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.407546	0.28871	N	0.013877	T	0.78874	0.4352	N	0.13098	0.295	0.80722	D	1	P;P	0.43938	0.822;0.822	P;P	0.45913	0.497;0.497	T	0.79181	-0.1909	10	0.52906	T	0.07	-13.3508	7.5589	0.27839	0.0:0.0707:0.1428:0.7865	.	36;36	A6H8Y5;O60934	.;NBN_HUMAN	A	36	ENSP00000265433:E36A;ENSP00000430983:E36A	ENSP00000265433:E36A	E	-	2	0	NBN	91064190	0.957000	0.32711	0.882000	0.34594	0.811000	0.45836	1.806000	0.38892	2.289000	0.77006	0.460000	0.39030	GAA		0.343	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3		NM_001024688		35	116	0	0	0	0.003755	0	35	116		
RGS22	26166	broad.mit.edu	37	8	101076156	101076156	+	Silent	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:101076156T>C	ENST00000360863.6	-	8	1034	c.840A>G	c.(838-840)gtA>gtG	p.V280V	RGS22_ENST00000523287.1_Silent_p.V99V|RGS22_ENST00000523437.1_Silent_p.V268V	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	280					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTGTAGAGATACAGACACCt	0.388																																						uc003yjb.1		NaN																	0				ovary(3)|skin(2)|breast(1)|central_nervous_system(1)	7						c.(838-840)GTA>GTG		regulator of G-protein signaling 22							92.0	95.0	94.0					8																	101076156		1832	4075	5907	SO:0001819	synonymous_variant	26166				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr8:101076156T>C	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.840A>G	8.37:g.101076156T>C						RGS22_uc003yja.1_Silent_p.V99V|RGS22_uc003yjc.1_Silent_p.V268V|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA	p.V280V	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)		8	1035	-			280					A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	c.840A>G	CCDS43758.1																																																																																				0.388	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1		NM_015668		14	248	0	0	0	0.001855	0	14	248		
PKHD1L1	93035	broad.mit.edu	37	8	110460573	110460573	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:110460573T>C	ENST00000378402.5	+	39	6082	c.5978T>C	c.(5977-5979)gTt>gCt	p.V1993A		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1993	IPT/TIG 12.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATGTCCACAGTTGTATTTGAG	0.408										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(5977-5979)GTT>GCT		fibrocystin L precursor							79.0	78.0	78.0					8																	110460573		1937	4159	6096	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110460573T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.5978T>C	8.37:g.110460573T>C	ENSP00000367655:p.Val1993Ala	HNSCC(38;0.096)					p.V1993A	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		39	6082	+			1993			Extracellular (Potential).|IPT/TIG 12.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.5978T>C	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	4.499	0.092489	0.08632	.	.	ENSG00000205038	ENST00000378402	T	0.76578	-1.03	5.63	-1.97	0.07503	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.985549	0.08288	N	0.968825	T	0.63546	0.2520	L	0.35487	1.065	0.09310	N	1	B	0.10296	0.003	B	0.20767	0.031	T	0.47433	-0.9118	10	0.08381	T	0.77	.	10.8477	0.46753	0.0:0.4429:0.0:0.5571	.	1993	Q86WI1	PKHL1_HUMAN	A	1993	ENSP00000367655:V1993A	ENSP00000367655:V1993A	V	+	2	0	PKHD1L1	110529749	0.003000	0.15002	0.007000	0.13788	0.246000	0.25737	0.696000	0.25541	-0.111000	0.12001	-1.055000	0.02315	GTT		0.408	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531		7	46	0	0	0	0.001984	0	7	46		
NDUFB9	4715	broad.mit.edu	37	8	125555358	125555358	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:125555358G>A	ENST00000276689.3	+	2	216	c.132G>A	c.(130-132)atG>atA	p.M44I	NDUFB9_ENST00000522532.1_Missense_Mutation_p.M44I|NDUFB9_ENST00000517367.1_Intron|NDUFB9_ENST00000518008.1_Missense_Mutation_p.M44I	NM_001278646.1|NM_005005.2	NP_001265575.1|NP_004996.1	Q9Y6M9	NDUB9_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa	44					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			CTTGTTTGATGAGAGCCCGGT	0.448																																						uc003yrg.3		NaN																	0				ovary(1)|skin(1)	2						c.(130-132)ATG>ATA		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						92.0	88.0	89.0					8																	125555358		2203	4300	6503	SO:0001583	missense	4715				mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr8:125555358G>A	AF044956	CCDS6352.1	8q24.13	2011-07-04	2002-08-29		ENSG00000147684	ENSG00000147684		"""LYR motif containing"", ""Mitochondrial respiratory chain complex / Complex I"""	7704	protein-coding gene	gene with protein product	"""complex I B22 subunit"""	601445	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9 (22kD, B22)"""			8661098	Standard	NM_005005		Approved	B22, UQOR22, LYRM3	uc003yrg.4	Q9Y6M9	OTTHUMG00000165054	ENST00000276689.3:c.132G>A	8.37:g.125555358G>A	ENSP00000276689:p.Met44Ile					NDUFB9_uc011lim.1_Missense_Mutation_p.M44I	p.M44I	NM_005005	NP_004996	Q9Y6M9	NDUB9_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	217	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		44					B2R8M6|Q9UQE8	Missense_Mutation	SNP	ENST00000276689.3	37	c.132G>A	CCDS6352.1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172234	0.38315	.	.	ENSG00000147684	ENST00000276689;ENST00000518008;ENST00000522532	T;T;T	0.60920	0.15;0.15;0.15	5.46	4.59	0.56863	.	0.456566	0.25750	N	0.028560	T	0.38295	0.1035	N	0.05158	-0.105	0.80722	D	1	B;B	0.17852	0.024;0.0	B;B	0.29353	0.101;0.001	T	0.15780	-1.0425	10	0.20519	T	0.43	-6.4974	14.0761	0.64891	0.0723:0.0:0.9277:0.0	.	44;44	E9PF49;Q9Y6M9	.;NDUB9_HUMAN	I	44	ENSP00000276689:M44I;ENSP00000428282:M44I;ENSP00000431115:M44I	ENSP00000276689:M44I	M	+	3	0	NDUFB9	125624539	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.600000	0.54052	1.308000	0.44962	0.655000	0.94253	ATG		0.448	NDUFB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381606.1		NM_005005		14	80	0	0	0	0.003163	0	14	80		
DENND3	22898	broad.mit.edu	37	8	142148141	142148141	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:142148141G>A	ENST00000262585.2	+	3	444	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	DENND3_ENST00000518347.1_Missense_Mutation_p.E136K|DENND3_ENST00000424248.1_Missense_Mutation_p.E56K|DENND3_ENST00000519811.1_Missense_Mutation_p.E136K	NM_014957.2	NP_055772.2	A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	56	UDENN.				cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGGCCACTGAACCTAAGGA	0.572																																						uc003yvy.2		NaN																	0				ovary(1)	1						c.(166-168)GAA>AAA		DENN/MADD domain containing 3							117.0	87.0	97.0					8																	142148141		2203	4300	6503	SO:0001583	missense	22898							g.chr8:142148141G>A	AB020677	CCDS34947.1	8q24.3	2013-01-10				ENSG00000105339		"""DENN/MADD domain containing"", ""WD repeat domain containing"""	29134	protein-coding gene	gene with protein product						10048485	Standard	NM_014957		Approved	KIAA0870	uc003yvy.3	A2RUS2		ENST00000262585.2:c.166G>A	8.37:g.142148141G>A	ENSP00000262585:p.Glu56Lys					DENND3_uc003yvw.1_Missense_Mutation_p.E69K|DENND3_uc003yvx.2_Missense_Mutation_p.E136K|DENND3_uc010mep.2_Missense_Mutation_p.E69K	p.E56K	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.105)		3	444	+	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		56			UDENN.		B7ZM28|O94947|Q2TAM7|Q6ZMS6|Q96DK3	Missense_Mutation	SNP	ENST00000262585.2	37	c.166G>A	CCDS34947.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998238	0.74818	.	.	ENSG00000105339	ENST00000519291;ENST00000518347;ENST00000262585;ENST00000424248;ENST00000519811;ENST00000520986;ENST00000523058	T;T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87;0.87	5.19	5.19	0.71726	uDENN (2);	0.096593	0.64402	D	0.000001	T	0.58104	0.2099	L	0.46157	1.445	0.46901	D	0.999241	P;P;D;D	0.76494	0.819;0.479;0.999;0.994	P;P;D;D	0.74348	0.581;0.462;0.983;0.926	T	0.52351	-0.8587	10	0.30078	T	0.28	-19.5107	18.7062	0.91639	0.0:0.0:1.0:0.0	.	136;56;136;136	E9PF32;A2RUS2;E5RHH2;E5RIR7	.;DEND3_HUMAN;.;.	K	69;136;56;56;136;136;136	ENSP00000430625:E69K;ENSP00000430695:E136K;ENSP00000262585:E56K;ENSP00000410594:E56K;ENSP00000428714:E136K;ENSP00000429780:E136K;ENSP00000430786:E136K	ENSP00000262585:E56K	E	+	1	0	DENND3	142217323	1.000000	0.71417	0.836000	0.33094	0.623000	0.37688	7.121000	0.77160	2.392000	0.81423	0.585000	0.79938	GAA		0.572	DENND3-201	KNOWN	basic|CCDS	protein_coding	protein_coding			NM_014957		5	19	0	0	0	0.001168	0	5	19		
RHPN1	114822	broad.mit.edu	37	8	144462009	144462009	+	Missense_Mutation	SNP	A	A	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:144462009A>G	ENST00000289013.6	+	9	1057	c.956A>G	c.(955-957)gAg>gGg	p.E319G		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	319	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GTGGCAGCCGAGTACAGGCTA	0.667																																						uc003yyb.2		NaN																	0				large_intestine(1)	1						c.(955-957)GAG>GGG		rhophilin 1							20.0	30.0	27.0					8																	144462009		2092	4182	6274	SO:0001583	missense	114822				signal transduction	intracellular		g.chr8:144462009A>G	AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.956A>G	8.37:g.144462009A>G	ENSP00000289013:p.Glu319Gly						p.E319G	NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)		9	1089	+	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		319			BRO1.		Q8TAV1|Q96PV9	Missense_Mutation	SNP	ENST00000289013.6	37	c.956A>G	CCDS47927.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.287540	0.23478	.	.	ENSG00000158106	ENST00000289013	T	0.18174	2.23	4.67	2.07	0.26955	.	0.205074	0.41001	D	0.000978	T	0.14570	0.0352	L	0.60455	1.87	0.38434	D	0.946525	B	0.33883	0.43	B	0.33454	0.164	T	0.07829	-1.0752	10	0.72032	D	0.01	-10.1981	3.6858	0.08327	0.4924:0.0:0.1176:0.3899	.	319	Q8TCX5-2	.	G	319	ENSP00000289013:E319G	ENSP00000289013:E319G	E	+	2	0	RHPN1	144533152	1.000000	0.71417	0.026000	0.17262	0.287000	0.27160	2.936000	0.48971	0.646000	0.30693	0.418000	0.28097	GAG		0.667	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381417.1				8	27	0	0	0	0.004482	0	8	27		
EEF1D	1936	broad.mit.edu	37	8	144668447	144668447	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:144668447C>T	ENST00000529272.1	-	3	531	c.131G>A	c.(130-132)aGc>aAc	p.S44N	EEF1D_ENST00000317198.6_Missense_Mutation_p.S44N|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.S410N|EEF1D_ENST00000395119.3_Missense_Mutation_p.S44N|EEF1D_ENST00000532741.1_Missense_Mutation_p.S460N|EEF1D_ENST00000442189.2_Missense_Mutation_p.S410N|EEF1D_ENST00000419152.2_Missense_Mutation_p.S44N|EEF1D_ENST00000528610.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000526838.1_Missense_Mutation_p.S44N			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	44				S -> T (in Ref. 1; CAA79716). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GAGGATCACGCTGGCGCCGTT	0.498																																						uc011lki.1		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(130-132)AGC>AAC		eukaryotic translation elongation factor 1 delta							24.0	23.0	24.0					8																	144668447		2203	4299	6502	SO:0001583	missense	1936				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity	g.chr8:144668447C>T	AK024550	CCDS6404.1, CCDS6405.1, CCDS47930.1, CCDS56559.1	8q24	2011-09-15			ENSG00000104529	ENSG00000104529			3211	protein-coding gene	gene with protein product		130592				8334168	Standard	NM_001960		Approved	EF-1D, FLJ20897	uc003yyt.3	P29692	OTTHUMG00000165191	ENST00000529272.1:c.131G>A	8.37:g.144668447C>T	ENSP00000434872:p.Ser44Asn					EEF1D_uc003yyp.1_Intron|EEF1D_uc003yyq.1_Missense_Mutation_p.S460N|EEF1D_uc011lkj.1_Missense_Mutation_p.S409N|EEF1D_uc003yyr.2_Missense_Mutation_p.S410N|EEF1D_uc003yyt.2_Missense_Mutation_p.S410N|EEF1D_uc011lkk.1_Missense_Mutation_p.S44N|EEF1D_uc003yys.2_Missense_Mutation_p.S44N|EEF1D_uc003yyv.2_Intron|EEF1D_uc003yyu.2_Missense_Mutation_p.S44N|EEF1D_uc011lkl.1_Missense_Mutation_p.S44N	p.S44N	NM_001130057	NP_001123529	P29692	EF1D_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		3	400	-	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)		44	S -> T (in Ref. 1; CAA79716).				B4DDU4|D3DWK3|E9PBQ9|Q4VBZ6|Q969J1|Q96I38	Missense_Mutation	SNP	ENST00000529272.1	37	c.131G>A	CCDS6405.1	.	.	.	.	.	.	.	.	.	.	C	8.441	0.850793	0.17034	.	.	ENSG00000104529	ENST00000419152;ENST00000532741;ENST00000526838;ENST00000442189;ENST00000395119;ENST00000529272;ENST00000423316;ENST00000317198;ENST00000337369;ENST00000534380;ENST00000533204;ENST00000530191;ENST00000531218;ENST00000533494;ENST00000530445;ENST00000529516;ENST00000533749;ENST00000526340	.	.	.	4.64	4.64	0.57946	.	0.300350	0.40728	N	0.001026	T	0.46541	0.1398	L	0.46885	1.475	0.44289	D	0.997155	B;P;B;B	0.48230	0.05;0.907;0.181;0.264	B;B;B;B	0.40940	0.038;0.344;0.054;0.119	T	0.42616	-0.9441	9	0.22706	T	0.39	.	16.8469	0.85983	0.0:1.0:0.0:0.0	.	44;410;44;460	E9PBQ9;D3DWK1;P29692;E9PRY8	.;.;EF1D_HUMAN;.	N	44;460;44;410;44;44;410;44;410;44;44;44;44;44;44;44;60;44	.	ENSP00000317399:S44N	S	-	2	0	EEF1D	144739590	1.000000	0.71417	0.998000	0.56505	0.015000	0.08874	4.392000	0.59659	2.299000	0.77371	0.561000	0.74099	AGC		0.498	EEF1D-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382592.2		NM_032378		13	18	0	0	0	0.00245	0	13	18		
TIGD5	84948	broad.mit.edu	37	8	144680461	144680461	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:144680461G>A	ENST00000504548.2	+	1	388	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000423316.2_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000528610.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000531621.1_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.A81T|EEF1D_ENST00000532400.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000526838.1_5'Flank	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	130	HTH CENPB-type. {ECO:0000255|PROSITE- ProRule:PRU00583}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	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)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGCCGTGTACGCCTGGTTCCT	0.701																																						uc003yyx.1		NaN																	0					0						c.(241-243)GCC>ACC		tigger transposable element derived 5							14.0	13.0	14.0					8																	144680461		2150	4241	6391	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144680461G>A	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.388G>A	8.37:g.144680461G>A	ENSP00000421489:p.Ala130Thr					EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	p.A81T	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	241	+	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)		130					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.241G>A	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	g	11.65	1.700625	0.30142	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.31510	1.51;1.49	4.4	-3.67	0.04476	Homeodomain-related (1);Pogo transposase / Cenp-B / PDC2, DNA-binding HTH domain (3);Homeodomain-like (1);	0.363232	0.17883	U	0.158783	T	0.12347	0.0300	N	0.14661	0.345	0.24368	N	0.994841	B	0.10296	0.003	B	0.12837	0.008	T	0.12426	-1.0548	10	0.30078	T	0.28	.	4.3568	0.11183	0.2952:0.0:0.3036:0.4013	.	81	Q53EQ6	TIGD5_HUMAN	T	130;81	ENSP00000421489:A130T;ENSP00000315906:A81T	ENSP00000315906:A81T	A	+	1	0	TIGD5	144751604	0.761000	0.28439	0.979000	0.43373	0.701000	0.40568	0.285000	0.18883	-0.502000	0.06596	0.165000	0.16767	GCC		0.701	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1		NM_032862		14	19	0	0	0	0.00499	0	14	19		
TONSL	4796	broad.mit.edu	37	8	145660258	145660258	+	Silent	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145660258C>T	ENST00000409379.3	-	20	3050	c.3021G>A	c.(3019-3021)gtG>gtA	p.V1007V	AC084125.4_ENST00000442850.1_RNA|AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1007					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						CCCACGAAGTCACCTCAGCCA	0.667																																						uc011llg.1		NaN																	0					0						c.(3019-3021)GTG>GTA		NF-kappa-B inhibitor-like protein 2							57.0	59.0	58.0					8																	145660258		2202	4300	6502	SO:0001819	synonymous_variant	4796				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity	g.chr8:145660258C>T		CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3021G>A	8.37:g.145660258C>T						uc011llh.1_5'Flank	p.V1007V	NM_013432	NP_038460	Q96HA7	TONSL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		20	3036	-	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1007					B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Silent	SNP	ENST00000409379.3	37	c.3021G>A	CCDS34968.2																																																																																				0.667	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329668.2		NM_013432		12	60	0	0	0	0.001368	0	12	60		
KIFC2	90990	broad.mit.edu	37	8	145697774	145697774	+	Silent	SNP	C	C	T	rs370114230		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145697774C>T	ENST00000301332.2	+	15	2015	c.1638C>T	c.(1636-1638)cgC>cgT	p.R546R	KIFC2_ENST00000531423.1_3'UTR|FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000301331.5_Intron	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	546	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CTCCCGAGCGCCTGGCCGTGA	0.662																																						uc003zcz.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1636-1638)CGC>CGT		kinesin family member C2		C		1,4399		0,1,2199	23.0	28.0	26.0		1638	-1.0	0.0	8		26	0,8590		0,0,4295	no	coding-synonymous	KIFC2	NM_145754.2		0,1,6494	TT,TC,CC		0.0,0.0227,0.0077		546/839	145697774	1,12989	2200	4295	6495	SO:0001819	synonymous_variant	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145697774C>T	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1638C>T	8.37:g.145697774C>T						KIFC2_uc003zda.2_5'Flank	p.R546R	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		15	1703	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		546			Kinesin-motor.		E9PHB2|Q96NN6	Silent	SNP	ENST00000301332.2	37	c.1638C>T	CCDS6427.1																																																																																				0.662	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2		NM_145754		18	42	0	0	0	0.00499	0	18	42		
MFSD3	113655	broad.mit.edu	37	8	145738372	145738372	+	IGR	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145738372C>T	ENST00000301327.4	+	0	1548				RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000428558.2_Silent_p.E871E	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCACAGGCCTCTCCCCACCCA	0.667																																						uc003zdj.2		NaN								N|F|S						osteosarcoma|skin basal and sqamous cell			0				breast(2)|lung(1)|skin(1)	4						c.(2611-2613)GAG>GAA	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	RecQ protein-like 4							15.0	18.0	17.0					8																	145738372		2000	4140	6140	SO:0001628	intergenic_variant	9401	RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome			DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145738372C>T		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177		8.37:g.145738372C>T							p.E871E	NM_004260	NP_004251	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		16	2645	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		871						Silent	SNP	ENST00000301327.4	37	c.2613G>A	CCDS6431.1																																																																																				0.667	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2		NM_138431		5	7	0	0	0	0.000602	0	5	7		
KIAA2026	158358	broad.mit.edu	37	9	6007547	6007547	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:6007547G>A	ENST00000399933.3	-	1	240	c.241C>T	c.(241-243)Cag>Tag	p.Q81*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.Q81*|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	81										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CGGTAGCCCTGCTGTAGCTCG	0.662																																						uc003zjq.3		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(241-243)CAG>TAG		hypothetical protein LOC158358							28.0	35.0	33.0					9																	6007547		2084	4213	6297	SO:0001587	stop_gained	158358							g.chr9:6007547G>A	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.241C>T	9.37:g.6007547G>A	ENSP00000382815:p.Gln81*						p.Q81*	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	1	457	-		Acute lymphoblastic leukemia(23;0.158)	81					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Nonsense_Mutation	SNP	ENST00000399933.3	37	c.241C>T		.	.	.	.	.	.	.	.	.	.	G	35	5.588502	0.96590	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	15.1706	0.72869	0.0:0.0:1.0:0.0	.	.	.	.	X	81	.	ENSP00000370870:Q81X	Q	-	1	0	KIAA2026	5997547	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.758000	0.91663	2.081000	0.62600	0.491000	0.48974	CAG		0.662	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2		NM_001017969		41	28	0	0	0	0.002222	0	41	28		
CDKN2A	1029	broad.mit.edu	37	9	21971209	21971209	+	Splice_Site	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:21971209T>A	ENST00000304494.5	-	2	421		c.e2-2		CDKN2A_ENST00000498628.2_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Splice_Site|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000361570.3_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						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.?(23)|p.0(1)|p.V28_V51del(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)		CATCATGACCTGCCAGAGAGA	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1340	Whole gene deletion(1316)|Unknown(23)|Deletion - In frame(1)	p.0?(1112)|p.?(19)|p.V28_V51del(1)	haematopoietic_and_lymphoid_tissue(277)|skin(168)|central_nervous_system(163)|lung(146)|urinary_tract(91)|bone(74)|soft_tissue(57)|upper_aerodigestive_tract(52)|pleura(51)|oesophagus(49)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|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	CS014762	CDKN2A	S		c.e2-1		cyclin-dependent kinase inhibitor 2A isoform 1							8.0	9.0	8.0					9																	21971209		2066	4135	6201	SO:0001630	splice_region_variant	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.chr9:21971209T>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.151-2A>T	9.37:g.21971209T>A		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_Splice_Site|CDKN2A_uc010miu.2_Splice_Site|CDKN2A_uc003zpl.2_Splice_Site_p.G106_splice	p.V51_splice	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	363	-		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)						A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	ENST00000304494.5	37	c.151_splice	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	T	15.20	2.762210	0.49468	.	.	ENSG00000147889	ENST00000361570;ENST00000304494;ENST00000530628;ENST00000446177	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.022	0.71637	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21961209	1.000000	0.71417	0.993000	0.49108	0.550000	0.35303	7.014000	0.76380	2.181000	0.69327	0.454000	0.30748	.		0.667	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1		NM_000077	Intron	12	12	0	0	0	0.00245	0	12	12		
DCAF12	25853	broad.mit.edu	37	9	34125208	34125208	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:34125208T>A	ENST00000361264.4	-	2	487	c.146A>T	c.(145-147)tAc>tTc	p.Y49F	DCAF12_ENST00000463286.1_5'UTR	NM_015397.3	NP_056212.1	Q5T6F0	DCA12_HUMAN	DDB1 and CUL4 associated factor 12	49					protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	11						GTTCTTCAAGTAGTATACTAA	0.463																																						uc003ztt.2		NaN																	0					0						c.(145-147)TAC>TTC		DDB1 and CUL4 associated factor 12							90.0	85.0	87.0					9																	34125208		2203	4300	6503	SO:0001583	missense	25853					centrosome|CUL4 RING ubiquitin ligase complex		g.chr9:34125208T>A	AB067479	CCDS6549.1	9p11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000198876	ENSG00000198876		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	19911	protein-coding gene	gene with protein product	"""cancer/testis antigen 102"""		"""KIAA1892"", ""WD repeat domain 40A"""	KIAA1892, WDR40A		11572484, 9110174	Standard	NM_015397		Approved	DKFZP434O125, MGC1058, CT102, TCC52	uc003ztt.2	Q5T6F0	OTTHUMG00000019806	ENST00000361264.4:c.146A>T	9.37:g.34125208T>A	ENSP00000355114:p.Tyr49Phe						p.Y49F	NM_015397	NP_056212	Q5T6F0	DCA12_HUMAN			2	488	-			49					A8KA70|D3DRL6|Q5T6E9|Q5T6F1|Q6P3V0|Q7L4F8|Q96PZ5|Q9NXA9|Q9UFJ1	Missense_Mutation	SNP	ENST00000361264.4	37	c.146A>T	CCDS6549.1	.	.	.	.	.	.	.	.	.	.	T	14.84	2.655952	0.47467	.	.	ENSG00000198876	ENST00000361264;ENST00000396990;ENST00000450964	T;T;T	0.61274	2.07;0.12;1.35	4.76	2.3	0.28687	.	0.314639	0.31612	N	0.007347	T	0.64461	0.2600	M	0.66297	2.02	0.43857	D	0.996453	D	0.63880	0.993	P	0.57776	0.827	T	0.60657	-0.7220	10	0.42905	T	0.14	-23.3144	7.8702	0.29561	0.1368:0.0:0.1434:0.7198	.	49	Q5T6F0	DCA12_HUMAN	F	49;31;28	ENSP00000355114:Y49F;ENSP00000380187:Y31F;ENSP00000415833:Y28F	ENSP00000355114:Y49F	Y	-	2	0	DCAF12	34115208	1.000000	0.71417	0.998000	0.56505	0.702000	0.40608	3.168000	0.50801	0.285000	0.22329	0.533000	0.62120	TAC		0.463	DCAF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052133.2		NM_015397		49	47	0	0	0	0.00361	0	49	47		
GNE	10020	broad.mit.edu	37	9	36276896	36276896	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:36276896G>A	ENST00000396594.3	-	1	157	c.46C>T	c.(46-48)Cct>Tct	p.P16S	GNE_ENST00000543356.2_Silent_p.D48D	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	0					carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CTTACATGAGGTCCTTGAAAG	0.408																																					GBM(184;106 2118 20004 35750 50727)	uc010mli.2		NaN																	0					0						c.(46-48)CCT>TCT		UDP-N-acetylglucosamine-2-epimerase/N-							129.0	112.0	117.0					9																	36276896		1568	3582	5150	SO:0001583	missense	10020				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity	g.chr9:36276896G>A	AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000396594.3:c.46C>T	9.37:g.36276896G>A	ENSP00000379839:p.Pro16Ser					CLTA_uc003zzf.1_Intron|GNE_uc010mlj.2_Silent_p.D48D	p.P16S	NM_001128227	NP_001121699	Q9Y223	GLCNE_HUMAN	STAD - Stomach adenocarcinoma(86;0.228)		1	146	-			Error:Variant_position_missing_in_Q9Y223_after_alignment					A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	ENST00000396594.3	37	c.46C>T	CCDS47965.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.380076	0.24944	.	.	ENSG00000159921	ENST00000396594	D	0.99578	-6.21	5.98	4.08	0.47627	.	.	.	.	.	D	0.98369	0.9458	.	.	.	0.80722	D	1	P	0.36909	0.573	B	0.32342	0.144	D	0.97247	0.9895	8	0.87932	D	0	0.0184	11.734	0.51755	0.0:0.0:0.6791:0.3209	.	16	Q9Y223-2	.	S	16	ENSP00000379839:P16S	ENSP00000379839:P16S	P	-	1	0	GNE	36266896	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	4.746000	0.62133	0.807000	0.34208	0.585000	0.79938	CCT		0.408	GNE-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401509.1		NM_005476		78	78	0	0	0	0.00361	0	78	78		
SHB	6461	broad.mit.edu	37	9	38016031	38016031	+	Missense_Mutation	SNP	T	T	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:38016031T>C	ENST00000377707.3	-	2	1380	c.815A>G	c.(814-816)tAt>tGt	p.Y272C	RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.Y272C|SHB_ENST00000377700.4_Missense_Mutation_p.Y272C	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	272	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CTGTGCCTCATAGGGCTCCAT	0.557																																						uc004aax.2		NaN																	0				central_nervous_system(2)|skin(1)	3						c.(814-816)TAT>TGT		Src homology 2 domain containing adaptor protein							199.0	201.0	200.0					9																	38016031		2017	4203	6220	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:38016031T>C		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.815A>G	9.37:g.38016031T>C	ENSP00000366936:p.Tyr272Cys						p.Y272C	NM_003028	NP_003019	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	2	1383	-		all_epithelial(88;0.122)	272			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.815A>G	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.100666	0.76983	.	.	ENSG00000107338	ENST00000377707;ENST00000377700	T	0.32272	1.46	5.86	5.86	0.93980	.	0.428219	0.19937	N	0.102731	T	0.50292	0.1607	L	0.52364	1.645	0.45704	D	0.998612	D	0.76494	0.999	D	0.77557	0.99	T	0.49670	-0.8915	10	0.87932	D	0	-14.0477	14.2061	0.65734	0.0:0.0:0.0:1.0	.	272	Q15464	SHB_HUMAN	C	272	ENSP00000366936:Y272C	ENSP00000366929:Y272C	Y	-	2	0	SHB	38006031	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.963000	0.56773	2.232000	0.73038	0.533000	0.62120	TAT		0.557	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1				164	143	0	0	0	0.00361	0	164	143		
C9orf3	84909	broad.mit.edu	37	9	97522147	97522147	+	Missense_Mutation	SNP	C	C	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:97522147C>A	ENST00000375315.2	+	1	82	c.82C>A	c.(82-84)Ctg>Atg	p.L28M	C9orf3_ENST00000277198.2_Missense_Mutation_p.L28M|C9orf3_ENST00000297979.5_Missense_Mutation_p.L28M	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	28					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCACTATGTACTGGATTTGGA	0.443																																						uc004ava.2		NaN																	0				ovary(1)	1						c.(82-84)CTG>ATG		aminopeptidase O							80.0	77.0	78.0					9																	97522147		2203	4300	6503	SO:0001583	missense	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522147C>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.82C>A	9.37:g.97522147C>A	ENSP00000364464:p.Leu28Met					C9orf3_uc011lui.1_RNA|C9orf3_uc004aux.1_Missense_Mutation_p.L28M|C9orf3_uc004auy.2_Missense_Mutation_p.L28M|C9orf3_uc004auz.1_Missense_Mutation_p.L28M	p.L28M	NM_032823	NP_116212	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	217	+			28					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	c.82C>A	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	C	14.47	2.543874	0.45280	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315	T;T;T	0.08282	3.11;3.11;3.11	4.84	2.84	0.33178	.	0.000000	0.56097	D	0.000036	T	0.22437	0.0541	M	0.70275	2.135	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;0.999;1.0	T	0.00695	-1.1606	10	0.87932	D	0	-10.4304	6.4659	0.21981	0.0:0.6865:0.0:0.3135	.	28;28;28;28	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	M	28	ENSP00000277198:L28M;ENSP00000297979:L28M;ENSP00000364464:L28M	ENSP00000277198:L28M	L	+	1	2	C9orf3	96561968	0.967000	0.33354	0.994000	0.49952	0.923000	0.55619	1.621000	0.36986	1.253000	0.44018	0.563000	0.77884	CTG		0.443	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_032823		28	62	1	0	6.32553e-13	0.004656	8.10459e-13	28	62		
EPB41L4B	54566	broad.mit.edu	37	9	112018495	112018495	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:112018495C>T	ENST00000374566.3	-	9	1367	c.850G>A	c.(850-852)Ggc>Agc	p.G284S	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.G284S	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	284	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)	structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TATTCACAGCCATCTCTTCCC	0.393																																						uc004bdz.1		NaN																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(850-852)GGC>AGC		erythrocyte membrane protein band 4.1 like 4B							106.0	103.0	104.0					9																	112018495		1925	4138	6063	SO:0001583	missense	54566					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	g.chr9:112018495C>T	AB032179	CCDS43859.1, CCDS43860.1	9q22.1-q22.3	2008-02-05			ENSG00000095203	ENSG00000095203			19818	protein-coding gene	gene with protein product		610340				10783258	Standard	NM_018424		Approved	EHM2	uc004bdz.1	Q9H329	OTTHUMG00000020470	ENST00000374566.3:c.850G>A	9.37:g.112018495C>T	ENSP00000363694:p.Gly284Ser					EPB41L4B_uc004bea.2_Missense_Mutation_p.G284S	p.G284S	NM_019114	NP_061987	Q9H329	E41LB_HUMAN			9	1145	-			284			FERM.		Q5T4G5|Q5T4G6|Q9H328|Q9P2V3	Missense_Mutation	SNP	ENST00000374566.3	37	c.850G>A	CCDS43859.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311884	0.95655	.	.	ENSG00000095203	ENST00000374566;ENST00000374557;ENST00000311609	D;D	0.84730	-1.89;-1.89	5.92	5.92	0.95590	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.40818	N	0.001002	D	0.91436	0.7297	M	0.66560	2.04	0.80722	D	1	D;P	0.55800	0.973;0.887	P;P	0.61940	0.771;0.896	D	0.91134	0.4940	10	0.66056	D	0.02	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	284;284	Q9H329-2;Q9H329	.;E41LB_HUMAN	S	284;284;206	ENSP00000363694:G284S;ENSP00000363685:G284S	ENSP00000311274:G206S	G	-	1	0	EPB41L4B	111058316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.822000	0.97130	0.650000	0.86243	GGC		0.393	EPB41L4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053592.1		NM_018424		79	51	0	0	0	0.00361	0	79	51		
CNTRL	11064	broad.mit.edu	37	9	123852674	123852674	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:123852674G>A	ENST00000373855.1	+	4	599	c.339G>A	c.(337-339)aaG>aaA	p.K113K	CNTRL_ENST00000373865.2_Silent_p.K113K|CNTRL_ENST00000238341.5_Silent_p.K113K			Q7Z7A1	CNTRL_HUMAN	centriolin	113					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACGGTGGCAAGAAATTTAAGG	0.313																																						uc004bkx.1		NaN																	0					0						c.(337-339)AAG>AAA		centrosomal protein 110kDa							75.0	80.0	79.0					9																	123852674		2203	4300	6503	SO:0001819	synonymous_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123852674G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.339G>A	9.37:g.123852674G>A						CEP110_uc004bkw.2_Silent_p.K113K	p.K113K	NM_007018	NP_008949	Q7Z7A1	CNTRL_HUMAN			2	370	+			113					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Silent	SNP	ENST00000373855.1	37	c.339G>A	CCDS35118.1																																																																																				0.313	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1		NM_007018		53	45	0	0	0	0.00361	0	53	45		
STKLD1	169436	broad.mit.edu	37	9	136269137	136269137	+	Missense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:136269137C>T	ENST00000371957.3	+	16	1804	c.1697C>T	c.(1696-1698)gCc>gTc	p.A566V	C9orf96_ENST00000371955.1_Missense_Mutation_p.A99V	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		566							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTGAACAATGCCTACCGGGGA	0.612											OREG0019586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004cdk.2		NaN																	0				stomach(2)|central_nervous_system(2)	4						c.(1696-1698)GCC>GTC		hypothetical protein LOC169436							50.0	51.0	50.0					9																	136269137		2203	4300	6503	SO:0001583	missense	169436						ATP binding|protein kinase activity	g.chr9:136269137C>T																												ENST00000371957.3:c.1697C>T	9.37:g.136269137C>T	ENSP00000361025:p.Ala566Val		OREG0019586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1624	C9orf96_uc004cdl.2_RNA	p.A566V	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)	16	1758	+			566					Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	37	c.1697C>T	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637934	0.67130	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.60299	0.22;0.2	5.12	4.21	0.49690	Armadillo-like helical (1);Armadillo-type fold (1);	0.292074	0.28736	N	0.014301	T	0.48409	0.1498	L	0.42245	1.32	0.27814	N	0.942037	D	0.53312	0.959	B	0.43623	0.425	T	0.53244	-0.8466	10	0.72032	D	0.01	-35.6494	8.3129	0.32082	0.0:0.6344:0.2819:0.0837	.	566	Q8NE28	SGK71_HUMAN	V	566;99	ENSP00000361025:A566V;ENSP00000361023:A99V	ENSP00000361023:A99V	A	+	2	0	C9orf96	135258958	0.198000	0.23374	0.998000	0.56505	0.709000	0.40893	0.721000	0.25911	2.349000	0.79799	0.555000	0.69702	GCC		0.612	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1				46	38	0	0	0	0.00361	0	46	38		
ACOT9	23597	broad.mit.edu	37	X	23748661	23748661	+	Missense_Mutation	SNP	T	T	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:23748661T>A	ENST00000336430.7	-	5	487	c.356A>T	c.(355-357)gAt>gTt	p.D119V	ACOT9_ENST00000379295.1_Missense_Mutation_p.D59V|ACOT9_ENST00000379303.5_Missense_Mutation_p.D128V|ACOT9_ENST00000492081.1_Missense_Mutation_p.D59V	NM_001033583.2	NP_001028755.2	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	119					acyl-CoA metabolic process (GO:0006637)	mitochondrion (GO:0005739)	acetyl-CoA hydrolase activity (GO:0003986)|carboxylic ester hydrolase activity (GO:0052689)			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						GCTGTCAAGATCCTCAAGAAT	0.348																																						uc004dap.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(355-357)GAT>GTT		acyl-Coenzyme A thioesterase 2, mitochondrial							84.0	76.0	79.0					X																	23748661		2203	4300	6503	SO:0001583	missense	23597				acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chrX:23748661T>A	AF132950	CCDS35216.1, CCDS43924.1	Xp22.11	2008-02-05			ENSG00000123130	ENSG00000123130		"""Acyl CoA thioesterases"""	17152	protein-coding gene	gene with protein product		300862				10383425, 10810093, 16103133, 16940157	Standard	XM_005274471		Approved	CGI-16, MT-ACT48, ACATE2	uc004dao.3	Q9Y305	OTTHUMG00000021257	ENST00000336430.7:c.356A>T	X.37:g.23748661T>A	ENSP00000336580:p.Asp119Val					ACOT9_uc004dao.2_Missense_Mutation_p.D128V|ACOT9_uc004daq.2_Missense_Mutation_p.D77V|ACOT9_uc004dar.2_Missense_Mutation_p.D59V|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Missense_Mutation_p.D59V|ACOT9_uc004dat.1_Missense_Mutation_p.D119V	p.D119V	NM_001033583	NP_001028755	Q9Y305	ACOT9_HUMAN			5	502	-			119					B3KNC9|B7ZM94	Missense_Mutation	SNP	ENST00000336430.7	37	c.356A>T	CCDS35216.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098461	0.76870	.	.	ENSG00000123130	ENST00000379303;ENST00000336430;ENST00000379295;ENST00000473710;ENST00000492081	T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.62925	0.2468	M	0.91510	3.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.998	T	0.68815	-0.5309	10	0.37606	T	0.19	-21.4959	14.3326	0.66566	0.0:0.0:0.0:1.0	.	86;119;128	Q9Y305-2;Q9Y305;Q9Y305-4	.;ACOT9_HUMAN;.	V	128;119;59;73;59	ENSP00000368605:D128V;ENSP00000336580:D119V;ENSP00000368597:D59V;ENSP00000420490:D73V;ENSP00000417778:D59V	ENSP00000336580:D119V	D	-	2	0	ACOT9	23658582	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	6.250000	0.72435	1.843000	0.53566	0.486000	0.48141	GAT		0.348	ACOT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056065.1		NM_012332		55	42	0	0	0	0.00361	0	55	42		
KDM6A	7403	broad.mit.edu	37	X	44922802	44922802	+	Nonsense_Mutation	SNP	C	C	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:44922802C>T	ENST00000377967.4	+	16	1704	c.1663C>T	c.(1663-1665)Cag>Tag	p.Q555*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q562*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q476*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q510*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	555	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)|p.Q555*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAGCGTCTCTCAGCCTGGAGT	0.567			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		10	Whole gene deletion(6)|Substitution - Nonsense(2)|No detectable mRNA/protein(2)		urinary_tract(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1663-1665)CAG>TAG		ubiquitously transcribed tetratricopeptide							97.0	65.0	76.0					X																	44922802		2203	4300	6503	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922802C>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1663C>T	X.37:g.44922802C>T	ENSP00000367203:p.Gln555*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.Q521*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.Q607*|KDM6A_uc011mla.1_Nonsense_Mutation_p.Q510*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.Q562*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.Q259*|KDM6A_uc011mld.1_Nonsense_Mutation_p.Q194*	p.Q555*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	2038	+			555					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.1663C>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	24.7|24.7	4.560972|4.560972	0.86335|0.86335	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000414389;ENST00000433797	.|T;T	.|0.23552	.|1.9;1.91	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.200761|.	0.44285|.	D|.	0.000466|.	.|T	.|0.47040	.|0.1424	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.57294	.|-0.7836	.|5	0.38643|0.62326	T|D	0.18|0.03	-5.3391|-5.3391	17.0783|17.0783	0.86591|0.86591	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	252;555;510;562;476;148|152;197	.|ENSP00000405910:S152L;ENSP00000398929:S197L	ENSP00000334340:Q252X|ENSP00000405910:S152L	Q|S	+|+	1|2	0|0	KDM6A|KDM6A	44807746|44807746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.859000|0.859000	0.49053|0.49053	7.160000|7.160000	0.77495|0.77495	2.039000|2.039000	0.60335|0.60335	0.509000|0.509000	0.49947|0.49947	CAG|TCA		0.567	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		15	20	0	0	0	0.004007	0	15	20		
ATRX	546	broad.mit.edu	37	X	76919036	76919036	+	Missense_Mutation	SNP	G	G	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:76919036G>C	ENST00000373344.5	-	12	4169	c.3955C>G	c.(3955-3957)Caa>Gaa	p.Q1319E	ATRX_ENST00000395603.3_Missense_Mutation_p.Q1281E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1319	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						GAATTGACTTGATTTTTTGCT	0.358			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															uc004ecp.3		NaN		Rec	yes		X	Xq21.1	546	Mis|F|N	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			Pancreatic neuroendocrine tumors		1	Unknown(1)		bone(1)	haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30						c.(3955-3957)CAA>GAA		transcriptional regulator ATRX isoform 1	Phosphatidylserine(DB00144)						51.0	43.0	46.0					X																	76919036		2202	4296	6498	SO:0001583	missense	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76919036G>C	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3955C>G	X.37:g.76919036G>C	ENSP00000362441:p.Gln1319Glu					ATRX_uc004ecq.3_Missense_Mutation_p.Q1281E|ATRX_uc004eco.3_Missense_Mutation_p.Q1104E|ATRX_uc004ecr.2_Missense_Mutation_p.Q1251E	p.Q1319E	NM_000489	NP_000480	P46100	ATRX_HUMAN			12	4187	-			1319					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	ENST00000373344.5	37	c.3955C>G	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	G	3.316	-0.139759	0.06669	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.91686	-2.88;-2.89	4.44	2.47	0.30058	.	0.442010	0.19359	U	0.116184	T	0.82015	0.4945	N	0.17474	0.49	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.71981	-0.4428	10	0.02654	T	1	-8.0288	13.0874	0.59149	0.0:0.6152:0.3848:0.0	.	1251;1281;1319	P46100-6;P46100-4;P46100	.;.;ATRX_HUMAN	E	1319;1281;1246	ENSP00000362441:Q1319E;ENSP00000378967:Q1281E	ENSP00000362441:Q1319E	Q	-	1	0	ATRX	76805692	1.000000	0.71417	0.413000	0.26509	0.342000	0.28953	1.241000	0.32743	0.779000	0.33543	0.600000	0.82982	CAA		0.358	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2		NM_000489		14	11	0	0	0	0.00245	0	14	11		
MID2	11043	broad.mit.edu	37	X	107169341	107169341	+	Missense_Mutation	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:107169341G>A	ENST00000262843.6	+	9	2163	c.1615G>A	c.(1615-1617)Gat>Aat	p.D539N	MID2_ENST00000443968.2_Missense_Mutation_p.D509N|RP6-191P20.4_ENST00000430140.1_RNA	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	539	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CTTTAAATTGGATCCCAAAAT	0.378																																						uc004enl.2		NaN																	0				ovary(1)	1						c.(1615-1617)GAT>AAT		midline 2 isoform 1							63.0	65.0	65.0					X																	107169341		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107169341G>A		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.1615G>A	X.37:g.107169341G>A	ENSP00000262843:p.Asp539Asn					MID2_uc004enk.2_Missense_Mutation_p.D509N	p.D539N	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN			9	2188	+			539			B30.2/SPRY.		A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.1615G>A	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	G	15.02	2.709869	0.48517	.	.	ENSG00000080561	ENST00000262843;ENST00000443968	T;T	0.70516	-0.49;-0.49	5.63	4.76	0.60689	Concanavalin A-like lectin/glucanase (1);Fibronectin, type III (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.000000	0.85682	D	0.000000	T	0.75421	0.3847	M	0.80508	2.5	0.80722	D	1	B;B	0.31910	0.064;0.346	B;B	0.39706	0.048;0.307	T	0.76184	-0.3052	10	0.72032	D	0.01	.	11.5792	0.50881	0.0886:0.0:0.9114:0.0	.	539;509	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	N	539;509	ENSP00000262843:D539N;ENSP00000413976:D509N	ENSP00000262843:D539N	D	+	1	0	MID2	107055997	1.000000	0.71417	0.971000	0.41717	0.984000	0.73092	7.658000	0.83755	1.132000	0.42129	0.600000	0.82982	GAT		0.378	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2		NM_012216		37	34	0	0	0	0.004289	0	37	34		
ZCCHC12	170261	broad.mit.edu	37	X	117959285	117959285	+	Silent	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:117959285G>A	ENST00000310164.2	+	4	585	c.78G>A	c.(76-78)ctG>ctA	p.L26L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	26					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ATTCCATGCTGAGGTCCCTGG	0.572																																						uc004equ.2		NaN																	0				ovary(1)	1						c.(76-78)CTG>CTA		zinc finger, CCHC domain containing 12							75.0	66.0	69.0					X																	117959285		2203	4300	6503	SO:0001819	synonymous_variant	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959285G>A	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.78G>A	X.37:g.117959285G>A							p.L26L	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			4	551	+			26					B3KV48|Q6PID5|Q8N1C1	Silent	SNP	ENST00000310164.2	37	c.78G>A	CCDS14574.1																																																																																				0.572	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1		NM_173798		45	28	0	0	0	0.002222	0	45	28		
PHF6	84295	broad.mit.edu	37	X	133511786	133511786	+	Splice_Site	SNP	G	G	A			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:133511786G>A	ENST00000332070.3	+	2	340		c.e2+1		PHF6_ENST00000370803.3_Splice_Site|PHF6_ENST00000416404.2_Splice_Site|PHF6_ENST00000370800.4_Splice_Site|PHF6_ENST00000394292.1_Splice_Site|PHF6_ENST00000370799.1_Splice_Site	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAAGTGCATGGTAAGTATACC	0.378			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	uc004exj.2		NaN		Rec	yes		X	Xq26.3	84295		PHD finger protein 6			L					0				ovary(1)	1						c.e2+1		PHD finger protein 6 isoform 1							80.0	74.0	76.0					X																	133511786		2203	4300	6503	SO:0001630	splice_region_variant	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133511786G>A	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.138+1G>A	X.37:g.133511786G>A						PHF6_uc004exk.2_Splice_Site_p.M46_splice|PHF6_uc011mvk.1_Splice_Site_p.M46_splice|PHF6_uc004exh.2_Splice_Site_p.M46_splice|PHF6_uc010nrr.2_Splice_Site_p.M46_splice|PHF6_uc004exi.2_Splice_Site_p.M46_splice	p.M46_splice	NM_001015877	NP_001015877	Q8IWS0	PHF6_HUMAN			2	340	+	Acute lymphoblastic leukemia(192;0.000127)							A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Splice_Site	SNP	ENST00000332070.3	37	c.138_splice	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022838	0.75275	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	.	.	.	5.78	5.78	0.91487	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0742	0.89422	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PHF6	133339452	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	9.420000	0.97426	2.577000	0.86979	0.544000	0.68410	.		0.378	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1		NM_032458	Intron	36	30	0	0	0	0.004878	0	36	30		
ZNF185	7739	broad.mit.edu	37	X	152128422	152128422	+	Missense_Mutation	SNP	G	G	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:152128422G>T	ENST00000370268.4	+	17	1623	c.1586G>T	c.(1585-1587)cGa>cTa	p.R529L	ZNF185_ENST00000324823.6_Missense_Mutation_p.R297L|ZNF185_ENST00000370270.2_Missense_Mutation_p.R561L|ZNF185_ENST00000535861.1_Missense_Mutation_p.R561L|ZNF185_ENST00000454925.1_Missense_Mutation_p.R167L|ZNF185_ENST00000318529.8_Missense_Mutation_p.R308L|ZNF185_ENST00000539731.1_Missense_Mutation_p.R532L|ZNF185_ENST00000318504.7_Missense_Mutation_p.R470L|ZNF185_ENST00000449285.2_Missense_Mutation_p.R530L			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	529						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TTCGTCAGACGAGAGAGCTGC	0.582																																						uc010ntv.1		NaN																	0				ovary(3)	3						c.(1585-1587)CGA>CTA		zinc finger protein 185							38.0	41.0	40.0					X																	152128422		2071	4184	6255	SO:0001583	missense	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152128422G>T	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.1586G>T	X.37:g.152128422G>T	ENSP00000359291:p.Arg529Leu					ZNF185_uc011myg.1_Missense_Mutation_p.R561L|ZNF185_uc011myh.1_Missense_Mutation_p.R532L|ZNF185_uc011myi.1_Missense_Mutation_p.R500L|ZNF185_uc011myj.1_Missense_Mutation_p.R470L|ZNF185_uc011myk.1_Missense_Mutation_p.R530L|ZNF185_uc004fgw.3_Missense_Mutation_p.R308L|ZNF185_uc004fgu.2_Missense_Mutation_p.R158L|ZNF185_uc004fgv.2_Missense_Mutation_p.R226L|ZNF185_uc004fgx.2_Missense_Mutation_p.R167L	p.R529L	NM_007150	NP_009081	O15231	ZN185_HUMAN			17	1623	+	Acute lymphoblastic leukemia(192;6.56e-05)		529					A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	Missense_Mutation	SNP	ENST00000370268.4	37	c.1586G>T	CCDS48184.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.233|0.233	-1.019183|-1.019183	0.02078|0.02078	.|.	.|.	ENSG00000147394|ENSG00000147394	ENST00000454925|ENST00000535861;ENST00000539731;ENST00000449285;ENST00000318504;ENST00000535156;ENST00000324823;ENST00000370268;ENST00000318529;ENST00000370270	.|T;T;T;T;T	.|0.39997	.|1.05;1.06;1.05;1.05;1.05	4.14|4.14	-6.5|-6.5	0.01884|0.01884	.|.	.|1.295090	.|0.05917	.|N	.|0.632765	.|T	.|0.13884	.|0.0336	N|N	0.04508|0.04508	-0.205|-0.205	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B;B;B;B	.|0.06786	.|0.001;0.001;0.0;0.001;0.001;0.001;0.001;0.001;0.001	.|B;B;B;B;B;B;B;B;B	.|0.10450	.|0.002;0.002;0.001;0.001;0.001;0.001;0.002;0.001;0.005	.|T	.|0.15723	.|-1.0427	.|10	.|0.14656	.|T	.|0.56	0.5918|0.5918	0.5632|0.5632	0.00683|0.00683	0.2566:0.274:0.2656:0.2038|0.2566:0.274:0.2656:0.2038	.|.	.|530;470;500;532;561;529;167;308;292	.|O15231-3;B8K2L9;B8K2M0;F5GZL4;F5GXF7;O15231;Q8N1R8;F8W8V7;O15231-2	.|.;.;.;.;.;ZN185_HUMAN;.;.;.	X|L	170|561;532;530;470;364;297;529;308;292	.|ENSP00000440847:R561L;ENSP00000444367:R532L;ENSP00000395228:R530L;ENSP00000312782:R470L;ENSP00000359291:R529L	.|ENSP00000312782:R470L	E|R	+|+	1|2	0|0	ZNF185|ZNF185	151879078|151879078	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.660000|-0.660000	0.05317|0.05317	-1.635000|-1.635000	0.01535|0.01535	-1.414000|-1.414000	0.01117|0.01117	GAG|CGA		0.582	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1		NM_007150		5	9	1	0	1.6384e-10	0.001984	2.08208e-10	5	9		
SUCO	51430	broad.mit.edu	37	1	172546905	172546905	+	Splice_Site	DEL	T	T	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr1:172546905delT	ENST00000263688.3	+	13	1505	c.1286delT	c.(1285-1287)gtt>gt	p.V429fs	SUCO_ENST00000608151.1_Splice_Site_p.V581fs|SUCO_ENST00000367723.4_Splice_Site_p.V580fs|SUCO_ENST00000610051.1_Splice_Site_p.V392fs	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	429	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ATTCTTTAGGTTGAGTTGCTA	0.289																																						uc001giq.3		NaN																	0				ovary(2)	2						c.(1285-1287)GTTfs		chromosome 1 open reading frame 9 protein							156.0	152.0	153.0					1																	172546905		2202	4298	6500	SO:0001630	splice_region_variant	51430				multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		g.chr1:172546905delT	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.1285-1T>-	1.37:g.172546905delT						C1orf9_uc010pmm.1_Frame_Shift_Del_p.V429fs|C1orf9_uc009wwd.2_Frame_Shift_Del_p.V385fs|C1orf9_uc010pmn.1_Frame_Shift_Del_p.V392fs|C1orf9_uc010pmo.1_RNA	p.V429fs	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)	13	1602	+		Breast(1374;0.212)	429			SUN.		B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Frame_Shift_Del	DEL	ENST00000263688.3	37	c.1286delT	CCDS1303.1																																																																																				0.289	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1		NM_016227	Frame_Shift_Del	24	79	NaN	NaN	NaN	NaN	NaN	24	79	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	858	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571																																						uc001iux.2		NaN																	0				ovary(4)	4						c.(2572-2577)AGCAGT>AGT		hypothetical protein LOC57608				16,121,147,3686		2,1,1,10,9,1,101,3,139,1718						-7.0	0.0			46	4,50,242,7744		0,0,1,3,0,0,50,8,225,3733	no	codingComplex	KIAA1462	NM_020848.2		2,1,2,13,9,1,151,11,364,5451	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.6816,7.1537,4.8293				20,171,389,11430				SO:0001651	inframe_deletion	57608							g.chr10:30316501_30316503delCTG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2574_2576delCAG	10.37:g.30316510_30316512delCTG	ENSP00000364526:p.Ser859del					KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_In_Frame_Del_p.720_721SS>S|KIAA1462_uc009xle.1_In_Frame_Del_p.858_859SS>S	p.858_859SS>S	NM_020848	NP_065899	Q9P266	K1462_HUMAN			2	2633_2635	-			858_859			Ser-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	In_Frame_Del	DEL	ENST00000375377.1	37	c.2574_2576delCAG	CCDS41500.1																																																																																				0.571	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1		NM_020848		11	193	NaN	NaN	NaN	NaN	NaN	11	193	---	---
ALOX5	240	broad.mit.edu	37	10	45920479	45920480	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:45920479_45920480insG	ENST00000374391.2	+	6	786_787	c.733_734insG	c.(733-735)ttgfs	p.L245fs	ALOX5_ENST00000542434.1_Frame_Shift_Ins_p.L245fs	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	245	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	CAACCCTGTGTTGATCCGGCGC	0.604																																						uc001jce.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(733-735)TTGfs		arachidonate 5-lipoxygenase	Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)																																			SO:0001589	frameshift_variant	240				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding	g.chr10:45920479_45920480insG	J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	Exception_encountered	10.37:g.45920479_45920480insG	ENSP00000363512:p.Leu245fs					ALOX5_uc009xmt.2_Frame_Shift_Ins_p.L245fs|ALOX5_uc010qfg.1_Frame_Shift_Ins_p.L245fs	p.L245fs	NM_000698	NP_000689	P09917	LOX5_HUMAN			6	832_833	+		Lung SC(717;0.0257)	245			Lipoxygenase.		B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Frame_Shift_Ins	INS	ENST00000374391.2	37	c.733_734insG	CCDS7212.1																																																																																				0.604	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047780.1				55	142	NaN	NaN	NaN	NaN	NaN	55	142	---	---
SLK	9748	broad.mit.edu	37	10	105727602	105727619	+	In_Frame_Del	DEL	TTGGGAGATTATAGGAGA	TTGGGAGATTATAGGAGA	-	rs149480041		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr10:105727602_105727619delTTGGGAGATTATAGGAGA	ENST00000369755.3	+	1	644_661	c.99_116delTTGGGAGATTATAGGAGA	c.(97-117)ttttgggagattataggagaa>tta	p.33_39FWEIIGE>L	SLK_ENST00000335753.4_In_Frame_Del_p.33_39FWEIIGE>L	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	33	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.E35D(1)		kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCGAAGACTTTTGGGAGATTATAGGAGAACTGGGCGAC	0.5																																					NSCLC(111;540 1651 1927 4474 17706)	uc001kxo.1		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(2)|stomach(2)|skin(2)|lung(1)|kidney(1)	8						c.(97-117)TTTTGGGAGATTATAGGAGAA>TTA		serine/threonine kinase 2																																				SO:0001651	inframe_deletion	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105727602_105727619delTTGGGAGATTATAGGAGA		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.99_116delTTGGGAGATTATAGGAGA	10.37:g.105727602_105727619delTTGGGAGATTATAGGAGA	ENSP00000358770:p.Phe33_Glu39delinsLeu					SLK_uc001kxp.1_In_Frame_Del_p.33_39FWEIIGE>L	p.33_39FWEIIGE>L	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	1	133_150	+		Colorectal(252;0.178)	33_39			Protein kinase.		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	In_Frame_Del	DEL	ENST00000369755.3	37	c.99_116delTTGGGAGATTATAGGAGA	CCDS7553.1																																																																																				0.500	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1		NM_014720		11	99	NaN	NaN	NaN	NaN	NaN	11	99	---	---
AMBRA1	55626	broad.mit.edu	37	11	46563668	46563677	+	Frame_Shift_Del	DEL	CTCCAGCCTG	CTCCAGCCTG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr11:46563668_46563677delCTCCAGCCTG	ENST00000458649.2	-	7	2308_2317	c.1890_1899delCAGGCTGGAG	c.(1888-1899)agcaggctggagfs	p.SRLE630fs	AMBRA1_ENST00000533727.1_Frame_Shift_Del_p.SRLE540fs|AMBRA1_ENST00000528950.1_Frame_Shift_Del_p.SRLE630fs|AMBRA1_ENST00000298834.3_Frame_Shift_Del_p.SRLE630fs|AMBRA1_ENST00000314845.3_Frame_Shift_Del_p.SRLE540fs|AMBRA1_ENST00000534300.1_Frame_Shift_Del_p.SRLE630fs|AMBRA1_ENST00000426438.1_Frame_Shift_Del_p.SRLE630fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	630	Ser-rich.				autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCTGCTCAACTCCAGCCTGCTGGAGCTGG	0.595																																						uc010rgu.1		NaN																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1888-1899)AGCAGGCTGGAGfs		activating molecule in beclin-1-regulated																																				SO:0001589	frameshift_variant	55626				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle		g.chr11:46563668_46563677delCTCCAGCCTG	AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1890_1899delCAGGCTGGAG	11.37:g.46563668_46563677delCTCCAGCCTG	ENSP00000415327:p.Ser630fs					AMBRA1_uc010rgt.1_Frame_Shift_Del_p.S196fs|AMBRA1_uc009ylc.1_Frame_Shift_Del_p.S630fs|AMBRA1_uc001ncu.1_Frame_Shift_Del_p.S540fs|AMBRA1_uc001ncv.2_Frame_Shift_Del_p.S540fs|AMBRA1_uc001ncw.2_Frame_Shift_Del_p.S540fs|AMBRA1_uc001ncx.2_Frame_Shift_Del_p.S630fs	p.S630fs	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN		GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)	7	2250_2259	-			630_633			Ser-rich.		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Frame_Shift_Del	DEL	ENST00000458649.2	37	c.1890_1899delCAGGCTGGAG																																																																																					0.595	AMBRA1-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000390103.1		NM_017749		7	64	NaN	NaN	NaN	NaN	NaN	7	64	---	---
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs397840789|rs201322413		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gaggcg>gcg	p.E38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.E38del|RP6-65G23.3_ENST00000557691.1_lincRNA|MAP3K9_ENST00000381250.4_In_Frame_Del_p.E38del	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773																																					GBM(114;411 1587 13539 28235 50070)	uc001xmm.2		NaN																	1	Deletion - In frame(1)		ovary(1)	stomach(2)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(112-117)GAGGCG>GCG		mitogen-activated protein kinase kinase kinase																																				SO:0001651	inframe_deletion	4293				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	g.chr14:71275774_71275776delCCT	AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.113_115delAGG	14.37:g.71275783_71275785delCCT	ENSP00000451612:p.Glu38del					MAP3K9_uc001xml.2_In_Frame_Del_p.E38del	p.E38del	NM_033141	NP_149132	P80192	M3K9_HUMAN		all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)	1	113_115	-			38			Ala-rich.|Poly-Glu.		A3KN85|Q0D2G7|Q6EH31|Q9H2N5	In_Frame_Del	DEL	ENST00000554752.2	37	c.113_115delAGG																																																																																					0.773	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2				3	3	NaN	NaN	NaN	NaN	NaN	3	3	---	---
PSEN1	5663	broad.mit.edu	37	14	73659343	73659369	+	Splice_Site	DEL	TTTTTTCAGGGAAGTGTTTAAAACCTA	TTTTTTCAGGGAAGTGTTTAAAACCTA	-	rs556147068|rs368908264|rs63750311		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:73659343_73659369delTTTTTTCAGGGAAGTGTTTAAAACCTA	ENST00000324501.5	+	7	820_838	c.548_566delTTTTTTCAGGGAAGTGTTTAAAACCTA	c.(547-567)gttttttcagggaagtgttta>ga	p.VFSGKCL183del	PSEN1_ENST00000357710.4_Splice_Site_p.VFSGKCL179del|PSEN1_ENST00000557511.1_Splice_Site_p.VFSGKCL183del|PSEN1_ENST00000344094.3_Splice_Site_p.VFSGKCL183del|PSEN1_ENST00000261970.3_Splice_Site_p.VFSGKCL183del|PSEN1_ENST00000394164.1_Splice_Site_p.VFSGKCL179del|PSEN1_ENST00000406768.1_Splice_Site_p.VFSGKCL91del	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	183					activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTGTGTAATTTTTTTTCAGGGAAGTGTTTAAAACCTATAACGTTGCT	0.352																																						uc001xnr.2		NaN																	0				breast(1)|kidney(1)	2	GRCh37	CM972856	PSEN1	M	rs63750311	c.e7-1		presenilin 1 isoform I-467																																				SO:0001630	splice_region_variant	5663				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding	g.chr14:73659343_73659369delTTTTTTCAGGGAAGTGTTTAAAACCTA	AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.549-1TTTTTTCAGGGAAGTGTTTAAAACCTA>-	14.37:g.73659343_73659369delTTTTTTCAGGGAAGTGTTTAAAACCTA						PSEN1_uc001xnv.2_Splice_Site_p.G179_splice|PSEN1_uc010ark.2_Splice_Site_p.G179_splice|PSEN1_uc001xnt.1_Splice_Site|PSEN1_uc001xnu.2_Splice_Site	p.G183_splice	NM_000021	NP_000012	P49768	PSN1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)	7	833	+								B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Splice_Site	DEL	ENST00000324501.5	37	c.549_splice	CCDS9812.1																																																																																				0.352	PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2			In_Frame_Del	14	100	NaN	NaN	NaN	NaN	NaN	14	100	---	---
ENTPD5	957	broad.mit.edu	37	14	74438590	74438590	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr14:74438590delA	ENST00000334696.6	-	14	1368	c.1049delT	c.(1048-1050)ttafs	p.L350fs	ENTPD5_ENST00000557325.1_Frame_Shift_Del_p.L350fs	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	350					'de novo' posttranslational protein folding (GO:0051084)|ATP metabolic process (GO:0046034)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|positive regulation of glycolytic process (GO:0045821)|protein N-linked glycosylation (GO:0006487)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	guanosine-diphosphatase activity (GO:0004382)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TTCAACTTTTAAAATACCCCC	0.378																																						uc010tuo.1		NaN																	0				ovary(1)	1						c.(1048-1050)TTAfs		ectonucleoside triphosphate diphosphohydrolase 5							132.0	139.0	137.0					14																	74438590		2203	4300	6503	SO:0001589	frameshift_variant	957				'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity	g.chr14:74438590delA	AF039918	CCDS9825.1	14q24	2003-10-03	2003-10-03			ENSG00000187097			3367	protein-coding gene	gene with protein product		603162	"""proto-oncogene CPH"""	CD39L4, PCPH		9271669, 9676430	Standard	NM_001249		Approved	NTPDase-5	uc010tuo.2	O75356		ENST00000334696.6:c.1049delT	14.37:g.74438590delA	ENSP00000335246:p.Leu350fs					ENTPD5_uc001xpi.2_Frame_Shift_Del_p.L350fs	p.L350fs	NM_001249	NP_001240	O75356	ENTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)	14	1360	-			350					A1L4C5|Q96RX0	Frame_Shift_Del	DEL	ENST00000334696.6	37	c.1049delT	CCDS9825.1																																																																																				0.378	ENTPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412637.1		NM_001249		64	215	NaN	NaN	NaN	NaN	NaN	64	215	---	---
THAP10	56906	broad.mit.edu	37	15	71174825	71174843	+	Frame_Shift_Del	DEL	TATAAGACAAATCACTCTG	TATAAGACAAATCACTCTG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr15:71174825_71174843delTATAAGACAAATCACTCTG	ENST00000249861.4	-	3	1236_1254	c.724_742delCAGAGTGATTTGTCTTATA	c.(724-744)cagagtgatttgtcttatatgfs	p.QSDLSYM242fs	LRRC49_ENST00000544974.2_Intron	NM_020147.3	NP_064532.1	Q9P2Z0	THA10_HUMAN	THAP domain containing 10	242							DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y247F(1)		NS(1)|kidney(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGTACAGCCATATAAGACAAATCACTCTGTTCACTCTTG	0.356																																						uc002asv.2		NaN																	1	Substitution - Missense(1)		NS(1)	ovary(1)|skin(1)	2						c.(724-744)CAGAGTGATTTGTCTTATATGfs		THAP domain containing 10																																				SO:0001589	frameshift_variant	56906						DNA binding|metal ion binding	g.chr15:71174825_71174843delTATAAGACAAATCACTCTG	AL360202	CCDS10237.1	15q22.32	2013-01-25			ENSG00000129028	ENSG00000129028		"""THAP (C2CH-type zinc finger) domain containing"""	23193	protein-coding gene	gene with protein product		612538				12575992	Standard	NM_020147		Approved		uc002asv.3	Q9P2Z0	OTTHUMG00000133388	ENST00000249861.4:c.724_742delCAGAGTGATTTGTCTTATA	15.37:g.71174825_71174843delTATAAGACAAATCACTCTG	ENSP00000249861:p.Gln242fs					LRRC49_uc002asu.2_Intron	p.Q242fs	NM_020147	NP_064532	Q9P2Z0	THA10_HUMAN			3	866_884	-			242_248					B2R8R0	Frame_Shift_Del	DEL	ENST00000249861.4	37	c.724_742delCAGAGTGATTTGTCTTATA	CCDS10237.1																																																																																				0.356	THAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257242.2		NM_020147		7	190	NaN	NaN	NaN	NaN	NaN	7	190	---	---
ATAD5	79915	broad.mit.edu	37	17	29220513	29220513	+	Frame_Shift_Del	DEL	G	G	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:29220513delG	ENST00000321990.4	+	21	5020	c.4642delG	c.(4642-4644)gctfs	p.A1548fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1548					cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAATTGTCTTGCTAGGAAACA	0.363																																						uc002hfs.1		NaN																	0				ovary(3)	3						c.(4642-4644)GCTfs		ATPase family, AAA domain containing 5							46.0	53.0	51.0					17																	29220513		2201	4297	6498	SO:0001589	frameshift_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29220513delG		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.4642delG	17.37:g.29220513delG	ENSP00000313171:p.Ala1548fs						p.A1548fs	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN			21	4988	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	1548					Q05DH0|Q69YR6|Q9H9I1	Frame_Shift_Del	DEL	ENST00000321990.4	37	c.4642delG	CCDS11260.1																																																																																				0.363	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2		NM_024857		32	91	NaN	NaN	NaN	NaN	NaN	32	91	---	---
TOP2A	7153	broad.mit.edu	37	17	38564250	38564251	+	Frame_Shift_Ins	INS	-	-	T			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr17:38564250_38564251insT	ENST00000423485.1	-	12	1626_1627	c.1468_1469insA	c.(1468-1470)atafs	p.I490fs		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	490	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACATTGAGTATTTTTCCTCTA	0.371																																						uc002huq.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1468-1470)ATAfs		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)																																			SO:0001589	frameshift_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38564250_38564251insT		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1469dupA	17.37:g.38564255_38564255dupT	ENSP00000411532:p.Ile490fs					TOP2A_uc002hur.1_Frame_Shift_Ins_p.I131fs	p.I490fs	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		12	1594_1595	-		Breast(137;0.00328)	490					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Frame_Shift_Ins	INS	ENST00000423485.1	37	c.1468_1469insA	CCDS45672.1																																																																																				0.371	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1				54	216	NaN	NaN	NaN	NaN	NaN	54	216	---	---
MBD1	4152	broad.mit.edu	37	18	47800609	47800626	+	In_Frame_Del	DEL	TGCCCCCGAATTTGGGCT	TGCCCCCGAATTTGGGCT	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr18:47800609_47800626delTGCCCCCGAATTTGGGCT	ENST00000591416.1	-	11	1507_1524	c.1076_1093delAGCCCAAATTCGGGGGCA	c.(1075-1095)aagcccaaattcgggggcagc>agc	p.KPKFGG359del	MBD1_ENST00000587605.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000269468.5_In_Frame_Del_p.KPKFGG359del|MBD1_ENST00000585672.1_In_Frame_Del_p.KPKFGG309del|MBD1_ENST00000353909.3_In_Frame_Del_p.KPKFGG310del|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000339998.6_In_Frame_Del_p.KPKFGG359del|MBD1_ENST00000591535.1_In_Frame_Del_p.KPKFGG336del|MBD1_ENST00000424334.2_In_Frame_Del_p.KPKFGG410del|MBD1_ENST00000398488.1_Intron|MBD1_ENST00000269471.5_In_Frame_Del_p.KPKFGG336del|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000457839.2_In_Frame_Del_p.KPKFGG384del|MBD1_ENST00000382948.5_In_Frame_Del_p.KPKFGG359del|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000436910.1_In_Frame_Del_p.KPKFGG336del|MBD1_ENST00000585595.1_In_Frame_Del_p.KPKFGG384del|MBD1_ENST00000588937.1_In_Frame_Del_p.KPKFGG336del|MBD1_ENST00000590208.1_In_Frame_Del_p.KPKFGG359del			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	359					negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.G363R(2)|p.G364C(2)|p.G389C(1)|p.G341C(1)|p.G388R(1)|p.G340R(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						TTCTGGTTGCTGCCCCCGAATTTGGGCTTGTCGCAGCA	0.651																																						uc010dow.1		NaN																	8	Substitution - Missense(8)		lung(4)|breast(4)	ovary(1)|central_nervous_system(1)	2						c.(1075-1095)AAGCCCAAATTCGGGGGCAGC>AGC		methyl-CpG binding domain protein 1 isoform 1																																				SO:0001651	inframe_deletion	4152				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr18:47800609_47800626delTGCCCCCGAATTTGGGCT	Y10746	CCDS11941.1, CCDS11942.1, CCDS11943.1, CCDS11944.1, CCDS32832.1, CCDS56071.1, CCDS56072.1, CCDS56073.1, CCDS59318.1, CCDS59319.1, CCDS59320.1	18q21	2014-02-18			ENSG00000141644	ENSG00000141644			6916	protein-coding gene	gene with protein product		156535				9207790, 10441743	Standard	NM_015844		Approved	PCM1, CXXC3	uc002lem.4	Q9UIS9	OTTHUMG00000132669	ENST00000591416.1:c.1076_1093delAGCCCAAATTCGGGGGCA	18.37:g.47800609_47800626delTGCCCCCGAATTTGGGCT	ENSP00000467017:p.Lys359_Gly364del					MBD1_uc002lef.2_Intron|MBD1_uc002leg.2_In_Frame_Del_p.KPKFGG309del|MBD1_uc010xdi.1_In_Frame_Del_p.KPKFGG410del|MBD1_uc002leh.3_Intron|MBD1_uc002len.2_In_Frame_Del_p.KPKFGG359del|MBD1_uc002lei.3_In_Frame_Del_p.KPKFGG359del|MBD1_uc002lej.3_Intron|MBD1_uc002lek.3_In_Frame_Del_p.KPKFGG310del|MBD1_uc002lel.3_In_Frame_Del_p.KPKFGG336del|MBD1_uc002lem.3_In_Frame_Del_p.KPKFGG359del|MBD1_uc010xdj.1_Intron|MBD1_uc010xdk.1_In_Frame_Del_p.KPKFGG384del|MBD1_uc010dox.1_In_Frame_Del_p.KPKFGG336del|MBD1_uc002leo.2_In_Frame_Del_p.KPKFGG359del	p.KPKFGG359del	NM_015846	NP_056671	Q9UIS9	MBD1_HUMAN			11	1513_1530	-			359_364			CXXC-type 3.		A4UTZ0|B4DXJ5|E9PEC5|K7ELI2|K7EQZ4|K7ESN0|O15248|O95241|Q7Z7B5|Q8N4W4|Q9UNZ6|Q9UNZ7|Q9UNZ8|Q9UNZ9	In_Frame_Del	DEL	ENST00000591416.1	37	c.1076_1093delAGCCCAAATTCGGGGGCA	CCDS11943.1																																																																																				0.651	MBD1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255926.3		NM_015846		24	137	NaN	NaN	NaN	NaN	NaN	24	137	---	---
SLC20A1	6574	broad.mit.edu	37	2	113404397	113404433	+	Start_Codon_Del	DEL	CTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG	CTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr2:113404397_113404433delCTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG	ENST00000272542.3	+	0	531_567				AC079922.3_ENST00000457336.1_lincRNA	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1						ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	high-affinity inorganic phosphate:sodium symporter activity (GO:0005316)|inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|sodium:phosphate symporter activity (GO:0005436)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						ACAACCACTACTCCAGAGAATGGCAACGCTGATTACCAGTACTACAGCTGCTACCGC	0.409																																						uc002tib.2		NaN																	0				ovary(2)	2								solute carrier family 20 (phosphate																																				SO:0001582	initiator_codon_variant	6574				phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity	g.chr2:113404397_113404433delCTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG		CCDS2099.1	2q13	2013-05-22			ENSG00000144136	ENSG00000144136		"""Solute carriers"""	10946	protein-coding gene	gene with protein product	"""gibbon ape leukemia virus receptor 1"""	137570		GLVR1		8041748	Standard	NM_005415		Approved	PiT-1, Glvr-1	uc002tib.3	Q8WUM9	OTTHUMG00000131317		2.37:g.113404397_113404433delCTCCAGAGAATGGCAACGCTGATTACCAGTACTACAG						uc010fkq.1_5'Flank		NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN			2		+								Q08344|Q6DHX8|Q9UQ82	Translation_Start_Site	DEL	ENST00000272542.3	37		CCDS2099.1																																																																																				0.409	SLC20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254086.2		NM_005415		9	53	NaN	NaN	NaN	NaN	NaN	9	53	---	---
KIF3B	9371	broad.mit.edu	37	20	30898454	30898483	+	In_Frame_Del	DEL	TATCGGGACTCAAAGCTTACCAGGCTCCTC	TATCGGGACTCAAAGCTTACCAGGCTCCTC	-	rs566603856|rs372761748		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:30898454_30898483delTATCGGGACTCAAAGCTTACCAGGCTCCTC	ENST00000375712.3	+	2	1041_1070	c.874_903delTATCGGGACTCAAAGCTTACCAGGCTCCTC	c.(874-903)tatcgggactcaaagcttaccaggctcctcdel	p.YRDSKLTRLL292del	KIF3B_ENST00000418717.2_5'UTR	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	292	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCACATTCCATATCGGGACTCAAAGCTTACCAGGCTCCTCCAAGATTCCC	0.509																																						uc002wxq.2		NaN																	0				central_nervous_system(3)|ovary(2)	5						c.(874-903)TATCGGGACTCAAAGCTTACCAGGCTCCTCdel		kinesin family member 3B																																				SO:0001651	inframe_deletion	9371				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding	g.chr20:30898454_30898483delTATCGGGACTCAAAGCTTACCAGGCTCCTC	AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.874_903delTATCGGGACTCAAAGCTTACCAGGCTCCTC	20.37:g.30898454_30898483delTATCGGGACTCAAAGCTTACCAGGCTCCTC	ENSP00000364864:p.Tyr292_Leu301del					KIF3B_uc010ztv.1_In_Frame_Del_p.YRDSKLTRLL292del|KIF3B_uc010ztw.1_In_Frame_Del_p.YRDSKLTRLL292del	p.YRDSKLTRLL292del	NM_004798	NP_004789	O15066	KIF3B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		2	1041_1070	+			292_301			Kinesin-motor.		B2RMP4|B4DSR5|E1P5M5	In_Frame_Del	DEL	ENST00000375712.3	37	c.874_903delTATCGGGACTCAAAGCTTACCAGGCTCCTC	CCDS13200.1																																																																																				0.509	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1		NM_004798		8	62	NaN	NaN	NaN	NaN	NaN	8	62	---	---
ITCH	83737	broad.mit.edu	37	20	33057885	33057897	+	Frame_Shift_Del	DEL	ACTTCAAAGCAAA	ACTTCAAAGCAAA	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:33057885_33057897delACTTCAAAGCAAA	ENST00000262650.6	+	16	1716_1728	c.1580_1592delACTTCAAAGCAAA	c.(1579-1593)gacttcaaagcaaagfs	p.DFKAK527fs	ITCH_ENST00000374864.4_Frame_Shift_Del_p.DFKAK486fs|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000535650.1_Frame_Shift_Del_p.DFKAK376fs			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	527					apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TATGTTCGGGACTTCAAAGCAAAGGTTCAGTAT	0.399																																						uc010geu.1		NaN																	0				breast(4)|lung(1)|central_nervous_system(1)	6						c.(1579-1593)GACTTCAAAGCAAAGfs		itchy homolog E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	83737				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity	g.chr20:33057885_33057897delACTTCAAAGCAAA	AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.1580_1592delACTTCAAAGCAAA	20.37:g.33057885_33057897delACTTCAAAGCAAA	ENSP00000262650:p.Asp527fs					ITCH_uc002xak.2_Frame_Shift_Del_p.D486fs|ITCH_uc010zuj.1_Frame_Shift_Del_p.D376fs	p.D527fs	NM_031483	NP_113671	Q96J02	ITCH_HUMAN			16	1772_1784	+			527_531					A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Frame_Shift_Del	DEL	ENST00000262650.6	37	c.1580_1592delACTTCAAAGCAAA	CCDS58768.1																																																																																				0.399	ITCH-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078783.2				49	308	NaN	NaN	NaN	NaN	NaN	49	308	---	---
C20orf195	79025	broad.mit.edu	37	20	62187700	62187708	+	In_Frame_Del	DEL	GTTCGTCAC	GTTCGTCAC	-	rs372269895|rs150942473	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr20:62187700_62187708delGTTCGTCAC	ENST00000370098.3	+	2	776_784	c.684_692delGTTCGTCAC	c.(682-693)tggttcgtcacc>tgc	p.228_231WFVT>C	C20orf195_ENST00000370097.1_In_Frame_Del_p.228_231WFVT>C	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	228	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular vesicular exosome (GO:0070062)		p.V230V(1)		large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GGCTGCGCTGGTTCGTCACCATCCAGCCA	0.641																																						uc002yfj.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(682-693)TGGTTCGTCACC>TGC		hypothetical protein LOC79025																																				SO:0001651	inframe_deletion	79025							g.chr20:62187700_62187708delGTTCGTCAC		CCDS13526.1	20q13.33	2014-02-12			ENSG00000125531	ENSG00000125531			28764	protein-coding gene	gene with protein product						12477932	Standard	NM_024059		Approved	MGC5356	uc002yfj.3	Q9BVV2	OTTHUMG00000032980	ENST00000370098.3:c.684_692delGTTCGTCAC	20.37:g.62187700_62187708delGTTCGTCAC	ENSP00000359116:p.Trp228_Thr231delinsCys					C20orf195_uc002yfk.2_In_Frame_Del_p.228_231WFVT>C	p.228_231WFVT>C	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		2	776_784	+	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		228_231						In_Frame_Del	DEL	ENST00000370098.3	37	c.684_692delGTTCGTCAC	CCDS13526.1																																																																																				0.641	C20orf195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080155.1		NM_024059		53	200	NaN	NaN	NaN	NaN	NaN	53	200	---	---
TGFBR2	7048	broad.mit.edu	37	3	30713456	30713457	+	Frame_Shift_Ins	INS	-	-	C			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:30713456_30713457insC	ENST00000295754.5	+	4	1163_1164	c.781_782insC	c.(781-783)gccfs	p.A261fs	TGFBR2_ENST00000359013.4_Frame_Shift_Ins_p.A286fs	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGTCTATAAGGCCAAGCTGAAG	0.515																																						uc003ceo.2		NaN																	0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26						c.(781-783)GCCfs		transforming growth factor, beta receptor II																																				SO:0001589	frameshift_variant	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30713456_30713457insC		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.783dupC	3.37:g.30713458_30713458dupC	ENSP00000295754:p.Ala261fs					TGFBR2_uc003cen.2_Frame_Shift_Ins_p.A286fs	p.A261fs	NM_003242	NP_003233	P37173	TGFR2_HUMAN			4	1163_1164	+			261			Protein kinase.|Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Frame_Shift_Ins	INS	ENST00000295754.5	37	c.781_782insC	CCDS2648.1																																																																																				0.515	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2				50	62	NaN	NaN	NaN	NaN	NaN	50	62	---	---
DNAH1	25981	broad.mit.edu	37	3	52433606	52433607	+	Frame_Shift_Ins	INS	-	-	GGTGC			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:52433606_52433607insGGTGC	ENST00000420323.2	+	77	12748_12749	c.12487_12488insGGTGC	c.(12487-12489)gggfs	p.-4164fs		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACCCCAAGTAGGGTGCTATATC	0.525																																						uc011bef.1		NaN																	0				large_intestine(3)	3						c.(12487-12489)GGGfs		dynein, axonemal, heavy chain 1																																				SO:0001589	frameshift_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52433606_52433607insGGTGC	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12488_12492dupGGTGC	3.37:g.52433607_52433611dupGGTGC	ENSP00000401514:p.Cys4164fs					DNAH1_uc003ddv.2_Intron	p.G4163fs	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	77	12748_12749	+			4228					B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Frame_Shift_Ins	INS	ENST00000420323.2	37	c.12487_12488insGGTGC	CCDS46842.1																																																																																				0.525	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512		7	39	NaN	NaN	NaN	NaN	NaN	7	39	---	---
ZDHHC19	131540	broad.mit.edu	37	3	195935333	195935355	+	Frame_Shift_Del	DEL	GCCCGAGTAGAGGCACAGGGACA	GCCCGAGTAGAGGCACAGGGACA	-	rs375374030|rs75505676|rs544224608	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr3:195935333_195935355delGCCCGAGTAGAGGCACAGGGACA	ENST00000296326.3	-	4	564_586	c.485_507delTGTCCCTGTGCCTCTACTCGGGC	c.(484-507)ctgtccctgtgcctctactcgggcfs	p.LSLCLYSG162fs	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	162						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.S168S(1)		breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CCAGCATGGCGCCCGAGTAGAGGCACAGGGACAGGACAAGCAG	0.61																																						uc003fwc.2		NaN																	1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(484-507)CTGTCCCTGTGCCTCTACTCGGGCfs		zinc finger, DHHC domain containing 19																																				SO:0001589	frameshift_variant	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195935333_195935355delGCCCGAGTAGAGGCACAGGGACA	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.485_507delTGTCCCTGTGCCTCTACTCGGGC	3.37:g.195935333_195935355delGCCCGAGTAGAGGCACAGGGACA	ENSP00000296326:p.Leu162fs					ZDHHC19_uc010hzz.2_RNA|ZDHHC19_uc010iaa.2_RNA|ZDHHC19_uc010iab.2_RNA	p.L162fs	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	4	599_621	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		162_169			Helical; (Potential).		A8MSY6|B3KVI1	Frame_Shift_Del	DEL	ENST00000296326.3	37	c.485_507delTGTCCCTGTGCCTCTACTCGGGC	CCDS43190.1																																																																																				0.610	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1		NM_144637		20	40	NaN	NaN	NaN	NaN	NaN	20	40	---	---
NOA1	84273	broad.mit.edu	37	4	57842717	57842743	+	In_Frame_Del	DEL	GCCCACTAAGTAGACGTCCCCACGGTA	GCCCACTAAGTAGACGTCCCCACGGTA	-	rs533666115|rs145154138	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:57842717_57842743delGCCCACTAAGTAGACGTCCCCACGGTA	ENST00000264230.4	-	1	2246_2272	c.1009_1035delTACCGTGGGGACGTCTACTTAGTGGGC	c.(1009-1035)taccgtggggacgtctacttagtgggcdel	p.YRGDVYLVG337del	POLR2B_ENST00000381227.1_5'Flank|POLR2B_ENST00000431623.2_5'Flank|POLR2B_ENST00000314595.5_5'Flank|POLR2B_ENST00000441246.2_5'Flank	NM_032313.2	NP_115689.1	Q8NC60	NOA1_HUMAN	nitric oxide associated 1	337	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				apoptotic process (GO:0006915)|GTP catabolic process (GO:0006184)|mitochondrial translation (GO:0032543)|regulation of cell death (GO:0010941)|regulation of cellular respiration (GO:0043457)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)										CGTTGGTGGCGCCCACTAAGTAGACGTCCCCACGGTAGCGCCAGGAG	0.612																																						uc003hck.2		NaN																	0				ovary(1)|breast(1)	2						c.(1009-1035)TACCGTGGGGACGTCTACTTAGTGGGCdel		hypothetical protein LOC84273																																				SO:0001651	inframe_deletion	84273						GTP binding	g.chr4:57842717_57842743delGCCCACTAAGTAGACGTCCCCACGGTA	AK098215	CCDS3510.1	4q12	2013-05-24	2011-10-19	2011-10-19	ENSG00000084092	ENSG00000084092			28473	protein-coding gene	gene with protein product	"""nitric oxide synthase, mitochondrial (putative)"", ""mitochondrial GTPase 3 homolog (S. cerevisiae)"""	614919	"""chromosome 4 open reading frame 14"""	C4orf14		16380119, 2118999, 21771794, 22447445	Standard	NM_032313		Approved	MGC3232, hAtNOS1, hNOA1, MTG3	uc003hck.3	Q8NC60	OTTHUMG00000128773	ENST00000264230.4:c.1009_1035delTACCGTGGGGACGTCTACTTAGTGGGC	4.37:g.57842717_57842743delGCCCACTAAGTAGACGTCCCCACGGTA	ENSP00000264230:p.Tyr337_Gly345del					POLR2B_uc003hcl.1_5'Flank|POLR2B_uc011cae.1_5'Flank|POLR2B_uc011caf.1_5'Flank	p.YRGDVYLVG337del	NM_032313	NP_115689	Q8NC60	CD014_HUMAN			1	1084_1110	-	Glioma(25;0.08)|all_neural(26;0.181)		337_345					Q8N7L6|Q9BSQ9	In_Frame_Del	DEL	ENST00000264230.4	37	c.1009_1035delTACCGTGGGGACGTCTACTTAGTGGGC	CCDS3510.1																																																																																				0.612	NOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250694.2		NM_032313		9	87	NaN	NaN	NaN	NaN	NaN	9	87	---	---
FBXW7	55294	broad.mit.edu	37	4	153245449	153245450	+	Frame_Shift_Ins	INS	-	-	G			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08			-	G	-	-		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr4:153245449_153245450insG	ENST00000281708.4	-	11	2970_2971	c.1741_1742insC	c.(1741-1743)cagfs	p.Q581fs	FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.Q463fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.Q581fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.Q581fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.Q405fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.Q501fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	581					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.Q581*(2)|p.G579_Q581>E(1)|p.Q342*(1)|p.Q501*(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGTTAACGACTGGTGCCCTGTT	0.416			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NaN		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		6	Substitution - Nonsense(4)|Unknown(1)|Complex - deletion inframe(1)	p.G579_Q581>E(1)	large_intestine(5)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1741-1743)CAGfs		F-box and WD repeat domain containing 7 isoform																																				SO:0001589	frameshift_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153245449_153245450insG	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1742dupC	4.37:g.153245451_153245451dupG	ENSP00000281708:p.Gln581fs					FBXW7_uc011cii.1_Frame_Shift_Ins_p.Q581fs|FBXW7_uc003imt.2_Frame_Shift_Ins_p.Q581fs|FBXW7_uc011cih.1_Frame_Shift_Ins_p.Q405fs|FBXW7_uc003imq.2_Frame_Shift_Ins_p.Q501fs|FBXW7_uc003imr.2_Frame_Shift_Ins_p.Q463fs	p.Q581fs	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			11	1890_1891	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	581			WD 6.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Frame_Shift_Ins	INS	ENST00000281708.4	37	c.1741_1742insC	CCDS3777.1																																																																																				0.416	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1				12	56	NaN	NaN	NaN	NaN	NaN	12	56	---	---
CDH10	1008	broad.mit.edu	37	5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5. {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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)																												uc003jgr.1		NaN																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1576-1578)TTCfs		cadherin 10, type 2 preproprotein							170.0	183.0	179.0					5																	24492973		2203	4298	6501	SO:0001589	frameshift_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492973delA	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1577delT	5.37:g.24492973delA	ENSP00000264463:p.Phe526fs	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.F526fs	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	1909	-			526			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Frame_Shift_Del	DEL	ENST00000264463.4	37	c.1577delT	CCDS3892.1																																																																																				0.313	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2		NM_006727		10	399	NaN	NaN	NaN	NaN	NaN	10	399	---	---
PTTG1	9232	broad.mit.edu	37	5	159849713	159849715	+	Splice_Site	DEL	CAG	CAG	-			TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr5:159849713_159849715delCAG	ENST00000393964.1	+	2	494		c.e2-1		PTTG1_ENST00000520452.1_Splice_Site|PTTG1_ENST00000352433.5_Splice_Site|PTTG1_ENST00000519287.1_Splice_Site	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of endopeptidase activity (GO:0010951)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		ACTTTTTCTTCAGCAATCAAAGC	0.424																																						uc003lyj.2		NaN																	0					0						c.e3-1		pituitary tumor-transforming protein 1																																				SO:0001630	splice_region_variant	9232				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding	g.chr5:159849713_159849715delCAG	AF062649	CCDS4353.1	5q35.1	2014-08-04			ENSG00000164611	ENSG00000164611			9690	protein-coding gene	gene with protein product	"""ESP1-associated protein 1"", ""tumor-transforming protein 1"""	604147		TUTR1		9811450, 9892021	Standard	NM_004219		Approved	PTTG, HPTTG, EAP1, securin	uc003lyj.3	O95997	OTTHUMG00000130328	ENST00000393964.1:c.92-1CAG>-	5.37:g.159849713_159849715delCAG						PTTG1_uc003lyk.2_Splice_Site_p.S31_splice	p.S31_splice	NM_004219	NP_004210	O95997	PTTG1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)	3	137	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)							Splice_Site	DEL	ENST00000393964.1	37	c.92_splice	CCDS4353.1																																																																																				0.424	PTTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252677.1		NM_004219	Intron	20	94	NaN	NaN	NaN	NaN	NaN	20	94	---	---
ADCK5	203054	broad.mit.edu	37	8	145617535	145617549	+	Splice_Site	DEL	GGGGGTGCAAGGTGA	GGGGGTGCAAGGTGA	-	rs563415390|rs148509143|rs374281647	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	ENST00000308860.6	+	12	1301_1311	c.1257_1267delGGGGGTGCAAGGTGA	c.(1255-1269)ctgggggtgcaaggt>ctgt	p.GVQG420del	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	420						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)	p.?(2)		endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CAGCCGCACTGGGGGTGCAAGGTGAGGGGGTGCAA	0.73														3140	0.626997	0.8109	0.562	5008	,	,		8769	0.6577		0.4205	False		,,,				2504	0.6053					uc003zch.2		NaN																	2	Unknown(2)		prostate(2)	stomach(1)	1						c.e12+1		aarF domain containing kinase 5				1836,894		805,226,334						4.5	0.7		dbSNP_120	4	2015,4403		639,737,1833	no	coding-near-splice	ADCK5	NM_174922.3		1444,963,2167	A1A1,A1R,RR		31.3961,32.7473,42.0966				3851,5297				SO:0001630	splice_region_variant	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617535_145617549delGGGGGTGCAAGGTGA	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1267+1GGGGGTGCAAGGTGA>-	8.37:g.145617535_145617549delGGGGGTGCAAGGTGA						ADCK5_uc003zcg.2_Intron|ADCK5_uc003zci.2_Splice_Site_p.D12_splice	p.D423_splice	NM_174922	NP_777582	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		12	1321	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)							B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Splice_Site	DEL	ENST00000308860.6	37	c.1267_splice	CCDS34965.1																																																																																				0.730	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2		NM_174922	In_Frame_Del	3	4	NaN	NaN	NaN	NaN	NaN	3	4	---	---
TLR4	7099	broad.mit.edu	37	9	120470999	120471017	+	Splice_Site	DEL	TTTATCCAGGTAATGAATC	TTTATCCAGGTAATGAATC	-	rs148067660	byFrequency	TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chr9:120470999_120471017delTTTATCCAGGTAATGAATC	ENST00000355622.6	+	2	353_361	c.252_260delTTTATCCAGGTAATGAATC	c.(250-261)gatttatccagg>gag	p.DLSR84fs	TLR4_ENST00000472304.1_Intron|TLR4_ENST00000394487.4_Splice_Site_p.DLSR44fs|RNU6-1082P_ENST00000364574.1_RNA	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	84					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	AGGTGCTGGATTTATCCAGGTAATGAATCCACTTTTACA	0.438																																						uc004bjz.2		NaN																	0				lung(10)|ovary(4)|breast(1)|skin(1)	16						c.e2+1		toll-like receptor 4 precursor																																				SO:0001630	splice_region_variant	7099				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	g.chr9:120470999_120471017delTTTATCCAGGTAATGAATC	U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.260+1TTTATCCAGGTAATGAATC>-	9.37:g.120470999_120471017delTTTATCCAGGTAATGAATC						TLR4_uc004bka.2_Splice_Site_p.R47_splice|TLR4_uc004bkb.2_Intron	p.R87_splice	NM_138554	NP_612564	O00206	TLR4_HUMAN			2	551	+								A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Splice_Site	DEL	ENST00000355622.6	37	c.260_splice	CCDS6818.1																																																																																				0.438	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055549.3		NM_138554	Frame_Shift_Del	43	132	NaN	NaN	NaN	NaN	NaN	43	132	---	---
AMMECR1	9949	broad.mit.edu	37	X	109459809	109459823	+	In_Frame_Del	DEL	CCGTGGCAGCTCATC	CCGTGGCAGCTCATC	-	rs374049534		TCGA-G2-A2ES-01A-11D-A17V-08	TCGA-G2-A2ES-11A-31D-A17V-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c628df6-a848-4177-87b8-714788118980	d637d039-a319-4a5d-a99e-54e8f81096e7	g.chrX:109459809_109459823delCCGTGGCAGCTCATC	ENST00000262844.5	-	3	789_803	c.622_636delGATGAGCTGCCACGG	c.(622-636)gatgagctgccacggdel	p.DELPR208del	AMMECR1_ENST00000372057.1_In_Frame_Del_p.DELPR85del|AMMECR1_ENST00000372059.2_In_Frame_Del_p.DELPR171del	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	208	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.							p.R212G(1)		large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						AGCAGAAAAGCCGTGGCAGCTCATCCCTTGTCATT	0.377																																						uc004eoo.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(622-636)GATGAGCTGCCACGGdel		AMMECR1 protein isoform 1																																				SO:0001651	inframe_deletion	9949							g.chrX:109459809_109459823delCCGTGGCAGCTCATC	AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.622_636delGATGAGCTGCCACGG	X.37:g.109459809_109459823delCCGTGGCAGCTCATC	ENSP00000262844:p.Asp208_Arg212del					AMMECR1_uc004eop.2_In_Frame_Del_p.DELPR171del|AMMECR1_uc004eoq.2_In_Frame_Del_p.DELPR85del	p.DELPR208del	NM_015365	NP_056180	Q9Y4X0	AMER1_HUMAN			3	703_717	-			208_212			AMMECR1.		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	In_Frame_Del	DEL	ENST00000262844.5	37	c.622_636delGATGAGCTGCCACGG	CCDS14551.1																																																																																				0.377	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1				23	61	NaN	NaN	NaN	NaN	NaN	23	61	---	---
