#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
TNFRSF25	8718	broad.mit.edu	37	1	6522120	6522120	+	Nonsense_Mutation	SNP	C	C	A	rs367817707		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:6522120C>A	ENST00000356876.3	-	9	946	c.859G>T	c.(859-861)Gag>Tag	p.E287*	TNFRSF25_ENST00000461703.2_5'Flank|TNFRSF25_ENST00000351959.5_Nonsense_Mutation_p.E250*|TNFRSF25_ENST00000348333.3_Nonsense_Mutation_p.E242*|TNFRSF25_ENST00000377782.3_Nonsense_Mutation_p.E296*|TNFRSF25_ENST00000351748.3_Nonsense_Mutation_p.E104*	NM_003790.2|NM_148967.1	NP_003781.1|NP_683868.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	287					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell surface receptor signaling pathway (GO:0007166)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTGGGTCTCGGGGTAGCCA	0.627																																						uc001anh.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10						c.(886-888)Gag>Tag		Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.							102.0	98.0	100.0					1																	6522120		2203	4300	6503	SO:0001587	stop_gained	8718				apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity	g.chr1:6522120C>A	U72763	CCDS71.1, CCDS72.1, CCDS73.1, CCDS74.1, CCDS75.1	1p36.2	2008-02-05	2002-12-20	2002-12-20	ENSG00000215788	ENSG00000215788		"""Tumor necrosis factor receptor superfamily"""	11910	protein-coding gene	gene with protein product		603366	"""tumor necrosis factor receptor superfamily, member 12 (translocating chain-association membrane protein)"""	TNFRSF12		9052839, 8934525	Standard	NM_003790		Approved	DR3, TRAMP, WSL-1, LARD, WSL-LR, DDR3, TR3, APO-3	uc001anh.3	Q93038	OTTHUMG00000000831	ENST00000356876.3:c.859G>T	1.37:g.6522120C>A	ENSP00000349341:p.Glu287*					TNFRSF25_uc001ana.3_Nonsense_Mutation_p.E104*|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Nonsense_Mutation_p.E60*|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Nonsense_Mutation_p.E287*|TNFRSF25_uc001anf.3_Nonsense_Mutation_p.E250*|TNFRSF25_uc001ang.3_Nonsense_Mutation_p.E242*	p.E296*	NM_148965	NP_683866	Q93038	TNR25_HUMAN		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)	8	974	-	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	287					B1ALX2|B1ALX3|B7ZLL7|O00275|O00276|O00277|O00278|O00279|O00280|O14865|O14866|P78507|P78515|Q17RU4|Q92983|Q93036|Q93037|Q99722|Q99830|Q99831|Q9BY86|Q9UME0|Q9UME1|Q9UME5	Nonsense_Mutation	SNP	ENST00000356876.3	37	c.886G>T	CCDS71.1	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269621	0.40095	.	.	ENSG00000215788	ENST00000356876;ENST00000377782;ENST00000351959;ENST00000351748;ENST00000348333	.	.	.	4.59	2.68	0.31781	.	19.499500	0.00166	U	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-3.7193	11.3932	0.49825	0.0:0.3583:0.6417:0.0	.	.	.	.	X	287;296;250;104;242	.	ENSP00000314451:E242X	E	-	1	0	TNFRSF25	6444707	0.013000	0.17824	0.018000	0.16275	0.052000	0.14988	1.336000	0.33850	0.454000	0.26884	-0.850000	0.03035	GAG		0.627	TNFRSF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002259.1	NM_148965	
LPHN2	23266	broad.mit.edu	37	1	82456163	82456163	+	Missense_Mutation	SNP	G	G	C	rs372665040		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:82456163G>C	ENST00000370728.1	+	25	4359	c.3714G>C	c.(3712-3714)aaG>aaC	p.K1238N	LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370717.2_Missense_Mutation_p.K1253N|LPHN2_ENST00000319517.6_Missense_Mutation_p.K1182N|LPHN2_ENST00000370727.1_Missense_Mutation_p.K1210N|LPHN2_ENST00000370730.1_Missense_Mutation_p.K1195N|LPHN2_ENST00000370723.1_Missense_Mutation_p.K1240N|LPHN2_ENST00000359929.3_Missense_Mutation_p.K1182N|LPHN2_ENST00000370721.1_Missense_Mutation_p.K1163N|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000271029.4_Missense_Mutation_p.K1210N|LPHN2_ENST00000394879.1_Missense_Mutation_p.K1240N|LPHN2_ENST00000335786.5_Missense_Mutation_p.K1195N|LPHN2_ENST00000370725.1_Missense_Mutation_p.K1253N|LPHN2_ENST00000370715.1_3'UTR			O95490	LPHN2_HUMAN	latrophilin 2	1238					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGCTGCACAAGGGTGACTATA	0.413																																						uc001dit.4																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119						c.(3544-3546)aaG>aaC		Homo sapiens latrophilin 2 (LPHN2), mRNA.		G	ASN/LYS	0,4406		0,0,2203	128.0	122.0	124.0		3546	-0.3	1.0	1		124	1,8599	1.2+/-3.3	0,1,4299	no	missense	LPHN2	NM_012302.2	94	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	benign	1182/1404	82456163	1,13005	2203	4300	6503	SO:0001583	missense	23266				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	g.chr1:82456163G>C	AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.3714G>C	1.37:g.82456163G>C	ENSP00000359763:p.Lys1238Asn					LPHN2_uc001dis.3_Missense_Mutation_p.K162N|LPHN2_uc001diu.3_Missense_Mutation_p.K1182N|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.K809N	p.K1182N	NM_012302	NP_036434	O95490	LPHN2_HUMAN		all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)	20	3727	+			1238					A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37	c.3546G>C		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	1.708|1.708|1.708	-0.499859|-0.499859|-0.499859	0.04291|0.04291|0.04291	0.0|0.0|0.0	1.16E-4|1.16E-4|1.16E-4	ENSG00000117114|ENSG00000117114|ENSG00000117114	ENST00000402328|ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	.|T;T;T;T;T;T;T;T;T;T;T;T|.	.|0.68903|.	.|-0.33;-0.35;-0.36;-0.3;-0.3;-0.25;-0.32;-0.32;-0.3;-0.25;-0.3;-0.36|.	5.53|5.53|5.53	-0.289|-0.289|-0.289	0.12851|0.12851|0.12851	.|.|.	.|0.113073|.	.|0.56097|.	.|D|.	.|0.000029|.	T|T|T	0.03305|0.03305|0.03305	0.0096|0.0096|0.0096	N|N|N	0.03608|0.03608|0.03608	-0.345|-0.345|-0.345	0.31616|0.31616|0.31616	N|N|N	0.650832|0.650832|0.650832	.|B;B|.	.|0.02656|.	.|0.0;0.0|.	.|B;B|.	.|0.04013|.	.|0.0;0.001|.	T|T|T	0.35674|0.35674|0.35674	-0.9779|-0.9779|-0.9779	5|10|5	.|0.23302|.	.|T|.	.|0.38|.	.|.|.	0.221|0.221|0.221	0.00168|0.00168|0.00168	0.2359:0.1968:0.252:0.3153|0.2359:0.1968:0.252:0.3153|0.2359:0.1968:0.252:0.3153	.|.|.	.|1182;162|.	.|O95490-2;B3KVU1|.	.|.;.|.	R|N|T	250|1163;1238;1195;1210;1253;1240;1182;1182;1253;1240;1210;1195|1130	.|ENSP00000359756:K1163N;ENSP00000359763:K1238N;ENSP00000359765:K1195N;ENSP00000359762:K1210N;ENSP00000359760:K1253N;ENSP00000359758:K1240N;ENSP00000353006:K1182N;ENSP00000322270:K1182N;ENSP00000359752:K1253N;ENSP00000378344:K1240N;ENSP00000271029:K1210N;ENSP00000337306:K1195N|.	.|ENSP00000271029:K1210N|.	G|K|R	+|+|+	1|3|2	0|2|0	LPHN2|LPHN2|LPHN2	82228751|82228751|82228751	0.970000|0.970000|0.970000	0.33590|0.33590|0.33590	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.487000|0.487000|0.487000	0.33371|0.33371|0.33371	0.093000|0.093000|0.093000	0.15086|0.15086|0.15086	0.297000|0.297000|0.297000	0.22615|0.22615|0.22615	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GGG|AAG|AGG		0.413	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
PEX19	5824	broad.mit.edu	37	1	160254853	160254853	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:160254853A>G	ENST00000368072.5	-	1	83	c.62T>C	c.(61-63)cTt>cCt	p.L21P	PEX19_ENST00000440949.3_5'UTR|DCAF8_ENST00000556710.1_5'UTR|PEX19_ENST00000532508.1_5'UTR|DCAF8_ENST00000608310.1_5'UTR	NM_001193644.1|NM_002857.3	NP_001180573.1|NP_002848.1	P40855	PEX19_HUMAN	peroxisomal biogenesis factor 19	21	Docking to the peroxisome membrane and binding to PEX3.|Necessary for PEX19 function on peroxisome biogenesis.				chaperone-mediated protein folding (GO:0061077)|chaperone-mediated protein transport (GO:0072321)|establishment of protein localization to peroxisome (GO:0072663)|negative regulation of lipid binding (GO:1900131)|peroxisome fission (GO:0016559)|peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|protein stabilization (GO:0050821)|protein targeting to peroxisome (GO:0006625)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)	ATPase binding (GO:0051117)|peroxisome membrane class-1 targeting sequence binding (GO:0036105)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)	11	all_cancers(52;1.27e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTTTCCAGAAGCTCCTCCAA	0.597																																						uc001fvs.2																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						c.(61-63)cTt>cCt		Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA.							84.0	81.0	82.0					1																	160254853		2203	4300	6503	SO:0001583	missense	5824					CUL4 RING ubiquitin ligase complex	protein binding	g.chr1:160254853A>G	Y09048	CCDS1201.1	1q22	2008-07-18	2004-03-17	2004-03-19	ENSG00000162735	ENSG00000162735			9713	protein-coding gene	gene with protein product	"""housekeeping gene, 33kD"""	600279	"""peroxisomal farnesylated protein"""	PXF		9339377, 10051604	Standard	NM_002857		Approved	HK33, D1S2223E, PMP1, PMPI, PXMP1		P40855	OTTHUMG00000033112	ENST00000368072.5:c.62T>C	1.37:g.160254853A>G	ENSP00000357051:p.Leu21Pro					DCAF8_uc010pjc.1_5'UTR|DCAF8_uc021pbq.1_Missense_Mutation_p.L21P|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_5'UTR	p.L21P	NM_002857	NP_002848	Q5TAQ9	DCAF8_HUMAN			0	89	-			0					D3DVE7|Q5QNY4|Q8NI97	Missense_Mutation	SNP	ENST00000368072.5	37	c.62T>C	CCDS1201.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.424801	0.83667	.	.	ENSG00000162735	ENST00000368072	.	.	.	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000012	T	0.55768	0.1941	L	0.32530	0.975	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.60796	-0.7192	9	0.52906	T	0.07	-10.3102	12.3348	0.55060	1.0:0.0:0.0:0.0	.	21	P40855	PEX19_HUMAN	P	21	.	ENSP00000357051:L21P	L	-	2	0	PEX19	158521477	1.000000	0.71417	0.999000	0.59377	0.955000	0.61496	4.209000	0.58493	2.095000	0.63458	0.528000	0.53228	CTT		0.597	PEX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080642.2	NM_002857	
ARID4B	51742	broad.mit.edu	37	1	235345301	235345301	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:235345301C>T	ENST00000264183.3	-	20	3430	c.2933G>A	c.(2932-2934)tGt>tAt	p.C978Y	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.C892Y|ARID4B_ENST00000366603.2_Missense_Mutation_p.C978Y	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	978					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTGGGTGAACAACTCTCCTC	0.493																																						uc021pks.1																			0				NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8						c.(2932-2934)tGt>tAt		Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.							117.0	121.0	120.0					1																	235345301		2203	4300	6503	SO:0001583	missense	51742				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding	g.chr1:235345301C>T	AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.2933G>A	1.37:g.235345301C>T	ENSP00000264183:p.Cys978Tyr					ARID4B_uc001hwq.3_Missense_Mutation_p.C978Y|ARID4B_uc001hwr.3_Missense_Mutation_p.C892Y|ARID4B_uc001hws.4_Missense_Mutation_p.C892Y|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.C659Y	p.C978Y	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)		19	3310	-	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	978					A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	ENST00000264183.3	37	c.2933G>A	CCDS31061.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.507|3.507	-0.100514|-0.100514	0.06967|0.06967	.|.	.|.	ENSG00000054267|ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183|ENST00000444620	T;T;T|.	0.22336|.	1.96;1.99;1.99|.	4.96|4.96	4.96|4.96	0.65561|0.65561	.|.	0.591073|.	0.16994|.	N|.	0.191196|.	T|T	0.44052|0.44052	0.1275|0.1275	N|N	0.19112|0.19112	0.55|0.55	0.35060|0.35060	D|D	0.761484|0.761484	P;P;D;P|.	0.61080|.	0.904;0.904;0.989;0.845|.	B;B;B;B|.	0.43990|.	0.179;0.342;0.438;0.185|.	T|T	0.52230|0.52230	-0.8603|-0.8603	10|5	0.11794|.	T|.	0.64|.	-2.0459|-2.0459	12.6752|12.6752	0.56891|0.56891	0.0:0.6965:0.3035:0.0|0.0:0.6965:0.3035:0.0	.|.	659;978;892;978|.	Q4LE39-4;Q4LE39-3;Q4LE39-2;Q4LE39|.	.;.;.;ARI4B_HUMAN|.	Y|I	978;892;978;978|378	ENSP00000264184:C892Y;ENSP00000355562:C978Y;ENSP00000264183:C978Y|.	ENSP00000264183:C978Y|.	C|V	-|-	2|1	0|0	ARID4B|ARID4B	233411924|233411924	0.293000|0.293000	0.24371|0.24371	0.934000|0.934000	0.37439|0.37439	0.012000|0.012000	0.07955|0.07955	2.017000|2.017000	0.40981|0.40981	2.567000|2.567000	0.86603|0.86603	0.585000|0.585000	0.79938|0.79938	TGT|GTT		0.493	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095566.3	NM_016374	
OR6F1	343169	broad.mit.edu	37	1	247875180	247875180	+	Missense_Mutation	SNP	C	C	T	rs372005274		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:247875180C>T	ENST00000302084.2	-	1	925	c.878G>A	c.(877-879)cGt>cAt	p.R293H	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293L(1)|p.R293H(1)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	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;0.0168)			TTCCTTATTACGAAGCGTATA	0.438																																						uc001idj.1																			2	Substitution - Missense(2)	p.R293L(2)|p.R293H(2)	lung(2)	breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47						c.(877-879)cGt>cAt		Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	124.0	123.0	123.0		878	1.5	0.0	1		123	0,8600		0,0,4300	no	missense	OR6F1	NM_001005286.1	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	293/309	247875180	1,13005	2203	4300	6503	SO:0001583	missense	343169				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247875180C>T	BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.878G>A	1.37:g.247875180C>T	ENSP00000305640:p.Arg293His						p.R293H	NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		0	878	-	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)		293					B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	ENST00000302084.2	37	c.878G>A	CCDS31095.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.515575	0.27123	2.27E-4	0.0	ENSG00000169214	ENST00000302084	T	0.41065	1.01	3.49	1.54	0.23209	.	0.174240	0.25349	N	0.031304	T	0.48995	0.1531	M	0.93420	3.415	0.09310	N	1	B	0.20671	0.047	B	0.14023	0.01	T	0.52779	-0.8530	10	0.72032	D	0.01	-8.9544	6.9123	0.24342	0.1716:0.7308:0.0:0.0976	.	293	Q8NGZ6	OR6F1_HUMAN	H	293	ENSP00000305640:R293H	ENSP00000305640:R293H	R	-	2	0	OR6F1	245941803	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.804000	0.27098	0.268000	0.21939	0.591000	0.81541	CGT		0.438	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096870.1	NM_001005286	
BMI1	648	broad.mit.edu	37	10	22615862	22615862	+	Nonsense_Mutation	SNP	T	T	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:22615862T>G	ENST00000376663.3	+	3	661	c.156T>G	c.(154-156)taT>taG	p.Y52*	COMMD3-BMI1_ENST00000602390.1_Nonsense_Mutation_p.Y195*	NM_005180.8	NP_005171.4	P35226	BMI1_HUMAN	BMI1 proto-oncogene, polycomb ring finger	52					chromatin modification (GO:0016568)|hemopoiesis (GO:0030097)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|regulation of gene expression (GO:0010468)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|ubiquitin ligase complex (GO:0000151)	RING-like zinc finger domain binding (GO:0071535)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						CCAGCAAGTATTGTCCTATTT	0.343																																						uc009xkg.3																			0											c.(583-585)taT>taG		Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.							170.0	178.0	175.0					10																	22615862		2203	4300	6503	SO:0001587	stop_gained	648				hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr10:22615862T>G	BC011652	CCDS7138.1	10p13	2014-06-26	2014-06-26	2006-04-26	ENSG00000168283	ENSG00000168283		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	1066	protein-coding gene	gene with protein product		164831	"""polycomb group ring finger 4"", ""B lymphoma Mo-MLV insertion region 1 homolog (mouse)"""	PCGF4		8268912	Standard	NM_005180		Approved	RNF51		P35226	OTTHUMG00000017807	ENST00000376663.3:c.156T>G	10.37:g.22615862T>G	ENSP00000365851:p.Tyr52*					COMMD3-BMI1_uc001irh.3_Nonsense_Mutation_p.Y52*	p.Y195*	NM_001204062	NP_001190991	P35226	BMI1_HUMAN			6	620	+			52			Interaction with E4F1.		Q16030|Q5T8Z3|Q96F37	Nonsense_Mutation	SNP	ENST00000376663.3	37	c.585T>G	CCDS7138.1	.	.	.	.	.	.	.	.	.	.	T	33	5.249783	0.95305	.	.	ENSG00000168283	ENST00000417470;ENST00000376691;ENST00000376663;ENST00000442508;ENST00000456675;ENST00000416820;ENST00000443519	.	.	.	5.67	3.32	0.38043	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.8496	7.6657	0.28430	0.0:0.2433:0.0:0.7567	.	.	.	.	X	52;36;52;52;52;52;29	.	ENSP00000365851:Y52X	Y	+	3	2	BMI1	22655868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.106000	0.31098	0.954000	0.37851	0.528000	0.53228	TAT		0.343	BMI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047176.1	NM_005180	
C10orf71	118461	broad.mit.edu	37	10	50531485	50531485	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:50531485G>A	ENST00000374144.3	+	3	1183	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	C10orf71_ENST00000323868.4_Missense_Mutation_p.E299K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	299										endometrium(1)	1						AACCGTCCCAGAAAGCAAAGC	0.542																																						uc021pqb.1																			0				endometrium(1)	1						c.(895-897)Gaa>Aaa		Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.							65.0	77.0	73.0					10																	50531485		2037	4202	6239	SO:0001583	missense	118461							g.chr10:50531485G>A	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.895G>A	10.37:g.50531485G>A	ENSP00000363259:p.Glu299Lys					C10orf71_uc021pqa.1_Missense_Mutation_p.E298K|C10orf71_uc021pqc.1_Missense_Mutation_p.E299K	p.E299K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN			0	895	+			299					A0AVL8	Missense_Mutation	SNP	ENST00000374144.3	37	c.895G>A	CCDS44387.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031266	0.54790	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.19250	2.16;3.31	5.4	5.4	0.78164	.	0.122339	0.36555	N	0.002521	T	0.21267	0.0512	M	0.64997	1.995	0.34864	D	0.742874	P	0.41524	0.753	B	0.38056	0.264	T	0.25813	-1.0121	10	0.20046	T	0.44	.	12.1334	0.53957	0.1235:0.0:0.8765:0.0	.	299	Q711Q0-3	.	K	299	ENSP00000318713:E299K;ENSP00000363259:E299K	ENSP00000318713:E299K	E	+	1	0	C10orf71	50201491	0.034000	0.19679	0.934000	0.37439	0.399000	0.30720	1.468000	0.35332	2.530000	0.85305	0.561000	0.74099	GAA		0.542	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459	
PTEN	5728	broad.mit.edu	37	10	89711882	89711882	+	Missense_Mutation	SNP	C	C	G	rs397514559		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:89711882C>G	ENST00000371953.3	+	6	1857	c.500C>G	c.(499-501)aCt>aGt	p.T167S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	167	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		T -> P (in breast cancer; severely reduced protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.T167I(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.T167S(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGGGAGTAACTATTCCCAGT	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		58	Whole gene deletion(37)|Deletion - Frameshift(10)|Complex - frameshift(4)|Unknown(4)|Substitution - Missense(2)|Deletion - In frame(1)	p.0?(37)|p.V166fs*17(6)|p.T167A(5)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.T167I(2)|p.V166fs*10(2)|p.Y27fs*1(2)|p.T167S(2)|p.Y27_N212>Y(2)|p.G165_*404del(1)|p.K163_V166>NKGE(1)|p.V166I(1)|p.V166L(1)|p.G165_K342del(1)|p.T167P(1)	prostate(16)|central_nervous_system(15)|skin(8)|endometrium(4)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(499-501)aCt>aGt		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							112.0	116.0	115.0					10																	89711882		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711882C>G	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.500C>G	10.37:g.89711882C>G	ENSP00000361021:p.Thr167Ser	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T167S	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1532	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	167		T -> P (in breast cancer; severely reduced protein phosphatase activity).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.500C>G	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933374	0.92458	.	.	ENSG00000171862	ENST00000371953	D	0.98633	-5.04	5.74	5.74	0.90152	Phosphatase tensin type (1);	0.045733	0.85682	D	0.000000	D	0.98773	0.9587	M	0.66297	2.02	0.80722	D	1	D	0.61080	0.989	P	0.59643	0.861	D	0.99035	1.0822	9	.	.	.	-1.2558	19.9308	0.97118	0.0:1.0:0.0:0.0	.	167	P60484	PTEN_HUMAN	S	167	ENSP00000361021:T167S	.	T	+	2	0	PTEN	89701862	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.406000	0.80017	2.722000	0.93159	0.591000	0.81541	ACT		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
KNDC1	85442	broad.mit.edu	37	10	135012314	135012314	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:135012314A>C	ENST00000304613.3	+	14	2323	c.2302A>C	c.(2302-2304)Aac>Cac	p.N768H	KNDC1_ENST00000368572.2_Missense_Mutation_p.N768H|KNDC1_ENST00000368571.2_Missense_Mutation_p.N703H			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	768	Pro-rich.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCCCAGCAAACCAGCCAGA	0.731																																						uc001llz.1																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(2302-2304)Aac>Cac		Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.							5.0	8.0	7.0					10																	135012314		2039	4121	6160	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:135012314A>C	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.2302A>C	10.37:g.135012314A>C	ENSP00000304437:p.Asn768His					KNDC1_uc001lma.1_Missense_Mutation_p.N703H|KNDC1_uc001lmb.1_Missense_Mutation_p.N180H	p.N768H	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	13	2303	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	768			Pro-rich.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.2302A>C	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	A	10.15	1.271713	0.23221	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.17854	2.74;2.74;2.25	3.05	-0.296	0.12824	.	6.068490	0.00357	U	0.000025	T	0.22322	0.0538	L	0.36672	1.1	0.09310	N	1	D;B;B	0.59767	0.986;0.216;0.41	P;B;B	0.53861	0.736;0.128;0.095	T	0.08889	-1.0700	10	0.52906	T	0.07	-3.5356	3.1218	0.06393	0.3096:0.3311:0.3593:0.0	.	768;703;768	Q76NI1-4;Q76NI1-2;Q76NI1	.;.;VKIND_HUMAN	H	768;768;703	ENSP00000304437:N768H;ENSP00000357561:N768H;ENSP00000357560:N703H	ENSP00000304437:N768H	N	+	1	0	KNDC1	134862304	0.001000	0.12720	0.001000	0.08648	0.068000	0.16541	0.481000	0.22260	-0.078000	0.12730	0.255000	0.18592	AAC		0.731	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643	
MYOD1	4654	broad.mit.edu	37	11	17741852	17741852	+	Missense_Mutation	SNP	G	G	T	rs143600911		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr11:17741852G>T	ENST00000250003.3	+	1	738	c.523G>T	c.(523-525)Gca>Tca	p.A175S		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	175					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|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)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CCCTGGCGCCGCAGCCGCCTT	0.741																																						uc001mni.3																			0				breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						c.(523-525)Gca>Tca		Homo sapiens myogenic differentiation 1 (MYOD1), mRNA.		G	SER/ALA	1,4385		0,1,2192	14.0	14.0	14.0		523	0.1	0.6	11	dbSNP_134	14	0,8564		0,0,4282	no	missense	MYOD1	NM_002478.4	99	0,1,6474	TT,TG,GG		0.0,0.0228,0.0077	benign	175/321	17741852	1,12949	2193	4282	6475	SO:0001583	missense	4654				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr11:17741852G>T	AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.523G>T	11.37:g.17741852G>T	ENSP00000250003:p.Ala175Ser						p.A175S	NM_002478	NP_002469	P15172	MYOD1_HUMAN			0	743	+			175					O75321	Missense_Mutation	SNP	ENST00000250003.3	37	c.523G>T	CCDS7826.1	.	.	.	.	.	.	.	.	.	.	G	9.117	1.007974	0.19199	2.28E-4	0.0	ENSG00000129152	ENST00000250003	D	0.97303	-4.33	4.74	0.123	0.14709	Helix-loop-helix DNA-binding (1);	0.397169	0.21675	N	0.070817	D	0.88358	0.6415	N	0.12746	0.255	0.09310	N	1	B	0.20988	0.05	B	0.12837	0.008	T	0.78173	-0.2307	10	0.09338	T	0.73	-13.115	4.2241	0.10572	0.3244:0.0:0.5116:0.1641	.	175	P15172	MYOD1_HUMAN	S	175	ENSP00000250003:A175S	ENSP00000250003:A175S	A	+	1	0	MYOD1	17698428	0.000000	0.05858	0.636000	0.29352	0.737000	0.42083	0.022000	0.13511	0.154000	0.19237	0.561000	0.74099	GCA		0.741	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389387.1	NM_002478	
OVOS2	144203	broad.mit.edu	37	12	31288993	31288993	+	IGR	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr12:31288993G>A								RP11-551L14.1 (18588 upstream) : FAM60A (144524 downstream)																							AAGGTTGGGAGACTTCTAGAG	0.423																																						uc010sjy.1																			0											c.(2326-2328)gtC>gtT		RecName: Full=Ovostatin homolog 2; Flags: Precursor;							55.0	54.0	55.0					12																	31288993		1952	4136	6088	SO:0001628	intergenic_variant	144203							g.chr12:31288993G>A																													12.37:g.31288993G>A							p.V776V							16	2328	-	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)								Silent	SNP		37	c.2328C>T																																																																																				0	0.423								
TMEM132D	121256	broad.mit.edu	37	12	129558863	129558863	+	Nonsense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr12:129558863C>A	ENST00000422113.2	-	9	3183	c.2857G>T	c.(2857-2859)Gag>Tag	p.E953*	TMEM132D_ENST00000389441.4_Nonsense_Mutation_p.E491*	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	953					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.E953*(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTGCTCCTCGAAGGGAACC	0.458																																						uc009zyl.1																			1	Substitution - Nonsense(1)	p.E953*(2)|p.F952L(1)	ovary(1)	NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2857-2859)Gag>Tag		Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.							121.0	108.0	113.0					12																	129558863		2203	4300	6503	SO:0001587	stop_gained	121256					integral to membrane		g.chr12:129558863C>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2857G>T	12.37:g.129558863C>A	ENSP00000408581:p.Glu953*					TMEM132D_uc001uia.2_Nonsense_Mutation_p.E491*	p.E953*	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	3185	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	953					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Nonsense_Mutation	SNP	ENST00000422113.2	37	c.2857G>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	43	9.955582	0.99304	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	.	.	.	4.14	4.14	0.48551	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.3738	16.7565	0.85501	0.0:1.0:0.0:0.0	.	.	.	.	X	491;953	.	.	E	-	1	0	TMEM132D	128124816	0.324000	0.24652	0.009000	0.14445	0.945000	0.59286	1.066000	0.30604	2.002000	0.58637	0.411000	0.27672	GAG		0.458	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448	
NALCN	259232	broad.mit.edu	37	13	101795440	101795440	+	Silent	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr13:101795440G>A	ENST00000251127.6	-	17	2190	c.2109C>T	c.(2107-2109)atC>atT	p.I703I		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	703					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)	p.I703I(2)		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)					CTTTTTGGTCGATGTATTTGT	0.468																																						uc001vox.1																			2	Substitution - coding silent(2)	p.I703I(4)	large_intestine(1)|lung(1)	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						c.(2107-2109)atC>atT		Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.							191.0	167.0	175.0					13																	101795440		2203	4300	6503	SO:0001819	synonymous_variant	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101795440G>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.2109C>T	13.37:g.101795440G>A						NALCN_uc001voy.3_Silent_p.I418I	p.I703I	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			16	2298	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		703					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	ENST00000251127.6	37	c.2109C>T	CCDS9498.1																																																																																				0.468	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
CDKL1	8814	broad.mit.edu	37	14	50862534	50862534	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr14:50862534A>G	ENST00000216378.2	-	2	700	c.56T>C	c.(55-57)gTt>gCt	p.V19A	CDKL1_ENST00000356146.1_5'UTR|RP11-247L20.3_ENST00000556713.1_lincRNA|CDKL1_ENST00000395834.1_Missense_Mutation_p.V19A	NM_001282236.1	NP_001269165.1	Q00532	CDKL1_HUMAN	cyclin-dependent kinase-like 1 (CDC2-related kinase)	18	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				heart development (GO:0007507)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACATTTGAAAACAACTCCATA	0.398																																						uc010anu.2																			0				endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12						c.(622-624)gTt>gCt		Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.							85.0	89.0	88.0					14																	50862534		2203	4300	6503	SO:0001583	missense	8814					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity	g.chr14:50862534A>G	AF390028	CCDS9699.1, CCDS73637.1	14q21.3	2011-11-04			ENSG00000100490	ENSG00000100490		"""Cyclin-dependent kinases"""	1781	protein-coding gene	gene with protein product		603441				1639063, 7595554	Standard	XM_005268157		Approved	KKIALRE	uc010anu.2	Q00532	OTTHUMG00000140290	ENST00000216378.2:c.56T>C	14.37:g.50862534A>G	ENSP00000216378:p.Val19Ala					CDKL1_uc001wxz.3_Missense_Mutation_p.V19A	p.V208A	NM_004196	NP_004187	Q00532	CDKL1_HUMAN			4	623	-	all_epithelial(31;0.000746)|Breast(41;0.0102)		18			Protein kinase.		Q2M3A4|Q6QUA0|Q8WXQ5	Missense_Mutation	SNP	ENST00000216378.2	37	c.623T>C		.	.	.	.	.	.	.	.	.	.	A	16.51	3.144237	0.57044	.	.	ENSG00000100490	ENST00000395834;ENST00000216378	T;T	0.70631	-0.5;-0.5	4.34	4.34	0.51931	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	0.85478	0.5706	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.97110	0.99;1.0	D	0.88370	0.2994	9	0.87932	D	0	.	13.2349	0.59965	1.0:0.0:0.0:0.0	.	208;18	Q00532-2;Q00532	.;CDKL1_HUMAN	A	19	ENSP00000379176:V19A;ENSP00000216378:V19A	ENSP00000216378:V19A	V	-	2	0	CDKL1	49932284	1.000000	0.71417	0.998000	0.56505	0.083000	0.17756	8.712000	0.91403	1.918000	0.55548	0.459000	0.35465	GTT		0.398	CDKL1-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000382103.1		
KCNH5	27133	broad.mit.edu	37	14	63447847	63447847	+	Missense_Mutation	SNP	C	C	T	rs200308580		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr14:63447847C>T	ENST00000322893.7	-	6	953	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	KCNH5_ENST00000394964.2_Missense_Mutation_p.A171T|KCNH5_ENST00000394968.1_Missense_Mutation_p.A171T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A229T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	229					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.A229T(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCATAATGGCGGTGTAGAAG	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		20121	0.001		0.0	False		,,,				2504	0.0					uc001xfx.3																			1	Substitution - Missense(1)	p.A229T(2)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(685-687)Gcc>Acc		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.							76.0	76.0	76.0					14																	63447847		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63447847C>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.685G>A	14.37:g.63447847C>T	ENSP00000321427:p.Ala229Thr					KCNH5_uc001xfy.3_Missense_Mutation_p.A229T|KCNH5_uc001xfz.1_Missense_Mutation_p.A171T|KCNH5_uc001xga.3_Missense_Mutation_p.A171T	p.A229T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	5	736	-			229					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.685G>A	CCDS9756.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	33	5.228534	0.95173	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.98598	0.9531	M	0.86178	2.8	0.80722	D	1	D;D;D;D	0.89917	0.998;0.999;0.999;1.0	P;D;D;D	0.87578	0.691;0.923;0.923;0.998	D	0.99445	1.0939	10	0.66056	D	0.02	.	19.2302	0.93834	0.0:1.0:0.0:0.0	.	171;171;229;229	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	T	229;229;171;171	ENSP00000321427:A229T;ENSP00000395439:A229T;ENSP00000378419:A171T;ENSP00000378415:A171T	ENSP00000321427:A229T	A	-	1	0	KCNH5	62517600	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.764000	0.85297	2.547000	0.85894	0.585000	0.79938	GCC		0.383	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
HERC2	8924	broad.mit.edu	37	15	28460793	28460793	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:28460793A>G	ENST00000261609.7	-	39	6292	c.6184T>C	c.(6184-6186)Ttc>Ctc	p.F2062L		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGGCAGTGAAGGGTGCGTGC	0.607																																						uc001zbj.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(6184-6186)Ttc>Ctc		Homo sapiens hect domain and RLD 2 (HERC2), mRNA.							15.0	13.0	14.0					15																	28460793		2196	4285	6481	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28460793A>G	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.6184T>C	15.37:g.28460793A>G	ENSP00000261609:p.Phe2062Leu						p.F2062L	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	38	6290	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	2062						Missense_Mutation	SNP	ENST00000261609.7	37	c.6184T>C	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	A	14.02	2.411349	0.42817	.	.	ENSG00000128731	ENST00000261609	T	0.36878	1.23	4.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.24967	0.0606	L	0.34521	1.04	0.80722	D	1	P	0.37864	0.61	B	0.34824	0.19	T	0.04078	-1.0979	10	0.12766	T	0.61	.	13.573	0.61858	1.0:0.0:0.0:0.0	.	2062	O95714	HERC2_HUMAN	L	2062	ENSP00000261609:F2062L	ENSP00000261609:F2062L	F	-	1	0	HERC2	26134388	1.000000	0.71417	0.599000	0.28851	0.720000	0.41350	8.478000	0.90428	1.800000	0.52685	0.397000	0.26171	TTC		0.607	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
FRMD5	84978	broad.mit.edu	37	15	44181021	44181021	+	Missense_Mutation	SNP	C	C	T	rs373951833	byFrequency	TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:44181021C>T	ENST00000417257.1	-	9	954	c.778G>A	c.(778-780)Gta>Ata	p.V260I	FRMD5_ENST00000484674.1_Splice_Site|FRMD5_ENST00000402883.1_Missense_Mutation_p.V260I	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5	260	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTCTGACTTACGTATAAATAG	0.498																																						uc001ztl.3																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(778-780)Gta>Ata		Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.							116.0	106.0	109.0					15																	44181021		2198	4298	6496	SO:0001583	missense	84978					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr15:44181021C>T	BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.778G>A	15.37:g.44181021C>T	ENSP00000403067:p.Val260Ile					FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Splice_Site_p.Y170_splice|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_Missense_Mutation_p.V26I	p.V260I	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)	8	955	-		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)	260			FERM.		Q8NBG4	Missense_Mutation	SNP	ENST00000417257.1	37	c.778G>A	CCDS10107.2	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240150	0.79912	.	.	ENSG00000171877	ENST00000417257;ENST00000402883;ENST00000449926	D;D;D	0.82619	-1.63;-1.63;-1.63	5.17	5.17	0.71159	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.192064	0.44688	D	0.000421	T	0.77751	0.4177	L	0.49571	1.57	0.80722	D	1	B;B	0.32829	0.335;0.386	B;B	0.32465	0.062;0.146	T	0.73707	-0.3898	10	0.08179	T	0.78	.	17.4251	0.87525	0.0:1.0:0.0:0.0	.	245;260	Q7Z6J6-2;Q7Z6J6	.;FRMD5_HUMAN	I	260;260;226	ENSP00000403067:V260I;ENSP00000384142:V260I;ENSP00000399684:V226I	ENSP00000384142:V260I	V	-	1	0	FRMD5	41968313	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.211000	0.77933	2.693000	0.91896	0.650000	0.86243	GTA		0.498	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133879.1	NM_032892	
SLTM	79811	broad.mit.edu	37	15	59186379	59186379	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:59186379G>A	ENST00000380516.2	-	11	1478	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.P33L	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	464					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTTAGAGGGATCACCTTT	0.318																																						uc002afp.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1390-1392)cCc>cTc		Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.							77.0	72.0	74.0					15																	59186379		2188	4286	6474	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59186379G>A	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1391C>T	15.37:g.59186379G>A	ENSP00000369887:p.Pro464Leu					SLTM_uc002afn.3_Missense_Mutation_p.P33L|SLTM_uc002afo.3_Missense_Mutation_p.P446L|SLTM_uc002afq.3_Missense_Mutation_p.P33L|SLTM_uc010bgd.3_Missense_Mutation_p.P33L	p.P464L	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN			10	1479	-			464					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.1391C>T	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	G	19.09	3.760470	0.69763	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328;ENST00000249736	D;T;T	0.88664	-2.41;-0.85;-0.85	5.46	4.54	0.55810	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.52532	D	0.000062	D	0.86781	0.6015	L	0.60904	1.88	0.80722	D	1	P;B	0.48294	0.908;0.069	B;B	0.40285	0.325;0.09	D	0.87621	0.2510	10	0.72032	D	0.01	.	14.376	0.66879	0.0715:0.0:0.9285:0.0	.	464;33	Q9NWH9;A8K5V8	SLTM_HUMAN;.	L	464;57;33;446	ENSP00000369887:P464L;ENSP00000411534:P57L;ENSP00000249736:P446L	ENSP00000249736:P446L	P	-	2	0	SLTM	56973671	1.000000	0.71417	1.000000	0.80357	0.778000	0.44026	9.054000	0.93866	1.292000	0.44672	-0.157000	0.13467	CCC		0.318	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755	
GCNT3	9245	broad.mit.edu	37	15	59911701	59911701	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:59911701C>T	ENST00000396065.1	+	3	1712	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	GCNT3_ENST00000560585.1_Nonsense_Mutation_p.Q422*	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	422					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|immunoglobulin production in mucosal tissue (GO:0002426)|intestinal absorption (GO:0050892)|kidney morphogenesis (GO:0060993)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|tissue morphogenesis (GO:0048729)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0047225)|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAATGCTCTTCAGTGCTTAGA	0.458																																						uc002age.3																			0				central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1264-1266)Cag>Tag		Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.							152.0	152.0	152.0					15																	59911701		2190	4290	6480	SO:0001587	stop_gained	9245				protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr15:59911701C>T	AF102542	CCDS10172.1	15q22	2013-02-25			ENSG00000140297	ENSG00000140297	2.4.1.102, 2.4.1.150	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4205	protein-coding gene	gene with protein product		606836				9915862, 9988682	Standard	NM_004751		Approved	C2GnT-M, C2/4GnT, C2GnT2	uc002age.3	O95395	OTTHUMG00000132726	ENST00000396065.1:c.1264C>T	15.37:g.59911701C>T	ENSP00000379377:p.Gln422*					GCNT3_uc002agd.3_Nonsense_Mutation_p.Q422*|GCNT3_uc021smz.1_Nonsense_Mutation_p.Q422*	p.Q422*	NM_004751	NP_004742	O95395	GCNT3_HUMAN			2	1713	+			422						Nonsense_Mutation	SNP	ENST00000396065.1	37	c.1264C>T	CCDS10172.1	.	.	.	.	.	.	.	.	.	.	C	38	7.015997	0.98006	.	.	ENSG00000140297	ENST00000396065	.	.	.	5.22	5.22	0.72569	.	0.110652	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12766	T	0.61	.	13.8841	0.63698	0.0:0.7194:0.2806:0.0	.	.	.	.	X	422	.	ENSP00000379377:Q422X	Q	+	1	0	GCNT3	57698993	0.195000	0.23338	1.000000	0.80357	0.184000	0.23303	0.795000	0.26972	2.437000	0.82529	0.655000	0.94253	CAG		0.458	GCNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256068.1	NM_004751	
RASGRF1	5923	broad.mit.edu	37	15	79320175	79320175	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:79320175G>A	ENST00000419573.3	-	9	1563	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	RASGRF1_ENST00000558480.2_Missense_Mutation_p.T430M|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	430					activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATGTTCTCCGTCTCACTTAC	0.547																																						uc002beq.3																			0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1288-1290)aCg>aTg		Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.							237.0	191.0	207.0					15																	79320175		2196	4293	6489	SO:0001583	missense	5923				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	g.chr15:79320175G>A	M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1289C>T	15.37:g.79320175G>A	ENSP00000405963:p.Thr430Met					RASGRF1_uc002bep.3_Missense_Mutation_p.T430M|RASGRF1_uc010blm.1_Missense_Mutation_p.T352M|RASGRF1_uc002ber.4_Missense_Mutation_p.T430M	p.T430M	NM_002891	NP_002882	Q13972	RGRF1_HUMAN			8	1664	-			430					F8VPA5|H0YKF2|J3KQP9|Q16027	Missense_Mutation	SNP	ENST00000419573.3	37	c.1289C>T	CCDS10309.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.351151	0.82132	.	.	ENSG00000058335	ENST00000419573;ENST00000394741	T	0.67171	-0.25	4.09	4.09	0.47781	Dbl homology (DH) domain (2);	0.000000	0.85682	D	0.000000	T	0.81413	0.4817	M	0.81239	2.535	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.994;0.968;0.997	D	0.84074	0.0381	10	0.62326	D	0.03	.	13.9228	0.63942	0.0:0.0:1.0:0.0	.	430;430;430;430	A8K270;Q8IUU5;Q13972;F8VPA5	.;.;RGRF1_HUMAN;.	M	430	ENSP00000405963:T430M	ENSP00000378224:T430M	T	-	2	0	RASGRF1	77107230	1.000000	0.71417	0.978000	0.43139	0.907000	0.53573	7.525000	0.81892	2.118000	0.64928	0.479000	0.44913	ACG		0.547	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000291371.3	NM_002891	
RPL3L	6123	broad.mit.edu	37	16	2002950	2002950	+	Missense_Mutation	SNP	C	C	T	rs199937754		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:2002950C>T	ENST00000268661.7	-	3	384	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	RPL3L_ENST00000566484.1_5'Flank	NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	97					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)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|ribosome (GO:0005840)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGGAGACCTCGAGGGGTGGC	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17654	0.0		0.0	False		,,,				2504	0.0					uc002cnh.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(289-291)cGa>cAa		Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.							73.0	68.0	70.0					16																	2002950		2199	4300	6499	SO:0001583	missense	6123				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome	g.chr16:2002950C>T	U65581	CCDS10450.1	16p13.3	2008-02-05			ENSG00000140986	ENSG00000140986		"""L ribosomal proteins"""	10351	protein-coding gene	gene with protein product						8921388	Standard	NM_005061		Approved		uc002cnh.3	Q92901	OTTHUMG00000128685	ENST00000268661.7:c.290G>A	16.37:g.2002950C>T	ENSP00000268661:p.Arg97Gln					TCRBV20S1_uc021tak.1_Intron	p.R97Q	NM_005061	NP_005052	Q92901	RL3L_HUMAN			2	337	-			97						Missense_Mutation	SNP	ENST00000268661.7	37	c.290G>A	CCDS10450.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	13.92	2.379629	0.42207	.	.	ENSG00000140986	ENST00000268661	T	0.43294	0.95	5.28	5.28	0.74379	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.152783	0.43919	D	0.000520	T	0.29458	0.0734	L	0.45285	1.41	0.34102	D	0.661928	P	0.44260	0.83	B	0.30943	0.122	T	0.51663	-0.8677	10	0.46703	T	0.11	-21.2438	11.3279	0.49458	0.0:0.9073:0.0:0.0927	.	97	Q92901	RL3L_HUMAN	Q	97	ENSP00000268661:R97Q	ENSP00000268661:R97Q	R	-	2	0	RPL3L	1942951	0.994000	0.37717	0.579000	0.28588	0.605000	0.37080	3.720000	0.54933	2.479000	0.83701	0.609000	0.83330	CGA		0.607	RPL3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250582.2	NM_005061	
ATF7IP2	80063	broad.mit.edu	37	16	10524503	10524503	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:10524503G>A	ENST00000396560.2	+	3	253	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R9Q|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R9Q|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R9Q	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						AGAAGTAAACGGAAGATATTA	0.348																																						uc002czw.3																			0				large_intestine(3)	3						c.(25-27)cGg>cAg		Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.							65.0	63.0	64.0					16																	10524503		2197	4299	6496	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10524503G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.26G>A	16.37:g.10524503G>A	ENSP00000379808:p.Arg9Gln					ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.R9Q|ATF7IP2_uc002czv.3_Missense_Mutation_p.R9Q|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	p.R9Q	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			1	185	+			9					B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.26G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617804	0.46736	.	.	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T	0.25579	1.79;1.79	5.25	0.262	0.15597	.	0.325526	0.21983	N	0.066280	T	0.10895	0.0266	L	0.34521	1.04	0.09310	N	1	P;P	0.39352	0.626;0.669	B;B	0.24006	0.05;0.043	T	0.20009	-1.0288	10	0.30078	T	0.28	-0.1419	3.6453	0.08182	0.3596:0.1912:0.4492:0.0	.	9;9	Q5U623-2;Q5U623	.;MCAF2_HUMAN	Q	9	ENSP00000379808:R9Q;ENSP00000348799:R9Q	ENSP00000322811:R9Q	R	+	2	0	ATF7IP2	10432004	0.651000	0.27340	0.767000	0.31495	0.969000	0.65631	0.333000	0.19768	0.179000	0.19938	0.467000	0.42956	CGG		0.348	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997	
ABCC1	4363	broad.mit.edu	37	16	16218658	16218658	+	Silent	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:16218658G>A	ENST00000399410.3	+	25	3778	c.3603G>A	c.(3601-3603)gtG>gtA	p.V1201V	ABCC1_ENST00000349029.5_Silent_p.V1086V|ABCC1_ENST00000351154.5_Silent_p.V1142V|ABCC1_ENST00000399408.2_Silent_p.V1211V|ABCC1_ENST00000345148.5_Silent_p.V1201V|ABCC1_ENST00000346370.5_Silent_p.V1145V	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1201	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GGCTGGCCGTGCGGCTGGAGT	0.592																																						uc010bvi.3																			0				breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56						c.(3601-3603)gtG>gtA		Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						78.0	87.0	84.0					16																	16218658		2165	4270	6435	SO:0001819	synonymous_variant	4363				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:16218658G>A	L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.3603G>A	16.37:g.16218658G>A						ABCC1_uc010bvj.3_Silent_p.V1142V|ABCC1_uc010bvk.3_Silent_p.V1145V|ABCC1_uc010bvl.3_Silent_p.V1201V|ABCC1_uc010bvm.3_Silent_p.V1086V|ABCC1_uc002del.4_Silent_p.V1095V|ABCC1_uc021tds.1_Intron|ABCC1_uc021tdt.1_Intron	p.V1201V	NM_004996	NP_004987	P33527	MRP1_HUMAN			24	3778	+			1201			ABC transmembrane type-1 2.		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Silent	SNP	ENST00000399410.3	37	c.3603G>A	CCDS42122.1																																																																																				0.592	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109701.1	NM_004996	
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-	rs140499762		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gccagc>gcc	p.S592del	SLC5A11_ENST00000539472.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.S528del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.S557del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.S557del|SLC5A11_ENST00000569071.1_In_Frame_Del_p.S436del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.S436del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.S522del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.S522del	NM_052944.3	NP_443176.2			solute carrier family 5 (sodium/inositol cotransporter), member 11											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542																																						uc002dmu.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49						c.(1759-1764)gccagc>gcc		Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.				0,59,4205		0,0,0,0,59,2073						2.3	0.0		dbSNP_134	91	12,151,8089		0,0,12,0,151,3963	no	codingComplex	SLC5A11	NM_052944.2		0,0,12,0,210,6036	A1A1,A1A2,A1R,A2A2,A2R,RR		1.9753,1.3837,1.7737				12,210,12294				SO:0001651	inframe_deletion	115584				apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	g.chr16:24921737_24921739delCAG	AF292385	CCDS10625.1, CCDS58437.1, CCDS58438.1, CCDS58439.1, CCDS58440.1	16p12.1	2013-07-19	2013-07-19		ENSG00000158865	ENSG00000158865		"""Solute carriers"""	23091	protein-coding gene	gene with protein product		610238	"""solute carrier family 5 (sodium/glucose cotransporter), member 11"""			12039040, 12133831	Standard	NM_001258414		Approved	KST1, SMIT2, SGLT6	uc002dmu.4	Q8WWX8	OTTHUMG00000097003	ENST00000347898.3:c.1761_1763delCAG	16.37:g.24921746_24921748delCAG	ENSP00000289932:p.Ser592del					SLC5A11_uc002dms.3_In_Frame_Del_p.S528del|SLC5A11_uc010vcd.2_In_Frame_Del_p.S557del|SLC5A11_uc002dmt.3_In_Frame_Del_p.S436del|SLC5A11_uc010vce.2_In_Frame_Del_p.S522del|SLC5A11_uc010bxt.3_In_Frame_Del_p.S528del|SLC5A11_uc002dmv.3_In_Frame_Del_p.S215del	p.S592del	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN		GBM - Glioblastoma multiforme(48;0.0365)	14	1992_1994	+			592						In_Frame_Del	DEL	ENST00000347898.3	37	c.1761_1763delCAG	CCDS10625.1																																																																																				0.542	SLC5A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214091.3	NM_052944	
CLEC3A	10143	broad.mit.edu	37	16	78064579	78064579	+	Silent	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:78064579C>T	ENST00000575655.1	+	3	516	c.435C>T	c.(433-435)aaC>aaT	p.N145N	CLEC3A_ENST00000299642.4_Silent_p.N154N|RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000565808.1_3'UTR	NM_005752.4	NP_005743.4	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	145	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				skeletal system development (GO:0001501)	extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TTGACGTCAACGGAATCGCTA	0.527																																						uc002ffh.4																			0				NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						c.(433-435)aaC>aaT		Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.							143.0	120.0	128.0					16																	78064579		2198	4300	6498	SO:0001819	synonymous_variant	10143				skeletal system development	extracellular region	sugar binding	g.chr16:78064579C>T	AF077345	CCDS10927.1, CCDS10927.2	16q23	2008-02-05	2005-02-09	2005-02-11	ENSG00000166509	ENSG00000166509		"""C-type lectin domain containing"""	2052	protein-coding gene	gene with protein product		613588	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 1 (cartilage-derived)"""	CLECSF1		10524194	Standard	NM_001244755		Approved		uc002ffh.5	O75596	OTTHUMG00000137620	ENST00000575655.1:c.435C>T	16.37:g.78064579C>T						CLEC3A_uc021tlr.1_Silent_p.N93N	p.N145N	NM_005752	NP_005743	O75596	CLC3A_HUMAN			2	516	+			145			C-type lectin.		B2R8C4|Q3SX91|Q6UXF5	Silent	SNP	ENST00000575655.1	37	c.435C>T																																																																																					0.527	CLEC3A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005752	
MYH1	4619	broad.mit.edu	37	17	10415407	10415407	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:10415407C>A	ENST00000226207.5	-	13	1344	c.1250G>T	c.(1249-1251)gGt>gTt	p.G417V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	417	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACAGTTTGACCTTTGGTGAC	0.463																																						uc002gmo.3																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(1249-1251)gGt>gTt		Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.							346.0	303.0	318.0					17																	10415407		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10415407C>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.1250G>T	17.37:g.10415407C>A	ENSP00000226207:p.Gly417Val					AK097500_uc002gml.1_Intron	p.G417V	NM_005963	NP_005954	P12882	MYH1_HUMAN			12	1344	-			417			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.1250G>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.065331	0.55432	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.87103	-2.21	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.000000	0.44097	U	0.000494	D	0.94331	0.8178	M	0.82433	2.59	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94269	0.7509	10	0.87932	D	0	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	417	P12882	MYH1_HUMAN	V	417	ENSP00000226207:G417V	ENSP00000226207:G417V	G	-	2	0	MYH1	10356132	1.000000	0.71417	1.000000	0.80357	0.034000	0.12701	7.697000	0.84279	2.861000	0.98227	0.655000	0.94253	GGT		0.463	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYO19	80179	broad.mit.edu	37	17	34864958	34864958	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:34864958C>T	ENST00000431794.3	-	14	1696	c.1174G>A	c.(1174-1176)Gta>Ata	p.V392I	MYO19_ENST00000268852.9_Missense_Mutation_p.V392I	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	392	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCACTGATACCAGCCAGTCA	0.537																																						uc010wcy.2																			0		p.V392V(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(1174-1176)Gta>Ata		Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.							53.0	58.0	56.0					17																	34864958		2016	4192	6208	SO:0001583	missense	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34864958C>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1174G>A	17.37:g.34864958C>T	ENSP00000409936:p.Val392Ile					MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.V392I|MYO19_uc010wcz.1_Non-coding_Transcript	p.V392I	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	14	2166	-		Breast(25;0.00957)|Ovarian(249;0.17)	392			Myosin head-like.		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	c.1174G>A	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	C	33	5.237444	0.95240	.	.	ENSG00000141140	ENST00000415126;ENST00000431794;ENST00000268852	D;D	0.88664	-2.41;-2.41	5.75	5.75	0.90469	Myosin head, motor domain (2);	0.000000	0.38436	N	0.001699	D	0.94003	0.8079	M	0.65677	2.01	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.983;0.996	D	0.94163	0.7416	10	0.87932	D	0	.	18.5215	0.90954	0.0:1.0:0.0:0.0	.	392;392	Q96H55;Q96H55-4	MYO19_HUMAN;.	I	127;392;392	ENSP00000409936:V392I;ENSP00000268852:V392I	ENSP00000268852:V392I	V	-	1	0	MYO19	31939071	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.333000	0.65917	2.714000	0.92807	0.563000	0.77884	GTA		0.537	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109	
MPP3	4356	broad.mit.edu	37	17	41898381	41898381	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:41898381C>T	ENST00000398389.4	-	11	895	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	MPP3_ENST00000398393.1_Missense_Mutation_p.A269T	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	244	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CAAGGGATGGCCCGGTCCTCC	0.677																																						uc002ieh.3																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26						c.(805-807)Gcc>Acc		Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.							24.0	28.0	27.0					17																	41898381		1972	4143	6115	SO:0001583	missense	4356				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity	g.chr17:41898381C>T		CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.730G>A	17.37:g.41898381C>T	ENSP00000381425:p.Ala244Thr					MPP3_uc002iei.4_Missense_Mutation_p.A244T|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Missense_Mutation_p.A244T|MPP3_uc010wik.2_Missense_Mutation_p.A269T	p.A269T	NM_001932	NP_001923	Q13368	MPP3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.119)	8	1066	-		Breast(137;0.00394)	244			SH3.		B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	ENST00000398389.4	37	c.805G>A	CCDS42344.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510073	0.85282	.	.	ENSG00000161647	ENST00000398393;ENST00000398389;ENST00000356492	T;T	0.40756	1.02;1.02	4.57	4.57	0.56435	Src homology-3 domain (3);Variant SH3 (1);	0.000000	0.85682	D	0.000000	T	0.52885	0.1762	L	0.38175	1.15	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.85130	0.997;0.971;0.971	T	0.40683	-0.9550	10	0.15499	T	0.54	.	17.567	0.87922	0.0:1.0:0.0:0.0	.	269;244;269	B4DS20;Q13368;D3DX46	.;MPP3_HUMAN;.	T	269;244;269	ENSP00000381430:A269T;ENSP00000381425:A244T	ENSP00000348885:A269T	A	-	1	0	MPP3	39253907	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.651000	0.83577	2.378000	0.81104	0.561000	0.74099	GCC		0.677	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258371.1	NM_001932	
SPIRE1	56907	broad.mit.edu	37	18	12496095	12496095	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr18:12496095C>A	ENST00000409402.4	-	7	1246	c.979G>T	c.(979-981)Ggt>Tgt	p.G327C	SPIRE1_ENST00000410092.3_Missense_Mutation_p.G327C|SPIRE1_ENST00000383356.2_Missense_Mutation_p.G168C|SPIRE1_ENST00000453447.2_Missense_Mutation_p.G207C|SPIRE1_ENST00000464481.1_5'Flank|SPIRE1_ENST00000309836.5_Missense_Mutation_p.G130C	NM_001128626.1	NP_001122098.1			spire-type actin nucleation factor 1											breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGAATATCACCATTCACCTAA	0.358																																						uc002kre.3																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						c.(979-981)Ggt>Tgt		Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.							98.0	97.0	97.0					18																	12496095		2203	4300	6503	SO:0001583	missense	56907					cytoskeleton|perinuclear region of cytoplasm	actin binding	g.chr18:12496095C>A	AL833817	CCDS32790.2, CCDS45829.1, CCDS45830.1	18p11.21	2013-08-27	2013-08-27		ENSG00000134278	ENSG00000134278			30622	protein-coding gene	gene with protein product		609216	"""spire homolog 1 (Drosophila)"", ""spire family actin nucleation factor 1"""			10574461, 11747823	Standard	NM_001128626		Approved	spir-1, KIAA1135	uc002kre.3	Q08AE8	OTTHUMG00000153940	ENST00000409402.4:c.979G>T	18.37:g.12496095C>A	ENSP00000387266:p.Gly327Cys					SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Missense_Mutation_p.G207C|SPIRE1_uc010wzx.2_Missense_Mutation_p.G130C|SPIRE1_uc010wzy.2_Missense_Mutation_p.G327C	p.G327C	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN			6	1026	-			327						Missense_Mutation	SNP	ENST00000409402.4	37	c.979G>T	CCDS45829.1	.	.	.	.	.	.	.	.	.	.	C	28.8	4.947867	0.92593	.	.	ENSG00000134278	ENST00000453447;ENST00000409402;ENST00000410092;ENST00000309836;ENST00000383356	T;T;T;T;T	0.55413	0.53;1.13;1.1;0.55;0.52	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.76147	0.3947	M	0.80332	2.49	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.78250	-0.2277	10	0.87932	D	0	-10.9914	19.9598	0.97242	0.0:1.0:0.0:0.0	.	327;130;327	Q08AE8-2;B4DWX0;Q08AE8	.;.;SPIR1_HUMAN	C	207;327;327;130;168	ENSP00000407050:G207C;ENSP00000387266:G327C;ENSP00000387226:G327C;ENSP00000309661:G130C;ENSP00000372847:G168C	ENSP00000309661:G130C	G	-	1	0	SPIRE1	12486095	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.157000	0.77461	2.716000	0.92895	0.655000	0.94253	GGT		0.358	SPIRE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333109.2	XM_290818	
ILF3	3609	broad.mit.edu	37	19	10798360	10798360	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:10798360G>A	ENST00000590261.1	+	17	2398	c.2398G>A	c.(2398-2400)Gac>Aac	p.D800N	ILF3_ENST00000318511.3_Missense_Mutation_p.D800N|ILF3_ENST00000449870.1_Missense_Mutation_p.D804N|ILF3_ENST00000588657.1_Missense_Mutation_p.D804N|ILF3_ENST00000586544.1_3'UTR			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	800	Interaction with PRMT1.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGCGGATCCGACTACAACTA	0.617																																						uc002mpn.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(2398-2400)Gac>Aac		Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.							33.0	39.0	37.0					19																	10798360		2203	4300	6503	SO:0001583	missense	3609				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding	g.chr19:10798360G>A	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.2398G>A	19.37:g.10798360G>A	ENSP00000468156:p.Asp800Asn					ILF3_uc002mpo.3_Missense_Mutation_p.D804N|ILF3_uc002mpq.3_Silent_p.P102P	p.D800N	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)		17	2715	+			800			Interaction with PRMT1.		A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Missense_Mutation	SNP	ENST00000590261.1	37	c.2398G>A	CCDS12246.1	.	.	.	.	.	.	.	.	.	.	G	18.80	3.701678	0.68501	.	.	ENSG00000129351	ENST00000449870;ENST00000318511	T;T	0.16597	2.33;2.33	5.15	4.12	0.48240	.	0.354533	0.29133	N	0.013053	T	0.11623	0.0283	N	0.19112	0.55	0.80722	D	1	B;B	0.17465	0.022;0.013	B;B	0.09377	0.004;0.002	T	0.06110	-1.0845	10	0.72032	D	0.01	.	10.8091	0.46535	0.0887:0.0:0.9113:0.0	.	804;800	G5E9M5;Q12906	.;ILF3_HUMAN	N	804;800	ENSP00000404121:D804N;ENSP00000315205:D800N	ENSP00000315205:D800N	D	+	1	0	ILF3	10659360	1.000000	0.71417	0.891000	0.34965	0.976000	0.68499	6.494000	0.73661	1.403000	0.46800	0.655000	0.94253	GAC		0.617	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		
LDLR	3949	broad.mit.edu	37	19	11233883	11233883	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:11233883C>A	ENST00000558518.1	+	15	2361	c.2174C>A	c.(2173-2175)tCc>tAc	p.S725Y	LDLR_ENST00000557933.1_Missense_Mutation_p.S725Y|LDLR_ENST00000558013.1_Missense_Mutation_p.S725Y|LDLR_ENST00000535915.1_Missense_Mutation_p.S684Y|LDLR_ENST00000545707.1_Missense_Mutation_p.S547Y|LDLR_ENST00000455727.2_Missense_Mutation_p.S557Y	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	725	Clustered O-linked oligosaccharides.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CAGGAGACATCCACCGTCAGG	0.607																																					GBM(18;201 575 7820 21545)	uc002mqk.4																			0				breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(2173-2175)tCc>tAc		Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)						156.0	118.0	131.0					19																	11233883		2203	4300	6503	SO:0001583	missense	3949				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	g.chr19:11233883C>A	AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.2174C>A	19.37:g.11233883C>A	ENSP00000454071:p.Ser725Tyr					LDLR_uc010xlk.2_Missense_Mutation_p.S725Y|LDLR_uc010xll.2_Missense_Mutation_p.S684Y|LDLR_uc021upc.1_Missense_Mutation_p.S604Y|LDLR_uc010xln.2_Missense_Mutation_p.S547Y|LDLR_uc010xlo.2_Missense_Mutation_p.S557Y|LDLR_uc010xlm.2_Missense_Mutation_p.S578Y|LDLR_uc021upd.1_Missense_Mutation_p.S462Y	p.S725Y	NM_000527	NP_000518	P01130	LDLR_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	14	2361	+		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)	725			Clustered O-linked oligosaccharides.		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	ENST00000558518.1	37	c.2174C>A	CCDS12254.1	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647757	0.29336	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.90676	-2.71;-2.67;-2.71	3.96	1.65	0.23941	Growth factor, receptor (1);	2.239590	0.02528	U	0.093294	D	0.92143	0.7509	M	0.73598	2.24	0.09310	N	0.999999	D;D;P;P;P;P	0.57571	0.966;0.98;0.744;0.62;0.744;0.62	B;P;B;B;B;B	0.50440	0.423;0.641;0.252;0.252;0.252;0.252	T	0.76391	-0.2976	10	0.72032	D	0.01	.	4.6732	0.12699	0.2105:0.663:0.0:0.1265	.	557;547;604;684;737;725	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	Y	725;547;684;557	ENSP00000437639:S547Y;ENSP00000440520:S684Y;ENSP00000397829:S557Y	ENSP00000252444:S725Y	S	+	2	0	LDLR	11094883	0.001000	0.12720	0.001000	0.08648	0.119000	0.20118	1.013000	0.29937	0.324000	0.23333	0.563000	0.77884	TCC		0.607	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415973.2		
FBL	2091	broad.mit.edu	37	19	40328442	40328442	+	Silent	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:40328442G>A	ENST00000221801.3	-	6	704	c.591C>T	c.(589-591)ggC>ggT	p.G197G	FBL_ENST00000593503.1_5'UTR	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	197					histone glutamine methylation (GO:1990258)|osteoblast differentiation (GO:0001649)|rRNA processing (GO:0006364)|snoRNA metabolic process (GO:0016074)|tRNA processing (GO:0008033)	box C/D snoRNP complex (GO:0031428)|Cajal body (GO:0015030)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone-glutamine methyltransferase activity (GO:1990259)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TGAGGTCACGGCCAGAGCGGT	0.473																																						uc002omn.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9						c.(589-591)ggC>ggT		Homo sapiens fibrillarin (FBL), mRNA.							139.0	108.0	118.0					19																	40328442		2203	4300	6503	SO:0001819	synonymous_variant	2091				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding	g.chr19:40328442G>A	AC005393	CCDS12545.1	19q13.1	2010-02-17			ENSG00000105202	ENSG00000105202			3599	protein-coding gene	gene with protein product		134795				1846968, 2026646	Standard	NM_001436		Approved	RNU3IP1, FLRN, FIB	uc002omn.3	P22087		ENST00000221801.3:c.591C>T	19.37:g.40328442G>A						FBL_uc002omm.1_Silent_p.G111G|FBL_uc002omo.2_Silent_p.G196G	p.G197G	NM_001436	NP_001427	P22087	FBRL_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)	5	705	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	197					B5BUE8|O75259|Q6IAT5|Q9UPI6	Silent	SNP	ENST00000221801.3	37	c.591C>T	CCDS12545.1																																																																																				0.473	FBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462509.4	NM_001436	
ZNF180	7733	broad.mit.edu	37	19	44981674	44981674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:44981674G>A	ENST00000221327.4	-	5	1305	c.1024C>T	c.(1024-1026)Caa>Taa	p.Q342*	ZNF180_ENST00000592529.1_Nonsense_Mutation_p.Q315*|ZNF180_ENST00000391956.4_Nonsense_Mutation_p.Q317*|AC069278.4_ENST00000591684.1_lincRNA|ZNF180_ENST00000585514.1_5'Flank	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	342					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)				CTCATGTTTTGAGTAAGGGAG	0.378																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)	uc002ozf.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33						c.(1024-1026)Caa>Taa		Homo sapiens zinc finger protein 180 (ZNF180), mRNA.							72.0	76.0	74.0					19																	44981674		2203	4300	6503	SO:0001587	stop_gained	7733				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44981674G>A	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.1024C>T	19.37:g.44981674G>A	ENSP00000221327:p.Gln342*					ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Nonsense_Mutation_p.Q315*|ZNF180_uc002ozg.4_Nonsense_Mutation_p.Q341*|ZNF180_uc010ejm.3_Nonsense_Mutation_p.Q317*	p.Q342*	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN			4	1306	-		Prostate(69;0.0435)	342					B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Nonsense_Mutation	SNP	ENST00000221327.4	37	c.1024C>T	CCDS12639.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042502	0.55003	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	.	.	.	4.76	1.31	0.21738	.	0.660669	0.12737	N	0.443354	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-1.6316	9.3363	0.38051	0.0:0.2846:0.57:0.1454	.	.	.	.	X	342;317	.	ENSP00000221327:Q342X	Q	-	1	0	ZNF180	49673514	0.000000	0.05858	0.015000	0.15790	0.206000	0.24218	-0.103000	0.10940	1.186000	0.42985	-0.176000	0.13171	CAA		0.378	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256	
FPR3	2359	broad.mit.edu	37	19	52327921	52327921	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:52327921G>A	ENST00000339223.4	+	2	1099	c.920G>A	c.(919-921)cGt>cAt	p.R307H	FPR3_ENST00000595991.1_Missense_Mutation_p.R307H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	307					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTTATGGGTCGTAACTTCCAA	0.473																																						uc002pxt.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						c.(919-921)cGt>cAt		Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.							130.0	125.0	127.0					19																	52327921		2203	4300	6503	SO:0001583	missense	2359				cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52327921G>A		CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.920G>A	19.37:g.52327921G>A	ENSP00000341821:p.Arg307His					FPR3_uc021uyq.1_Missense_Mutation_p.R307H	p.R307H	NM_002030	NP_002021	P25089	FPR3_HUMAN			1	1104	+			307						Missense_Mutation	SNP	ENST00000339223.4	37	c.920G>A	CCDS12841.1	.	.	.	.	.	.	.	.	.	.	.	1.268	-0.613931	0.03690	.	.	ENSG00000187474	ENST00000339223	T	0.39592	1.07	2.34	-4.68	0.03309	.	0.818789	0.10312	N	0.689855	T	0.25158	0.0611	N	0.16266	0.395	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.15723	-1.0427	10	0.54805	T	0.06	.	12.3051	0.54898	0.2252:0.0:0.7748:0.0	.	307	P25089	FPR3_HUMAN	H	307	ENSP00000341821:R307H	ENSP00000341821:R307H	R	+	2	0	FPR3	57019733	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.232000	0.09055	-1.239000	0.02532	-1.842000	0.00583	CGT		0.473	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466914.1	NM_002030	
DYNC2LI1	51626	broad.mit.edu	37	2	44023908	44023908	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr2:44023908G>A	ENST00000260605.8	+	8	728	c.628G>A	c.(628-630)Gca>Aca	p.A210T	DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.A84T|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.A211T	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	210					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCGATTTGTTGCACATTATTA	0.343																																						uc002rtl.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26						c.(631-633)Gca>Aca		Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.							167.0	153.0	158.0					2																	44023908		2203	4300	6503	SO:0001583	missense	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44023908G>A		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.628G>A	2.37:g.44023908G>A	ENSP00000260605:p.Ala210Thr					DYNC2LI1_uc002rtk.3_Missense_Mutation_p.A210T|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.A84T|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.A84T	p.A211T	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN			7	731	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	210					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.631G>A	CCDS1813.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.061523	0.76187	.	.	ENSG00000138036	ENST00000260605;ENST00000443170	T;T	0.18502	2.21;2.21	5.13	4.19	0.49359	.	0.154990	0.56097	D	0.000035	T	0.38108	0.1028	M	0.87758	2.905	0.53688	D	0.999972	D;D;D	0.56287	0.975;0.958;0.975	P;P;P	0.54372	0.75;0.567;0.75	T	0.37407	-0.9707	10	0.56958	D	0.05	-19.6508	13.1029	0.59231	0.0:0.0:0.7793:0.2207	.	211;210;210	Q8TCX1-2;Q8TCX1;Q8TCX1-3	.;DC2L1_HUMAN;.	T	210;84	ENSP00000260605:A210T;ENSP00000388941:A84T	ENSP00000260605:A210T	A	+	1	0	DYNC2LI1	43877412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.699000	0.54778	2.662000	0.90505	0.650000	0.86243	GCA		0.343	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008	
ZRANB3	84083	broad.mit.edu	37	2	135960424	135960424	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr2:135960424A>G	ENST00000264159.6	-	20	3235	c.3119T>C	c.(3118-3120)cTc>cCc	p.L1040P	ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.L1038P|ZRANB3_ENST00000401392.1_Missense_Mutation_p.L1038P	NM_032143.2	NP_115519.2	Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	1040	Endonuclease activity.|HNH.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|DNA rewinding (GO:0036292)|DNA strand renaturation (GO:0000733)|negative regulation of DNA recombination (GO:0045910)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to UV (GO:0009411)	nuclear replication fork (GO:0043596)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|endodeoxyribonuclease activity (GO:0004520)|helicase activity (GO:0004386)|K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GACTGTGCAGAGAGTCTGCAG	0.478																																						uc002tum.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20						c.(3118-3120)cTc>cCc		Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.							81.0	80.0	80.0					2																	135960424		2000	4180	6180	SO:0001583	missense	84083					intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding	g.chr2:135960424A>G	AL136824	CCDS46419.1, CCDS67963.1, CCDS74580.1	2q21.3	2013-05-13			ENSG00000121988	ENSG00000121988		"""Zinc fingers, RAN-binding domain containing"""	25249	protein-coding gene	gene with protein product						11230166	Standard	XM_005263809		Approved	DKFZP434B1727	uc002tum.3	Q5FWF4	OTTHUMG00000150475	ENST00000264159.6:c.3119T>C	2.37:g.135960424A>G	ENSP00000264159:p.Leu1040Pro					ZRANB3_uc002tuk.3_Missense_Mutation_p.L583P|ZRANB3_uc002tul.3_Missense_Mutation_p.L1038P	p.L1040P	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.135)	19	3236	-			1040					B3KYA1|B4E375|B5MDI3|D3DP76|E9PBP0|Q53SM1|Q6P2C4|Q8N1P4|Q9H0E8	Missense_Mutation	SNP	ENST00000264159.6	37	c.3119T>C	CCDS46419.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.620243	0.87460	.	.	ENSG00000121988	ENST00000538542;ENST00000283060;ENST00000401392;ENST00000264159;ENST00000536680	D;D;D	0.97328	-4.34;-4.34;-4.32	5.47	5.47	0.80525	HNH nuclease (1);HNH endonuclease (1);	0.000000	0.85682	D	0.000000	D	0.99093	0.9688	H	0.98199	4.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99123	1.0850	10	0.87932	D	0	-17.2381	15.5387	0.76024	1.0:0.0:0.0:0.0	.	1040;1038	Q5FWF4;Q5FWF4-3	ZRAB3_HUMAN;.	P	503;503;1038;1040;1038	ENSP00000383979:L1038P;ENSP00000264159:L1040P;ENSP00000441320:L1038P	ENSP00000264159:L1040P	L	-	2	0	ZRANB3	135676894	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.228000	0.95250	2.063000	0.61619	0.460000	0.39030	CTC		0.478	ZRANB3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318254.1	NM_032143	
MMP24	10893	broad.mit.edu	37	20	33851598	33851598	+	Silent	SNP	C	C	T	rs201850633		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr20:33851598C>T	ENST00000246186.6	+	5	907	c.822C>T	c.(820-822)aaC>aaT	p.N274N	MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000453892.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	274					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	CCACAGGGAACGACCTCTTCC	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		19065	0.0		0.001	False		,,,				2504	0.0					uc002xbu.2																			0				NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(820-822)aaC>aaT		Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.							17.0	18.0	18.0					20																	33851598		2201	4298	6499	SO:0001819	synonymous_variant	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33851598C>T	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.822C>T	20.37:g.33851598C>T						EDEM2_uc010zuv.1_Intron	p.N274N	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	825	+			274					B7ZBG8|Q9H440	Silent	SNP	ENST00000246186.6	37	c.822C>T	CCDS46593.1																																																																																				0.627	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690	
NUP210	23225	broad.mit.edu	37	3	13379344	13379344	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:13379344C>T	ENST00000254508.5	-	26	3627	c.3545G>A	c.(3544-3546)gGc>gAc	p.G1182D	NUP210_ENST00000485755.1_Intron	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1182					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CACCTGGGTGCCCGTCCTCAT	0.627																																						uc003bxv.1																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(3544-3546)gGc>gAc		Homo sapiens nucleoporin 210kDa (NUP210), mRNA.							36.0	34.0	34.0					3																	13379344		2201	4300	6501	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13379344C>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.3545G>A	3.37:g.13379344C>T	ENSP00000254508:p.Gly1182Asp						p.G1182D	NM_024923	NP_079199	Q8TEM1	PO210_HUMAN			25	3628	-	all_neural(104;0.187)		1182					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.3545G>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695975	0.30052	.	.	ENSG00000132182	ENST00000254508	T	0.19250	2.16	4.86	3.98	0.46160	.	0.136998	0.47852	D	0.000201	T	0.39436	0.1078	M	0.67397	2.05	0.53688	D	0.999978	D	0.71674	0.998	D	0.65443	0.935	T	0.12344	-1.0551	10	0.40728	T	0.16	-19.6151	10.8821	0.46944	0.0:0.9098:0.0:0.0902	.	1182	Q8TEM1	PO210_HUMAN	D	1182	ENSP00000254508:G1182D	ENSP00000254508:G1182D	G	-	2	0	NUP210	13354344	0.945000	0.32115	0.774000	0.31636	0.017000	0.09413	3.579000	0.53900	1.166000	0.42689	0.655000	0.94253	GGC		0.627	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923	
XCR1	2829	broad.mit.edu	37	3	46063343	46063343	+	Missense_Mutation	SNP	C	C	T	rs140218706		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:46063343C>T	ENST00000309285.3	-	2	453	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	XCR1_ENST00000542109.1_Missense_Mutation_p.A33T	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	33					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol (GO:0051209)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGTGGTGGCGAGGGTAGCA	0.567																																						uc003cpe.3																			0				NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14						c.(97-99)Gcc>Acc		Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.		C	THR/ALA,THR/ALA	0,4406		0,0,2203	104.0	100.0	102.0		97,97	-5.3	0.0	3	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	XCR1	NM_001024644.1,NM_005283.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	33/334,33/334	46063343	1,13005	2203	4300	6503	SO:0001583	missense	2829				chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity	g.chr3:46063343C>T		CCDS2736.1	3p21.3-p21.1	2012-11-19	2006-01-13	2002-08-23	ENSG00000173578	ENSG00000173578		"""GPCR / Class A : Chemokine receptors : X-C motif"""	1625	protein-coding gene	gene with protein product		600552	"""chemokine (C motif) XC receptor 1"""	GPR5, CCXCR1		7832990, 10400311	Standard	NM_005283		Approved		uc003cpf.3	P46094	OTTHUMG00000133449	ENST00000309285.3:c.97G>A	3.37:g.46063343C>T	ENSP00000310405:p.Ala33Thr					AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.A33T|XCR1_uc021wwx.1_Missense_Mutation_p.A33T	p.A33T	NM_005283	NP_005274	P46094	XCR1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)	2	321	-			33						Missense_Mutation	SNP	ENST00000309285.3	37	c.97G>A	CCDS2736.1	.	.	.	.	.	.	.	.	.	.	C	1.726	-0.495405	0.04291	0.0	1.16E-4	ENSG00000173578	ENST00000309285;ENST00000542109;ENST00000395946	T;T	0.37584	1.19;1.19	5.03	-5.27	0.02763	.	1.580970	0.03170	N	0.170630	T	0.15696	0.0378	N	0.08118	0	0.09310	N	1	B	0.16396	0.017	B	0.08055	0.003	T	0.14420	-1.0473	10	0.59425	D	0.04	.	1.1447	0.01772	0.4247:0.1473:0.1295:0.2985	.	33	P46094	XCR1_HUMAN	T	33	ENSP00000310405:A33T;ENSP00000438119:A33T	ENSP00000310405:A33T	A	-	1	0	XCR1	46038347	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.002000	0.13061	-0.746000	0.04766	-1.128000	0.01989	GCC		0.567	XCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257322.2		
CP	1356	broad.mit.edu	37	3	148895735	148895735	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:148895735T>G	ENST00000264613.6	-	17	3172	c.2910A>C	c.(2908-2910)caA>caC	p.Q970H		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	970	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTGTGAGGCCTTGTAGGTTTC	0.378																																						uc003ewy.4																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2908-2910)caA>caC		Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	Drotrecogin alfa(DB00055)						212.0	182.0	192.0					3																	148895735		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148895735T>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2910A>C	3.37:g.148895735T>G	ENSP00000264613:p.Gln970His					CP_uc011bnr.2_Non-coding_Transcript|CP_uc003eww.4_Missense_Mutation_p.Q122H|CP_uc003ewx.4_Missense_Mutation_p.Q751H|CP_uc003ewz.3_Missense_Mutation_p.Q970H	p.Q970H	NM_000096	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		16	3163	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	970			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2910A>C	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	T	12.36	1.915383	0.33815	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99769	-6.7;-6.7;-6.7	5.78	-9.16	0.00694	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.795533	0.12204	N	0.490014	D	0.96078	0.8722	N	0.02391	-0.57	0.23893	N	0.996548	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.004;0.002;0.001	D	0.95059	0.8194	10	0.27785	T	0.31	-0.4884	5.7222	0.17992	0.6053:0.0634:0.1138:0.2174	.	970;970;970;683	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	H	105;970;753	ENSP00000420367:Q105H;ENSP00000264613:Q970H;ENSP00000420545:Q753H	ENSP00000264613:Q970H	Q	-	3	2	CP	150378425	0.063000	0.20901	0.030000	0.17652	0.939000	0.58152	-0.515000	0.06290	-0.912000	0.03837	0.455000	0.32223	CAA		0.378	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
MECOM	2122	broad.mit.edu	37	3	169099085	169099085	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:169099085C>A	ENST00000494292.1	-	2	362	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	89					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTCCTGCCCCAGGCATATTT	0.473																																						uc011bpj.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(265-267)Ggg>Tgg		Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.							123.0	115.0	117.0					3																	169099085		1853	4104	5957	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:169099085C>A	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.265G>T	3.37:g.169099085C>A	ENSP00000417899:p.Gly89Trp					MECOM_uc003ffl.2_Missense_Mutation_p.G61W|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G89W|MECOM_uc011bpl.1_Missense_Mutation_p.G89W	p.G89W	NM_004991	NP_004982	Q13465	MDS1_HUMAN			1	668	-			89					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000494292.1	37	c.265G>T		.	.	.	.	.	.	.	.	.	.	C	25.2	4.612977	0.87258	.	.	ENSG00000085276	ENST00000494292;ENST00000486748	T;T	0.56444	0.46;0.46	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000013	T	0.75302	0.3831	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.77437	-0.2588	10	0.87932	D	0	.	19.7763	0.96395	0.0:1.0:0.0:0.0	.	89;89	Q13465;Q03112-3	MDS1_HUMAN;.	W	89;113	ENSP00000417899:G89W;ENSP00000419537:G113W	ENSP00000419537:G113W	G	-	1	0	MECOM	170581779	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.678000	0.54627	2.684000	0.91462	0.650000	0.86243	GGG		0.473	MECOM-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000351517.3	NM_005241, NM_004991	
PIK3CA	5290	broad.mit.edu	37	3	178916641	178916661	+	In_Frame_Del	DEL	CTGTGGGGCATCCACTTGATG	CTGTGGGGCATCCACTTGATG	-			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:178916641_178916661delCTGTGGGGCATCCACTTGATG	ENST00000263967.3	+	2	185_205	c.28_48delCTGTGGGGCATCCACTTGATG	c.(28-48)ctgtggggcatccacttgatgdel	p.LWGIHLM10del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	10					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.G12D(2)|p.W11L(2)|p.I13_R19del(1)|p.E9_R19del(1)|p.L15_V22>PM(1)|p.L10_M16del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATCAGGTGAACTGTGGGGCATCCACTTGATGCCCCCAAGAA	0.394		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		8	Substitution - Missense(4)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.G12D(4)|p.W11L(3)|p.I13_R19del(2)|p.E9_R19del(2)|p.L15_V22>PM(2)|p.L10_M16del(2)	lung(3)|endometrium(2)|central_nervous_system(2)|large_intestine(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(28-48)ctgtggggcatccacttgatgdel		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916641_178916661delCTGTGGGGCATCCACTTGATG		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.28_48delCTGTGGGGCATCCACTTGATG	3.37:g.178916641_178916661delCTGTGGGGCATCCACTTGATG	ENSP00000263967:p.Leu10_Met16del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.LWGIHLM10del	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	185_205	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		10					Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.28_48delCTGTGGGGCATCCACTTGATG	CCDS43171.1																																																																																				0.394	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
LIMCH1	22998	broad.mit.edu	37	4	41652554	41652554	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr4:41652554G>A	ENST00000313860.7	+	13	1864	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	LIMCH1_ENST00000511496.1_Missense_Mutation_p.E445K|LIMCH1_ENST00000514096.1_Missense_Mutation_p.E445K|LIMCH1_ENST00000512820.1_Missense_Mutation_p.E592K|LIMCH1_ENST00000381753.4_Missense_Mutation_p.E438K|LIMCH1_ENST00000508501.1_Missense_Mutation_p.E604K|LIMCH1_ENST00000503057.1_Missense_Mutation_p.E989K|LIMCH1_ENST00000512632.1_Missense_Mutation_p.E604K|LIMCH1_ENST00000509277.1_Missense_Mutation_p.E438K|LIMCH1_ENST00000513024.1_Missense_Mutation_p.E433K|LIMCH1_ENST00000396595.3_Missense_Mutation_p.E450K|LIMCH1_ENST00000512946.1_Missense_Mutation_p.E604K	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	604					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTCTCCACTGGAGCTGAAACA	0.527																																						uc003gvz.4																			0				central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						c.(2965-2967)Gag>Aag		Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.							92.0	81.0	85.0					4																	41652554		2203	4300	6503	SO:0001583	missense	22998				actomyosin structure organization		actin binding|zinc ion binding	g.chr4:41652554G>A	AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.1810G>A	4.37:g.41652554G>A	ENSP00000316891:p.Glu604Lys					LIMCH1_uc003gwe.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvu.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvv.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvw.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvx.4_Missense_Mutation_p.E592K|LIMCH1_uc003gvy.4_Missense_Mutation_p.E433K|LIMCH1_uc003gwa.4_Missense_Mutation_p.E445K|LIMCH1_uc011byu.2_Missense_Mutation_p.E438K|LIMCH1_uc003gwc.4_Missense_Mutation_p.E450K|LIMCH1_uc003gwd.4_Missense_Mutation_p.E438K|LIMCH1_uc011byv.2_Missense_Mutation_p.E355K	p.E989K	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN			17	3382	+			604					A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	ENST00000313860.7	37	c.2965G>A	CCDS33977.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.95|13.95	2.390941|2.390941	0.42410|0.42410	.|.	.|.	ENSG00000064042|ENSG00000064042	ENST00000513024;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000396595;ENST00000381753|ENST00000508466	T;T;T;T;T;T;T;T;T;T;T;T|.	0.47177|.	0.85;1.47;1.45;1.47;0.86;1.44;0.86;0.88;0.86;0.88;0.86;0.86|.	5.1|5.1	4.24|4.24	0.50183|0.50183	.|.	0.438852|.	0.25578|.	N|.	0.029720|.	T|.	0.63034|.	0.2477|.	L|L	0.49350|0.49350	1.555|1.555	0.37217|0.37217	D|D	0.905052|0.905052	B;B;B;B;B;P;B;P;P;P;B|.	0.45902|.	0.194;0.042;0.194;0.156;0.156;0.868;0.294;0.619;0.485;0.619;0.154|.	B;B;B;B;B;P;B;B;B;B;B|.	0.48952|.	0.097;0.034;0.15;0.138;0.138;0.596;0.209;0.392;0.146;0.281;0.075|.	T|.	0.66662|.	-0.5867|.	10|.	0.66056|.	D|.	0.02|.	-15.3137|-15.3137	15.6535|15.6535	0.77115|0.77115	0.0:0.1422:0.8577:0.0|0.0:0.1422:0.8577:0.0	.|.	355;438;604;438;450;989;433;592;604;604;604|.	B7Z3G0;E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0|.	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN|.	K|X	433;604;604;604;604;592;989;445;988;445;438;450;438|438	ENSP00000425222:E433K;ENSP00000424825:E604K;ENSP00000424645:E604K;ENSP00000316891:E604K;ENSP00000427045:E604K;ENSP00000424437:E592K;ENSP00000425631:E989K;ENSP00000421242:E445K;ENSP00000426334:E445K;ENSP00000422864:E438K;ENSP00000379840:E450K;ENSP00000371172:E438K|.	ENSP00000316891:E604K|.	E|W	+|+	1|3	0|0	LIMCH1|LIMCH1	41347311|41347311	1.000000|1.000000	0.71417|0.71417	0.973000|0.973000	0.42090|0.42090	0.325000|0.325000	0.28411|0.28411	4.473000|4.473000	0.60196|0.60196	1.483000|1.483000	0.48342|0.48342	0.650000|0.650000	0.86243|0.86243	GAG|TGG		0.527	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361249.2	NM_014988	
NPY2R	4887	broad.mit.edu	37	4	156135822	156135822	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr4:156135822G>C	ENST00000329476.3	+	2	1220	c.731G>C	c.(730-732)aGt>aCt	p.S244T	NPY2R_ENST00000506608.1_Missense_Mutation_p.S244T	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	244					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	CGCATTTGGAGTAAATTGAAG	0.433																																						uc003ioq.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36						c.(730-732)aGt>aCt		Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.							98.0	100.0	100.0					4																	156135822		2203	4300	6503	SO:0001583	missense	4887				cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity	g.chr4:156135822G>C	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.731G>C	4.37:g.156135822G>C	ENSP00000332591:p.Ser244Thr					NPY2R_uc003ior.3_Missense_Mutation_p.S244T|NPY2R_uc021xtm.1_Missense_Mutation_p.S244T	p.S244T	NM_000910	NP_000901	P49146	NPY2R_HUMAN			1	1220	+	all_hematologic(180;0.24)	Renal(120;0.0854)	244					Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	37	c.731G>C	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	G	0.740	-0.776809	0.02929	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.37584	1.19;1.19	5.8	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.713472	0.14758	N	0.300142	T	0.17831	0.0428	N	0.11560	0.145	0.26370	N	0.976905	B	0.06786	0.001	B	0.09377	0.004	T	0.24512	-1.0158	10	0.22706	T	0.39	.	7.229	0.26033	0.1636:0.3798:0.4566:0.0	.	244	P49146	NPY2R_HUMAN	T	244	ENSP00000332591:S244T;ENSP00000426366:S244T	ENSP00000332591:S244T	S	+	2	0	NPY2R	156355272	0.203000	0.23435	0.981000	0.43875	0.328000	0.28507	0.382000	0.20635	0.300000	0.22699	-0.366000	0.07423	AGT		0.433	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	
FTMT	94033	broad.mit.edu	37	5	121187974	121187974	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr5:121187974G>A	ENST00000321339.1	+	1	325	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	106	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCGGGATGACGTGGCCTTGAA	0.592																																						uc003kss.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(316-318)Gtg>Atg		Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.							81.0	66.0	71.0					5																	121187974		2203	4300	6503	SO:0001583	missense	94033				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	g.chr5:121187974G>A	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.316G>A	5.37:g.121187974G>A	ENSP00000313691:p.Val106Met						p.V106M	NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)	0	325	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	106			Ferritin-like diiron.			Missense_Mutation	SNP	ENST00000321339.1	37	c.316G>A	CCDS4128.1	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321363	0.60634	.	.	ENSG00000181867	ENST00000321339	T	0.71341	-0.56	3.57	3.57	0.40892	Ferritin/ribonucleotide reductase-like (1);Ferritin-related (1);Ferritin/DPS protein domain (1);Ferritin-like (1);	0.162290	0.39146	N	0.001448	D	0.84110	0.5400	M	0.85630	2.765	0.42701	D	0.993617	D	0.89917	1.0	D	0.79784	0.993	D	0.87037	0.2138	10	0.72032	D	0.01	.	13.4949	0.61419	0.0:0.0:1.0:0.0	.	106	Q8N4E7	FTMT_HUMAN	M	106	ENSP00000313691:V106M	ENSP00000313691:V106M	V	+	1	0	FTMT	121215873	1.000000	0.71417	0.966000	0.40874	0.965000	0.64279	4.125000	0.57931	2.294000	0.77228	0.655000	0.94253	GTG		0.592	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478	
FCHSD1	89848	broad.mit.edu	37	5	141029038	141029038	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr5:141029038C>T	ENST00000435817.2	-	5	349	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	FCHSD1_ENST00000522126.1_Missense_Mutation_p.R24Q|FCHSD1_ENST00000519800.1_Missense_Mutation_p.R98Q|FCHSD1_ENST00000522783.1_Missense_Mutation_p.R98Q|FCHSD1_ENST00000523856.1_5'Flank	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	100									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGGAGTCGGGTTTGGCC	0.637																																						uc003llk.3																		FCHSD1/BRAF(2)	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(298-300)cGa>cAa		Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.							68.0	81.0	77.0					5																	141029038		2124	4258	6382	SO:0001583	missense	89848							g.chr5:141029038C>T	AK027281	CCDS47295.1	5q31.3	2008-02-05			ENSG00000197948	ENSG00000197948			25463	protein-coding gene	gene with protein product						11214971, 15067381	Standard	NM_033449		Approved	FLJ00007	uc003llk.3	Q86WN1	OTTHUMG00000163762	ENST00000435817.2:c.299G>A	5.37:g.141029038C>T	ENSP00000399259:p.Arg100Gln					FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Non-coding_Transcript	p.R100Q	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	350	-			100					Q6UX75|Q86Y77|Q9NXX8	Missense_Mutation	SNP	ENST00000435817.2	37	c.299G>A	CCDS47295.1	.	.	.	.	.	.	.	.	.	.	c	22.2	4.252357	0.80135	.	.	ENSG00000197948	ENST00000435817;ENST00000522126;ENST00000522783;ENST00000519800	T;T;T;T	0.18960	2.18;2.44;2.18;2.18	5.19	5.19	0.71726	Fps/Fes/Fer/CIP4 homology (1);	0.000000	0.64402	D	0.000005	T	0.43389	0.1245	M	0.63843	1.955	0.41888	D	0.990359	D	0.89917	1.0	D	0.71184	0.972	T	0.31779	-0.9931	10	0.56958	D	0.05	-11.2894	15.428	0.75069	0.0:1.0:0.0:0.0	.	100	Q86WN1	FCSD1_HUMAN	Q	100;24;98;98	ENSP00000399259:R100Q;ENSP00000427796:R24Q;ENSP00000428677:R98Q;ENSP00000428776:R98Q	ENSP00000399259:R100Q	R	-	2	0	FCHSD1	141009222	0.997000	0.39634	1.000000	0.80357	0.630000	0.37929	2.761000	0.47589	2.412000	0.81896	0.556000	0.70494	CGA		0.637	FCHSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375282.2	NM_033449	
WBSCR17	64409	broad.mit.edu	37	7	71175882	71175882	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr7:71175882G>C	ENST00000333538.5	+	10	2271	c.1637G>C	c.(1636-1638)aGc>aCc	p.S546T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	546	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AAGGTCAAGAGCAGCCTGTAC	0.612																																						uc003tvy.3																			0				NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100						c.(1636-1638)aGc>aCc		Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.							51.0	47.0	48.0					7																	71175882		2203	4300	6503	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:71175882G>C	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1637G>C	7.37:g.71175882G>C	ENSP00000329654:p.Ser546Thr					WBSCR17_uc003tvz.3_Missense_Mutation_p.S245T	p.S546T	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			9	1637	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	546			Ricin B-type lectin.		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.1637G>C	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	8.992	0.977856	0.18812	.	.	ENSG00000185274	ENST00000333538	T	0.30981	1.51	5.28	3.48	0.39840	Ricin B-related lectin (1);Ricin B lectin (3);	0.185603	0.56097	N	0.000023	T	0.21427	0.0516	N	0.25647	0.755	0.43238	D	0.995145	B	0.18310	0.027	B	0.17098	0.017	T	0.04281	-1.0963	10	0.56958	D	0.05	.	10.0202	0.42037	0.0753:0.1383:0.7863:0.0	.	546	Q6IS24	GLTL3_HUMAN	T	546	ENSP00000329654:S546T	ENSP00000329654:S546T	S	+	2	0	WBSCR17	70813818	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.777000	0.47717	0.801000	0.34066	-0.119000	0.15052	AGC		0.612	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
PCLO	27445	broad.mit.edu	37	7	82595090	82595090	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr7:82595090T>A	ENST00000333891.9	-	4	4351	c.4014A>T	c.(4012-4014)aaA>aaT	p.K1338N	PCLO_ENST00000423517.2_Missense_Mutation_p.K1338N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACTTACTGTTTTTTCTTTCC	0.338																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(4012-4014)aaA>aaT		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							190.0	166.0	174.0					7																	82595090		1872	4098	5970	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82595090T>A	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4014A>T	7.37:g.82595090T>A	ENSP00000334319:p.Lys1338Asn					PCLO_uc003uhv.2_Missense_Mutation_p.K1338N	p.K1338N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			3	4303	-			1270						Missense_Mutation	SNP	ENST00000333891.9	37	c.4014A>T	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.247709	0.39697	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.17854	2.25;2.26	6.03	3.71	0.42584	.	.	.	.	.	T	0.17195	0.0413	L	0.59436	1.845	0.80722	D	1	B;B	0.20550	0.046;0.046	B;B	0.22601	0.04;0.04	T	0.04165	-1.0972	9	0.87932	D	0	.	6.1659	0.20390	0.1331:0.1178:0.0:0.7492	.	1338;1338	Q9Y6V0-5;Q9Y6V0-6	.;.	N	1338	ENSP00000334319:K1338N;ENSP00000388393:K1338N	ENSP00000334319:K1338N	K	-	3	2	PCLO	82433026	0.981000	0.34729	0.997000	0.53966	0.970000	0.65996	1.002000	0.29796	0.554000	0.29061	0.533000	0.62120	AAA		0.338	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
DYNC1I1	1780	broad.mit.edu	37	7	95457400	95457400	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr7:95457400C>T	ENST00000324972.6	+	5	590	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F	DYNC1I1_ENST00000537881.1_Intron|DYNC1I1_ENST00000437599.1_Intron|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.L116F|DYNC1I1_ENST00000359388.4_Intron|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.L116F	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	133					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCCCTCAGTGCTCCAGCTGCA	0.443																																						uc003uoc.4																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(397-399)Ctc>Ttc		Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.							298.0	293.0	295.0					7																	95457400		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95457400C>T	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.397C>T	7.37:g.95457400C>T	ENSP00000320130:p.Leu133Phe					DYNC1I1_uc003uod.4_Missense_Mutation_p.L116F|DYNC1I1_uc003uob.3_Intron|DYNC1I1_uc003uoe.4_Intron|DYNC1I1_uc010lfl.3_Missense_Mutation_p.L122F	p.L133F	NM_004411	NP_004402	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		4	674	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		133					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.397C>T	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.842197	0.71488	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000518089;ENST00000457059	T;T;T	0.75589	-0.68;-0.95;-0.68	4.59	4.59	0.56863	.	0.000000	0.64402	D	0.000001	T	0.80144	0.4569	L	0.40543	1.245	0.80722	D	1	D;D;D	0.65815	0.992;0.995;0.993	D;D;D	0.66847	0.923;0.947;0.943	T	0.80144	-0.1505	10	0.46703	T	0.11	.	16.134	0.81465	0.0:1.0:0.0:0.0	.	116;116;133	Q7Z6M0;O14576-2;O14576	.;.;DC1I1_HUMAN	F	116;133;116;116	ENSP00000392337:L116F;ENSP00000320130:L133F;ENSP00000412444:L116F	ENSP00000320130:L133F	L	+	1	0	DYNC1I1	95295336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.739000	0.68622	2.558000	0.86282	0.655000	0.94253	CTC		0.443	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411	
AP3M2	10947	broad.mit.edu	37	8	42024775	42024776	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:42024775_42024776insGT	ENST00000518421.1	+	8	1188_1189	c.897_898insGT	c.(898-900)acgfs	p.T300fs	AP3M2_ENST00000520685.1_Intron|AP3M2_ENST00000174653.3_Frame_Shift_Ins_p.T300fs|AP3M2_ENST00000396926.3_Frame_Shift_Ins_p.T300fs	NM_001134296.1	NP_001127768.1	P53677	AP3M2_HUMAN	adaptor-related protein complex 3, mu 2 subunit	300	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GACCCAAGCAGACGATGGGGAA	0.515																																						uc003xop.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17						c.(895-900)cagacgfs		Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	10947				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus		g.chr8:42024775_42024776insGT	D38293	CCDS6125.1	8p11.2	2008-07-07			ENSG00000070718	ENSG00000070718			570	protein-coding gene	gene with protein product		610469				7601449	Standard	NM_006803		Approved	CLA20, AP47B	uc003xoo.3	P53677	OTTHUMG00000164060	Exception_encountered	8.37:g.42024775_42024776insGT	ENSP00000428787:p.Thr300fs					AP3M2_uc003xoo.3_Frame_Shift_Ins_p.Q299fs|AP3M2_uc010lxe.3_Intron	p.Q299fs	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		7	1188_1189	+	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	299			MHD.		B2RCR0|D3DSY2|Q7Z472	Frame_Shift_Ins	INS	ENST00000518421.1	37	c.897_898insGT	CCDS6125.1																																																																																				0.515	AP3M2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376996.1		
ST18	9705	broad.mit.edu	37	8	53073986	53073986	+	Missense_Mutation	SNP	G	G	A	rs2303460	byFrequency	TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:53073986G>A	ENST00000276480.7	-	14	2226	c.1543C>T	c.(1543-1545)Cgc>Tgc	p.R515C		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	515			R -> C (in dbSNP:rs2303460).		transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGAGAGGGCGTTTACCGAAA	0.433													G|||	4	0.000798722	0.0008	0.0	5008	,	,		19387	0.003		0.0	False		,,,				2504	0.0					uc003xqz.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(1543-1545)Cgc>Tgc		Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	211.0	204.0	206.0		1543	3.7	1.0	8	dbSNP_100	206	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ST18	NM_014682.2	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	515/1048	53073986	3,13003	2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53073986G>A	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.1543C>T	8.37:g.53073986G>A	ENSP00000276480:p.Arg515Cys					ST18_uc011ldq.1_Missense_Mutation_p.R162C|ST18_uc011ldr.1_Missense_Mutation_p.R480C|ST18_uc011lds.1_Missense_Mutation_p.R420C|ST18_uc003xra.2_Missense_Mutation_p.R515C|ST18_uc003xrb.2_Missense_Mutation_p.R515C	p.R515C	NM_014682	NP_055497	O60284	ST18_HUMAN			8	1699	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	515		R -> C (in dbSNP:rs2303460).			Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.1543C>T	CCDS6149.1	3	0.0013736263736263737	1	0.0020325203252032522	0	0.0	2	0.0034965034965034965	0	0.0	G	15.03	2.711782	0.48517	2.27E-4	2.33E-4	ENSG00000147488	ENST00000276480;ENST00000517580	T;T	0.61158	0.13;0.13	5.46	3.67	0.42095	Myelin transcription factor 1 (1);	0.271866	0.44097	N	0.000489	T	0.51092	0.1654	L	0.52823	1.66	0.48185	D	0.999605	B;B	0.17268	0.021;0.001	B;B	0.10450	0.005;0.003	T	0.49476	-0.8936	10	0.56958	D	0.05	-2.7715	10.6129	0.45432	0.2086:0.0:0.7914:0.0	rs2303460;rs52795592;rs2303460	515;515	E5RHS3;O60284	.;ST18_HUMAN	C	515	ENSP00000276480:R515C;ENSP00000428521:R515C	ENSP00000276480:R515C	R	-	1	0	ST18	53236539	1.000000	0.71417	0.989000	0.46669	0.933000	0.57130	5.226000	0.65299	0.792000	0.33850	0.558000	0.71614	CGC		0.433	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
SLC25A32	81034	broad.mit.edu	37	8	104427337	104427338	+	5'Flank	INS	-	-	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:104427337_104427338insG	ENST00000297578.4	-	0	0				DCAF13_ENST00000519682.1_5'Flank|DCAF13_ENST00000521971.1_5'Flank|DCAF13_ENST00000521716.1_5'Flank|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000297579.5_Frame_Shift_Ins_p.EG40fs	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TCTAGTACTGAGGGGGCAAGAA	0.663																																						uc003yln.3																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(118-120)gagfs		Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.																																				SO:0001631	upstream_gene_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104427337_104427338insG	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427342_104427342dupG	Exception_encountered					SLC25A32_uc003yll.3_5'UTR|SLC25A32_uc011lhr.2_5'UTR|DCAF13_uc003ylm.1_5'UTR	p.E40fs	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN			0	396_397	+			0					Q96JZ6|Q96SU7	Frame_Shift_Ins	INS	ENST00000297578.4	37	c.119_120insG	CCDS6300.1																																																																																				0.663	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780	
ASAP1	50807	broad.mit.edu	37	8	131124496	131124496	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:131124496C>G	ENST00000518721.1	-	24	2472	c.2245G>C	c.(2245-2247)Gac>Cac	p.D749H	ASAP1_ENST00000357668.1_Missense_Mutation_p.D749H	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	749					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCCAGCTTGTCCTGGGGGGAG	0.542																																						uc003yta.2																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2245-2247)Gac>Cac		Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.							129.0	123.0	125.0					8																	131124496		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131124496C>G	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2245G>C	8.37:g.131124496C>G	ENSP00000429900:p.Asp749His					ASAP1_uc003ysz.2_Missense_Mutation_p.D560H|ASAP1_uc011liw.2_Missense_Mutation_p.D742H	p.D749H	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			23	2473	-			749					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2245G>C	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.7|25.7	4.669260|4.669260	0.88348|0.88348	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	T;T|.	0.06068|.	3.35;3.35|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.239813|.	0.47852|.	D|.	0.000214|.	T|T	0.58104|0.58104	0.2099|0.2099	L|L	0.28274|0.28274	0.84|0.84	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.998;0.989|.	P;P;D|.	0.63192|.	0.879;0.879;0.912|.	T|T	0.50171|0.50171	-0.8859|-0.8859	10|5	0.40728|.	T|.	0.16|.	.|.	19.4101|19.4101	0.94667|0.94667	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	749;749;752|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	H|A	752;749;749|569;162	ENSP00000350297:D749H;ENSP00000429900:D749H|.	ENSP00000344591:D752H|.	D|G	-|-	1|2	0|0	ASAP1|ASAP1	131193678|131193678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	7.331000|7.331000	0.79192|0.79192	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	GAC|GGA		0.542	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
SPATA31C1	441452	broad.mit.edu	37	9	90537612	90537612	+	RNA	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:90537612C>T	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TCATGTCAGCCAGAAGGAGTA	0.547																																						uc010mqi.3																			0											c.(2788-2790)gcC>gcT		Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.							3.0	5.0	4.0					9																	90537612		670	1538	2208			441452							g.chr9:90537612C>T	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90537612C>T						FAM75C1_uc004apq.4_Silent_p.A913A|DQ578031_uc022bjg.1_5'Flank	p.A930A	NM_001145124	NP_001138596					3	2819	+									Silent	SNP	ENST00000602681.1	37	c.2790C>T																																																																																					0.547	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
ZNF618	114991	broad.mit.edu	37	9	116750662	116750662	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:116750662G>A	ENST00000374126.5	+	3	238	c.139G>A	c.(139-141)Gag>Aag	p.E47K	ZNF618_ENST00000288466.7_Missense_Mutation_p.E47K			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	47					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(4)|lung(10)|urinary_tract(1)	16						AGTGCCAGCCGAGGCCTCGCT	0.602																																						uc004bid.3																			0				breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						c.(139-141)Gag>Aag		Homo sapiens zinc finger protein 618 (ZNF618), mRNA.							39.0	45.0	43.0					9																	116750662		2131	4231	6362	SO:0001583	missense	114991				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:116750662G>A	BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.139G>A	9.37:g.116750662G>A	ENSP00000363241:p.Glu47Lys					ZNF618_uc004bib.1_Missense_Mutation_p.E47K|ZNF618_uc004bic.3_Missense_Mutation_p.E47K|ZNF618_uc011lxi.2_Missense_Mutation_p.E47K|ZNF618_uc011lxj.2_Missense_Mutation_p.E47K	p.E47K	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN			2	238	+			47					B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Missense_Mutation	SNP	ENST00000374126.5	37	c.139G>A		.	.	.	.	.	.	.	.	.	.	G	15.65	2.897036	0.52121	.	.	ENSG00000157657	ENST00000374126;ENST00000288466;ENST00000452710;ENST00000374124	T;T;T	0.20738	4.24;2.57;2.05	5.07	5.07	0.68467	.	0.198697	0.35349	N	0.003270	T	0.13030	0.0316	N	0.19112	0.55	0.37616	D	0.921116	P;B;B;P;P	0.50710	0.458;0.226;0.396;0.531;0.938	B;B;B;B;B	0.39840	0.062;0.017;0.041;0.09;0.311	T	0.12192	-1.0557	10	0.29301	T	0.29	-29.0388	12.082	0.53675	0.0:0.1877:0.8123:0.0	.	47;47;47;47;47	B5MDS3;B9EG82;Q5T7W0;Q5T7W0-2;Q5T7W0-3	.;.;ZN618_HUMAN;.;.	K	47	ENSP00000288466:E47K;ENSP00000395400:E47K;ENSP00000363239:E47K	ENSP00000288466:E47K	E	+	1	0	ZNF618	115790483	1.000000	0.71417	0.978000	0.43139	0.748000	0.42578	4.029000	0.57253	2.356000	0.79943	0.462000	0.41574	GAG		0.602	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
OR5C1	392391	broad.mit.edu	37	9	125551633	125551633	+	Missense_Mutation	SNP	C	C	T	rs201245954		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:125551633C>T	ENST00000373680.2	+	1	484	c.422C>T	c.(421-423)tCg>tTg	p.S141L		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	141						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(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ACAGCTATGTCGCAGCGTCTA	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		21617	0.001		0.0	False		,,,				2504	0.0					uc011lzd.2																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						c.(421-423)tCg>tTg		Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.							110.0	107.0	108.0					9																	125551633		2203	4300	6503	SO:0001583	missense	392391				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125551633C>T	AF399514	CCDS35131.1	9q34.2	2012-08-09			ENSG00000148215	ENSG00000148215		"""GPCR / Class A : Olfactory receptors"""	8331	protein-coding gene	gene with protein product				OR5C2P			Standard	NM_001001923		Approved	OR9-F, hRPK-465_F_21	uc011lzd.2	Q8NGR4	OTTHUMG00000020622	ENST00000373680.2:c.422C>T	9.37:g.125551633C>T	ENSP00000362784:p.Ser141Leu						p.S141L	NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN			0	422	+			141					B2RN54|B9EGT0|Q96RC4	Missense_Mutation	SNP	ENST00000373680.2	37	c.422C>T	CCDS35131.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	20.7	4.029499	0.75504	.	.	ENSG00000148215	ENST00000373680	T	0.41400	1.0	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34986	U	0.003535	T	0.64305	0.2586	M	0.86097	2.795	0.41529	D	0.988447	D	0.71674	0.998	P	0.60473	0.875	T	0.70178	-0.4943	10	0.87932	D	0	.	13.6467	0.62286	0.0:0.8445:0.1555:0.0	.	141	Q8NGR4	OR5C1_HUMAN	L	141	ENSP00000362784:S141L	ENSP00000362784:S141L	S	+	2	0	OR5C1	124591454	0.589000	0.26807	0.990000	0.47175	0.521000	0.34408	1.805000	0.38883	2.777000	0.95525	0.655000	0.94253	TCG		0.572	OR5C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053953.1		
BCOR	54880	broad.mit.edu	37	X	39932171	39932171	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:39932171G>A	ENST00000378444.4	-	4	2656	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	BCOR_ENST00000342274.4_Nonsense_Mutation_p.R810*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.R810*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.R810*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	810					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTTCTTCTCGGAGAAGGTCT	0.522			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																															uc004den.4				Rec	yes		X	Xp11.4	54880	"""F, N, S, T"""	BCL6 corepressor	yes	oculo-facio-cardio-dental genetic		RARA		"""retinoblastoma, AML, APL(translocation)"""		0				breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						c.(2428-2430)Cga>Tga		Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.							119.0	115.0	116.0					X																	39932171		2202	4300	6502	SO:0001587	stop_gained	54880				heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	g.chrX:39932171G>A	AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.2428C>T	X.37:g.39932171G>A	ENSP00000367705:p.Arg810*					BCOR_uc004dep.4_Nonsense_Mutation_p.R810*|BCOR_uc004deo.4_Nonsense_Mutation_p.R810*|BCOR_uc004dem.4_Nonsense_Mutation_p.R810*|BCOR_uc004deq.4_Nonsense_Mutation_p.R810*	p.R810*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN			3	2720	-			810					D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	ENST00000378444.4	37	c.2428C>T	CCDS48093.1	.	.	.	.	.	.	.	.	.	.	G	41	8.837567	0.98972	.	.	ENSG00000183337	ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200;ENST00000501455	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1636	12.9687	0.58499	0.0:0.0:0.8392:0.1608	.	.	.	.	X	810;810;810;810;810;217	.	ENSP00000345923:R810X	R	-	1	2	BCOR	39817115	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.795000	0.75140	2.442000	0.82660	0.513000	0.50165	CGA		0.522	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060666.2	NM_017745	
OTUD5	55593	broad.mit.edu	37	X	48814319	48814319	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:48814319C>T	ENST00000156084.4	-	1	574	c.514G>A	c.(514-516)Ggc>Agc	p.G172S	OTUD5_ENST00000428668.2_Intron|OTUD5_ENST00000376488.3_Missense_Mutation_p.G172S|RNU6-722P_ENST00000411377.1_RNA|OTUD5_ENST00000396743.3_Missense_Mutation_p.G172S|OTUD5_ENST00000484499.1_5'Flank	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	172	Gly-rich.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TAGCCTGCGCCGACCTCCTCA	0.687																																						uc004dlu.3																			0				endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						c.(514-516)Ggc>Agc		Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.							30.0	17.0	22.0					X																	48814319		2199	4293	6492	SO:0001583	missense	55593				negative regulation of type I interferon production		cysteine-type peptidase activity	g.chrX:48814319C>T		CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.514G>A	X.37:g.48814319C>T	ENSP00000156084:p.Gly172Ser					OTUD5_uc004dlt.4_Missense_Mutation_p.G172S|OTUD5_uc004dlv.3_Missense_Mutation_p.G172S|OTUD5_uc011mmp.2_Intron	p.G172S	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN			0	575	-			172			Gly-rich.		B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	ENST00000156084.4	37	c.514G>A	CCDS14313.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.665907	0.67700	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488	D;D;D	0.83755	-1.76;-1.76;-1.76	4.57	4.57	0.56435	.	0.000000	0.64402	D	0.000003	T	0.76456	0.3990	L	0.54323	1.7	0.38711	D	0.953213	P;P	0.52061	0.95;0.936	B;B	0.38020	0.191;0.263	T	0.80692	-0.1269	10	0.49607	T	0.09	-10.2617	11.6792	0.51448	0.0:1.0:0.0:0.0	.	172;172	Q96G74;G5E9D7	OTUD5_HUMAN;.	S	172;148;45;172;172	ENSP00000379969:G172S;ENSP00000156084:G172S;ENSP00000365671:G172S	ENSP00000156084:G172S	G	-	1	0	OTUD5	48699263	1.000000	0.71417	0.992000	0.48379	0.796000	0.44982	5.527000	0.67123	2.237000	0.73441	0.600000	0.82982	GGC		0.687	OTUD5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000060799.1	NM_017602	
MED12	9968	broad.mit.edu	37	X	70349202	70349202	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:70349202G>A	ENST00000374080.3	+	26	3646	c.3614G>A	c.(3613-3615)cGc>cAc	p.R1205H	MED12_ENST00000333646.6_Missense_Mutation_p.R1205H|MED12_ENST00000374102.1_Missense_Mutation_p.R1205H			Q93074	MED12_HUMAN	mediator complex subunit 12	1205					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCCTGCGACCGCCACCTGCTG	0.582			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc004dyy.3				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(3613-3615)cGc>cAc		Homo sapiens mediator complex subunit 12 (MED12), mRNA.							51.0	54.0	53.0					X																	70349202		2102	4207	6309	SO:0001583	missense	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70349202G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.3614G>A	X.37:g.70349202G>A	ENSP00000363193:p.Arg1205His		OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1121	MED12_uc011mpq.1_Missense_Mutation_p.R1205H|MED12_uc004dyz.3_Missense_Mutation_p.R1205H|MED12_uc004dza.3_Missense_Mutation_p.R1052H|MED12_uc010nla.3_5'Flank	p.R1205H	NM_005120	NP_005111	Q93074	MED12_HUMAN			25	3813	+	Renal(35;0.156)		1205					O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	ENST00000374080.3	37	c.3614G>A	CCDS43970.1	.	.	.	.	.	.	.	.	.	.	.	26.4	4.738882	0.89573	.	.	ENSG00000184634	ENST00000333646;ENST00000536756;ENST00000374102;ENST00000374080;ENST00000430072	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.57961	0.2089	L	0.58583	1.82	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;1.0;0.999	T	0.60073	-0.7334	10	0.62326	D	0.03	-15.0158	17.7452	0.88419	0.0:0.0:1.0:0.0	.	1205;1052;1205;1205	F5H3Y1;Q7Z3Z5;Q93074-3;Q93074	.;.;.;MED12_HUMAN	H	1205;1205;1205;1205;1173	ENSP00000333125:R1205H;ENSP00000363215:R1205H;ENSP00000363193:R1205H;ENSP00000414203:R1173H	ENSP00000333125:R1205H	R	+	2	0	MED12	70265927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.894000	0.92506	2.465000	0.83290	0.529000	0.55759	CGC		0.582	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120	
