#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
EPHB2	2048	broad.mit.edu	37	1	23110979	23110979	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:23110979G>A	ENST00000400191.3	+	3	239	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	EPHB2_ENST00000374632.3_Missense_Mutation_p.R74Q|EPHB2_ENST00000374630.3_Missense_Mutation_p.R74Q|EPHB2_ENST00000374627.1_Missense_Mutation_p.R68Q|EPHB2_ENST00000544305.1_Missense_Mutation_p.R74Q	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	74	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACTGGCTACGGACCAAGTTT	0.587																																						uc009vqj.1																			0				ovary(3)|lung(1)|pancreas(1)	5						c.(220-222)CGG>CAG		ephrin receptor EphB2 isoform 1 precursor							74.0	66.0	69.0					1																	23110979		2203	4300	6503	SO:0001583	missense	2048	Hereditary_Prostate_Cancer			axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23110979G>A	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.221G>A	1.37:g.23110979G>A	ENSP00000383053:p.Arg74Gln					EPHB2_uc001bge.2_Missense_Mutation_p.R74Q|EPHB2_uc001bgf.2_Missense_Mutation_p.R74Q|EPHB2_uc010odu.1_Missense_Mutation_p.R74Q	p.R74Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	3	366	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	74			Extracellular (Potential).		O43477|Q5T0U6|Q5T0U7|Q5T0U8	Missense_Mutation	SNP	ENST00000400191.3	37	c.221G>A		.	.	.	.	.	.	.	.	.	.	G	22.2	4.254964	0.80135	.	.	ENSG00000133216	ENST00000374625;ENST00000544305;ENST00000374630;ENST00000400191;ENST00000374632;ENST00000374627	T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78	5.19	5.19	0.71726	Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	T	0.27169	0.0666	M	0.65320	2	0.58432	D	0.999998	D;D;D;P	0.76494	0.985;0.999;0.999;0.556	P;D;D;B	0.68039	0.672;0.955;0.955;0.131	T	0.00131	-1.2013	10	0.45353	T	0.12	.	12.5128	0.56015	0.0:0.0:0.8331:0.1669	.	74;74;92;74	A6NJM0;P29323;Q4LE53;P29323-3	.;EPHB2_HUMAN;.;.	Q	74;74;74;74;74;68	ENSP00000444174:R74Q;ENSP00000363761:R74Q;ENSP00000383053:R74Q;ENSP00000363763:R74Q;ENSP00000363758:R68Q	ENSP00000363755:R74Q	R	+	2	0	EPHB2	22983566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.593000	0.82686	2.704000	0.92352	0.484000	0.47621	CGG		0.587	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	NM_017449	
WNT2B	7482	broad.mit.edu	37	1	113059824	113059825	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:113059824_113059825delCT	ENST00000369684.4	+	4	1248_1249	c.763_764delCT	c.(763-765)ctcfs	p.L255fs	WNT2B_ENST00000256640.5_Frame_Shift_Del_p.L163fs|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Frame_Shift_Del_p.L236fs	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	255					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGCGTGCACTCTCAGATTTC	0.624																																						uc001ecb.2																			0				ovary(2)|breast(2)|skin(1)	5						c.(763-765)CTCfs		wingless-type MMTV integration site family,																																				SO:0001589	frameshift_variant	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113059824_113059825delCT	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.763_764delCT	1.37:g.113059826_113059827delCT	ENSP00000358698:p.Leu255fs					WNT2B_uc001eca.2_Frame_Shift_Del_p.L236fs|WNT2B_uc009wgg.2_Frame_Shift_Del_p.L163fs	p.L255fs	NM_024494	NP_078613	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1278_1279	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	255					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Frame_Shift_Del	DEL	ENST00000369684.4	37	c.763_764delCT	CCDS847.1																																																																																				0.624	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185	
FLG	2312	broad.mit.edu	37	1	152279764	152279764	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:152279764C>T	ENST00000368799.1	-	3	7633	c.7598G>A	c.(7597-7599)cGt>cAt	p.R2533H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2533	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATGGTGACGCGACCCTGA	0.592									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(7597-7599)CGT>CAT		filaggrin							259.0	271.0	267.0					1																	152279764		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152279764C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7598G>A	1.37:g.152279764C>T	ENSP00000357789:p.Arg2533His						p.R2533H	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	7634	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2533			Ser-rich.|Filaggrin 15.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.7598G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	c	1.718	-0.497349	0.04291	.	.	ENSG00000143631	ENST00000368799	T	0.02369	4.32	1.84	-3.69	0.04450	.	.	.	.	.	T	0.00637	0.0021	N	0.25485	0.75	0.09310	N	1	B	0.14805	0.011	B	0.04013	0.001	T	0.38329	-0.9666	9	0.40728	T	0.16	.	8.4101	0.32638	0.0:0.4663:0.0:0.5337	.	2533	P20930	FILA_HUMAN	H	2533	ENSP00000357789:R2533H	ENSP00000357789:R2533H	R	-	2	0	FLG	150546388	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.373000	0.00068	-2.898000	0.00313	-3.438000	0.00037	CGT		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
NRP1	8829	broad.mit.edu	37	10	33545336	33545336	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:33545336C>T	ENST00000265371.4	-	6	1247	c.722G>A	c.(721-723)gGc>gAc	p.G241D	NRP1_ENST00000432372.2_Missense_Mutation_p.G241D|NRP1_ENST00000374823.5_Missense_Mutation_p.G241D|NRP1_ENST00000374822.4_Missense_Mutation_p.G241D|NRP1_ENST00000374816.3_Missense_Mutation_p.G241D|NRP1_ENST00000374875.1_Missense_Mutation_p.G60D|NRP1_ENST00000395995.1_Missense_Mutation_p.G241D|NRP1_ENST00000374867.2_Missense_Mutation_p.G241D|NRP1_ENST00000374821.5_Missense_Mutation_p.G241D			O14786	NRP1_HUMAN	neuropilin 1	241	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGAGAGAATGCCCGATGAGGA	0.483																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3																			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(721-723)GGC>GAC		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						119.0	102.0	107.0					10																	33545336		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33545336C>T	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.722G>A	10.37:g.33545336C>T	ENSP00000265371:p.Gly241Asp					NRP1_uc001iwv.3_Missense_Mutation_p.G241D|NRP1_uc009xlz.2_Missense_Mutation_p.G241D|NRP1_uc001iww.3_Missense_Mutation_p.G60D|NRP1_uc001iwy.3_Missense_Mutation_p.G241D|NRP1_uc001iwz.2_Missense_Mutation_p.G241D|NRP1_uc001ixa.2_Missense_Mutation_p.G241D|NRP1_uc001ixb.1_Missense_Mutation_p.G241D|NRP1_uc001ixc.1_Missense_Mutation_p.G241D	p.G241D	NM_003873	NP_003864	O14786	NRP1_HUMAN			5	1245	-			241			Extracellular (Potential).|CUB 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.722G>A	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511501	0.85389	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000374818	T;T;T;T;T;T;T;T	0.28255	1.62;2.38;1.62;1.62;1.62;1.62;1.62;1.62	5.85	5.85	0.93711	CUB (5);	0.000000	0.85682	D	0.000000	T	0.51669	0.1688	L	0.45285	1.41	0.80722	D	1	D;D;D;P;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.832;1.0;1.0;1.0;1.0;1.0	D;D;D;P;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.671;1.0;1.0;1.0;1.0;1.0	T	0.48636	-0.9018	10	0.87932	D	0	-28.4622	20.1731	0.98165	0.0:1.0:0.0:0.0	.	241;241;241;241;241;241;241;60;241	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	D	241;60;241;241;241;241;241;241;60	ENSP00000265371:G241D;ENSP00000364009:G60D;ENSP00000364001:G241D;ENSP00000379317:G241D;ENSP00000363955:G241D;ENSP00000363954:G241D;ENSP00000363956:G241D;ENSP00000363949:G241D	ENSP00000265371:G241D	G	-	2	0	NRP1	33585342	1.000000	0.71417	0.995000	0.50966	0.452000	0.32318	7.788000	0.85771	2.768000	0.95171	0.655000	0.94253	GGC		0.483	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2		
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
BMS1	9790	broad.mit.edu	37	10	43312886	43312888	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:43312886_43312888delGAA	ENST00000374518.5	+	15	2587_2589	c.2524_2526delGAA	c.(2524-2526)gaadel	p.E842del		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	842					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGAATATGATGAAGGAGAAAGCA	0.384																																						uc001jaj.2																			0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(2524-2526)GAAdel		BMS1-like, ribosome assembly protein																																				SO:0001651	inframe_deletion	9790				ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	g.chr10:43312886_43312888delGAA	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.2524_2526delGAA	10.37:g.43312886_43312888delGAA	ENSP00000363642:p.Glu842del						p.E842del	NM_014753	NP_055568	Q14692	BMS1_HUMAN			15	2882_2884	+			842					Q5QPT5|Q86XJ9	In_Frame_Del	DEL	ENST00000374518.5	37	c.2524_2526delGAA	CCDS7199.1																																																																																				0.384	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047690.2	NM_014753	
CYP2C8	1558	broad.mit.edu	37	10	96827051	96827051	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:96827051C>T	ENST00000371270.3	-	3	489	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	CYP2C8_ENST00000535898.1_Missense_Mutation_p.R30Q|CYP2C8_ENST00000539050.1_Missense_Mutation_p.R46Q	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	132					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	CCCAAAATTCCGCAAGGTTGT	0.483																																						uc001kkb.2																			0					0						c.(394-396)CGG>CAG		cytochrome P450, family 2, subfamily C,	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						175.0	161.0	166.0					10																	96827051		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827051C>T	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.395G>A	10.37:g.96827051C>T	ENSP00000360317:p.Arg132Gln					CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.R62Q|CYP2C8_uc010qob.1_Missense_Mutation_p.R46Q|CYP2C8_uc010qoc.1_Missense_Mutation_p.R30Q|CYP2C8_uc010qod.1_Missense_Mutation_p.R46Q	p.R132Q	NM_000770	NP_000761	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	3	490	-		Colorectal(252;0.0397)	132					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.395G>A	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491800	0.84962	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.12879	2.64;2.64;2.64	4.64	4.64	0.57946	.	0.000000	0.64402	U	0.000001	T	0.38692	0.1050	M	0.91818	3.245	0.37299	D	0.908616	D;D;D;D	0.69078	0.997;0.997;0.989;0.997	P;P;P;P	0.54210	0.629;0.745;0.674;0.745	T	0.60419	-0.7267	10	0.87932	D	0	.	16.221	0.82258	0.0:1.0:0.0:0.0	.	46;30;100;132	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	Q	132;99;30;46	ENSP00000360317:R132Q;ENSP00000445062:R30Q;ENSP00000442343:R46Q	ENSP00000360317:R132Q	R	-	2	0	CYP2C8	96817041	0.149000	0.22717	0.426000	0.26672	0.564000	0.35744	2.975000	0.49281	2.424000	0.82194	0.561000	0.74099	CGG		0.483	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770	
NEURL1	9148	broad.mit.edu	37	10	105331407	105331407	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:105331407G>T	ENST00000369780.4	+	3	886	c.477G>T	c.(475-477)gaG>gaT	p.E159D	NEURL_ENST00000369777.2_Missense_Mutation_p.E142D	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		159	NHR 1. {ECO:0000255|PROSITE- ProRule:PRU00400}.				brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGCTGCCTGAGGAGTTTGCCA	0.612																																						uc001kxh.2																			0					0						c.(475-477)GAG>GAT		neuralized-like							120.0	81.0	94.0					10																	105331407		2203	4300	6503	SO:0001583	missense	9148				nervous system development	perinuclear region of cytoplasm	zinc ion binding	g.chr10:105331407G>T																												ENST00000369780.4:c.477G>T	10.37:g.105331407G>T	ENSP00000358795:p.Glu159Asp						p.E159D	NM_004210	NP_004201	O76050	NEU1A_HUMAN		Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)	3	887	+			159			NHR 1.		Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	ENST00000369780.4	37	c.477G>T	CCDS7551.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.730777	0.69074	.	.	ENSG00000107954	ENST00000369780;ENST00000437579;ENST00000369777;ENST00000455386	T;T	0.30981	1.51;1.51	5.79	4.89	0.63831	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.42899	0.1223	L	0.42632	1.34	0.80722	D	1	D	0.71674	0.998	D	0.74674	0.984	T	0.35151	-0.9800	10	0.59425	D	0.04	-17.5358	7.534	0.27700	0.2503:0.0:0.7497:0.0	.	159	O76050	NEU1A_HUMAN	D	159;142;142;84	ENSP00000358795:E159D;ENSP00000358792:E142D	ENSP00000358792:E142D	E	+	3	2	NEURL	105321397	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.524000	0.35942	1.451000	0.47736	0.561000	0.74099	GAG		0.612	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050170.1		
MUC2	4583	broad.mit.edu	37	11	1080301	1080301	+	Missense_Mutation	SNP	G	G	A	rs200412947		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:1080301G>A	ENST00000441003.2	+	8	1048	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R	MUC2_ENST00000359061.5_Missense_Mutation_p.G341R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	341	TIL.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGACGACATCGGGGACAGTGG	0.642													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17317	0.0		0.0	False		,,,				2504	0.0					uc001lsx.1																			0				lung(1)|breast(1)	2						c.(1021-1023)GGG>AGG		mucin 2 precursor	Pranlukast(DB01411)	G	ARG/GLY	10,4254		0,10,2122	25.0	29.0	27.0		1021	-3.0	0.0	11		27	0,8486		0,0,4243	yes	missense	MUC2	NM_002457.2	125	0,10,6365	AA,AG,GG		0.0,0.2345,0.0784	possibly-damaging	341/2813	1080301	10,12740	2132	4243	6375	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1080301G>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.1021G>A	11.37:g.1080301G>A	ENSP00000415183:p.Gly341Arg						p.G341R	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	1048	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	341			TIL.		Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.1021G>A		.	.	.	.	.	.	.	.	.	.	G	2.141	-0.396765	0.04899	0.002345	0.0	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.54866	0.55;0.55	3.74	-3.03	0.05429	.	1.617510	0.04718	N	0.418792	T	0.48040	0.1478	L	0.36672	1.1	0.09310	N	1	P	0.43231	0.801	P	0.45610	0.487	T	0.50242	-0.8851	10	0.27785	T	0.31	.	12.1622	0.54110	0.7943:0.0:0.2057:0.0	.	341	E7EUV1	.	R	341	ENSP00000415183:G341R;ENSP00000351956:G341R	ENSP00000351956:G341R	G	+	1	0	MUC2	1070301	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-0.403000	0.07214	-0.489000	0.06716	0.491000	0.48974	GGG		0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
OR5M11	219487	broad.mit.edu	37	11	56310330	56310330	+	Missense_Mutation	SNP	G	G	C	rs372489507		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:56310330G>C	ENST00000528616.2	-	1	427	c.404C>G	c.(403-405)aCg>aGg	p.T135R		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TCTCCTGGACGTTTTCACACT	0.498																																						uc010rjl.1																			0					0						c.(403-405)ACG>AGG		olfactory receptor, family 5, subfamily M,							52.0	55.0	54.0					11																	56310330		2180	4285	6465	SO:0001583	missense	219487				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56310330G>C	AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.404C>G	11.37:g.56310330G>C	ENSP00000432417:p.Thr135Arg						p.T135R	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN			1	404	-			135			Cytoplasmic (Potential).		B2RNL5|B2RNL7	Missense_Mutation	SNP	ENST00000528616.2	37	c.404C>G	CCDS53629.1	.	.	.	.	.	.	.	.	.	.	G	7.331	0.619016	0.14129	.	.	ENSG00000255223	ENST00000528616	T	0.00571	6.5	5.21	4.08	0.47627	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00468	0.0015	N	0.14661	0.345	0.25805	N	0.98447	B	0.23591	0.088	B	0.28784	0.094	T	0.50074	-0.8870	9	0.87932	D	0	.	10.8629	0.46837	0.9236:0.0:0.0764:0.0	.	135	Q96RB7	OR5MB_HUMAN	R	135	ENSP00000432417:T135R	ENSP00000432417:T135R	T	-	2	0	OR5M11	56066906	0.918000	0.31147	0.959000	0.39883	0.109000	0.19521	1.991000	0.40727	0.949000	0.37715	-0.533000	0.04299	ACG		0.498	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391608.1	NM_001005245	
UVRAG	7405	broad.mit.edu	37	11	75590966	75590966	+	Missense_Mutation	SNP	G	G	A	rs200253982		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:75590966G>A	ENST00000356136.3	+	4	555	c.314G>A	c.(313-315)cGt>cAt	p.R105H	UVRAG_ENST00000528420.1_Missense_Mutation_p.R4H	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	105	C2.				DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)				central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATGCCAGACCGTCTTGATACA	0.423																																						uc001oxc.2																			0				skin(4)|lung(2)	6						c.(313-315)CGT>CAT		UV radiation resistance associated		G	HIS/ARG	1,4399	2.1+/-5.4	0,1,2199	272.0	258.0	263.0		314	0.5	1.0	11		263	0,8586		0,0,4293	yes	missense	UVRAG	NM_003369.3	29	0,1,6492	AA,AG,GG		0.0,0.0227,0.0077	benign	105/700	75590966	1,12985	2200	4293	6493	SO:0001583	missense	7405				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding	g.chr11:75590966G>A	X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.314G>A	11.37:g.75590966G>A	ENSP00000348455:p.Arg105His					UVRAG_uc010rrw.1_Missense_Mutation_p.R4H	p.R105H	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN			4	555	+			105			C2.		B3KTC1|O00392	Missense_Mutation	SNP	ENST00000356136.3	37	c.314G>A	CCDS8241.1	.	.	.	.	.	.	.	.	.	.	G	13.75	2.330074	0.41297	2.27E-4	0.0	ENSG00000198382	ENST00000356136;ENST00000528420;ENST00000528264	T	0.42900	0.96	5.65	0.455	0.16649	C2 calcium-dependent membrane targeting (1);	0.287349	0.38778	N	0.001573	T	0.32315	0.0825	L	0.47716	1.5	0.80722	D	1	B	0.18310	0.027	B	0.17098	0.017	T	0.10613	-1.0622	10	0.36615	T	0.2	-3.107	9.9666	0.41727	0.4571:0.0:0.5429:0.0	.	105	Q9P2Y5	UVRAG_HUMAN	H	105;4;4	ENSP00000348455:R105H	ENSP00000348455:R105H	R	+	2	0	UVRAG	75268614	0.439000	0.25610	0.992000	0.48379	0.996000	0.88848	0.772000	0.26647	0.167000	0.19631	-0.302000	0.09304	CGT		0.423	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1	NM_003369	
NOP2	4839	broad.mit.edu	37	12	6675301	6675301	+	Missense_Mutation	SNP	T	T	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr12:6675301T>G	ENST00000322166.5	-	5	561	c.440A>C	c.(439-441)gAc>gCc	p.D147A	NOP2_ENST00000541778.1_Missense_Mutation_p.D143A|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000537442.1_Missense_Mutation_p.D147A|NOP2_ENST00000545200.1_Missense_Mutation_p.D143A|NOP2_ENST00000399466.2_Missense_Mutation_p.D143A|NOP2_ENST00000382421.3_Missense_Mutation_p.D147A	NM_001258308.1|NM_006170.3	NP_001245237.1|NP_006161.2	P46087	NOP2_HUMAN	NOP2 nucleolar protein	147					positive regulation of cell proliferation (GO:0008284)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AGAGTTGGAGTCAGCTCCATA	0.488																																						uc001qpk.1																			0				ovary(2)	2						c.(439-441)GAC>GCC		Homo sapiens cDNA FLJ31646 fis, clone NT2RI2003921, highly similar to PROLIFERATING-CELL NUCLEOLAR ANTIGEN P120.							74.0	77.0	76.0					12																	6675301		2138	4229	6367	SO:0001583	missense	4839				positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr12:6675301T>G		CCDS44811.1, CCDS58202.1, CCDS58203.1, CCDS58204.1	12p13	2012-12-10	2012-12-10	2008-10-13	ENSG00000111641	ENSG00000111641		"""NOP2/Sun domain containing"""	7867	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 1"""	164031	"""nucleolar protein 1 (120kD)"", ""nucleolar protein 1, 120kDa"", ""nucleolar protein 2 homolog (yeast)"", ""NOP2 nucleolar protein homolog (yeast)"""	NOL1		8088812	Standard	NM_006170		Approved	NOP120, NSUN1, p120	uc021qtz.2	P46087	OTTHUMG00000169163	ENST00000322166.5:c.440A>C	12.37:g.6675301T>G	ENSP00000313272:p.Asp147Ala					NOP2_uc009zeq.1_5'Flank|NOP2_uc001qph.1_Missense_Mutation_p.D143A|NOP2_uc001qpi.1_Missense_Mutation_p.D143A|NOP2_uc001qpj.1_Intron|NOP2_uc001qpl.1_Missense_Mutation_p.D147A|NOP2_uc001qpm.1_Missense_Mutation_p.D147A	p.D147A			P46087	NOP2_HUMAN			4	484	-			147					A1A4Z3|B3KPD6|Q05BA7|Q0P5S5|Q3KQS4|Q58F30	Missense_Mutation	SNP	ENST00000322166.5	37	c.440A>C	CCDS58203.1	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247015	0.22796	.	.	ENSG00000111641	ENST00000537442;ENST00000382421;ENST00000545200;ENST00000399466;ENST00000322166;ENST00000541778;ENST00000542944;ENST00000542867;ENST00000536124;ENST00000545492	T;T;T;T;T;T;T;T;T;T	0.51817	2.28;2.5;2.38;2.3;2.28;2.3;0.69;0.93;0.94;0.91	4.86	1.08	0.20341	.	2.407120	0.01889	N	0.038384	T	0.31136	0.0787	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.19679	-1.0298	10	0.44086	T	0.13	-7.1763	5.4483	0.16548	0.0:0.1104:0.4652:0.4244	.	147;143	Q3KQS4;P46087-2	.;.	A	147;147;143;143;147;143;23;143;147;147	ENSP00000444437:D147A;ENSP00000371858:D147A;ENSP00000439422:D143A;ENSP00000382392:D143A;ENSP00000313272:D147A;ENSP00000443150:D143A;ENSP00000440754:D23A;ENSP00000443035:D143A;ENSP00000442895:D147A;ENSP00000441923:D147A	ENSP00000313272:D147A	D	-	2	0	NOP2	6545562	0.000000	0.05858	0.036000	0.18154	0.948000	0.59901	-0.227000	0.09126	0.191000	0.20236	0.482000	0.46254	GAC		0.488	NOP2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402614.1	NM_006170	
ARHGEF25	115557	broad.mit.edu	37	12	58010639	58010640	+	Frame_Shift_Ins	INS	-	-	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr12:58010639_58010640insA	ENST00000286494.4	+	15	2165_2166	c.1705_1706insA	c.(1705-1707)caafs	p.Q569fs	AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Frame_Shift_Ins_p.Q608fs|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000610219.1_RNA|ARHGEF25_ENST00000477314.1_3'UTR	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	569						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						CCCTCCCTGCCAAGCCAGACTT	0.554																																						uc001spb.2																			0					0						c.(1705-1707)CAAfs		RhoA/RAC/CDC42 exchange factor isoform 1																																				SO:0001589	frameshift_variant	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010639_58010640insA		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1707dupA	12.37:g.58010641_58010641dupA	ENSP00000286494:p.Gln569fs					GEFT_uc009zpy.2_Frame_Shift_Ins_p.Q608fs|GEFT_uc001spa.2_Frame_Shift_Ins_p.Q463fs|uc001spc.2_Intron|GEFT_uc001spd.2_Frame_Shift_Ins_p.Q274fs	p.Q569fs	NM_182947	NP_891992	Q86VW2	ARHGP_HUMAN			15	2165_2166	+	Melanoma(17;0.122)		569					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Frame_Shift_Ins	INS	ENST00000286494.4	37	c.1705_1706insA	CCDS8947.1																																																																																				0.554	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	NM_133483	
ATP8A2	51761	broad.mit.edu	37	13	26349058	26349058	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr13:26349058G>T	ENST00000381655.2	+	27	2782	c.2640G>T	c.(2638-2640)ttG>ttT	p.L880F	ATP8A2_ENST00000255283.8_Missense_Mutation_p.L840F|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	840					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGTGCATCTTGTACTGCTTCT	0.388																																						uc001uqk.2																			0				ovary(2)|large_intestine(1)|skin(1)	4						c.(2638-2640)TTG>TTT		ATPase, aminophospholipid transporter-like,							153.0	132.0	138.0					13																	26349058		1855	4099	5954	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26349058G>T	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2640G>T	13.37:g.26349058G>T	ENSP00000371070:p.Leu880Phe					ATP8A2_uc010tdi.1_Missense_Mutation_p.L840F|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.L430F	p.L880F	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	27	2782	+		Breast(139;0.0201)|Lung SC(185;0.0225)	840			Helical; (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2640G>T	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095100	0.56075	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.70749	-0.51;-0.51	5.53	1.6	0.23607	.	0.000000	0.64402	D	0.000002	T	0.82217	0.4989	M	0.91196	3.185	0.50632	D	0.999883	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.984;0.993;0.984	T	0.78173	-0.2307	10	0.87932	D	0	.	1.9862	0.03436	0.2656:0.2268:0.3919:0.1157	.	840;660;840	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	F	880;840;660	ENSP00000371070:L880F;ENSP00000255283:L840F	ENSP00000255283:L840F	L	+	3	2	ATP8A2	25247058	0.777000	0.28628	0.924000	0.36721	0.966000	0.64601	-0.173000	0.09854	0.430000	0.26230	0.655000	0.94253	TTG		0.388	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr13:45580365_45580367delGAT	ENST00000379151.4	+	3	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del|RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_De_novo_Start_InFrame	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	88	Poly-Asp.																Ggatgatgacgatgatgatgatg	0.335																																						uc001uzq.2																			0				pancreas(1)|skin(1)	2						c.(250-252)GATdel		hypothetical protein LOC55425				311,3953		154,3,1975						-7.1	0.0			182	654,7600		325,4,3798	no	coding	KIAA1704	NM_018559.2		479,7,5773	A1A1,A1R,RR		7.9234,7.2936,7.7089				965,11553				SO:0001651	inframe_deletion	55425							g.chr13:45580365_45580367delGAT	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.250_252delGAT	13.37:g.45580374_45580376delGAT	ENSP00000368447:p.Asp88del					KIAA1704_uc010tfo.1_RNA|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.2_5'UTR|KIAA1704_uc001uzt.2_5'UTR	p.D88del	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	353_355	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	88			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	In_Frame_Del	DEL	ENST00000379151.4	37	c.250_252delGAT	CCDS9394.1																																																																																				0.335	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559	
SIX4	51804	broad.mit.edu	37	14	61189964	61189964	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr14:61189964G>A	ENST00000216513.4	-	1	888	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	277					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTCCTGTCGCGCTGCCGGCGG	0.637																																						uc001xfc.2																			0				breast(3)|ovary(1)	4						c.(829-831)CGC>TGC		sine oculis homeobox homolog 4							35.0	33.0	34.0					14																	61189964		2203	4300	6503	SO:0001583	missense	51804					nucleus		g.chr14:61189964G>A	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.829C>T	14.37:g.61189964G>A	ENSP00000216513:p.Arg277Cys					SIX4_uc010app.1_Missense_Mutation_p.R269C	p.R277C	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0275)	1	829	-			277			Homeobox.		Q4QQH5|Q4V764	Missense_Mutation	SNP	ENST00000216513.4	37	c.829C>T	CCDS9749.2	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450158	0.43531	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.97138	-4.26	3.63	3.63	0.41609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.266108	0.37136	N	0.002235	D	0.98998	0.9658	H	0.97896	4.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.982	D	0.98945	1.0792	10	0.87932	D	0	.	14.0292	0.64604	0.0:0.0:1.0:0.0	.	269;277	G3V2N2;Q9UIU6	.;SIX4_HUMAN	C	277;269	ENSP00000216513:R277C	ENSP00000216513:R277C	R	-	1	0	SIX4	60259717	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.511000	0.35801	1.849000	0.53698	0.650000	0.86243	CGC		0.637	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000072397.2		
ACOT1	641371	broad.mit.edu	37	14	74008216	74008216	+	Silent	SNP	C	C	G	rs201966235	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr14:74008216C>G	ENST00000311148.4	+	2	785	c.477C>G	c.(475-477)ggC>ggG	p.G159G	ACOT1_ENST00000557556.1_Silent_p.G159G|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron	NM_001037161.1	NP_001032238.1	Q86TX2	ACOT1_HUMAN	acyl-CoA thioesterase 1	159					acyl-CoA metabolic process (GO:0006637)|long-chain fatty acid metabolic process (GO:0001676)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)	p.G159G(1)		endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		CCTTTCCTGGCATTGTGGACA	0.463													-|||	62	0.0123802	0.0257	0.0115	5008	,	,		11074	0.002		0.0139	False		,,,				2504	0.0041					uc001xol.1																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(475-477)GGC>GGG		acyl-CoA thioesterase 1							170.0	130.0	144.0					14																	74008216		1974	3593	5567	SO:0001819	synonymous_variant	641371				acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	cytosol	carboxylesterase activity|palmitoyl-CoA hydrolase activity	g.chr14:74008216C>G	DQ082754	CCDS32117.1	14q24.3	2013-09-20			ENSG00000184227	ENSG00000184227		"""Acyl CoA thioesterases"""	33128	protein-coding gene	gene with protein product		614313				16103133, 16940157	Standard	NM_001037161		Approved	ACH2, CTE-1, LACH2		Q86TX2	OTTHUMG00000171607	ENST00000311148.4:c.477C>G	14.37:g.74008216C>G						HEATR4_uc010tua.1_Intron|ACOT1_uc010tuc.1_Silent_p.G159G	p.G159G	NM_001037161	NP_001032238	Q86TX2	ACOT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)	2	675	+			159					A1L173|Q3I5F9	Silent	SNP	ENST00000311148.4	37	c.477C>G	CCDS32117.1																																																																																				0.463	ACOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414432.1	NM_001037161	
AGBL1	123624	broad.mit.edu	37	15	86838560	86838560	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr15:86838560G>A	ENST00000441037.2	+	16	2252	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	AGBL1-AS1_ENST00000566878.1_RNA|AGBL1_ENST00000421325.2_Silent_p.T719T|AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Silent_p.T450T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	719					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTGCCAGACGCTGGGAGGGA	0.507																																						uc002blz.1																			0					0						c.(2155-2157)ACG>ACA		ATP/GTP binding protein-like 1							90.0	90.0	90.0					15																	86838560		1982	4167	6149	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838560G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2157G>A	15.37:g.86838560G>A						AGBL1_uc002bma.1_Silent_p.T450T|AGBL1_uc002bmb.1_Silent_p.T413T	p.T719T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN			16	2237	+			719					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.2157G>A	CCDS58398.1																																																																																				0.507	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336	
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						uc010bvf.1																			2	Substitution - Missense(2)		kidney(2)								c.(811-813)GCT>GTT		RecName: Full=NPIP-like protein 1;																																				SO:0001583	missense	0							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.A271V							9	812	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.812C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1		
ACSM2B	348158	broad.mit.edu	37	16	20548636	20548636	+	Nonsense_Mutation	SNP	G	G	A	rs373534792		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:20548636G>A	ENST00000329697.6	-	14	1846	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*	ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R481*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R560*|ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R560*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	560					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTTTGGTTCGTTGAATTTTC	0.473													g|||	1	0.000199681	0.0	0.0	5008	,	,		19409	0.0		0.0	False		,,,				2504	0.001					uc002dhj.3																			0				skin(3)|ovary(1)|central_nervous_system(1)	5						c.(1678-1680)CGA>TGA		acyl-CoA synthetase medium-chain family member		G	stop/ARG,stop/ARG	0,4404		0,0,2202	255.0	235.0	242.0		1678,1678	2.1	0.0	16		242	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained,stop-gained	ACSM2B	NM_001105069.1,NM_182617.3	,	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	,	560/578,560/578	20548636	2,13002	2202	4300	6502	SO:0001587	stop_gained	348158				fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	g.chr16:20548636G>A	AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1678C>T	16.37:g.20548636G>A	ENSP00000327453:p.Arg560*					ACSM2B_uc002dhk.3_Nonsense_Mutation_p.R560*	p.R560*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN			15	1888	-			560					Q86YT1	Nonsense_Mutation	SNP	ENST00000329697.6	37	c.1678C>T	CCDS10586.1	.	.	.	.	.	.	.	.	.	.	G	2.307	-0.358708	0.05138	0.0	2.33E-4	ENSG00000066813	ENST00000329697	.	.	.	3.09	2.12	0.27331	.	0.000000	0.37577	N	0.002027	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.6762	4.5957	0.12329	0.1204:0.0:0.5052:0.3744	.	.	.	.	X	560	.	ENSP00000327453:R560X	R	-	1	2	ACSM2B	20456137	0.001000	0.12720	0.002000	0.10522	0.050000	0.14768	0.213000	0.17521	0.616000	0.30141	0.609000	0.83330	CGA		0.473	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254417.2	NM_182617	
CACNG3	10368	broad.mit.edu	37	16	24366257	24366257	+	Silent	SNP	C	C	T	rs147734423		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:24366257C>T	ENST00000005284.3	+	3	1601	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	133					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAGACACAACGTCATTCTCA	0.587																																						uc002dmf.2																			0					0						c.(397-399)AAC>AAT		voltage-dependent calcium channel gamma-3		C		0,4394		0,0,2197	64.0	55.0	58.0		399	-5.2	0.9	16	dbSNP_134	58	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CACNG3	NM_006539.3		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		133/316	24366257	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24366257C>T	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.399C>T	16.37:g.24366257C>T							p.N133N	NM_006539	NP_006530	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	3	1599	+			133						Silent	SNP	ENST00000005284.3	37	c.399C>T	CCDS10620.1																																																																																				0.587	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539	
ITGAM	3684	broad.mit.edu	37	16	31286996	31286996	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:31286996C>T	ENST00000287497.8	+	9	1060	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	ITGAM_ENST00000544665.3_Missense_Mutation_p.R329W			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	329					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAACCAGCTTCGGGAGAAGAT	0.542																																						uc002ebq.2																			0				kidney(1)	1						c.(985-987)CGG>TGG		integrin alpha M isoform 2 precursor							69.0	70.0	70.0					16																	31286996		2006	4182	6188	SO:0001583	missense	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31286996C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.985C>T	16.37:g.31286996C>T	ENSP00000287497:p.Arg329Trp					ITGAM_uc002ebr.2_Missense_Mutation_p.R329W|ITGAM_uc010cam.1_5'UTR	p.R329W	NM_000632	NP_000623	P11215	ITAM_HUMAN			9	1083	+			329			Extracellular (Potential).		Q4VAK0|Q4VAK1|Q4VAK2	Missense_Mutation	SNP	ENST00000287497.8	37	c.985C>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787344	0.70337	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	T;T	0.22539	1.95;1.95	4.51	4.51	0.55191	von Willebrand factor, type A (1);	.	.	.	.	T	0.13713	0.0332	N	0.14661	0.345	0.34454	D	0.701004	P;P	0.49783	0.928;0.928	B;B	0.37650	0.255;0.255	T	0.26258	-1.0108	9	0.87932	D	0	.	16.5139	0.84294	0.0:1.0:0.0:0.0	.	329;329	Q4VAK1;P11215	.;ITAM_HUMAN	W	329	ENSP00000441691:R329W;ENSP00000287497:R329W	ENSP00000287497:R329W	R	+	1	2	ITGAM	31194497	1.000000	0.71417	0.974000	0.42286	0.748000	0.42578	3.436000	0.52856	2.464000	0.83262	0.561000	0.74099	CGG		0.542	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
HYDIN	54768	broad.mit.edu	37	16	71004595	71004595	+	Missense_Mutation	SNP	C	C	T	rs368636754		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:71004595C>T	ENST00000393567.2	-	36	5597	c.5447G>A	c.(5446-5448)cGt>cAt	p.R1816H		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1816					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTTGCCCACGTGCCAGGAG	0.507													C|||	1	0.000199681	0.0	0.0	5008	,	,		18109	0.0		0.0	False		,,,				2504	0.001					uc002ezr.2																			0				ovary(1)|skin(1)	2						c.(5443-5445)CGT>CAT		hydrocephalus inducing isoform a							17.0	15.0	16.0					16																	71004595		1776	4023	5799	SO:0001583	missense	54768							g.chr16:71004595C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5447G>A	16.37:g.71004595C>T	ENSP00000377197:p.Arg1816His						p.R1815H	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			36	5572	-		Ovarian(137;0.0654)	1816					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.5444G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	0.085	-1.177079	0.01633	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.40225	1.04	4.75	1.08	0.20341	.	1.968210	0.03835	U	0.269640	T	0.28067	0.0692	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.13442	-1.0509	10	0.32370	T	0.25	.	3.3456	0.07134	0.1204:0.078:0.3274:0.4743	.	1815	F8WD23	.	H	1816;1815	ENSP00000377197:R1816H	ENSP00000310485:R107H	R	-	2	0	HYDIN	69562096	0.012000	0.17670	0.002000	0.10522	0.085000	0.17905	1.611000	0.36879	-0.021000	0.14009	-1.365000	0.01206	CGT		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2	R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM920675	TP53	M	rs11540652	c.(742-744)CGG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577538C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q	p.R248Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	937	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.743G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	broad.mit.edu	37	17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:7578550G>T	ENST00000269305.4	-	5	569	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_ENST00000445888.2_Missense_Mutation_p.S127Y|TP53_ENST00000455263.2_Missense_Mutation_p.S127Y|TP53_ENST00000420246.2_Missense_Mutation_p.S127Y|TP53_ENST00000413465.2_Missense_Mutation_p.S127Y|TP53_ENST00000359597.4_Missense_Mutation_p.S127Y|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAGGGCAGGGGAGTACTGTAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		73	Substitution - Missense(41)|Deletion - In frame(10)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(4)|Unknown(1)	p.S127F(18)|p.S127Y(8)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.S127P(3)|p.S127T(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127C(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S127fs*43(1)|p.S127fs*42(1)|p.Y126fs*18(1)	lung(13)|ovary(8)|upper_aerodigestive_tract(7)|large_intestine(6)|central_nervous_system(6)|skin(5)|NS(4)|prostate(4)|bone(4)|urinary_tract(3)|breast(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(2)|liver(2)|oesophagus(2)|biliary_tract(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(379-381)TCC>TAC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							44.0	44.0	44.0					17																	7578550		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578550G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.380C>A	17.37:g.7578550G>T	ENSP00000269305:p.Ser127Tyr	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.2_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.S88Y	p.S127Y	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	574	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	127		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.380C>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276306	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D;D	0.99940	-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39;-8.39	5.48	4.51	0.55191	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99933	0.9970	M	0.91038	3.17	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.995;1.0;1.0;1.0	D	0.95614	0.8675	10	0.87932	D	0	-30.2503	12.2742	0.54724	0.0828:0.0:0.9172:0.0	.	88;127;127;34;127;127;127	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Y	127;127;127;127;127;127;116;34;34;127;127	ENSP00000410739:S127Y;ENSP00000352610:S127Y;ENSP00000269305:S127Y;ENSP00000398846:S127Y;ENSP00000391127:S127Y;ENSP00000391478:S127Y;ENSP00000423862:S34Y;ENSP00000424104:S127Y;ENSP00000426252:S127Y	ENSP00000269305:S127Y	S	-	2	0	TP53	7519275	1.000000	0.71417	0.890000	0.34922	0.931000	0.56810	9.763000	0.98947	1.448000	0.47680	0.655000	0.94253	TCC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
SLC35G3	146861	broad.mit.edu	37	17	33520323	33520323	+	Missense_Mutation	SNP	C	C	T	rs369787605		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:33520323C>T	ENST00000297307.5	-	1	1089	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	335						integral component of membrane (GO:0016021)		p.R335K(4)									CTCCTCCACCCTCCCTGTCCT	0.557																																						uc002hjd.2																			4	Substitution - Missense(4)		lung(2)|urinary_tract(1)|prostate(1)		0						c.(1003-1005)AGG>AAG		acyl-malonyl condensing enzyme 1							57.0	57.0	57.0					17																	33520323		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520323C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.1004G>A	17.37:g.33520323C>T	ENSP00000297307:p.Arg335Lys						p.R335K	NM_152462	NP_689675	Q8N808	AMAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0917)	1	1090	-			335					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.1004G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.031780	0.00410	.	.	ENSG00000164729	ENST00000297307	T	0.24723	1.84	.	.	.	.	1.165660	0.06508	N	0.737480	T	0.10723	0.0262	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	8	0.07990	T	0.79	0.0	.	.	.	.	335	Q8N808	S35G3_HUMAN	K	335	ENSP00000297307:R335K	ENSP00000297307:R335K	R	-	2	0	SLC35G3	30544436	0.002000	0.14202	0.046000	0.18839	0.046000	0.14306	-1.876000	0.01633	-2.037000	0.00920	-2.088000	0.00374	AGG		0.557	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462	
WNT3	7473	broad.mit.edu	37	17	44851175	44851175	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:44851175T>C	ENST00000225512.5	-	2	343	c.181A>G	c.(181-183)Aat>Gat	p.N61D		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	61					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCGATGTAATTGCGGCAGAAG	0.657																																						uc002ikv.2																			0				lung(2)	2						c.(181-183)AAT>GAT		wingless-type MMTV integration site family,							51.0	53.0	53.0					17																	44851175		2203	4300	6503	SO:0001583	missense	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44851175T>C	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.181A>G	17.37:g.44851175T>C	ENSP00000225512:p.Asn61Asp						p.N61D	NM_030753	NP_110380	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		2	300	-			61					Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	c.181A>G	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	T	34	5.303718	0.95601	.	.	ENSG00000108379	ENST00000225512	T	0.75367	-0.93	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	L	0.28274	0.84	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.74250	-0.3726	10	0.26408	T	0.33	.	13.8223	0.63329	0.0:0.0:0.0:1.0	.	61	P56703	WNT3_HUMAN	D	61	ENSP00000225512:N61D	ENSP00000225512:N61D	N	-	1	0	WNT3	42206338	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.005000	0.57075	1.852000	0.53769	0.379000	0.24179	AAT		0.657	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753	
C17orf47	284083	broad.mit.edu	37	17	56621053	56621053	+	Missense_Mutation	SNP	C	C	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:56621053C>A	ENST00000321691.3	-	1	676	c.495G>T	c.(493-495)aaG>aaT	p.K165N	RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000457347.2_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_5'Flank|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	165										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTAAGTTATTCTTCTGGTCTT	0.478																																						uc002iwq.1																			0				breast(1)	1						c.(493-495)AAG>AAT		hypothetical protein LOC284083							122.0	124.0	123.0					17																	56621053		2203	4300	6503	SO:0001583	missense	284083							g.chr17:56621053C>A		CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.495G>T	17.37:g.56621053C>A	ENSP00000354874:p.Lys165Asn					SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank	p.K165N	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN			1	631	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		165					Q8N821	Missense_Mutation	SNP	ENST00000321691.3	37	c.495G>T	CCDS32691.1	.	.	.	.	.	.	.	.	.	.	C	16.05	3.011709	0.54468	.	.	ENSG00000181013	ENST00000321691	T	0.39997	1.05	5.41	2.24	0.28232	.	0.088928	0.48767	D	0.000163	T	0.43033	0.1229	L	0.27053	0.805	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.12066	-1.0562	10	0.51188	T	0.08	-20.3195	5.7711	0.18253	0.0:0.6651:0.1583:0.1766	.	165	Q8NEP4	CQ047_HUMAN	N	165	ENSP00000354874:K165N	ENSP00000354874:K165N	K	-	3	2	C17orf47	53976052	0.763000	0.28462	0.969000	0.41365	0.196000	0.23810	0.025000	0.13577	0.669000	0.31146	0.655000	0.94253	AAG		0.478	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445443.1	NM_001038704	
CD300A	11314	broad.mit.edu	37	17	72469900	72469900	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:72469900C>T	ENST00000360141.3	+	2	554	c.266C>T	c.(265-267)aCc>aTc	p.T89I	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	89	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TTCACAGTGACCCTGGAGAAT	0.537																																						uc002jkv.2																			0				ovary(1)|skin(1)	2						c.(265-267)ACC>ATC		leukocyte membrane antigen							146.0	134.0	138.0					17																	72469900		2203	4300	6503	SO:0001583	missense	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72469900C>T	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.266C>T	17.37:g.72469900C>T	ENSP00000353259:p.Thr89Ile					CD300A_uc002jkw.2_Intron|CD300A_uc010dfr.2_Intron|CD300A_uc010dfs.2_Intron	p.T89I	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN			2	587	+			89			Extracellular (Potential).|Ig-like V-type.		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	ENST00000360141.3	37	c.266C>T	CCDS32720.1	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825937	0.32237	.	.	ENSG00000167851	ENST00000360141	T	0.69435	-0.4	4.06	3.06	0.35304	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.319059	0.21838	N	0.068364	T	0.78947	0.4364	M	0.77486	2.375	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	T	0.78534	-0.2167	10	0.54805	T	0.06	.	9.5533	0.39324	0.2112:0.7888:0.0:0.0	.	89	Q9UGN4	CLM8_HUMAN	I	89	ENSP00000353259:T89I	ENSP00000353259:T89I	T	+	2	0	CD300A	69981495	0.999000	0.42202	0.985000	0.45067	0.084000	0.17831	4.114000	0.57858	0.971000	0.38288	0.305000	0.20034	ACC		0.537	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261	
THEG	51298	broad.mit.edu	37	19	375850	375850	+	Missense_Mutation	SNP	G	G	A	rs575728371		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:375850G>A	ENST00000342640.4	-	1	163	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	THEG_ENST00000346878.2_Missense_Mutation_p.R41W	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	41					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)				NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGTGACCCGCCGGCTCTCG	0.672													G|||	1	0.000199681	0.0	0.0	5008	,	,		13741	0.0		0.0	False		,,,				2504	0.001					uc002lol.2																			0				ovary(1)	1						c.(121-123)CGG>TGG		Theg homolog isoform 1							40.0	46.0	44.0					19																	375850		2203	4299	6502	SO:0001583	missense	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:375850G>A	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.121C>T	19.37:g.375850G>A	ENSP00000340088:p.Arg41Trp					THEG_uc002lom.2_Missense_Mutation_p.R41W	p.R41W	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	160	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	41					A6NMJ8	Missense_Mutation	SNP	ENST00000342640.4	37	c.121C>T	CCDS12025.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620140	0.46736	.	.	ENSG00000105549	ENST00000342640;ENST00000346878	T;T	0.21191	2.02;2.03	3.08	-1.07	0.09968	.	.	.	.	.	T	0.08088	0.0202	N	0.03608	-0.345	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.06405	0.002;0.002	T	0.29731	-1.0002	9	0.59425	D	0.04	-11.1728	4.7141	0.12887	0.2422:0.2849:0.4729:0.0	.	41;41	Q9P2T0-2;Q9P2T0	.;THEG_HUMAN	W	41	ENSP00000340088:R41W;ENSP00000264820:R41W	ENSP00000340088:R41W	R	-	1	2	THEG	326850	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.034000	0.03567	-0.120000	0.11809	0.561000	0.74099	CGG		0.672	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2		
EEF2	1938	broad.mit.edu	37	19	3980665	3980665	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:3980665A>C	ENST00000309311.6	-	9	1281	c.1193T>G	c.(1192-1194)aTt>aGt	p.I398S	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	398					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTTGGAAATATACATCAT	0.527																																					Colon(165;1804 1908 4071 6587 18799)	uc002lze.2																			0					0						c.(1192-1194)ATT>AGT		eukaryotic translation elongation factor 2							82.0	82.0	82.0					19																	3980665		2203	4300	6503	SO:0001583	missense	1938					cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr19:3980665A>C	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1193T>G	19.37:g.3980665A>C	ENSP00000307940:p.Ile398Ser						p.I398S	NM_001961	NP_001952	P13639	EF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1276	-		Hepatocellular(1079;0.137)	398					B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	ENST00000309311.6	37	c.1193T>G	CCDS12117.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.852893	0.91355	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	D	0.83250	-1.7	5.66	5.66	0.87406	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.88658	0.6496	M	0.93808	3.46	0.80722	D	1	D	0.54397	0.966	P	0.44860	0.462	D	0.91652	0.5335	10	0.87932	D	0	-24.1334	15.0645	0.71983	1.0:0.0:0.0:0.0	.	398	P13639	EF2_HUMAN	S	398	ENSP00000307940:I398S	ENSP00000307940:I398S	I	-	2	0	EEF2	3931665	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.283000	0.95860	2.159000	0.67721	0.459000	0.35465	ATT		0.527	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457615.2	NM_001961	
MUC16	94025	broad.mit.edu	37	19	9046871	9046871	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:9046871G>A	ENST00000397910.4	-	5	34963	c.34760C>T	c.(34759-34761)aCg>aTg	p.T11587M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11589	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGAAACCGTTGTGCTGGT	0.522																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(34759-34761)ACG>ATG		mucin 16							138.0	135.0	136.0					19																	9046871		1974	4153	6127	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046871G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34760C>T	19.37:g.9046871G>A	ENSP00000381008:p.Thr11587Met						p.T11587M	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	34964	-			11589			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.34760C>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	1.826	-0.470961	0.04445	.	.	ENSG00000181143	ENST00000397910	T	0.02067	4.47	2.38	-4.76	0.03229	.	.	.	.	.	T	0.01976	0.0062	L	0.38838	1.175	.	.	.	B	0.06786	0.001	B	0.01281	0.0	T	0.42582	-0.9443	8	0.87932	D	0	.	5.8913	0.18915	0.196:0.0:0.6722:0.1318	.	11587	B5ME49	.	M	11587	ENSP00000381008:T11587M	ENSP00000381008:T11587M	T	-	2	0	MUC16	8907871	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.521000	0.02239	-1.083000	0.03097	-3.395000	0.00039	ACG		0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OR7E24	26648	broad.mit.edu	37	19	9361873	9361873	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:9361873A>G	ENST00000456448.1	+	1	268	c.154A>G	c.(154-156)Atg>Gtg	p.M52V		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	52						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GTTCCTGTCCATGTACCTGGT	0.577																																						uc002mlb.1																			0				skin(1)	1						c.(154-156)ATG>GTG		olfactory receptor, family 7, subfamily E,							49.0	48.0	48.0					19																	9361873		2203	4300	6503	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9361873A>G	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.154A>G	19.37:g.9361873A>G	ENSP00000387523:p.Met52Val						p.M52V	NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN			1	154	+			52			Helical; Name=1; (Potential).		B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.154A>G	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	a	4.119	0.020335	0.08006	.	.	ENSG00000237521	ENST00000456448	T	0.00421	7.46	2.39	1.35	0.21983	.	.	.	.	.	T	0.00241	0.0007	N	0.20766	0.605	0.09310	N	1	B	0.22909	0.077	B	0.19666	0.026	T	0.40289	-0.9571	9	0.62326	D	0.03	.	6.0333	0.19692	0.8606:0.0:0.1394:0.0	.	52	Q6IFN5	O7E24_HUMAN	V	52	ENSP00000387523:M52V	ENSP00000387523:M52V	M	+	1	0	OR7E24	9222873	0.001000	0.12720	0.744000	0.31058	0.507000	0.33981	0.375000	0.20518	0.194000	0.20326	0.358000	0.22013	ATG		0.577	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1		
ATP13A1	57130	broad.mit.edu	37	19	19756294	19756294	+	Silent	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:19756294C>T	ENST00000357324.6	-	26	3578	c.3552G>A	c.(3550-3552)gcG>gcA	p.A1184A	GMIP_ENST00000587238.1_5'Flank|GMIP_ENST00000203556.4_5'Flank|GMIP_ENST00000445806.2_5'Flank|ATP13A1_ENST00000291503.5_Silent_p.A1066A	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	1184						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGGCCAGGAGCGCCAGGCAGA	0.647																																					Esophageal Squamous(142;920 1789 9047 14684 24777)	uc002nnh.3																			0				ovary(3)|large_intestine(2)|central_nervous_system(1)	6						c.(3550-3552)GCG>GCA		ATPase type 13A1							38.0	39.0	38.0					19																	19756294		2201	4298	6499	SO:0001819	synonymous_variant	57130				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr19:19756294C>T	AK056420	CCDS32970.2	19p13.11	2010-04-20	2005-01-12	2005-01-12	ENSG00000105726	ENSG00000105726		"""ATPases / P-type"""	24215	protein-coding gene	gene with protein product	"""cation transporting ATPase"""		"""ATPase type 13A"""	ATP13A		11347906	Standard	NM_020410		Approved	KIAA1825, FLJ31858, CGI-152	uc002nnh.4	Q9HD20	OTTHUMG00000153016	ENST00000357324.6:c.3552G>A	19.37:g.19756294C>T						GMIP_uc002nnd.2_5'Flank|GMIP_uc010xrb.1_5'Flank|GMIP_uc010xrc.1_5'Flank|ATP13A1_uc002nne.2_Silent_p.A324A|ATP13A1_uc002nnf.3_Silent_p.A552A|ATP13A1_uc002nng.2_Silent_p.A1066A	p.A1184A	NM_020410	NP_065143	Q9HD20	AT131_HUMAN			26	3580	-			1184			Helical; (Potential).		B3KPJ2|B3KTA7|Q6NT90|Q6ZMG7|Q9H6C6	Silent	SNP	ENST00000357324.6	37	c.3552G>A	CCDS32970.2																																																																																				0.647	ATP13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329005.1	NM_020410	
ZNF681	148213	broad.mit.edu	37	19	23927494	23927494	+	Silent	SNP	T	T	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:23927494T>C	ENST00000402377.3	-	4	999	c.858A>G	c.(856-858)gaA>gaG	p.E286E	ZNF681_ENST00000395385.3_Silent_p.E217E	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTTTGTCACATTCTTCACGTT	0.363																																						uc002nrk.3																			0					0						c.(856-858)GAA>GAG		zinc finger protein 681							136.0	140.0	139.0					19																	23927494		2203	4300	6503	SO:0001819	synonymous_variant	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927494T>C	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.858A>G	19.37:g.23927494T>C						ZNF681_uc002nrl.3_Silent_p.E217E|ZNF681_uc002nrj.3_Silent_p.E217E	p.E286E	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			4	1000	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	286			C2H2-type 5; degenerate.		B3KVF7	Silent	SNP	ENST00000402377.3	37	c.858A>G	CCDS12414.2																																																																																				0.363	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	NM_138286	
RPS4XP21	126235	broad.mit.edu	37	19	34583748	34583748	+	IGR	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:34583748G>A								RN7SL150P (165218 upstream) : LSM14A (79681 downstream)																							GAATGGTGTCGTTCACTTTAA	0.463																																						uc002nuz.2																			0											c.(412-414)AAC>AAT		full-length cDNA clone CS0DE007YF24 of Placenta of Homo sapiens (human).																																				SO:0001628	intergenic_variant	0							g.chr19:34583748G>A																													19.37:g.34583748G>A							p.N138N							1	466	-									Silent	SNP		37	c.414C>T																																																																																				0	0.463								
ZNF571	51276	broad.mit.edu	37	19	38056190	38056193	+	Frame_Shift_Del	DEL	GTAA	GTAA	-	rs531640879	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:38056190_38056193delGTAA	ENST00000328550.2	-	4	1236_1239	c.1137_1140delTTAC	c.(1135-1140)acttacfs	p.TY379fs	ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000358744.3_Frame_Shift_Del_p.TY379fs|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000451802.2_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000593133.1_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000587121.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCAGGTGGTAAGTAAGTTGTG	0.377														5	0.000998403	0.0	0.0	5008	,	,		22055	0.0		0.0	False		,,,				2504	0.0051					uc002ogt.2																			0					0						c.(1135-1140)ACTTACfs		zinc finger protein 571																																				SO:0001589	frameshift_variant	51276				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38056190_38056193delGTAA	AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1137_1140delTTAC	19.37:g.38056194_38056197delGTAA	ENSP00000333660:p.Thr379fs					uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Frame_Shift_Del_p.T379fs	p.T379fs	NM_016536	NP_057620	Q7Z3V5	ZN571_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		4	1238_1241	-			379_380			C2H2-type 9.		Q2HIY0|Q3ZCU3|Q9NZX7	Frame_Shift_Del	DEL	ENST00000328550.2	37	c.1137_1140delTTAC	CCDS12505.1																																																																																				0.377	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458669.1	NM_016536	
EXOSC5	56915	broad.mit.edu	37	19	41903139	41903139	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:41903139G>A	ENST00000221233.4	-	1	245	c.95C>T	c.(94-96)gCc>gTc	p.A32V	CTC-435M10.3_ENST00000604424.1_Intron|BCKDHA_ENST00000269980.2_5'Flank|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.10_ENST00000598988.1_RNA|BCKDHA_ENST00000457836.2_5'Flank|EXOSC5_ENST00000596905.1_Missense_Mutation_p.A32V	NM_020158.3	NP_064543.3	Q9NQT4	EXOS5_HUMAN	exosome component 5	32					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTGTTCGCAGGCAAAGTGCCG	0.582																																						uc002oqo.2																			0					0						c.(94-96)GCC>GTC		exosome component Rrp46							129.0	122.0	124.0					19																	41903139		2203	4300	6503	SO:0001583	missense	56915				DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr19:41903139G>A	AF285785	CCDS12580.1	19q13.1	2008-02-05				ENSG00000077348			24662	protein-coding gene	gene with protein product	"""exosome component Rrp46"""	606492				11110791, 11812149	Standard	NM_020158		Approved	hRrp46p, Rrp46p, RRP46, RRP41B, MGC12901, p12B	uc002oqo.3	Q9NQT4		ENST00000221233.4:c.95C>T	19.37:g.41903139G>A	ENSP00000221233:p.Ala32Val					CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Intron|BCKDHA_uc002oqp.1_5'Flank|BCKDHA_uc002oqq.2_5'Flank|BCKDHA_uc002oqr.2_5'Flank|BCKDHA_uc010xvz.1_5'Flank	p.A32V	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN			1	118	-			32					Q32Q81|Q8NG16|Q96I89	Missense_Mutation	SNP	ENST00000221233.4	37	c.95C>T	CCDS12580.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819174	0.50633	.	.	ENSG00000077348	ENST00000221233	T	0.63580	-0.05	5.55	4.52	0.55395	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.159578	0.53938	N	0.000054	T	0.36963	0.0986	N	0.05351	-0.065	0.38224	D	0.940854	B	0.26547	0.152	B	0.17098	0.017	T	0.32322	-0.9911	10	0.31617	T	0.26	-17.2989	8.2921	0.31963	0.1727:0.0:0.8273:0.0	.	32	Q9NQT4	EXOS5_HUMAN	V	32	ENSP00000221233:A32V	ENSP00000221233:A32V	A	-	2	0	EXOSC5	46594979	0.997000	0.39634	0.992000	0.48379	0.964000	0.63967	2.911000	0.48774	1.579000	0.49836	0.590000	0.80494	GCC		0.582	EXOSC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463492.1	NM_020158	
IRGC	56269	broad.mit.edu	37	19	44222975	44222975	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:44222975G>A	ENST00000244314.5	+	2	464	c.265G>A	c.(265-267)Gtc>Atc	p.V89I		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	89	IRG-type G.					membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCTCACGGGCGTCATGGAGAC	0.701																																					Colon(189;350 2037 11447 13433 38914)	uc002oxh.2																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(265-267)GTC>ATC		immunity-related GTPase family, cinema							39.0	38.0	38.0					19																	44222975		2203	4300	6503	SO:0001583	missense	56269					membrane	GTP binding|hydrolase activity, acting on acid anhydrides	g.chr19:44222975G>A	BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.265G>A	19.37:g.44222975G>A	ENSP00000244314:p.Val89Ile						p.V89I	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN			2	412	+		Prostate(69;0.0435)	89			GTP.		Q05BR8	Missense_Mutation	SNP	ENST00000244314.5	37	c.265G>A	CCDS12629.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753284	0.49362	.	.	ENSG00000124449	ENST00000244314	T	0.11604	2.76	5.45	5.45	0.79879	.	0.412450	0.21653	N	0.071155	T	0.32645	0.0836	M	0.72479	2.2	0.24286	N	0.995189	D	0.76494	0.999	D	0.67103	0.949	T	0.06127	-1.0844	10	0.72032	D	0.01	.	16.8353	0.85955	0.0:0.0:1.0:0.0	.	89	Q6NXR0	IIGP5_HUMAN	I	89	ENSP00000244314:V89I	ENSP00000244314:V89I	V	+	1	0	IRGC	48914815	0.999000	0.42202	0.527000	0.27925	0.185000	0.23345	3.636000	0.54317	2.560000	0.86352	0.555000	0.69702	GTC		0.701	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336191.1	NM_019612	
EXOC3L2	90332	broad.mit.edu	37	19	45728158	45728158	+	Missense_Mutation	SNP	G	G	A	rs202169742		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:45728158G>A	ENST00000252482.3	-	5	445	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	EXOC3L2_ENST00000413988.1_Missense_Mutation_p.R140C			Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	140					exocytosis (GO:0006887)	exocyst (GO:0000145)				endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CGGGCCAGGCGCTCGGCCAGA	0.637																																						uc002pay.1																			0				ovary(1)	1						c.(418-420)CGC>TGC		exocyst complex component 3-like 2		G	CYS/ARG	1,4403		0,1,2201	16.0	17.0	17.0		418	4.3	1.0	19		17	0,8588		0,0,4294	yes	missense	EXOC3L2	NM_138568.3	180	0,1,6495	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	140/410	45728158	1,12991	2202	4294	6496	SO:0001583	missense	90332							g.chr19:45728158G>A	AK093466	CCDS12657.1	19q13.32	2011-07-07			ENSG00000130201	ENSG00000130201			30162	protein-coding gene	gene with protein product						21566143	Standard	NM_138568		Approved	FLJ36147, XTP7	uc002pay.1	Q2M3D2	OTTHUMG00000155018	ENST00000252482.3:c.418C>T	19.37:g.45728158G>A	ENSP00000252482:p.Arg140Cys						p.R140C	NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00883)	6	459	-		all_neural(266;0.224)|Ovarian(192;0.231)	140					Q8N9W2|Q96GV2	Missense_Mutation	SNP	ENST00000252482.3	37	c.418C>T	CCDS12657.1	.	.	.	.	.	.	.	.	.	.	G	19.66	3.869273	0.72065	2.27E-4	0.0	ENSG00000130201	ENST00000252482;ENST00000413988	T;T	0.07021	3.23;3.23	4.3	4.3	0.51218	.	0.423027	0.25517	N	0.030125	T	0.23688	0.0573	L	0.56769	1.78	0.46521	D	0.999082	D	0.89917	1.0	D	0.77004	0.989	T	0.00339	-1.1805	10	0.62326	D	0.03	.	12.953	0.58411	0.0:0.0:1.0:0.0	.	140	Q2M3D2	EX3L2_HUMAN	C	140	ENSP00000252482:R140C;ENSP00000400713:R140C	ENSP00000252482:R140C	R	-	1	0	EXOC3L2	50419998	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.153000	0.50685	2.324000	0.78689	0.561000	0.74099	CGC		0.637	EXOC3L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338073.1	NM_138568	
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_ENST00000340550.5_In_Frame_Del_p.L8del|SIGLEC8_ENST00000430817.1_In_Frame_Del_p.L8del|SIGLEC8_ENST00000597352.1_5'Flank	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596																																						uc002pwt.2																			0				ovary(2)|kidney(1)|central_nervous_system(1)|skin(1)	5						c.(22-27)CTGCCC>CCC		sialic acid binding Ig-like lectin 8 precursor																																				SO:0001651	inframe_deletion	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51961617_51961619delGCA	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.23_25delTGC	19.37:g.51961626_51961628delGCA	ENSP00000321077:p.Leu8del					SIGLEC8_uc010yda.1_In_Frame_Del_p.L8del|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_In_Frame_Del_p.L8del	p.L8del	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	1	90_92	-		all_neural(266;0.0199)	8					Q7Z728	In_Frame_Del	DEL	ENST00000321424.3	37	c.23_25delTGC	CCDS33086.1																																																																																				0.596	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
LILRB2	10288	broad.mit.edu	37	19	54783691	54783691	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:54783691C>T	ENST00000391749.4	-	4	581	c.310G>A	c.(310-312)Gct>Act	p.A104T	LILRB2_ENST00000314446.5_Missense_Mutation_p.A104T|LILRB2_ENST00000391746.1_Missense_Mutation_p.A104T|LILRB2_ENST00000434421.1_5'UTR|LILRB2_ENST00000471216.1_5'Flank|MIR4752_ENST00000579672.1_RNA|LILRB2_ENST00000391748.1_Missense_Mutation_p.A104T	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	104	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)	p.A104S(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACCACCGAGCGCGGCTGTAA	0.592																																						uc002qfb.2																			1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	skin(1)	1						c.(310-312)GCT>ACT		leukocyte immunoglobulin-like receptor,							122.0	120.0	121.0					19																	54783691		2203	4300	6503	SO:0001583	missense	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54783691C>T	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.310G>A	19.37:g.54783691C>T	ENSP00000375629:p.Ala104Thr					LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.A104T|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.A104T|LILRB2_uc010yet.1_5'UTR|LILRB2_uc010yeu.1_RNA	p.A104T	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	576	-	Ovarian(34;0.19)		104			Extracellular (Potential).|Ig-like C2-type 1.		A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Missense_Mutation	SNP	ENST00000391749.4	37	c.310G>A	CCDS12886.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.748638	0.00669	.	.	ENSG00000131042	ENST00000391748;ENST00000314446;ENST00000391749;ENST00000391746	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	1.76	-3.51	0.04696	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.791320	0.02944	N	0.140821	T	0.04588	0.0125	N	0.04636	-0.2	0.09310	N	0.999997	B;B;B	0.15930	0.015;0.003;0.001	B;B;B	0.12837	0.008;0.006;0.002	T	0.32107	-0.9919	10	0.09590	T	0.72	.	5.437	0.16486	0.2315:0.5356:0.0:0.2329	.	104;121;104	A8MU67;E7EVY1;Q8N423	.;.;LIRB2_HUMAN	T	104	ENSP00000375628:A104T;ENSP00000319960:A104T;ENSP00000375629:A104T;ENSP00000375626:A104T	ENSP00000319960:A104T	A	-	1	0	LILRB2	59475503	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-7.675000	0.00032	-4.220000	0.00064	-4.267000	0.00008	GCT		0.592	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1		
KIR2DL3	3804	broad.mit.edu	37	19	55255258	55255260	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:55255258_55255260delCTT	ENST00000342376.3	+	4	417_419	c.386_388delCTT	c.(385-390)ccttct>cct	p.S130del	KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_In_Frame_Del_p.S130del|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2	P43628	KI2L3_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3	130					immune response (GO:0006955)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TATGAGAAACCTTCTCTCTCAGC	0.562																																						uc002qgv.2																			0				ovary(2)	2						c.(385-390)CCTTCT>CCT		killer cell immunoglobulin-like receptor, two																																				SO:0001651	inframe_deletion	3804				immune response|regulation of immune response	integral to plasma membrane	antigen binding|protein binding|receptor activity	g.chr19:55255258_55255260delCTT	L41268	CCDS33107.1	19q13.4	2013-01-29				ENSG00000243772		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6331	protein-coding gene	gene with protein product		604938				7749980, 8662091	Standard	XM_006725426		Approved	cl-6, nkat2, nkat2a, nkat2b, p58, CD158B2		P43628	OTTHUMG00000065887	ENST00000342376.3:c.386_388delCTT	19.37:g.55255258_55255260delCTT	ENSP00000342215:p.Ser130del					KIR2DL3_uc002qgx.2_In_Frame_Del_p.S130del|KIR2DL3_uc002qgy.2_Intron|KIR2DL3_uc010erw.1_In_Frame_Del_p.S130del|KIR2DL1_uc002qgz.1_In_Frame_Del_p.S40del|KIR2DL3_uc002qha.1_Intron	p.S130del	NM_015868	NP_056952	P43628	KI2L3_HUMAN		GBM - Glioblastoma multiforme(193;0.0192)	4	404_406	+			130			Extracellular (Potential).		O43472|P78402|Q14944|Q14945|Q9UM51|Q9UQ70	In_Frame_Del	DEL	ENST00000342376.3	37	c.386_388delCTT	CCDS33107.1																																																																																				0.562	KIR2DL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000141150.1		
FNDC4	64838	broad.mit.edu	37	2	27716857	27716857	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:27716857G>A	ENST00000264703.3	-	4	785	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	GCKR_ENST00000424318.2_5'Flank|GCKR_ENST00000264717.2_5'Flank	NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	132	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					AAGTGCACCCGGGGCCCTGGG	0.607																																						uc002rkx.2																			0					0						c.(394-396)CGG>TGG		fibronectin type III domain containing 4							65.0	75.0	72.0					2																	27716857		2203	4300	6503	SO:0001583	missense	64838					integral to membrane		g.chr2:27716857G>A	AK026015	CCDS1756.1	2p23.3	2013-02-11			ENSG00000115226	ENSG00000115226		"""Fibronectin type III domain containing"""	20239	protein-coding gene	gene with protein product		611905				12384288	Standard	NM_022823		Approved	FLJ22362, FRCP1	uc002rkx.3	Q9H6D8	OTTHUMG00000097787	ENST00000264703.3:c.394C>T	2.37:g.27716857G>A	ENSP00000264703:p.Arg132Trp					GCKR_uc002rky.2_5'Flank|GCKR_uc010ezd.2_5'Flank|GCKR_uc010ylu.1_5'Flank	p.R132W	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN			4	800	-	Acute lymphoblastic leukemia(172;0.155)		132			Extracellular (Potential).|Fibronectin type-III.		D6W560	Missense_Mutation	SNP	ENST00000264703.3	37	c.394C>T	CCDS1756.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379628	0.61845	.	.	ENSG00000115226	ENST00000264703	T	0.76186	-1.0	5.18	2.35	0.29111	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.055294	0.64402	D	0.000002	T	0.78717	0.4327	L	0.51422	1.61	0.50313	D	0.999867	D	0.89917	1.0	D	0.67548	0.952	T	0.76135	-0.3070	10	0.72032	D	0.01	-26.0419	8.1025	0.30865	0.0757:0.0:0.6433:0.281	.	132	Q9H6D8	FNDC4_HUMAN	W	132	ENSP00000264703:R132W	ENSP00000264703:R132W	R	-	1	2	FNDC4	27570361	1.000000	0.71417	0.922000	0.36590	0.990000	0.78478	3.689000	0.54706	0.185000	0.20105	0.462000	0.41574	CGG		0.607	FNDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215031.1	NM_022823	
SCN3A	6328	broad.mit.edu	37	2	166019327	166019327	+	Missense_Mutation	SNP	T	T	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:166019327T>C	ENST00000360093.3	-	8	1197	c.706A>G	c.(706-708)Att>Gtt	p.I236V	SCN3A_ENST00000409101.3_Missense_Mutation_p.I236V|SCN3A_ENST00000283254.7_Missense_Mutation_p.I236V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	236					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GCCCCCACAATGGTCTTTAAA	0.453																																						uc002ucx.2																			0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(706-708)ATT>GTT		sodium channel, voltage-gated, type III, alpha	Lamotrigine(DB00555)						104.0	105.0	105.0					2																	166019327		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166019327T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.706A>G	2.37:g.166019327T>C	ENSP00000353206:p.Ile236Val					SCN3A_uc002ucy.2_Missense_Mutation_p.I236V|SCN3A_uc002ucz.2_Missense_Mutation_p.I236V|SCN3A_uc002uda.1_Missense_Mutation_p.I105V|SCN3A_uc002udb.1_Missense_Mutation_p.I105V	p.I236V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			8	1198	-			236					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.706A>G		.	.	.	.	.	.	.	.	.	.	T	15.59	2.879585	0.51801	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.98400	-4.91;-4.91;-4.91;-4.91	5.93	5.93	0.95920	Ion transport (1);	0.000000	0.64402	D	0.000014	D	0.98463	0.9488	L	0.50333	1.59	0.80722	D	1	P;P;D;P;P	0.71674	0.898;0.944;0.998;0.653;0.948	D;P;D;P;D	0.83275	0.956;0.893;0.996;0.632;0.949	D	0.99899	1.1155	10	0.87932	D	0	.	16.3871	0.83514	0.0:0.0:0.0:1.0	.	236;236;236;236;236	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	V	236	ENSP00000353206:I236V;ENSP00000283254:I236V;ENSP00000386726:I236V;ENSP00000403348:I236V	ENSP00000283254:I236V	I	-	1	0	SCN3A	165727573	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	8.040000	0.89188	2.270000	0.75569	0.482000	0.46254	ATT		0.453	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
ZNF804A	91752	broad.mit.edu	37	2	185802513	185802513	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:185802513G>A	ENST00000302277.6	+	4	2984	c.2390G>A	c.(2389-2391)aGg>aAg	p.R797K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	797							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAATTTTTGAGGCCACCAAGT	0.383																																						uc002uph.2																			0				ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2389-2391)AGG>AAG		zinc finger protein 804A							47.0	52.0	50.0					2																	185802513		2200	4299	6499	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802513G>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2390G>A	2.37:g.185802513G>A	ENSP00000303252:p.Arg797Lys						p.R797K	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2984	+			797					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2390G>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	G	6.533	0.466662	0.12402	.	.	ENSG00000170396	ENST00000302277	T	0.05717	3.4	5.81	-0.729	0.11158	.	0.658159	0.14608	N	0.309201	T	0.04679	0.0127	L	0.33485	1.01	0.09310	N	1	B	0.21071	0.051	B	0.12156	0.007	T	0.37174	-0.9717	10	0.35671	T	0.21	-0.6984	7.3086	0.26461	0.1932:0.334:0.4727:0.0	.	797	Q7Z570	Z804A_HUMAN	K	797	ENSP00000303252:R797K	ENSP00000303252:R797K	R	+	2	0	ZNF804A	185510758	0.030000	0.19436	0.000000	0.03702	0.467000	0.32768	0.242000	0.18087	-0.127000	0.11661	0.655000	0.94253	AGG		0.383	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
ANKRD44	91526	broad.mit.edu	37	2	197863059	197863059	+	Splice_Site	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:197863059A>G	ENST00000328737.2	-	25	2750		c.e25+1		ANKRD44_ENST00000450567.1_Splice_Site|ANKRD44_ENST00000337207.5_Splice_Site|ANKRD44_ENST00000282272.8_Splice_Site			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44											NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCATTTACATACTTTACTACA	0.333																																						uc002uua.1																			0				ovary(4)|skin(1)	5						c.e25+1		ankyrin repeat domain 44							45.0	44.0	45.0					2																	197863059		2202	4300	6502	SO:0001630	splice_region_variant	91526						protein binding	g.chr2:197863059A>G	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.2673+1T>C	2.37:g.197863059A>G						ANKRD44_uc002utz.3_Splice_Site_p.K623_splice	p.K891_splice	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		25	2750	-								Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Splice_Site	SNP	ENST00000328737.2	37	c.2673_splice		.	.	.	.	.	.	.	.	.	.	A	19.64	3.864550	0.71949	.	.	ENSG00000065413	ENST00000424317;ENST00000448801;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8004	0.69909	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ANKRD44	197571304	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	8.856000	0.92245	2.146000	0.66826	0.482000	0.46254	.		0.333	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	NM_153697	Intron
NYAP2	57624	broad.mit.edu	37	2	226446958	226446958	+	Silent	SNP	C	C	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:226446958C>A	ENST00000272907.6	+	4	1238	c.825C>A	c.(823-825)atC>atA	p.I275I	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	275					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.I275I(1)									AGTACCCTATCTTTGACGACT	0.542																																						uc002voe.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(823-825)ATC>ATA		hypothetical protein LOC57624							113.0	120.0	118.0					2																	226446958		2093	4208	6301	SO:0001819	synonymous_variant	57624							g.chr2:226446958C>A	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.825C>A	2.37:g.226446958C>A						KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.I45I	p.I275I	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1000	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	275					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.825C>A	CCDS46529.1																																																																																				0.542	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
NYAP2	57624	broad.mit.edu	37	2	226446979	226446979	+	Silent	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:226446979C>T	ENST00000272907.6	+	4	1259	c.846C>T	c.(844-846)gaC>gaT	p.D282D	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	282					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												TGGGCCAAGACGCCAAATGTG	0.557																																						uc002voe.2																			0				ovary(2)|central_nervous_system(1)	3						c.(844-846)GAC>GAT		hypothetical protein LOC57624							104.0	111.0	109.0					2																	226446979		2104	4208	6312	SO:0001819	synonymous_variant	57624							g.chr2:226446979C>T	AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.846C>T	2.37:g.226446979C>T						KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_Silent_p.D52D	p.D282D	NM_020864	NP_065915	Q9P242	K1486_HUMAN		Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223)	4	1021	+		Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129)	282					A2RRN4|Q96NL2	Silent	SNP	ENST00000272907.6	37	c.846C>T	CCDS46529.1																																																																																				0.557	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
COL6A3	1293	broad.mit.edu	37	2	238249201	238249201	+	Silent	SNP	G	G	A	rs113423040		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:238249201G>A	ENST00000295550.4	-	38	8810	c.8358C>T	c.(8356-8358)ttC>ttT	p.F2786F	COL6A3_ENST00000409809.1_Silent_p.F2580F|COL6A3_ENST00000346358.4_Silent_p.F2586F|COL6A3_ENST00000353578.4_Silent_p.F2580F|COL6A3_ENST00000472056.1_Silent_p.F2179F|COL6A3_ENST00000347401.3_Silent_p.F2585F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2786	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTCACTGGCGAAGGTGTATA	0.547																																						uc002vwl.2																			0				ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1)	18						c.(8356-8358)TTC>TTT		alpha 3 type VI collagen isoform 1 precursor							113.0	99.0	104.0					2																	238249201		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238249201G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8358C>T	2.37:g.238249201G>A						COL6A3_uc002vwo.2_Silent_p.F2580F|COL6A3_uc010znj.1_Silent_p.F2179F|COL6A3_uc002vwj.2_Silent_p.F167F	p.F2786F	NM_004369	NP_004360	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	38	8643	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	2786			VWFA 12.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.8358C>T	CCDS33412.1																																																																																				0.547	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
SLCO4A1	28231	broad.mit.edu	37	20	61299253	61299253	+	Silent	SNP	C	C	T	rs138089582	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr20:61299253C>T	ENST00000370507.1	+	7	1725	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	RP11-93B14.5_ENST00000451648.1_RNA|SLCO4A1_ENST00000217159.1_Silent_p.D543D|RP11-93B14.5_ENST00000433126.1_RNA|SLCO4A1_ENST00000470412.1_3'UTR|RP11-93B14.5_ENST00000411824.1_RNA			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	543	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CGAATGTGGACGGCCAGAAGG	0.647													C|||	5	0.000998403	0.003	0.0014	5008	,	,		17239	0.0		0.0	False		,,,				2504	0.0				Pancreas(168;741 2006 10379 40139 45334)	uc002ydb.1																			0				ovary(1)	1						c.(1627-1629)GAC>GAT		solute carrier organic anion transporter family		C		15,4391	22.3+/-47.3	0,15,2188	77.0	74.0	75.0		1629	-9.9	0.0	20	dbSNP_134	75	7,8593	5.7+/-21.5	0,7,4293	no	coding-synonymous	SLCO4A1	NM_016354.3		0,22,6481	TT,TC,CC		0.0814,0.3404,0.1692		543/723	61299253	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	28231				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr20:61299253C>T	AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.1629C>T	20.37:g.61299253C>T						SLCO4A1_uc002ydc.1_RNA|LOC100127888_uc002ydd.2_5'Flank|SLCO4A1_uc002yde.1_Missense_Mutation_p.T3M	p.D543D	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		8	1834	+	Breast(26;3.65e-08)		543			Extracellular (Potential).|Kazal-like.		Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	ENST00000370507.1	37	c.1629C>T	CCDS13501.1	.	.	.	.	.	.	.	.	.	.	C	7.898	0.733871	0.15574	0.003404	8.14E-4	ENSG00000101187	ENST00000451793	T	0.38077	1.16	4.93	-9.87	0.00470	.	.	.	.	.	T	0.27832	0.0685	.	.	.	0.24421	N	0.994615	.	.	.	.	.	.	T	0.46775	-0.9167	6	0.66056	D	0.02	.	6.1685	0.20404	0.0725:0.1657:0.1553:0.6064	.	.	.	.	M	30	ENSP00000414855:T30M	ENSP00000414855:T30M	T	+	2	0	SLCO4A1	60769698	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.133000	0.03232	-3.087000	0.00249	-2.395000	0.00226	ACG		0.647	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080048.2	NM_016354	
KIAA1644	85352	broad.mit.edu	37	22	44692617	44692617	+	Silent	SNP	G	G	A	rs373946331		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr22:44692617G>A	ENST00000381176.4	-	3	348	c.216C>T	c.(214-216)aaC>aaT	p.N72N		NM_001099294.1	NP_001092764.1	Q3SXP7	K1644_HUMAN	KIAA1644	72						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ACTCCGTCTCGTTGCAGCAGT	0.582																																						uc003bet.2																			0				ovary(1)	1						c.(214-216)AAC>AAT		hypothetical protein LOC85352 precursor							143.0	158.0	153.0					22																	44692617		2150	4248	6398	SO:0001819	synonymous_variant	85352					integral to membrane		g.chr22:44692617G>A	AB051431	CCDS43025.1	22q13	2009-02-06	2009-02-06		ENSG00000138944	ENSG00000138944			29335	protein-coding gene	gene with protein product						11258795	Standard	NM_001099294		Approved		uc003bet.2	Q3SXP7	OTTHUMG00000030991	ENST00000381176.4:c.216C>T	22.37:g.44692617G>A							p.N72N	NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN			3	349	-		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)	72			Extracellular (Potential).		A6NHP0|A9Z1Z0|Q3SXP8|Q5JZ71|Q9BYB5	Silent	SNP	ENST00000381176.4	37	c.216C>T	CCDS43025.1																																																																																				0.582	KIAA1644-006	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000075879.2	NM_001099294	
CNTN4	152330	broad.mit.edu	37	3	3076350	3076350	+	Silent	SNP	C	C	T	rs185066001	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:3076350C>T	ENST00000397461.1	+	16	2202	c.1818C>T	c.(1816-1818)gaC>gaT	p.D606D	CNTN4_ENST00000448906.2_Silent_p.D278D|CNTN4_ENST00000418658.1_Silent_p.D606D|CNTN4_ENST00000427331.1_Silent_p.D606D|CNTN4_ENST00000358480.3_Silent_p.D387D|CNTN4_ENST00000397459.2_Silent_p.D278D	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	606	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGACAATAGACGAAATCACAG	0.537													C|||	4	0.000798722	0.0	0.0	5008	,	,		16936	0.004		0.0	False		,,,				2504	0.0					uc003bpc.2																			0				large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1)	7						c.(1816-1818)GAC>GAT		contactin 4 isoform a precursor							83.0	71.0	75.0					3																	3076350		2203	4300	6503	SO:0001819	synonymous_variant	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:3076350C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1818C>T	3.37:g.3076350C>T						CNTN4_uc003bpb.1_Silent_p.D277D|CNTN4_uc003bpd.1_Silent_p.D606D|CNTN4_uc003bpe.2_Silent_p.D278D|CNTN4_uc003bpf.2_Silent_p.D277D	p.D606D	NM_175607	NP_783200	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	16	2039	+		Ovarian(110;0.156)	606			Fibronectin type-III 1.		B2RAX3|Q8IX14|Q8TC35	Silent	SNP	ENST00000397461.1	37	c.1818C>T	CCDS43041.1																																																																																				0.537	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2		
COLQ	8292	broad.mit.edu	37	3	15512054	15512054	+	Nonsense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:15512054G>A	ENST00000383788.5	-	11	831	c.706C>T	c.(706-708)Cga>Tga	p.R236*	COLQ_ENST00000383781.4_Nonsense_Mutation_p.R226*|COLQ_ENST00000383787.2_Nonsense_Mutation_p.R227*|COLQ_ENST00000435459.2_Nonsense_Mutation_p.R226*|COLQ_ENST00000383786.5_Nonsense_Mutation_p.R202*|COLQ_ENST00000603808.1_Nonsense_Mutation_p.R236*|COLQ_ENST00000383785.2_Nonsense_Mutation_p.R236*	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	236	Collagen-like 1.|Heparan sulfate proteoglycan binding. {ECO:0000255}.				acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TGCTTGCCTCGTTTTCCTGGT	0.552																																						uc003bzx.2																			0					0	GRCh37	CM030023	COLQ	M		c.(706-708)CGA>TGA		acetylcholinesterase collagen-like tail subunit							392.0	275.0	315.0					3																	15512054		2203	4300	6503	SO:0001587	stop_gained	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15512054G>A	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.706C>T	3.37:g.15512054G>A	ENSP00000373298:p.Arg236*					COLQ_uc003bzv.2_Nonsense_Mutation_p.R226*|COLQ_uc003bzz.2_Nonsense_Mutation_p.R227*|COLQ_uc010heo.2_Nonsense_Mutation_p.R202*|COLQ_uc003cac.1_RNA|COLQ_uc003cae.1_Nonsense_Mutation_p.R95*|COLQ_uc003cad.1_RNA	p.R236*	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN			11	832	-			236			Heparan sulfate proteoglycan binding (Potential).|Collagen-like 1.		B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Nonsense_Mutation	SNP	ENST00000383788.5	37	c.706C>T	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	G	37	6.507849	0.97624	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383785;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786;ENST00000430319	.	.	.	6.04	5.14	0.70334	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2321	14.0019	0.64437	0.0:0.0:0.8328:0.1672	.	.	.	.	X	227;226;226;236;236;226;236;202;179	.	ENSP00000373291:R226X	R	-	1	2	COLQ	15487058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.675000	0.37555	1.506000	0.48736	0.561000	0.74099	CGA		0.552	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	NM_005677	
ROBO1	6091	broad.mit.edu	37	3	79639041	79639042	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:79639041_79639042delAG	ENST00000464233.1	-	2	133_134	c.20_21delCT	c.(19-21)cctfs	p.P7fs		NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	7					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)	p.P7H(2)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGACCAAAAAAGGAACATGTTT	0.381																																						uc003dqe.2																			2	Substitution - Missense(2)		haematopoietic_and_lymphoid_tissue(2)	large_intestine(2)	2						c.(19-21)CCTfs		roundabout 1 isoform a																																				SO:0001589	frameshift_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:79639041_79639042delAG	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.20_21delCT	3.37:g.79639041_79639042delAG	ENSP00000420321:p.Pro7fs						p.P7fs	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	2	228_229	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	7					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Frame_Shift_Del	DEL	ENST00000464233.1	37	c.20_21delCT	CCDS54611.1																																																																																				0.381	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941	
PIK3CA	5290	broad.mit.edu	37	3	178916921	178916921	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:178916921A>G	ENST00000263967.3	+	2	465	c.308A>G	c.(307-309)gAa>gGa	p.E103G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	103	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				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)			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)	AAAGTAATTGAACCAGTAGGC	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(307-309)GAA>GGA		phosphoinositide-3-kinase, catalytic, alpha							93.0	88.0	90.0					3																	178916921		1817	4070	5887	SO:0001583	missense	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.chr3:178916921A>G		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.308A>G	3.37:g.178916921A>G	ENSP00000263967:p.Glu103Gly	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E103G	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)		2	465	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		103			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.308A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.094708	0.76870	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.74632	-0.86;-0.86	5.52	5.52	0.82312	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.84813	0.5555	M	0.73217	2.22	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.85252	0.1045	9	.	.	.	-15.5947	15.6301	0.76899	1.0:0.0:0.0:0.0	.	103	P42336	PK3CA_HUMAN	G	103	ENSP00000263967:E103G;ENSP00000417479:E103G	.	E	+	2	0	PIK3CA	180399615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.155000	0.77445	2.089000	0.63090	0.454000	0.30748	GAA		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						uc003fuw.2																			0					0						c.(22-24)CCA>CCG		SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1);																																						727956							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G						SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA	p.P8P							9	1218	+									Silent	SNP	ENST00000445430.1	37	c.24A>G																																																																																					0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1		
HELT	391723	broad.mit.edu	37	4	185940979	185940979	+	Missense_Mutation	SNP	C	C	T	rs147187823		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr4:185940979C>T	ENST00000515777.1	+	3	299	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	HELT_ENST00000505610.1_Missense_Mutation_p.P71S|HELT_ENST00000338875.4_Missense_Mutation_p.P156S			A6NFD8	HELT_HUMAN	helt bHLH transcription factor	71					central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CGCTGATTTTCCCCGGGGAAG	0.632													c|||	1	0.000199681	0.0008	0.0	5008	,	,		15683	0.0		0.0	False		,,,				2504	0.0					uc011ckq.1																			0					0						c.(466-468)CCC>TCC		HES/HEY-like transcription factor		C	SER/PRO	3,4401		0,3,2199	26.0	26.0	26.0		466	4.9	1.0	4	dbSNP_134	26	0,8600		0,0,4300	yes	missense	HELT	NM_001029887.1	74	0,3,6499	TT,TC,CC		0.0,0.0681,0.0231	benign	156/328	185940979	3,13001	2202	4300	6502	SO:0001583	missense	391723						DNA binding	g.chr4:185940979C>T	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.211C>T	4.37:g.185940979C>T	ENSP00000426033:p.Pro71Ser					HELT_uc011cko.1_Missense_Mutation_p.P71S|HELT_uc003ixa.3_Missense_Mutation_p.P71S|HELT_uc011ckp.1_Missense_Mutation_p.P15S	p.P156S	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	3	466	+		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	156					B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	ENST00000515777.1	37	c.466C>T		.	.	.	.	.	.	.	.	.	.	C	13.55	2.269824	0.40095	6.81E-4	0.0	ENSG00000187821	ENST00000505610;ENST00000515777;ENST00000338875	T;T;D	0.98221	-0.09;-0.09;-4.8	4.89	4.89	0.63831	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95430	0.8516	L	0.38953	1.18	0.80722	D	1	B;B;B	0.31769	0.339;0.023;0.066	B;B;B	0.26094	0.066;0.012;0.028	D	0.94698	0.7880	10	0.15952	T	0.53	-11.869	17.8433	0.88721	0.0:1.0:0.0:0.0	.	156;71;71	A6NFD8;B7ZMI7;A6NFD8-2	HELT_HUMAN;.;.	S	71;71;156	ENSP00000422140:P71S;ENSP00000426033:P71S;ENSP00000343464:P156S	ENSP00000343464:P156S	P	+	1	0	HELT	186177973	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.411000	0.80078	2.551000	0.86045	0.561000	0.74099	CCC		0.632	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000360792.1	NM_001300781	
SLCO6A1	133482	broad.mit.edu	37	5	101735262	101735262	+	Missense_Mutation	SNP	G	G	A	rs139495343		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:101735262G>A	ENST00000506729.1	-	10	1982	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.T542M|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.T351M|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.T604M|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.T351M			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	604						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TACATACCGCGTCATGGCCAA	0.284													g|||	1	0.000199681	0.0008	0.0	5008	,	,		13474	0.0		0.0	False		,,,				2504	0.0					uc003knn.2																			0				ovary(3)|skin(3)|central_nervous_system(1)	7						c.(1810-1812)ACG>ATG		solute carrier organic anion transporter family,							59.0	56.0	57.0					5																	101735262		2202	4300	6502	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101735262G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1811C>T	5.37:g.101735262G>A	ENSP00000421339:p.Thr604Met					SLCO6A1_uc003kno.2_Missense_Mutation_p.T351M|SLCO6A1_uc003knp.2_Missense_Mutation_p.T604M|SLCO6A1_uc003knq.2_Missense_Mutation_p.T542M	p.T604M	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	10	1983	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	604			Helical; Name=10; (Potential).		A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1811C>T	CCDS34206.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	5.253	0.232178	0.09969	.	.	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	5.12	1.41	0.22369	Major facilitator superfamily domain, general substrate transporter (1);	1.347460	0.04763	N	0.426685	T	0.15305	0.0369	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.14438	0.006;0.007;0.01	B;B;B	0.11329	0.003;0.001;0.006	T	0.22208	-1.0223	10	0.41790	T	0.15	.	8.7833	0.34804	0.8311:0.0:0.1689:0.0	.	542;351;604	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	M	604;604;542;351;351	ENSP00000421339:T604M;ENSP00000369135:T604M;ENSP00000373671:T542M;ENSP00000421990:T351M;ENSP00000369138:T351M	ENSP00000369135:T604M	T	-	2	0	SLCO6A1	101763161	0.037000	0.19845	0.000000	0.03702	0.000000	0.00434	1.852000	0.39348	0.158000	0.19367	-1.879000	0.00546	ACG		0.284	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
REEP2	51308	broad.mit.edu	37	5	137781275	137781275	+	Silent	SNP	G	G	A	rs373069993		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:137781275G>A	ENST00000254901.5	+	7	800	c.678G>A	c.(676-678)gcG>gcA	p.A226A	REEP2_ENST00000506158.1_Silent_p.A188A|REEP2_ENST00000378339.2_Silent_p.A228A	NM_016606.2	NP_057690.2	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	226					cell death (GO:0008219)|endoplasmic reticulum tubular network organization (GO:0071786)|protein transport into membrane raft (GO:0032596)|regulation of intracellular transport (GO:0032386)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAAAAAAGCGCCCAAAGCTG	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		15862	0.0		0.0	False		,,,				2504	0.001					uc003lcz.2																			0					0						c.(676-678)GCG>GCA		receptor accessory protein 2		G		1,4405	2.1+/-5.4	0,1,2202	50.0	55.0	53.0		678	-2.5	0.8	5		53	0,8600		0,0,4300	no	coding-synonymous	REEP2	NM_016606.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		226/253	137781275	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51308					integral to membrane		g.chr5:137781275G>A	AK056193	CCDS4205.1, CCDS64259.1	5q31	2014-03-12	2006-02-07	2006-02-07	ENSG00000132563	ENSG00000132563		"""Receptor accessory proteins"""	17975	protein-coding gene	gene with protein product		609347	"""chromosome 5 open reading frame 19"""	C5orf19		16271481, 15550249, 24388663	Standard	NM_016606		Approved	SGC32445, SPG72	uc003lda.4	Q9BRK0	OTTHUMG00000129205	ENST00000254901.5:c.678G>A	5.37:g.137781275G>A						REEP2_uc003lda.2_Silent_p.A228A|REEP2_uc011cyt.1_Silent_p.A187A	p.A226A	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		7	800	+			226					Q53EM8|Q9NYF2	Silent	SNP	ENST00000254901.5	37	c.678G>A	CCDS4205.1																																																																																				0.592	REEP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251284.1	NM_016606	
PCDHA12	56137	broad.mit.edu	37	5	140257259	140257259	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:140257259G>A	ENST00000398631.2	+	1	2202	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	734	5 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682																																					Pancreas(113;759 1672 13322 24104 50104)	uc003lic.2																			0					0						c.(2200-2202)CCG>CCA		protocadherin alpha 12 isoform 1 precursor							28.0	28.0	28.0					5																	140257259		2201	4300	6501	SO:0001819	synonymous_variant	56137				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr5:140257259G>A	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.2202G>A	5.37:g.140257259G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.P734P	p.P734P	NM_018903	NP_061726	Q9UN75	PCDAC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2329	+			734			5 X 4 AA repeats of P-X-X-P.|Cytoplasmic (Potential).|PXXP 1.		O75278|Q2M1N8	Silent	SNP	ENST00000398631.2	37	c.2202G>A	CCDS47285.1																																																																																				0.682	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903	
MAML1	9794	broad.mit.edu	37	5	179192466	179192466	+	Missense_Mutation	SNP	C	C	A	rs551874527		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:179192466C>A	ENST00000292599.3	+	2	718	c.455C>A	c.(454-456)tCc>tAc	p.S152Y	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCATCTCTTCCAATGGACTG	0.602																																						uc003mkm.2																			0				lung(4)|ovary(2)	6						c.(454-456)TCC>TAC		mastermind-like 1							45.0	50.0	48.0					5																	179192466		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192466C>A	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.455C>A	5.37:g.179192466C>A	ENSP00000292599:p.Ser152Tyr					MAML1_uc003mkn.1_Missense_Mutation_p.S152Y	p.S152Y	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	718	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	152						Missense_Mutation	SNP	ENST00000292599.3	37	c.455C>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842446	0.51057	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.48836	0.8	5.11	5.11	0.69529	.	0.378995	0.25319	N	0.031533	T	0.64283	0.2584	M	0.64997	1.995	0.43777	D	0.996308	D;P	0.62365	0.991;0.95	P;P	0.59643	0.861;0.629	T	0.67237	-0.5721	10	0.62326	D	0.03	-7.934	18.5375	0.91015	0.0:1.0:0.0:0.0	.	189;152	Q59GH4;Q92585	.;MAML1_HUMAN	Y	152;189	ENSP00000292599:S152Y	ENSP00000292599:S152Y	S	+	2	0	MAML1	179125072	1.000000	0.71417	0.957000	0.39632	0.393000	0.30537	5.321000	0.65846	2.367000	0.80283	0.462000	0.41574	TCC		0.602	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757	
DSP	1832	broad.mit.edu	37	6	7583891	7583891	+	Silent	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:7583891G>A	ENST00000379802.3	+	24	6737	c.6396G>A	c.(6394-6396)ggG>ggA	p.G2132G	DSP_ENST00000418664.2_Silent_p.G1533G	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2132	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGCTTCAGGGGGTGTAGTAG	0.473																																						uc003mxp.1																			0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(6394-6396)GGG>GGA		desmoplakin isoform I							54.0	59.0	57.0					6																	7583891		2203	4300	6503	SO:0001819	synonymous_variant	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7583891G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6396G>A	6.37:g.7583891G>A						DSP_uc003mxq.1_Silent_p.G1533G	p.G2132G	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6675	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2132			Plectin 4.|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	ENST00000379802.3	37	c.6396G>A	CCDS4501.1																																																																																				0.473	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
JARID2	3720	broad.mit.edu	37	6	15520428	15520428	+	Silent	SNP	C	C	T	rs200263166	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:15520428C>T	ENST00000341776.2	+	18	3931	c.3687C>T	c.(3685-3687)ccC>ccT	p.P1229P	JARID2_ENST00000397311.3_Silent_p.P1057P	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	1229					central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGGACGTGCCCCCCTCCCGTC	0.488													C|||	2	0.000399361	0.0	0.0	5008	,	,		15115	0.0		0.001	False		,,,				2504	0.001					uc003nbj.2																			0				ovary(2)|lung(1)|pancreas(1)	4						c.(3685-3687)CCC>CCT		jumonji, AT rich interactive domain 2 protein		C		0,4406		0,0,2203	81.0	78.0	79.0		3687	-1.0	1.0	6		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	JARID2	NM_004973.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1229/1247	15520428	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15520428C>T	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.3687C>T	6.37:g.15520428C>T						JARID2_uc011div.1_Silent_p.P1057P	p.P1229P	NM_004973	NP_004964	Q92833	JARD2_HUMAN			18	3931	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	1229					A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Silent	SNP	ENST00000341776.2	37	c.3687C>T	CCDS4533.1																																																																																				0.488	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973	
HIST1H2BF	8343	broad.mit.edu	37	6	26199947	26199947	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:26199947G>A	ENST00000359985.1	+	1	200	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3D_ENST00000356476.2_5'Flank|HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCCGACACCGGCATCTCATCC	0.567																																						uc003ngx.2																			0					0						c.(160-162)GGC>GAC		histone cluster 1, H2bf							222.0	205.0	211.0					6																	26199947		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199947G>A	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.161G>A	6.37:g.26199947G>A	ENSP00000353074:p.Gly54Asp					HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	p.G54D	NM_003522	NP_003513	P62807	H2B1C_HUMAN			1	161	+		all_hematologic(11;0.196)	54					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.161G>A	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	16.80	3.222980	0.58668	.	.	ENSG00000197846	ENST00000359985	T	0.69435	-0.4	3.89	3.89	0.44902	.	0.000000	0.42172	D	0.000755	T	0.73442	0.3587	.	.	.	0.41511	D	0.988346	.	.	.	.	.	.	T	0.78807	-0.2059	7	0.87932	D	0	.	15.7145	0.77658	0.0:0.0:1.0:0.0	.	.	.	.	D	54	ENSP00000353074:G54D	ENSP00000353074:G54D	G	+	2	0	HIST1H2BF	26307926	1.000000	0.71417	0.996000	0.52242	0.014000	0.08584	9.518000	0.98022	2.102000	0.63906	0.650000	0.86243	GGC		0.567	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522	
LGSN	51557	broad.mit.edu	37	6	64004847	64004847	+	Missense_Mutation	SNP	A	A	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:64004847A>C	ENST00000370657.4	-	2	167	c.134T>G	c.(133-135)gTg>gGg	p.V45G	LGSN_ENST00000370658.5_Missense_Mutation_p.V45G			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	45					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CGTTTCTCCCACTTCAGTTGA	0.393																																						uc003peh.2																			0				skin(2)	2						c.(133-135)GTG>GGG		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						260.0	231.0	241.0					6																	64004847		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:64004847A>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.134T>G	6.37:g.64004847A>C	ENSP00000359691:p.Val45Gly					LGSN_uc003pei.2_Missense_Mutation_p.V45G|LGSN_uc003pej.1_Missense_Mutation_p.V45G	p.V45G	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			2	168	-			45					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.134T>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	A	3.817	-0.038626	0.07497	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.22336	1.96;2.0	4.71	2.23	0.28157	.	0.626928	0.17339	N	0.177812	T	0.03220	0.0094	L	0.29908	0.895	0.09310	N	1	B;B;B	0.18013	0.025;0.011;0.0	B;B;B	0.14578	0.011;0.007;0.001	T	0.43940	-0.9360	10	0.18276	T	0.48	-1.9999	1.7541	0.02978	0.5621:0.1803:0.0959:0.1617	.	45;45;45	Q5TDP6-3;Q5TDP6-2;Q5TDP6	.;.;LGSN_HUMAN	G	45	ENSP00000359692:V45G;ENSP00000359691:V45G	ENSP00000359691:V45G	V	-	2	0	LGSN	64062806	0.084000	0.21492	0.106000	0.21319	0.184000	0.23303	1.033000	0.30191	0.247000	0.21414	0.482000	0.46254	GTG		0.393	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
HECA	51696	broad.mit.edu	37	6	139487771	139487771	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:139487771G>A	ENST00000367658.2	+	2	907	c.622G>A	c.(622-624)Gag>Aag	p.E208K	RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	208					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GTCTGGCTCCGAGAAGAACAC	0.592																																						uc003qin.2																			0					0						c.(622-624)GAG>AAG		headcase							39.0	45.0	42.0					6																	139487771		2203	4300	6503	SO:0001583	missense	51696				respiratory tube development			g.chr6:139487771G>A	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.622G>A	6.37:g.139487771G>A	ENSP00000356630:p.Glu208Lys						p.E208K	NM_016217	NP_057301	Q9UBI9	HDC_HUMAN		GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)	2	907	+			208						Missense_Mutation	SNP	ENST00000367658.2	37	c.622G>A	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096141	0.76870	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.13	5.13	0.70059	.	0.155014	0.51477	D	0.000083	T	0.56834	0.2012	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.51926	-0.8643	9	0.27082	T	0.32	.	18.7842	0.91947	0.0:0.0:1.0:0.0	.	208	Q9UBI9	HDC_HUMAN	K	208	.	ENSP00000356630:E208K	E	+	1	0	HECA	139529464	1.000000	0.71417	0.960000	0.40013	0.874000	0.50279	9.142000	0.94618	2.676000	0.91093	0.655000	0.94253	GAG		0.592	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042456.1	NM_016217	
NOD1	10392	broad.mit.edu	37	7	30492358	30492358	+	Silent	SNP	G	G	A	rs150842987		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:30492358G>A	ENST00000222823.4	-	6	1200	c.675C>T	c.(673-675)gaC>gaT	p.D225D	NOD1_ENST00000423334.2_Intron	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	225	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGACCCCTGCGTCTAGCCGGC	0.577																																						uc003tav.2																			0				ovary(1)|skin(1)	2						c.(673-675)GAC>GAT		nucleotide-binding oligomerization domain							69.0	73.0	71.0					7																	30492358		2203	4300	6503	SO:0001819	synonymous_variant	10392				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity	g.chr7:30492358G>A	AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.675C>T	7.37:g.30492358G>A						NOD1_uc010kvs.2_Intron	p.D225D	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN			6	1198	-			225			NACHT.		B4DTU3|Q549U4|Q8IWF5	Silent	SNP	ENST00000222823.4	37	c.675C>T	CCDS5427.1																																																																																				0.577	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2		
VPS41	27072	broad.mit.edu	37	7	38835094	38835094	+	Missense_Mutation	SNP	G	G	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:38835094G>C	ENST00000310301.4	-	9	742	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	VPS41_ENST00000466017.1_5'UTR|VPS41_ENST00000395969.2_Missense_Mutation_p.L205V	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	230					Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	cytosol (GO:0005829)|early endosome (GO:0005769)|Golgi-associated vesicle (GO:0005798)|HOPS complex (GO:0030897)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCAATAATCAGTGTCACATTG	0.468																																						uc003tgy.2																			0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(688-690)CTG>GTG		vacuolar protein sorting 41 isoform 1							108.0	97.0	101.0					7																	38835094		2203	4300	6503	SO:0001583	missense	27072				Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding	g.chr7:38835094G>C	U87309	CCDS5457.1, CCDS5458.2	7p14.1-p13	2009-05-08	2006-12-19		ENSG00000006715	ENSG00000006715			12713	protein-coding gene	gene with protein product		605485	"""vacuolar protein sorting 41 (yeast homolog)"", ""vacuolar protein sorting 41 (yeast)"""			9159129	Standard	NM_080631		Approved	HVSP41	uc003tgy.3	P49754	OTTHUMG00000023629	ENST00000310301.4:c.688C>G	7.37:g.38835094G>C	ENSP00000309457:p.Leu230Val					VPS41_uc003tgz.2_Missense_Mutation_p.L205V|VPS41_uc010kxn.2_Intron	p.L230V	NM_014396	NP_055211	P49754	VPS41_HUMAN			9	714	-			230					E9PF36|Q86TP8|Q99851|Q99852	Missense_Mutation	SNP	ENST00000310301.4	37	c.688C>G	CCDS5457.1	.	.	.	.	.	.	.	.	.	.	G	32	5.176513	0.94846	.	.	ENSG00000006715	ENST00000310301;ENST00000395969;ENST00000413141	T;T;T	0.60548	0.18;0.18;0.27	5.82	5.82	0.92795	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.79551	0.4465	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.80450	-0.1377	10	0.59425	D	0.04	-11.5681	20.0852	0.97797	0.0:0.0:1.0:0.0	.	205;230	E9PF36;P49754	.;VPS41_HUMAN	V	230;205;156	ENSP00000309457:L230V;ENSP00000379297:L205V;ENSP00000412974:L156V	ENSP00000309457:L230V	L	-	1	2	VPS41	38801619	1.000000	0.71417	0.987000	0.45799	0.950000	0.60333	9.808000	0.99193	2.756000	0.94617	0.561000	0.74099	CTG		0.468	VPS41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226986.3		
POM121L12	285877	broad.mit.edu	37	7	53103860	53103860	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:53103860G>A	ENST00000408890.4	+	1	512	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	166										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ccgccccgccgcccAGGAGCT	0.721																																						uc003tpz.2																			0					0						c.(496-498)GCC>ACC		POM121 membrane glycoprotein-like 12							12.0	16.0	15.0					7																	53103860		1806	4024	5830	SO:0001583	missense	285877							g.chr7:53103860G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.496G>A	7.37:g.53103860G>A	ENSP00000386133:p.Ala166Thr						p.A166T	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	512	+			166					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.496G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	8.040	0.763579	0.15914	.	.	ENSG00000221900	ENST00000408890	T	0.24350	1.86	1.89	-3.79	0.04320	.	.	.	.	.	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B	0.31459	0.324	B	0.14023	0.01	T	0.12604	-1.0541	9	0.56958	D	0.05	.	0.288	0.00254	0.2327:0.1587:0.251:0.3576	.	166	Q8N7R1	P1L12_HUMAN	T	166	ENSP00000386133:A166T	ENSP00000386133:A166T	A	+	1	0	POM121L12	53071354	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.589000	0.02104	-2.102000	0.00845	0.650000	0.86243	GCC		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
POM121L12	285877	broad.mit.edu	37	7	53104151	53104151	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:53104151G>A	ENST00000408890.4	+	1	803	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	263										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCCCCATCCGCCATCTGGGA	0.662																																						uc003tpz.2																			0					0						c.(787-789)GCC>ACC		POM121 membrane glycoprotein-like 12							49.0	55.0	53.0					7																	53104151		2014	4176	6190	SO:0001583	missense	285877							g.chr7:53104151G>A		CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.787G>A	7.37:g.53104151G>A	ENSP00000386133:p.Ala263Thr						p.A263T	NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN			1	803	+			263					Q8NDI9	Missense_Mutation	SNP	ENST00000408890.4	37	c.787G>A	CCDS43584.1	.	.	.	.	.	.	.	.	.	.	G	13.92	2.381964	0.42207	.	.	ENSG00000221900	ENST00000408890	T	0.30714	1.52	2.16	-0.192	0.13248	.	.	.	.	.	T	0.10766	0.0263	N	0.08118	0	0.09310	N	1	P	0.37997	0.614	B	0.23275	0.045	T	0.15723	-1.0427	9	0.72032	D	0.01	.	4.2117	0.10514	0.5664:0.0:0.4336:0.0	.	263	Q8N7R1	P1L12_HUMAN	T	263	ENSP00000386133:A263T	ENSP00000386133:A263T	A	+	1	0	POM121L12	53071645	0.007000	0.16637	0.000000	0.03702	0.004000	0.04260	1.338000	0.33873	-0.041000	0.13558	0.561000	0.74099	GCC		0.662	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342656.1	NM_182595	
EGFR	1956	broad.mit.edu	37	7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	rs149840192		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:55221822C>A	ENST00000275493.2	+	7	1043	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_ENST00000442591.1_Missense_Mutation_p.A289D|EGFR_ENST00000342916.3_Missense_Mutation_p.A289D|EGFR_ENST00000420316.2_Missense_Mutation_p.A289D|EGFR_ENST00000454757.2_Missense_Mutation_p.A236D|EGFR_ENST00000344576.2_Missense_Mutation_p.A289D|EGFR_ENST00000455089.1_Missense_Mutation_p.A244D	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	A|O|Mis	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	glioma|NSCLC		23	Substitution - Missense(23)	p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3)	central_nervous_system(23)	lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1)	9571						c.(865-867)GCC>GAC		epidermal growth factor receptor isoform a	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						178.0	142.0	154.0					7																	55221822		2203	4300	6503	SO:0001583	missense	1956	Lung_Cancer_Familial_Clustering_of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221822C>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.866C>A	7.37:g.55221822C>A	ENSP00000275493:p.Ala289Asp	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.2_Missense_Mutation_p.A289D|EGFR_uc003tqi.2_Missense_Mutation_p.A289D|EGFR_uc003tqj.2_Missense_Mutation_p.A289D|EGFR_uc010kzg.1_Missense_Mutation_p.A244D|EGFR_uc011kco.1_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289D	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	1112	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289			Approximate.|Extracellular (Potential).		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.866C>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459485	0.96240	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.73992	0.3658	L	0.41710	1.295	0.80722	D	1	P;D;P;D;P	0.69078	0.933;0.997;0.954;0.991;0.685	B;D;P;P;B	0.79784	0.424;0.993;0.652;0.649;0.241	T	0.74890	-0.3510	10	0.87932	D	0	.	18.9232	0.92534	0.0:1.0:0.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	D	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244D;ENSP00000342376:A289D;ENSP00000345973:A289D;ENSP00000413843:A289D;ENSP00000275493:A289D;ENSP00000410031:A289D;ENSP00000395243:A236D	ENSP00000275493:A289D	A	+	2	0	EGFR	55189316	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.794000	0.85869	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
LRWD1	222229	broad.mit.edu	37	7	102106371	102106371	+	Missense_Mutation	SNP	C	C	T	rs371342787		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:102106371C>T	ENST00000292616.5	+	2	340	c.188C>T	c.(187-189)cCg>cTg	p.P63L	MIR5090_ENST00000582533.1_RNA|ALKBH4_ENST00000292566.3_5'Flank	NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	63					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA replication initiation (GO:0006270)|establishment of protein localization to chromatin (GO:0071169)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear origin of replication recognition complex (GO:0005664)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|telomeric heterochromatin (GO:0031933)	chromatin binding (GO:0003682)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)	p.P63L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GAGACGCTGCCGGACAACCTG	0.622																																						uc003uzn.2																			1	Substitution - Missense(1)		large_intestine(1)	skin(1)	1						c.(187-189)CCG>CTG		leucine-rich repeats and WD repeat domain		C	LEU/PRO	0,4406		0,0,2203	48.0	49.0	49.0		188	5.0	0.6	7		49	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRWD1	NM_152892.1	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	63/648	102106371	1,13005	2203	4300	6503	SO:0001583	missense	222229				chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	g.chr7:102106371C>T	AL133057	CCDS34715.1	7q22.1	2013-01-10			ENSG00000161036	ENSG00000161036		"""WD repeat domain containing"""	21769	protein-coding gene	gene with protein product	"""origin recognition complex associated"", ""centromere protein 33"""	615167				20932478, 20850016, 20180869	Standard	NM_152892		Approved	DKFZp434K1815, ORCA, CENP-33	uc003uzn.3	Q9UFC0	OTTHUMG00000157718	ENST00000292616.5:c.188C>T	7.37:g.102106371C>T	ENSP00000292616:p.Pro63Leu					ALKBH4_uc003uzl.2_5'Flank|ALKBH4_uc003uzm.2_5'Flank|LRWD1_uc003uzo.2_5'UTR	p.P63L	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN			2	326	+			63			LRR 2.		A8K4K2|B2R9G2|Q8N0T9|Q8WV43|Q96GJ2	Missense_Mutation	SNP	ENST00000292616.5	37	c.188C>T	CCDS34715.1	.	.	.	.	.	.	.	.	.	.	C	33	5.218050	0.95104	0.0	1.16E-4	ENSG00000161036	ENST00000292616	T	0.28895	1.59	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.63343	0.2503	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71932	-0.4443	10	0.87932	D	0	-11.7684	17.3718	0.87380	0.0:1.0:0.0:0.0	.	63	Q9UFC0	LRWD1_HUMAN	L	63	ENSP00000292616:P63L	ENSP00000292616:P63L	P	+	2	0	LRWD1	101893376	1.000000	0.71417	0.551000	0.28230	0.937000	0.57800	6.846000	0.75399	2.349000	0.79799	0.561000	0.74099	CCG		0.622	LRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349493.1	NM_152892	
CHRM2	1129	broad.mit.edu	37	7	136700738	136700738	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:136700738A>G	ENST00000445907.2	+	3	1654	c.1126A>G	c.(1126-1128)Aag>Gag	p.K376E	hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.K376E|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.K376E|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.K376E|CHRM2_ENST00000453373.1_Missense_Mutation_p.K376E|CHRM2_ENST00000402486.3_Missense_Mutation_p.K376E|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	376					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TGCAAAAAAGAAGCCTCCTCC	0.478																																						uc003vtf.1																			0				ovary(4)|central_nervous_system(1)	5						c.(1126-1128)AAG>GAG		cholinergic receptor, muscarinic 2	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						88.0	90.0	89.0					7																	136700738		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700738A>G		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1126A>G	7.37:g.136700738A>G	ENSP00000399745:p.Lys376Glu					CHRM2_uc003vtg.1_Missense_Mutation_p.K376E|CHRM2_uc003vtj.1_Missense_Mutation_p.K376E|CHRM2_uc003vtk.1_Missense_Mutation_p.K376E|CHRM2_uc003vtl.1_Missense_Mutation_p.K376E|CHRM2_uc003vtm.1_Missense_Mutation_p.K376E|CHRM2_uc003vti.1_Missense_Mutation_p.K376E|CHRM2_uc003vto.1_Missense_Mutation_p.K376E|CHRM2_uc003vtn.1_Missense_Mutation_p.K376E|uc003vtp.1_Intron	p.K376E	NM_001006630	NP_001006631	P08172	ACM2_HUMAN			4	1749	+			376			Cytoplasmic (By similarity).		Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.1126A>G	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.980412	0.74474	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76;-0.76;-0.76	5.67	5.67	0.87782	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84777	0.5547	M	0.84773	2.715	0.80722	D	1	P	0.42961	0.795	P	0.52957	0.714	D	0.86889	0.2047	10	0.66056	D	0.02	-8.6078	15.9204	0.79562	1.0:0.0:0.0:0.0	.	376	P08172	ACM2_HUMAN	E	376	ENSP00000399745:K376E;ENSP00000415386:K376E;ENSP00000319984:K376E;ENSP00000380733:K376E;ENSP00000384937:K376E;ENSP00000384401:K376E	ENSP00000319984:K376E	K	+	1	0	CHRM2	136351278	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.251000	0.78297	2.164000	0.68074	0.533000	0.62120	AAG		0.478	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
SFRP1	6422	broad.mit.edu	37	8	41166547	41166547	+	Silent	SNP	G	G	T	rs551082706		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr8:41166547G>T	ENST00000220772.3	-	1	469	c.132C>A	c.(130-132)ggC>ggA	p.G44G	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	44					bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G44G(3)		breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCTGGTACGGGCCGATGTCCG	0.687																																						uc003xnt.2																			3	Substitution - coding silent(3)		endometrium(2)|lung(1)	central_nervous_system(1)	1						c.(130-132)GGC>GGA		secreted frizzled-related protein 1 precursor							41.0	42.0	42.0					8																	41166547		2202	4300	6502	SO:0001819	synonymous_variant	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41166547G>T	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.132C>A	8.37:g.41166547G>T							p.G44G	NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		1	434	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	44					O00546|O14779	Silent	SNP	ENST00000220772.3	37	c.132C>A	CCDS34886.1																																																																																				0.687	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012	
RP1	6101	broad.mit.edu	37	8	55541829	55541829	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr8:55541829C>T	ENST00000220676.1	+	4	5535	c.5387C>T	c.(5386-5388)aCg>aTg	p.T1796M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1796					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.T1796M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCAGGCCCAACGATGGATGAA	0.448																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			1	Substitution - Missense(1)	p.T1796T(1)	endometrium(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(5386-5388)ACG>ATG		retinitis pigmentosa RP1 protein							77.0	74.0	75.0					8																	55541829		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541829C>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5387C>T	8.37:g.55541829C>T	ENSP00000220676:p.Thr1796Met					RP1_uc011ldy.1_Intron	p.T1796M	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5535	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1796						Missense_Mutation	SNP	ENST00000220676.1	37	c.5387C>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	9.173	1.021724	0.19433	.	.	ENSG00000104237	ENST00000220676	T	0.21191	2.02	5.93	-7.18	0.01505	.	1.642690	0.03391	N	0.201882	T	0.15132	0.0365	L	0.36672	1.1	0.09310	N	1	B	0.31968	0.349	B	0.31191	0.125	T	0.23762	-1.0179	10	0.66056	D	0.02	.	7.0392	0.25010	0.1497:0.3819:0.3642:0.1042	.	1796	P56715	RP1_HUMAN	M	1796	ENSP00000220676:T1796M	ENSP00000220676:T1796M	T	+	2	0	RP1	55704382	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.201000	0.17276	-1.915000	0.01077	-2.053000	0.00404	ACG		0.448	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269	
DOCK8	81704	broad.mit.edu	37	9	286571	286571	+	Silent	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:286571C>T	ENST00000453981.1	+	3	379	c.267C>T	c.(265-267)gaC>gaT	p.D89D	DOCK8_ENST00000469391.1_Silent_p.D21D|DOCK8_ENST00000432829.2_Silent_p.D21D			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	89					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCACTGATGACGACTTGGACG	0.507																																						uc003zgf.2																			0				ovary(3)|central_nervous_system(3)	6						c.(265-267)GAC>GAT		dedicator of cytokinesis 8							132.0	116.0	122.0					9																	286571		2203	4300	6503	SO:0001819	synonymous_variant	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:286571C>T	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.267C>T	9.37:g.286571C>T						DOCK8_uc011lls.1_Silent_p.D89D|DOCK8_uc010mgu.2_Translation_Start_Site|DOCK8_uc010mgv.2_Silent_p.D21D|DOCK8_uc010mgt.2_Silent_p.D21D|DOCK8_uc003zgg.2_Silent_p.D21D|DOCK8_uc003zgh.2_RNA	p.D89D	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	3	379	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	89					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Silent	SNP	ENST00000453981.1	37	c.267C>T	CCDS6440.2																																																																																				0.507	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
TMEM215	401498	broad.mit.edu	37	9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:32784414G>A	ENST00000342743.5	+	2	598	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	78						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597																																						uc003zri.3																			0					0						c.(232-234)CGC>CAC		transmembrane protein 215							85.0	76.0	79.0					9																	32784414		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784414G>A		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.233G>A	9.37:g.32784414G>A	ENSP00000345468:p.Arg78His						p.R78H	NM_212558	NP_997723	Q68D42	TM215_HUMAN			2	598	+			78					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.233G>A	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	8.409	0.843700	0.16963	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.18	4.28	0.50868	.	0.113770	0.38326	N	0.001736	T	0.31040	0.0784	N	0.19112	0.55	0.30856	N	0.734062	B	0.25169	0.119	B	0.17433	0.018	T	0.31530	-0.9940	9	0.56958	D	0.05	-16.3167	9.7196	0.40295	0.0963:0.0:0.9037:0.0	.	78	Q68D42	TM215_HUMAN	H	78	.	ENSP00000345468:R78H	R	+	2	0	TMEM215	32774414	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	3.258000	0.51507	1.184000	0.42957	-0.258000	0.10820	CGC		0.597	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	NM_212558	
TDRD7	23424	broad.mit.edu	37	9	100227272	100227272	+	Silent	SNP	C	C	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:100227272C>A	ENST00000355295.4	+	8	1886	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R	TDRD7_ENST00000422139.2_Silent_p.R457R	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	531	Tudor 1. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|lens fiber cell differentiation (GO:0070306)|lens morphogenesis in camera-type eye (GO:0002089)|posttranscriptional regulation of gene expression (GO:0010608)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|P granule (GO:0043186)|ribonucleoprotein granule (GO:0035770)	mRNA binding (GO:0003729)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CGCCTGGTTACGGGCACAGGT	0.423																																						uc004axj.2																			0				ovary(2)|pancreas(1)	3						c.(1591-1593)CGG>AGG		tudor domain containing 7							79.0	72.0	74.0					9																	100227272		2203	4300	6503	SO:0001819	synonymous_variant	23424				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding	g.chr9:100227272C>A	AB025254	CCDS6725.1	9q22.33	2013-01-23			ENSG00000196116	ENSG00000196116		"""Tudor domain containing"""	30831	protein-coding gene	gene with protein product		611258				21436445	Standard	NM_014290		Approved	PCTAIRE2BP	uc004axj.3	Q8NHU6	OTTHUMG00000020326	ENST00000355295.4:c.1591C>A	9.37:g.100227272C>A						TDRD7_uc011lux.1_Silent_p.R457R	p.R531R	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN			8	1816	+		Acute lymphoblastic leukemia(62;0.158)	531			Tudor 1.		A6NCI6|B2RBX3|B4DG99|B4DXF7|E7EQD4|Q5VV27|Q96JT1|Q9UFF0|Q9Y2M3	Silent	SNP	ENST00000355295.4	37	c.1591C>A	CCDS6725.1																																																																																				0.423	TDRD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053322.1	NM_014290	
TGFBR1	7046	broad.mit.edu	37	9	101900167	101900167	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:101900167A>G	ENST00000374994.4	+	4	718	c.601A>G	c.(601-603)Att>Gtt	p.I201V	TGFBR1_ENST00000374990.2_Missense_Mutation_p.I124V|TGFBR1_ENST00000550253.1_Missense_Mutation_p.I132V|TGFBR1_ENST00000552516.1_Missense_Mutation_p.I205V	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	201	GS. {ECO:0000255|PROSITE- ProRule:PRU00585}.				activation of MAPKK activity (GO:0000186)|angiogenesis (GO:0001525)|anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|artery morphogenesis (GO:0048844)|blastocyst development (GO:0001824)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen fibril organization (GO:0030199)|embryonic cranial skeleton morphogenesis (GO:0048701)|endothelial cell migration (GO:0043542)|epithelial to mesenchymal transition (GO:0001837)|extracellular structure organization (GO:0043062)|germ cell migration (GO:0008354)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|mesenchymal cell differentiation (GO:0048762)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|parathyroid gland development (GO:0060017)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|pharyngeal system development (GO:0060037)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of protein binding (GO:0043393)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|response to cholesterol (GO:0070723)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|thymus development (GO:0048538)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	endosome (GO:0005768)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|tight junction (GO:0005923)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|I-SMAD binding (GO:0070411)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type I (GO:0005025)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCAGAGAACAATTGCGAGAAC	0.358																																						uc004azc.2																			0				lung(2)|ovary(1)	3						c.(601-603)ATT>GTT		transforming growth factor, beta receptor I							132.0	130.0	130.0					9																	101900167		2203	4300	6503	SO:0001583	missense	7046				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	g.chr9:101900167A>G		CCDS6738.1, CCDS47998.1	9q22	2014-01-30	2008-07-31		ENSG00000106799	ENSG00000106799			11772	protein-coding gene	gene with protein product	"""activin A receptor type II-like kinase, 53kDa"""	190181	"""transforming growth factor, beta receptor I (activin A receptor type II-like kinase, 53kD)"", ""multiple self-healing squamous epithelioma"""	MSSE, ESS1		1319842, 8530052, 21358634	Standard	NM_001130916		Approved	ALK-5, ACVRLK4	uc004azc.3	P36897	OTTHUMG00000020353	ENST00000374994.4:c.601A>G	9.37:g.101900167A>G	ENSP00000364133:p.Ile201Val					TGFBR1_uc004azd.2_Missense_Mutation_p.I124V|TGFBR1_uc011lvc.1_Missense_Mutation_p.I132V	p.I201V	NM_004612	NP_004603	P36897	TGFR1_HUMAN			4	677	+		Acute lymphoblastic leukemia(62;0.0559)	201			Cytoplasmic (Potential).|GS.		Q6IR47|Q706C0|Q706C1	Missense_Mutation	SNP	ENST00000374994.4	37	c.601A>G	CCDS6738.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.639162	0.47153	.	.	ENSG00000106799	ENST00000374994;ENST00000540092;ENST00000374990;ENST00000552516;ENST00000549021;ENST00000550253	D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76	5.59	5.59	0.84812	Protein kinase-like domain (1);TGF beta receptor, GS motif (3);	0.000000	0.85682	D	0.000000	D	0.91825	0.7413	L	0.28344	0.845	0.80722	D	1	B;B	0.24426	0.027;0.103	B;B	0.31946	0.082;0.138	D	0.88658	0.3187	9	.	.	.	.	14.7546	0.69554	1.0:0.0:0.0:0.0	.	124;201	P36897-3;P36897	.;TGFR1_HUMAN	V	201;201;124;205;55;132	ENSP00000364133:I201V;ENSP00000364129:I124V;ENSP00000447297:I205V;ENSP00000449028:I55V;ENSP00000450052:I132V	.	I	+	1	0	TGFBR1	100939988	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.446000	0.60014	2.134000	0.65973	0.528000	0.53228	ATT		0.358	TGFBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053390.3		
PRPS2	5634	broad.mit.edu	37	X	12828240	12828240	+	Missense_Mutation	SNP	T	T	A			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:12828240T>A	ENST00000380668.5	+	4	633	c.505T>A	c.(505-507)Tca>Aca	p.S169T	PRPS2_ENST00000489404.1_Missense_Mutation_p.S169T|PRPS2_ENST00000398491.2_Missense_Mutation_p.S172T	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	169					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TATCATTGTTTCACCTGACGC	0.463																																						uc004cvb.2																			0					0						c.(505-507)TCA>ACA		phosphoribosyl pyrophosphate synthetase 2							111.0	95.0	101.0					X																	12828240		2203	4300	6503	SO:0001583	missense	5634				nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:12828240T>A	Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.505T>A	X.37:g.12828240T>A	ENSP00000370043:p.Ser169Thr					PRPS2_uc004cva.2_Missense_Mutation_p.S172T|PRPS2_uc010nec.2_Missense_Mutation_p.S105T	p.S169T	NM_002765	NP_002756	P11908	PRPS2_HUMAN			4	629	+			169					Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	c.505T>A	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290454	0.40494	.	.	ENSG00000101911	ENST00000380668;ENST00000398491;ENST00000489404;ENST00000461630;ENST00000460220	D;D;D;T	0.96651	-3.12;-3.12;-4.08;-0.76	4.91	4.91	0.64330	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	D	0.97804	0.9279	H	0.94771	3.58	0.80722	D	1	P;P	0.41366	0.747;0.703	P;B	0.48368	0.575;0.439	D	0.98715	1.0706	10	0.87932	D	0	-10.9179	14.0079	0.64475	0.0:0.0:0.0:1.0	.	169;172	P11908;P11908-2	PRPS2_HUMAN;.	T	169;172;169;82;59	ENSP00000370043:S169T;ENSP00000381504:S172T;ENSP00000419380:S169T;ENSP00000418911:S82T	ENSP00000370043:S169T	S	+	1	0	PRPS2	12738161	1.000000	0.71417	0.733000	0.30861	0.366000	0.29705	7.538000	0.82048	1.754000	0.51921	0.483000	0.47432	TCA		0.463	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765	
SSX9	280660	broad.mit.edu	37	X	48164232	48164232	+	RNA	SNP	T	T	C			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:48164232T>C	ENST00000608568.1	-	0	137					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TCTTCTCTGGTATTTGAGAAC	0.557																																						uc010nib.1																			0											c.(49-51)ATA>ATG		synovial sarcoma, X breakpoint 9							248.0	217.0	228.0					X																	48164232		2203	4299	6502			0							g.chrX:48164232T>C	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48164232T>C							p.I17M	NM_174962	NP_777622					2	138	-									Missense_Mutation	SNP	ENST00000608568.1	37	c.51A>G		.	.	.	.	.	.	.	.	.	.	t	4.000	-0.002704	0.07819	.	.	ENSG00000204648	ENST00000376909;ENST00000407081	T;T	0.08458	3.09;3.09	1.51	1.51	0.23008	Krueppel-associated box (1);	1.274600	0.05387	N	0.538247	T	0.07143	0.0181	.	.	.	0.09310	N	1	B	0.15930	0.015	B	0.22601	0.04	T	0.39251	-0.9623	9	0.45353	T	0.12	.	4.665	0.12660	0.0:0.0:0.0:1.0	.	17	Q7RTT3	SSX9_HUMAN	M	17	ENSP00000366107:I17M;ENSP00000385293:I17M	ENSP00000366107:I17M	I	-	3	3	SSX9	48049176	0.004000	0.15560	0.004000	0.12327	0.058000	0.15608	1.149000	0.31626	0.850000	0.35239	0.143000	0.16000	ATA		0.557	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393	
MSN	4478	broad.mit.edu	37	X	64949532	64949532	+	Missense_Mutation	SNP	A	A	G			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:64949532A>G	ENST00000360270.5	+	4	597	c.425A>G	c.(424-426)cAt>cGt	p.H142R		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	142	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AAGGAAGTGCATAAGTCTGGC	0.562			T	ALK	ALCL																																	uc004dwf.2				Dom	yes		X	Xq11.2-q12	4478	T	moesin			L	ALK		ALCL	MSN/ALK(6)	0				haematopoietic_and_lymphoid_tissue(6)|ovary(3)|lung(1)	10						c.(424-426)CAT>CGT		moesin							65.0	46.0	53.0					X																	64949532		2203	4300	6503	SO:0001583	missense	4478				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	g.chrX:64949532A>G	M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.425A>G	X.37:g.64949532A>G	ENSP00000353408:p.His142Arg						p.H142R	NM_002444	NP_002435	P26038	MOES_HUMAN			4	623	+			142			FERM.			Missense_Mutation	SNP	ENST00000360270.5	37	c.425A>G	CCDS14382.1	.	.	.	.	.	.	.	.	.	.	A	17.85	3.489285	0.64074	.	.	ENSG00000147065	ENST00000360270	D	0.84223	-1.82	5.85	5.85	0.93711	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.086699	0.85682	D	0.000000	D	0.92779	0.7704	H	0.95780	3.72	0.80722	D	1	B	0.23316	0.083	B	0.42522	0.39	D	0.92124	0.5706	10	0.72032	D	0.01	.	13.964	0.64199	1.0:0.0:0.0:0.0	.	142	P26038	MOES_HUMAN	R	142	ENSP00000353408:H142R	ENSP00000353408:H142R	H	+	2	0	MSN	64866257	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	9.237000	0.95368	1.984000	0.57885	0.430000	0.28490	CAT		0.562	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056981.1	NM_002444	
HEPH	9843	broad.mit.edu	37	X	65486458	65486458	+	Missense_Mutation	SNP	C	C	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:65486458C>T	ENST00000343002.2	+	20	4085	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	HEPH_ENST00000419594.1_Missense_Mutation_p.R952C|HEPH_ENST00000519389.1_Missense_Mutation_p.R1195C|HEPH_ENST00000374727.3_Missense_Mutation_p.R1144C|HEPH_ENST00000336279.5_Missense_Mutation_p.R874C|HEPH_ENST00000441993.2_Missense_Mutation_p.R1143C			Q9BQS7	HEPH_HUMAN	hephaestin	1141					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAAGCTACGACGCAATAGGAG	0.498																																						uc011moz.1																			0				lung(5)|ovary(4)	9						c.(3430-3432)CGC>TGC		hephaestin isoform a							240.0	164.0	190.0					X																	65486458		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65486458C>T	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3421C>T	X.37:g.65486458C>T	ENSP00000343939:p.Arg1141Cys					HEPH_uc004dwn.2_Missense_Mutation_p.R1143C|HEPH_uc004dwo.2_Missense_Mutation_p.R874C|HEPH_uc010nkr.2_Missense_Mutation_p.R952C|HEPH_uc011mpa.1_Missense_Mutation_p.R1144C	p.R1144C	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			21	3490	+			1141			Cytoplasmic (Potential).		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3430C>T		.	.	.	.	.	.	.	.	.	.	.	18.62	3.663560	0.67700	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99353	-5.77;-5.74;-5.73;-5.73;-5.77;-5.73	5.6	4.68	0.58851	.	0.113219	0.40385	N	0.001118	D	0.98457	0.9486	L	0.29908	0.895	0.44852	D	0.997861	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.61800	0.869;0.889;0.894	D	0.98256	1.0496	10	0.87932	D	0	.	11.3447	0.49554	0.1808:0.8192:0.0:0.0	.	1195;952;1141	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	C	1195;1144;874;1143;952;1141	ENSP00000430620:R1195C;ENSP00000363859:R1144C;ENSP00000337418:R874C;ENSP00000411687:R1143C;ENSP00000413211:R952C;ENSP00000343939:R1141C	ENSP00000337418:R874C	R	+	1	0	HEPH	65403183	0.988000	0.35896	0.931000	0.37212	0.716000	0.41182	2.856000	0.48341	2.354000	0.79902	0.600000	0.82982	CGC		0.498	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737	
DCAF12L2	340578	broad.mit.edu	37	X	125299891	125299891	+	Missense_Mutation	SNP	G	G	T			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:125299891G>T	ENST00000360028.2	-	1	43	c.17C>A	c.(16-18)aCa>aAa	p.T6K	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.T6K			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	6										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGCTACCTGTTTGCTGCTG	0.776																																						uc004euk.1																			0				lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1)	7						c.(16-18)ACA>AAA		DDB1 and CUL4 associated factor 12-like 2							9.0	11.0	11.0					X																	125299891		1979	3914	5893	SO:0001583	missense	340578							g.chrX:125299891G>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.17C>A	X.37:g.125299891G>T	ENSP00000353128:p.Thr6Lys						p.T6K	NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN			1	44	-			6					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.17C>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	g	16.40	3.113186	0.56398	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.20069	2.1;2.1	3.17	3.17	0.36434	.	.	.	.	.	T	0.19525	0.0469	M	0.63428	1.95	0.29615	N	0.846629	B	0.34103	0.437	B	0.27608	0.081	T	0.07809	-1.0753	9	0.39692	T	0.17	.	8.9721	0.35912	0.0:0.0:1.0:0.0	.	6	Q5VW00	DC122_HUMAN	K	6	ENSP00000441489:T6K;ENSP00000353128:T6K	ENSP00000353128:T6K	T	-	2	0	DCAF12L2	125127572	1.000000	0.71417	0.989000	0.46669	0.938000	0.57974	1.762000	0.38451	1.851000	0.53745	0.464000	0.42555	ACA		0.776	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628	
