#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
ZFYVE9	9372	broad.mit.edu	37	1	52704095	52704095	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:52704095G>T	ENST00000371591.1	+	3	1137	c.1006G>T	c.(1006-1008)Ggt>Tgt	p.G336C	ZFYVE9_ENST00000287727.3_Missense_Mutation_p.G336C|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.G336C	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	336					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCTCCGGTCTGGTTTACCTTT	0.468																																						uc001cto.2																			0				ovary(2)|lung(2)|central_nervous_system(2)|skin(2)	8						c.(1006-1008)GGT>TGT		zinc finger, FYVE domain containing 9 isoform 3							98.0	93.0	95.0					1																	52704095		2203	4300	6503	SO:0001583	missense	9372				endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity	g.chr1:52704095G>T	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.1006G>T	1.37:g.52704095G>T	ENSP00000360647:p.Gly336Cys					ZFYVE9_uc001ctn.2_Missense_Mutation_p.G336C|ZFYVE9_uc001ctp.2_Missense_Mutation_p.G336C	p.G336C	NM_004799	NP_004790	O95405	ZFYV9_HUMAN			4	1178	+			336					Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	ENST00000371591.1	37	c.1006G>T	CCDS563.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.820482	0.32145	.	.	ENSG00000157077	ENST00000357206;ENST00000361625;ENST00000287727;ENST00000371591	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	4.75	4.75	0.60458	.	0.642662	0.13638	N	0.373178	T	0.45054	0.1323	N	0.19112	0.55	0.26696	N	0.971259	P;P;D	0.58268	0.911;0.856;0.982	P;B;P	0.57620	0.518;0.319;0.824	T	0.19289	-1.0310	10	0.23302	T	0.38	.	10.0021	0.41935	0.101:0.0:0.899:0.0	.	336;336;336	O95405-2;O95405;O95405-3	.;ZFYV9_HUMAN;.	C	336	ENSP00000349737:G336C;ENSP00000355358:G336C;ENSP00000287727:G336C;ENSP00000360647:G336C	ENSP00000287727:G336C	G	+	1	0	ZFYVE9	52476683	0.979000	0.34478	0.973000	0.42090	0.991000	0.79684	1.007000	0.29860	2.471000	0.83476	0.563000	0.77884	GGT		0.468	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022083.1	NM_007324	
FLG	2312	broad.mit.edu	37	1	152275656	152275656	+	Silent	SNP	G	G	A	rs147335121		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:152275656G>A	ENST00000368799.1	-	3	11741	c.11706C>T	c.(11704-11706)ccC>ccT	p.P3902P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3902	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)			GAGAGGATCCGGGGTGTCTGG	0.517									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11704-11706)CCC>CCT		filaggrin		G		1,4405	2.1+/-5.4	0,1,2202	89.0	91.0	91.0		11706	-3.4	0.0	1	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		3902/4062	152275656	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:152275656G>A	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.11706C>T	1.37:g.152275656G>A							p.P3902P	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11742	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3902			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11706C>T	CCDS30860.1																																																																																				0.517	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG2	388698	broad.mit.edu	37	1	152329436	152329436	+	Nonsense_Mutation	SNP	G	G	A	rs200529004		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:152329436G>A	ENST00000388718.5	-	3	898	c.826C>T	c.(826-828)Cga>Tga	p.R276*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	276	Ser-rich.		R -> Q (in dbSNP:rs2282303).		establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCATGACTTCGCCTCCCACTG	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23159	0.0		0.0	False		,,,				2504	0.0					uc001ezw.3																			0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(826-828)CGA>TGA		filaggrin family member 2							167.0	150.0	156.0					1																	152329436		2203	4300	6503	SO:0001587	stop_gained	388698						calcium ion binding|structural molecule activity	g.chr1:152329436G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.826C>T	1.37:g.152329436G>A	ENSP00000373370:p.Arg276*					uc001ezv.2_Intron	p.R276*	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	899	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		276			Ser-rich.|Filaggrin 1.		Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	c.826C>T	CCDS30861.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.77	2.931360	0.52866	.	.	ENSG00000143520	ENST00000388718	.	.	.	5.9	2.86	0.33363	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-6.2395	10.1627	0.42862	0.0:0.2859:0.5801:0.134	.	.	.	.	X	276	.	ENSP00000373370:R276X	R	-	1	2	FLG2	150596060	0.021000	0.18746	0.350000	0.25708	0.017000	0.09413	0.550000	0.23345	1.477000	0.48234	0.650000	0.86243	CGA		0.448	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
PFDN2	5202	broad.mit.edu	37	1	161072146	161072146	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:161072146C>T	ENST00000368010.3	-	2	179	c.95G>A	c.(94-96)cGc>cAc	p.R32H	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	32				GFNRLR -> SFNAF (in Ref. 3; AAF36151). {ECO:0000305}.	'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	unfolded protein binding (GO:0051082)			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCCGAAGGCGGTTGAAGCC	0.527																																						uc001fxu.2																			0					0						c.(94-96)CGC>CAC		prefoldin subunit 2							80.0	71.0	74.0					1																	161072146		2203	4300	6503	SO:0001583	missense	5202				'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding	g.chr1:161072146C>T	AF165883	CCDS1217.1	1q23.3	2008-02-05	2006-02-24		ENSG00000143256	ENSG00000143256			8867	protein-coding gene	gene with protein product		613466	"""prefoldin 2"""			10051400	Standard	NM_012394		Approved		uc001fxu.3	Q9UHV9	OTTHUMG00000031481	ENST00000368010.3:c.95G>A	1.37:g.161072146C>T	ENSP00000356989:p.Arg32His						p.R32H	NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		2	145	-	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		32	GFNRLR -> SFNAF (in Ref. 3; AAF36151).				Q9P0P7|Q9UN05	Missense_Mutation	SNP	ENST00000368010.3	37	c.95G>A	CCDS1217.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557379	0.65425	.	.	ENSG00000143256	ENST00000368010	T	0.47869	0.83	4.85	4.85	0.62838	Prefoldin beta-like (1);Prefoldin (1);	0.048045	0.85682	D	0.000000	T	0.28830	0.0715	L	0.51914	1.62	0.80722	D	1	B	0.33477	0.413	B	0.26310	0.068	T	0.25047	-1.0143	10	0.51188	T	0.08	-8.2362	15.5138	0.75806	0.0:1.0:0.0:0.0	.	32	Q9UHV9	PFD2_HUMAN	H	32	ENSP00000356989:R32H	ENSP00000356989:R32H	R	-	2	0	PFDN2	159338770	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.079000	0.71291	2.526000	0.85167	0.462000	0.41574	CGC		0.527	PFDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077100.1	NM_012394	
HMCN1	83872	broad.mit.edu	37	1	186114957	186114957	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:186114957G>A	ENST00000271588.4	+	93	14739	c.14510G>A	c.(14509-14511)cGg>cAg	p.R4837Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4837Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4837	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAAGACTCGGAAGCGGCTG	0.552																																						uc001grq.1																			0				ovary(22)|skin(1)	23						c.(14509-14511)CGG>CAG		hemicentin 1 precursor							77.0	72.0	74.0					1																	186114957		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186114957G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14510G>A	1.37:g.186114957G>A	ENSP00000271588:p.Arg4837Gln					HMCN1_uc001grs.1_Missense_Mutation_p.R406Q	p.R4837Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			93	14739	+			4837			TSP type-1 6.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.14510G>A	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765413	0.90020	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.80738	-1.41;-1.41	5.59	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.80691	0.4671	M	0.87038	2.855	0.58432	D	0.999999	P	0.46621	0.881	B	0.34180	0.177	D	0.84522	0.0628	10	0.87932	D	0	.	14.4262	0.67218	0.0707:0.0:0.9293:0.0	.	4837	Q96RW7	HMCN1_HUMAN	Q	4837	ENSP00000271588:R4837Q;ENSP00000356462:R4837Q	ENSP00000271588:R4837Q	R	+	2	0	HMCN1	184381580	1.000000	0.71417	0.511000	0.27724	0.661000	0.39034	9.402000	0.97298	1.367000	0.46095	0.655000	0.94253	CGG		0.552	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
CACNA1S	779	broad.mit.edu	37	1	201047161	201047161	+	Missense_Mutation	SNP	G	G	A	rs9333651|rs138364213		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:201047161G>A	ENST00000362061.3	-	11	1691	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R489C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	489					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AAGTACTGGCGCAGGCCCAGC	0.582																																						uc001gvv.2																			0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1465-1467)CGC>TGC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	144.0	125.0	131.0		1465	4.8	1.0	1	dbSNP_134	131	2,8598	2.2+/-6.3	0,2,4298	no	missense	CACNA1S	NM_000069.2	180	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	probably-damaging	489/1874	201047161	3,13003	2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201047161G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.1465C>T	1.37:g.201047161G>A	ENSP00000355192:p.Arg489Cys						p.R489C	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			11	1692	-			489			II.|Cytoplasmic (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.1465C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677340	0.88445	2.27E-4	2.33E-4	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97791	-4.54;-4.54	4.78	4.78	0.61160	Ion transport (1);	0.220694	0.47093	D	0.000247	D	0.98369	0.9458	M	0.76938	2.355	0.51233	D	0.999917	D	0.65815	0.995	P	0.59761	0.863	D	0.99612	1.0981	10	0.87932	D	0	.	18.141	0.89639	0.0:0.0:1.0:0.0	.	489	Q13698	CAC1S_HUMAN	C	489	ENSP00000355192:R489C;ENSP00000356307:R489C	ENSP00000355192:R489C	R	-	1	0	CACNA1S	199313784	0.997000	0.39634	1.000000	0.80357	0.998000	0.95712	5.331000	0.65905	2.351000	0.79841	0.643000	0.83706	CGC		0.582	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	
USH2A	7399	broad.mit.edu	37	1	215853692	215853692	+	Silent	SNP	G	G	A	rs55921307	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:215853692G>A	ENST00000307340.3	-	62	12479	c.12093C>T	c.(12091-12093)taC>taT	p.Y4031Y	USH2A_ENST00000366943.2_Silent_p.Y4031Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4031	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTCTAACCCGTACAGGTGGG	0.388										HNSCC(13;0.011)			G|||	4	0.000798722	0.0	0.0029	5008	,	,		18504	0.0		0.002	False		,,,				2504	0.0					uc001hku.1																			0				ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(12091-12093)TAC>TAT		usherin isoform B		G		4,4402	8.1+/-20.4	0,4,2199	105.0	110.0	108.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	12093	-6.5	0.2	1	dbSNP_129	108	34,8566	22.8+/-68.1	0,34,4266	no	coding-synonymous	USH2A	NM_206933.2		0,38,6465	AA,AG,GG		0.3953,0.0908,0.2922		4031/5203	215853692	38,12968	2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215853692G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12093C>T	1.37:g.215853692G>A		HNSCC(13;0.011)					p.Y4031Y	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	62	12480	-			4031			Fibronectin type-III 25.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.12093C>T	CCDS31025.1																																																																																				0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
PTEN	5728	broad.mit.edu	37	10	89693009	89693009	+	Splice_Site	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr10:89693009G>T	ENST00000371953.3	+	5	1849		c.e5+1			NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.Y27fs*1(2)|p.K163_V166>NKGE(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACAAAAAGGTAAGTTATTT	0.348		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		48	Whole gene deletion(37)|Deletion - Frameshift(7)|Unknown(3)|Complex - compound substitution(1)	p.R55fs*1(4)|p.Y27fs*1(2)|p.?(2)|p.K163_V166>NKGE(1)	prostate(16)|central_nervous_system(10)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|thyroid(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CD020869	PTEN	D		c.e6+1		phosphatase and tensin homolog							47.0	49.0	48.0					10																	89693009		2203	4300	6503	SO:0001630	splice_region_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89693009G>T	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.492+1G>T	10.37:g.89693009G>T		HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.K164_splice	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1523	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)						B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	c.492_splice	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202455	0.79127	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.493	0.90854	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89682989	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.429000	0.97481	2.341000	0.79615	0.563000	0.77884	.		0.348	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	Intron
PIK3AP1	118788	broad.mit.edu	37	10	98411291	98411291	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr10:98411291G>A	ENST00000339364.5	-	5	949	c.830C>T	c.(829-831)gCg>gTg	p.A277V	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.A99V	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	277	DBB. {ECO:0000255|PROSITE- ProRule:PRU00707}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CACAGGATTCGCGGCATTGGA	0.398																																						uc001kmq.2																			0				upper_aerodigestive_tract(3)|ovary(1)|skin(1)	5						c.(829-831)GCG>GTG		phosphoinositide-3-kinase adaptor protein 1							97.0	95.0	96.0					10																	98411291		2203	4300	6503	SO:0001583	missense	118788					cytoplasm|plasma membrane		g.chr10:98411291G>A	AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.830C>T	10.37:g.98411291G>A	ENSP00000339826:p.Ala277Val					PIK3AP1_uc001kmp.2_Missense_Mutation_p.A99V	p.A277V	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)	5	958	-		Colorectal(252;0.0442)	277			DBB.		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	ENST00000339364.5	37	c.830C>T	CCDS31259.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345449	0.82022	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.19105	2.81;2.17	5.77	5.77	0.91146	DBB domain (1);	0.102760	0.64402	D	0.000003	T	0.26085	0.0636	L	0.50333	1.59	0.80722	D	1	D	0.55800	0.973	B	0.43950	0.437	T	0.00844	-1.1543	10	0.30854	T	0.27	-18.6805	18.9701	0.92711	0.0:0.0:1.0:0.0	.	277	Q6ZUJ8	BCAP_HUMAN	V	277;99	ENSP00000339826:A277V;ENSP00000360151:A99V	ENSP00000339826:A277V	A	-	2	0	PIK3AP1	98401281	0.992000	0.36948	0.991000	0.47740	0.851000	0.48451	4.335000	0.59298	2.737000	0.93849	0.561000	0.74099	GCG		0.398	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049619.2	NM_152309	
CNGA4	1262	broad.mit.edu	37	11	6261464	6261464	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:6261464C>T	ENST00000379936.2	+	4	555	c.440C>T	c.(439-441)gCg>gTg	p.A147V	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	147					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.A147V(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCCGCGCGCCCCGCCTC	0.587																																						uc001mco.2																			1	Substitution - Missense(1)		prostate(1)	skin(1)	1						c.(439-441)GCG>GTG		cyclic nucleotide gated channel alpha 4							79.0	86.0	84.0					11																	6261464		2201	4296	6497	SO:0001583	missense	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261464C>T	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.440C>T	11.37:g.6261464C>T	ENSP00000369268:p.Ala147Val					CNGA4_uc010raa.1_Intron|CNGA4_uc001mcn.2_Missense_Mutation_p.A107V	p.A147V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	547	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	147			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000379936.2	37	c.440C>T	CCDS31408.1	.	.	.	.	.	.	.	.	.	.	C	1.015	-0.686802	0.03328	.	.	ENSG00000132259	ENST00000379936	D	0.97404	-4.37	5.26	-5.43	0.02632	Ion transport (1);	0.589948	0.18900	N	0.128064	D	0.86760	0.6010	N	0.01668	-0.77	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.74450	-0.3661	10	0.22109	T	0.4	.	14.3643	0.66795	0.0:0.5734:0.0:0.4266	.	147;107	Q8IV77;Q8IV77-2	CNGA4_HUMAN;.	V	147	ENSP00000369268:A147V	ENSP00000369268:A147V	A	+	2	0	CNGA4	6218040	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-0.473000	0.06615	-1.108000	0.03000	-0.794000	0.03295	GCG		0.587	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329	
OR5D14	219436	broad.mit.edu	37	11	55563770	55563770	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:55563770C>A	ENST00000335605.1	+	1	739	c.739C>A	c.(739-741)Ctg>Atg	p.L247M		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GGCCTCCCACCTGACTTCTAT	0.453																																						uc010rim.1																			0				ovary(2)|central_nervous_system(1)	3						c.(739-741)CTG>ATG		olfactory receptor, family 5, subfamily D,							109.0	102.0	104.0					11																	55563770		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563770C>A	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.739C>A	11.37:g.55563770C>A	ENSP00000334456:p.Leu247Met						p.L247M	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	739	+		all_epithelial(135;0.196)	247			Helical; Name=6; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.739C>A	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	12.23	1.874888	0.33069	.	.	ENSG00000186113	ENST00000335605	T	0.50001	0.76	5.08	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34025	N	0.004322	T	0.61160	0.2325	M	0.85373	2.75	0.31330	N	0.684999	D	0.64830	0.994	P	0.59357	0.856	T	0.64313	-0.6437	10	0.46703	T	0.11	-11.1747	4.3249	0.11036	0.3202:0.5111:0.0:0.1687	.	247	Q8NGL3	OR5DE_HUMAN	M	247	ENSP00000334456:L247M	ENSP00000334456:L247M	L	+	1	2	OR5D14	55320346	0.462000	0.25791	0.999000	0.59377	0.429000	0.31625	0.358000	0.20216	0.538000	0.28769	0.643000	0.83706	CTG		0.453	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735	
DDI1	414301	broad.mit.edu	37	11	103908142	103908142	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:103908142C>G	ENST00000302259.3	+	1	835	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	198							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCAAGAGAGGCTTCGTCTCTA	0.522																																						uc001phr.2																			0				large_intestine(3)|upper_aerodigestive_tract(1)|pancreas(1)	5						c.(592-594)CTT>GTT		DDI1, DNA-damage inducible 1, homolog 1							64.0	70.0	68.0					11																	103908142		2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103908142C>G		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.592C>G	11.37:g.103908142C>G	ENSP00000302805:p.Leu198Val					PDGFD_uc001php.2_Intron|PDGFD_uc001phq.2_Intron	p.L198V	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	835	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	198					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.592C>G	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	C	4.929	0.172596	0.09391	.	.	ENSG00000170967	ENST00000302259	T	0.25414	1.8	5.02	-0.319	0.12725	.	0.232984	0.41938	D	0.000797	T	0.23492	0.0568	M	0.74881	2.28	0.23594	N	0.997332	B	0.12630	0.006	B	0.14023	0.01	T	0.19516	-1.0303	10	0.48119	T	0.1	-38.7328	5.1869	0.15189	0.5643:0.2664:0.0:0.1693	.	198	Q8WTU0	DDI1_HUMAN	V	198	ENSP00000302805:L198V	ENSP00000302805:L198V	L	+	1	0	DDI1	103413352	1.000000	0.71417	0.059000	0.19551	0.026000	0.11368	1.527000	0.35975	0.071000	0.16664	-0.169000	0.13324	CTT		0.522	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711	
OR8A1	390275	broad.mit.edu	37	11	124440263	124440263	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:124440263T>A	ENST00000284287.3	+	1	371	c.299T>A	c.(298-300)gTg>gAg	p.V100E		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	100					axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AAGATGCTGGTGAACTTTGTG	0.463																																						uc010san.1																			0				ovary(1)	1						c.(298-300)GTG>GAG		olfactory receptor, family 8, subfamily A,							184.0	167.0	173.0					11																	124440263		2201	4299	6500	SO:0001583	missense	390275				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124440263T>A	BK004495	CCDS31712.1	11q24.2	2012-08-09			ENSG00000196119	ENSG00000196119		"""GPCR / Class A : Olfactory receptors"""	8469	protein-coding gene	gene with protein product							Standard	NM_001005194		Approved	OST025	uc010san.2	Q8NGG7	OTTHUMG00000165923	ENST00000284287.3:c.299T>A	11.37:g.124440263T>A	ENSP00000284287:p.Val100Glu						p.V100E	NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)	1	299	+		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)	100			Helical; Name=2; (Potential).		Q6IEW7|Q96RC6	Missense_Mutation	SNP	ENST00000284287.3	37	c.299T>A	CCDS31712.1	.	.	.	.	.	.	.	.	.	.	T	15.90	2.968694	0.53614	.	.	ENSG00000196119	ENST00000284287	T	0.00008	9.62	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.568919	0.14494	N	0.316178	T	0.00109	0.0003	L	0.48218	1.51	0.30426	N	0.777688	B	0.17667	0.023	B	0.21151	0.033	T	0.03335	-1.1047	10	0.52906	T	0.07	.	10.1357	0.42706	0.0:0.0803:0.0:0.9197	.	100	Q8NGG7	OR8A1_HUMAN	E	100	ENSP00000284287:V100E	ENSP00000284287:V100E	V	+	2	0	OR8A1	123945473	0.000000	0.05858	1.000000	0.80357	0.969000	0.65631	-0.089000	0.11180	2.098000	0.63641	0.528000	0.53228	GTG		0.463	OR8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387062.1	NM_001005194	
ANKRD33	341405	broad.mit.edu	37	12	52284606	52284606	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:52284606C>A	ENST00000340970.4	+	5	872	c.501C>A	c.(499-501)agC>agA	p.S167R	ANKRD33_ENST00000538991.1_Missense_Mutation_p.S98R|ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000301190.6_Missense_Mutation_p.S292R			Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	167					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CTACCTTGAGCCTCCCCTTTG	0.667																																						uc001rzf.3																			0					0						c.(499-501)AGC>AGA		ankyrin repeat domain 33 isoform 1							32.0	28.0	29.0					12																	52284606		2203	4300	6503	SO:0001583	missense	341405							g.chr12:52284606C>A		CCDS8815.1, CCDS44892.1	12q13.13	2013-01-10	2005-01-07	2005-01-07		ENSG00000167612		"""Ankyrin repeat domain containing"""	13788	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 7"""	C12orf7		20026326	Standard	NM_182608		Approved	DKFZp686O1689, PANKY	uc001rzd.3	Q7Z3H0	OTTHUMG00000169506	ENST00000340970.4:c.501C>A	12.37:g.52284606C>A	ENSP00000344690:p.Ser167Arg					ANKRD33_uc001rzh.3_3'UTR|ANKRD33_uc001rzd.2_Missense_Mutation_p.S292R|ANKRD33_uc001rze.2_Missense_Mutation_p.S188R|ANKRD33_uc001rzg.3_Missense_Mutation_p.S94R|ANKRD33_uc001rzi.3_Missense_Mutation_p.S167R	p.S167R	NM_001130015	NP_001123487	Q7Z3H0	ANR33_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0969)	5	1080	+			167					Q0VAA7|Q5K619|Q5K621|Q5K622|Q5K623|Q5K624|Q6ZUN0	Missense_Mutation	SNP	ENST00000340970.4	37	c.501C>A	CCDS44892.1	.	.	.	.	.	.	.	.	.	.	C	6.695	0.496951	0.12762	.	.	ENSG00000167612	ENST00000301190;ENST00000538991;ENST00000340970	T;T;T	0.23754	2.05;1.89;2.36	4.7	-1.62	0.08372	.	0.910524	0.09437	N	0.802324	T	0.27765	0.0683	L	0.58101	1.795	0.09310	N	1	P;D;B	0.55172	0.868;0.97;0.037	B;P;B	0.48704	0.383;0.587;0.027	T	0.20174	-1.0283	10	0.37606	T	0.19	-6.9485	5.8093	0.18457	0.0:0.3462:0.1433:0.5105	.	167;98;292	Q7Z3H0;Q0VAA8;Q7Z3H0-2	ANR33_HUMAN;.;.	R	292;98;167	ENSP00000301190:S292R;ENSP00000443722:S98R;ENSP00000344690:S167R	ENSP00000301190:S292R	S	+	3	2	ANKRD33	50570873	0.000000	0.05858	0.002000	0.10522	0.217000	0.24651	-0.338000	0.07842	-0.432000	0.07297	-1.010000	0.02471	AGC		0.667	ANKRD33-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404515.1	NM_182608	
OR6C3	254786	broad.mit.edu	37	12	55726370	55726370	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:55726370C>A	ENST00000379667.1	+	1	886	c.886C>A	c.(886-888)Caa>Aaa	p.Q296K		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	296					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GCAAGTAAAACAAGCCTTCAA	0.338																																						uc010spj.1																			0				skin(1)	1						c.(886-888)CAA>AAA		olfactory receptor, family 6, subfamily C,							55.0	57.0	56.0					12																	55726370		2200	4299	6499	SO:0001583	missense	254786				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55726370C>A	AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.886C>A	12.37:g.55726370C>A	ENSP00000368989:p.Gln296Lys						p.Q296K	NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN			1	886	+			296			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000379667.1	37	c.886C>A	CCDS31819.1	.	.	.	.	.	.	.	.	.	.	C	10.23	1.291825	0.23564	.	.	ENSG00000205329	ENST00000379667	T	0.00235	8.48	5.13	3.26	0.37387	.	0.144833	0.31797	N	0.007041	T	0.00073	0.0002	N	0.04636	-0.2	0.09310	N	1	B	0.06786	0.001	B	0.12837	0.008	T	0.22836	-1.0205	10	0.45353	T	0.12	.	5.3079	0.15813	0.2881:0.5603:0.0:0.1516	.	296	Q9NZP0	OR6C3_HUMAN	K	296	ENSP00000368989:Q296K	ENSP00000368989:Q296K	Q	+	1	0	OR6C3	54012637	0.000000	0.05858	0.964000	0.40570	0.738000	0.42128	-0.402000	0.07223	0.818000	0.34468	0.650000	0.86243	CAA		0.338	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406309.1		
PTPRB	5787	broad.mit.edu	37	12	70933755	70933755	+	Missense_Mutation	SNP	C	C	T	rs139546127		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:70933755C>T	ENST00000261266.5	-	22	5017	c.4988G>A	c.(4987-4989)cGa>cAa	p.R1663Q	PTPRB_ENST00000538708.1_Missense_Mutation_p.R1573Q|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1573Q|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1793Q|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000334414.6_Missense_Mutation_p.R1881Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1573Q|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1663					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGATAATGGTCGATCCCTACG	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		19691	0.001		0.0	False		,,,				2504	0.0					uc001swb.3																			0				lung(2)|skin(1)	3						c.(4987-4989)CGA>CAA		protein tyrosine phosphatase, receptor type, B							88.0	83.0	85.0					12																	70933755		1898	4110	6008	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70933755C>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4988G>A	12.37:g.70933755C>T	ENSP00000261266:p.Arg1663Gln					PTPRB_uc010sto.1_Missense_Mutation_p.R1573Q|PTPRB_uc010stp.1_Missense_Mutation_p.R1573Q|PTPRB_uc001swc.3_Missense_Mutation_p.R1881Q|PTPRB_uc001swa.3_Missense_Mutation_p.R1793Q	p.R1663Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		22	5018	-	Renal(347;0.236)		1663			Cytoplasmic (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.4988G>A	CCDS44944.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	15.64	2.892721	0.52121	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.02812	4.17;4.17;4.15;4.23;4.17;4.22	5.42	4.53	0.55603	.	0.399680	0.26601	N	0.023461	T	0.06325	0.0163	L	0.51422	1.61	0.22342	N	0.999185	D;D;D;D;D	0.67145	0.978;0.978;0.996;0.979;0.992	P;P;P;B;P	0.53722	0.61;0.61;0.733;0.325;0.733	T	0.33828	-0.9853	10	0.17369	T	0.5	.	11.9642	0.53025	0.0:0.8555:0.0:0.1445	.	1573;1573;1881;1663;1793	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	Q	1881;1573;1793;1573;1573;1663	ENSP00000334928:R1881Q;ENSP00000393028:R1573Q;ENSP00000448058:R1793Q;ENSP00000438927:R1573Q;ENSP00000447302:R1573Q;ENSP00000261266:R1663Q	ENSP00000261266:R1663Q	R	-	2	0	PTPRB	69220022	1.000000	0.71417	0.236000	0.24074	0.970000	0.65996	3.944000	0.56629	1.288000	0.44600	0.462000	0.41574	CGA		0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1		
PTPRR	5801	broad.mit.edu	37	12	71286587	71286587	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:71286587G>A	ENST00000283228.2	-	2	681	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	77					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATCTGGTGGCGTTTGCTTACT	0.448																																						uc001swi.1																			0				skin(2)|ovary(1)	3						c.(229-231)CGC>TGC		protein tyrosine phosphatase, receptor type, R							242.0	242.0	242.0					12																	71286587		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71286587G>A	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.229C>T	12.37:g.71286587G>A	ENSP00000283228:p.Arg77Cys						p.R77C	NM_002849	NP_002840	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	2	645	-			77			Extracellular (Potential).		B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.229C>T	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	7.526	0.657646	0.14645	.	.	ENSG00000153233	ENST00000283228	T	0.03553	3.89	5.86	0.281	0.15687	.	2.014910	0.03203	U	0.175101	T	0.02304	0.0071	N	0.08118	0	0.24558	N	0.993987	B	0.32893	0.389	B	0.29942	0.109	T	0.37033	-0.9723	10	0.44086	T	0.13	0.2152	3.8481	0.08943	0.1156:0.1019:0.368:0.4145	.	77	Q15256	PTPRR_HUMAN	C	77	ENSP00000283228:R77C	ENSP00000283228:R77C	R	-	1	0	PTPRR	69572854	0.682000	0.27624	0.132000	0.22025	0.102000	0.19082	0.863000	0.27913	0.311000	0.23014	0.650000	0.86243	CGC		0.448	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849	
CFAP54	144535	broad.mit.edu	37	12	97073486	97073486	+	Missense_Mutation	SNP	G	G	A	rs367592020		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:97073486G>A	ENST00000524981.4	+	40	5695	c.5672G>A	c.(5671-5673)cGa>cAa	p.R1891Q				Q96N23	CL055_HUMAN		0																	AGATCAATCCGACACAGCAGA	0.453																																						uc001tet.1																			0				skin(6)|ovary(1)	7						c.(946-948)CGA>CAA		hypothetical protein LOC374467		G	GLN/ARG	0,4406		0,0,2203	162.0	155.0	157.0		5180	5.3	1.0	12		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	C12orf55	XM_001715090.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1727/1907	97073486	1,13005	2203	4300	6503	SO:0001583	missense	374467							g.chr12:97073486G>A																												ENST00000524981.4:c.5672G>A	12.37:g.97073486G>A	ENSP00000431759:p.Arg1891Gln						p.R316Q	NM_198520	NP_940922	Q6ZTY8	CL063_HUMAN			7	1025	+			316						Missense_Mutation	SNP	ENST00000524981.4	37	c.947G>A		.	.	.	.	.	.	.	.	.	.	G	11.70	1.715697	0.30413	0.0	1.16E-4	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	5.27	5.27	0.74061	.	0.274308	0.28635	N	0.014656	T	0.57710	0.2072	L	0.50333	1.59	0.31766	N	0.632707	D	0.89917	1.0	D	0.69479	0.964	T	0.60551	-0.7241	9	0.27785	T	0.31	-5.6225	10.4741	0.44655	0.1246:0.0:0.8754:0.0	.	316	Q6ZTY8	CL063_HUMAN	Q	1891;316	.	ENSP00000345466:R316Q	R	+	2	0	C12orf63	95597617	1.000000	0.71417	0.997000	0.53966	0.358000	0.29455	2.617000	0.46385	2.437000	0.82529	0.655000	0.94253	CGA		0.453	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000395046.4		
OASL	8638	broad.mit.edu	37	12	121465457	121465457	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:121465457C>G	ENST00000257570.5	-	4	1091	c.821G>C	c.(820-822)tGt>tCt	p.C274S	OASL_ENST00000339275.5_Intron	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	274					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|transferase activity (GO:0016740)			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGTAGATACAGATGACTTC	0.453																																					Colon(192;517 2041 31392 31913 39966)	uc001tzj.1																			0				skin(1)	1						c.(820-822)TGT>TCT		2'-5'-oligoadenylate synthetase-like isoform a							181.0	152.0	162.0					12																	121465457		2203	4300	6503	SO:0001583	missense	8638				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity	g.chr12:121465457C>G	AF063611	CCDS9211.1, CCDS9212.1, CCDS73536.1	12q24.2	2008-08-05			ENSG00000135114	ENSG00000135114			8090	protein-coding gene	gene with protein product		603281				10087211	Standard	NM_003733		Approved	TRIP14, p59OASL	uc001tzj.2	Q15646	OTTHUMG00000154981	ENST00000257570.5:c.821G>C	12.37:g.121465457C>G	ENSP00000257570:p.Cys274Ser					OASL_uc001tzk.1_Intron	p.C274S	NM_003733	NP_003724	Q15646	OASL_HUMAN			4	827	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		274					B2RAZ2|I1YDD2|O75686|Q17R95|Q9Y6K6|Q9Y6K7	Missense_Mutation	SNP	ENST00000257570.5	37	c.821G>C	CCDS9211.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.559252	0.65538	.	.	ENSG00000135114	ENST00000257570	T	0.45276	0.9	5.65	5.65	0.86999	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.000000	0.64402	D	0.000007	T	0.70675	0.3251	M	0.89601	3.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75528	-0.3286	10	0.72032	D	0.01	-0.0351	15.093	0.72211	0.0:1.0:0.0:0.0	.	274	Q15646	OASL_HUMAN	S	274	ENSP00000257570:C274S	ENSP00000257570:C274S	C	-	2	0	OASL	119949840	1.000000	0.71417	0.997000	0.53966	0.578000	0.36192	4.399000	0.59703	2.941000	0.99782	0.655000	0.94253	TGT		0.453	OASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337875.2	NM_003733	
EP400	57634	broad.mit.edu	37	12	132512816	132512816	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:132512816G>A	ENST00000333577.4	+	28	5581	c.5472G>A	c.(5470-5472)ctG>ctA	p.L1824L	EP400_ENST00000389562.2_Silent_p.L1787L|EP400_ENST00000389561.2_Silent_p.L1788L|EP400_ENST00000332482.4_Silent_p.L1751L|SNORA49_ENST00000386157.1_RNA|EP400_ENST00000330386.6_Silent_p.L1707L			Q96L91	EP400_HUMAN	E1A binding protein p400	1824					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGAGTCTCTGCAGGATGTTA	0.557																																						uc001ujn.2																			0				central_nervous_system(4)|ovary(3)|breast(3)|skin(2)	12						c.(5362-5364)CTG>CTA		E1A binding protein p400							180.0	155.0	163.0					12																	132512816		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132512816G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5472G>A	12.37:g.132512816G>A						EP400_uc001ujl.2_Silent_p.L1787L|EP400_uc001ujm.2_Silent_p.L1707L	p.L1788L	NM_015409	NP_056224	Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	26	5399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	1824					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.5364G>A																																																																																					0.557	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
KCNK10	54207	broad.mit.edu	37	14	88652226	88652226	+	Missense_Mutation	SNP	G	G	A	rs373732858		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr14:88652226G>A	ENST00000340700.5	-	7	1721	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	KCNK10_ENST00000319231.5_Missense_Mutation_p.R429C|KCNK10_ENST00000312350.5_Missense_Mutation_p.R429C	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	424					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTTCAGGCGCAGGTTGTTG	0.607																																						uc001xwo.2																			0				ovary(2)|skin(2)|pancreas(1)	5						c.(1270-1272)CGC>TGC		potassium channel, subfamily K, member 10		G	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	66.0	69.0	68.0		1270,1285,1285	5.7	1.0	14		68	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	KCNK10	NM_021161.4,NM_138317.2,NM_138318.2	180,180,180	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	424/539,429/544,429/544	88652226	2,13004	2203	4300	6503	SO:0001583	missense	54207				signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:88652226G>A	AF279890	CCDS9880.1, CCDS9881.1, CCDS9882.1	14q31	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6273	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 97"""	605873				10880510, 16382106	Standard	NM_021161		Approved	K2p10.1, TREK-2, TREK2, PPP1R97	uc001xwn.3	P57789		ENST00000340700.5:c.1270C>T	14.37:g.88652226G>A	ENSP00000343104:p.Arg424Cys					KCNK10_uc001xwm.2_Missense_Mutation_p.R429C|KCNK10_uc001xwn.2_Missense_Mutation_p.R429C	p.R424C	NM_021161	NP_066984	P57789	KCNKA_HUMAN			7	1727	-			424			Cytoplasmic (Potential).		B2R8T4|B2RCT3|B5TJL4|Q6B014|Q8TDK7|Q8TDK8|Q9HB59	Missense_Mutation	SNP	ENST00000340700.5	37	c.1270C>T	CCDS9880.1	.	.	.	.	.	.	.	.	.	.	G	16.38	3.106321	0.56291	0.0	2.33E-4	ENSG00000100433	ENST00000340700;ENST00000312350;ENST00000319231	D;D;D	0.92965	-3.13;-3.13;-3.14	5.71	5.71	0.89125	.	0.225317	0.42294	D	0.000726	D	0.92443	0.7601	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	P;P;P	0.60609	0.828;0.818;0.877	D	0.91415	0.5154	10	0.39692	T	0.17	.	13.7785	0.63069	0.0:0.0:0.8468:0.1532	.	424;429;429	P57789;B2R8T4;Q6B014	KCNKA_HUMAN;.;.	C	424;429;429	ENSP00000343104:R424C;ENSP00000310568:R429C;ENSP00000312811:R429C	ENSP00000310568:R429C	R	-	1	0	KCNK10	87721979	1.000000	0.71417	1.000000	0.80357	0.486000	0.33341	5.823000	0.69272	2.709000	0.92574	0.655000	0.94253	CGC		0.607	KCNK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410167.1	NM_021161	
FAN1	22909	broad.mit.edu	37	15	31197005	31197005	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr15:31197005T>C	ENST00000362065.4	+	2	430	c.139T>C	c.(139-141)Tgc>Cgc	p.C47R	FAN1_ENST00000561594.1_Missense_Mutation_p.C47R|FAN1_ENST00000565466.1_Missense_Mutation_p.C47R|FAN1_ENST00000561607.1_Missense_Mutation_p.C47R	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	47					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTGCCCCGTTTGCAGTAAAAT	0.403								Direct reversal of damage																														uc001zff.2																			0					0						c.(139-141)TGC>CGC	Direct_reversal_of_damage|Editing_and_processing_nucleases	myotubularin related protein 15 isoform a							74.0	75.0	75.0					15																	31197005		2202	4300	6502	SO:0001583	missense	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31197005T>C		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.139T>C	15.37:g.31197005T>C	ENSP00000354497:p.Cys47Arg					MTMR15_uc001zfc.3_Missense_Mutation_p.C47R|MTMR15_uc010azw.2_Missense_Mutation_p.C47R|MTMR15_uc001zfd.3_Missense_Mutation_p.C47R|MTMR15_uc001zfe.2_5'UTR	p.C47R	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN		all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168)	2	430	+		all_lung(180;2.23e-09)	47	C->A: Abolishes interaction with monoubiquitinated FANCD2; when associated with A-44.		UBZ-type.		A8K4M2|Q86WU8	Missense_Mutation	SNP	ENST00000362065.4	37	c.139T>C	CCDS32186.1	.	.	.	.	.	.	.	.	.	.	t	19.64	3.865984	0.71949	.	.	ENSG00000198690	ENST00000362065	D	0.96651	-4.08	5.01	5.01	0.66863	Zinc finger, Rad18-type putative (1);	0.000000	0.85682	D	0.000000	D	0.97695	0.9244	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.98588	1.0653	10	0.87932	D	0	-17.7957	15.0172	0.71594	0.0:0.0:0.0:1.0	.	47;47	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	R	47	ENSP00000354497:C47R	ENSP00000354497:C47R	C	+	1	0	FAN1	28984297	1.000000	0.71417	0.090000	0.20809	0.904000	0.53231	7.168000	0.77570	2.007000	0.58848	0.374000	0.22700	TGC		0.403	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967	
AXIN1	8312	broad.mit.edu	37	16	339599	339599	+	Nonsense_Mutation	SNP	G	G	T	rs138816818		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:339599G>T	ENST00000262320.3	-	10	2674	c.2303C>A	c.(2302-2304)tCg>tAg	p.S768*	AXIN1_ENST00000354866.3_Nonsense_Mutation_p.S732*	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	768	Interaction with PPP2CA.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTTCCTCTGCGATCTTGTCCT	0.637																																						uc002cgp.1																			0				breast(1)|liver(1)	2						c.(2302-2304)TCG>TAG		axin 1 isoform a							43.0	41.0	42.0					16																	339599		2198	4299	6497	SO:0001587	stop_gained	8312				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	g.chr16:339599G>T	AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.2303C>A	16.37:g.339599G>T	ENSP00000262320:p.Ser768*					AXIN1_uc002cgq.1_Nonsense_Mutation_p.S732*	p.S768*	NM_003502	NP_003493	O15169	AXIN1_HUMAN			10	2480	-		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)	768			Interaction with PPP2CA.		Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Nonsense_Mutation	SNP	ENST00000262320.3	37	c.2303C>A	CCDS10405.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.68|13.68	2.309069|2.309069	0.40895|0.40895	.|.	.|.	ENSG00000103126|ENSG00000103126	ENST00000457798|ENST00000262320;ENST00000354866	.|.	.|.	.|.	4.44|4.44	3.36|3.36	0.38483|0.38483	.|.	.|0.847287	.|0.09926	.|N	.|0.737793	T|.	0.21468|.	0.0517|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.12400|.	-1.0549|.	3|.	.|0.06099	.|T	.|0.92	-6.3294|-6.3294	9.9193|9.9193	0.41455|0.41455	0.1476:0.0:0.8524:0.0|0.1476:0.0:0.8524:0.0	.|.	.|.	.|.	.|.	S|X	20|768;732	.|.	.|ENSP00000262320:S768X	R|S	-|-	1|2	0|0	AXIN1|AXIN1	279600|279600	0.875000|0.875000	0.30112|0.30112	0.004000|0.004000	0.12327|0.12327	0.003000|0.003000	0.03518|0.03518	2.639000|2.639000	0.46570|0.46570	2.042000|2.042000	0.60477|0.60477	0.313000|0.313000	0.20887|0.20887	CGC|TCG		0.637	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139441.3		
ATF7IP2	80063	broad.mit.edu	37	16	10534246	10534246	+	Missense_Mutation	SNP	G	G	A	rs141687995		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:10534246G>A	ENST00000396560.2	+	6	1348	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R374H|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R374H|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R374H|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	374					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				large_intestine(3)	3						CTTCAAAGACGTATTAAAACA	0.289																																						uc002czu.2																			0					0						c.(1120-1122)CGT>CAT		activating transcription factor 7 interacting		G	HIS/ARG	0,4380		0,0,2190	37.0	40.0	39.0		1121	4.4	1.0	16	dbSNP_134	39	1,8579	1.2+/-3.3	0,1,4289	no	missense	ATF7IP2	NM_024997.2	29	0,1,6479	AA,AG,GG		0.0117,0.0,0.0077	probably-damaging	374/683	10534246	1,12959	2190	4290	6480	SO:0001583	missense	80063				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr16:10534246G>A	AK022730	CCDS10540.1, CCDS58422.1	16p13.2	2008-02-05			ENSG00000166669	ENSG00000166669			20397	protein-coding gene	gene with protein product		613645					Standard	NM_001256160		Approved	FLJ12668	uc002czu.3	Q5U623	OTTHUMG00000129749	ENST00000396560.2:c.1121G>A	16.37:g.10534246G>A	ENSP00000379808:p.Arg374His					ATF7IP2_uc002czv.2_Missense_Mutation_p.R374H|ATF7IP2_uc010uyo.1_RNA|ATF7IP2_uc010uyp.1_Intron|ATF7IP2_uc002czw.2_Missense_Mutation_p.R374H|ATF7IP2_uc010uyq.1_RNA	p.R374H	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN			6	1348	+			374			Potential.		B2RNR2|Q53EZ7|Q658U2|Q6IS97|Q8N9X8|Q9H9L6	Missense_Mutation	SNP	ENST00000396560.2	37	c.1121G>A	CCDS10540.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430823	0.43122	0.0	1.17E-4	ENSG00000166669	ENST00000396559;ENST00000396560;ENST00000535850;ENST00000356427;ENST00000324570	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	4.42	4.42	0.53409	.	0.000000	0.50627	D	0.000118	T	0.59238	0.2179	L	0.59436	1.845	0.39149	D	0.962188	D;P	0.89917	1.0;0.789	D;B	0.87578	0.998;0.08	T	0.65207	-0.6224	10	0.87932	D	0	-0.0287	12.859	0.57903	0.0:0.0:1.0:0.0	.	374;374	Q5U623-2;Q5U623	.;MCAF2_HUMAN	H	374	ENSP00000379807:R374H;ENSP00000379808:R374H;ENSP00000440791:R374H;ENSP00000348799:R374H;ENSP00000322811:R374H	ENSP00000322811:R374H	R	+	2	0	ATF7IP2	10441747	1.000000	0.71417	0.996000	0.52242	0.677000	0.39632	2.211000	0.42825	2.161000	0.67846	0.591000	0.81541	CGT		0.289	ATF7IP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251961.1	NM_024997	
ACSM5	54988	broad.mit.edu	37	16	20442617	20442617	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:20442617C>T	ENST00000331849.4	+	10	1429	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	428					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACCCACTCGGCCCTTCTGTTT	0.488																																						uc002dhe.2																			0				ovary(2)	2						c.(1282-1284)CCC>TCC		acyl-CoA synthetase medium-chain family member 5							164.0	140.0	148.0					16																	20442617		2203	4300	6503	SO:0001583	missense	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20442617C>T		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1282C>T	16.37:g.20442617C>T	ENSP00000327916:p.Pro428Ser						p.P428S	NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN			10	1429	+			428					Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	ENST00000331849.4	37	c.1282C>T	CCDS10585.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.452354	0.84209	.	.	ENSG00000183549	ENST00000331849	T	0.50813	0.73	4.37	4.37	0.52481	AMP-dependent synthetase/ligase (1);	0.000000	0.52532	D	0.000068	T	0.63861	0.2547	L	0.55990	1.75	0.47476	D	0.999431	D	0.67145	0.996	D	0.74674	0.984	T	0.68454	-0.5404	10	0.87932	D	0	-16.2449	16.0686	0.80907	0.0:1.0:0.0:0.0	.	428	Q6NUN0	ACSM5_HUMAN	S	428	ENSP00000327916:P428S	ENSP00000327916:P428S	P	+	1	0	ACSM5	20350118	1.000000	0.71417	0.924000	0.36721	0.984000	0.73092	5.853000	0.69496	2.119000	0.64992	0.650000	0.86243	CCC		0.488	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	NM_017888	
ITGAM	3684	broad.mit.edu	37	16	31308873	31308873	+	Silent	SNP	C	C	T	rs377110507		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:31308873C>T	ENST00000287497.8	+	13	1470	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D	ITGAM_ENST00000544665.3_Silent_p.D465D			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	465					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						GCTCCGTGGACGTGGACAGCA	0.627																																						uc002ebq.2																			0				kidney(1)	1						c.(1393-1395)GAC>GAT		integrin alpha M isoform 2 precursor		C	,	0,4384		0,0,2192	108.0	118.0	115.0		1395,1395	-5.2	0.0	16		115	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous,coding-synonymous	ITGAM	NM_000632.3,NM_001145808.1	,	0,1,6489	TT,TC,CC		0.0116,0.0,0.0077	,	465/1153,465/1154	31308873	1,12979	2192	4298	6490	SO:0001819	synonymous_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308873C>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.1395C>T	16.37:g.31308873C>T						ITGAM_uc002ebr.2_Silent_p.D465D|ITGAM_uc010cam.1_Missense_Mutation_p.R69C|ITGAM_uc010can.2_Translation_Start_Site	p.D465D	NM_000632	NP_000623	P11215	ITAM_HUMAN			13	1493	+			465			FG-GAP 5.|Extracellular (Potential).|Potential.		Q4VAK0|Q4VAK1|Q4VAK2	Silent	SNP	ENST00000287497.8	37	c.1395C>T	CCDS45470.1																																																																																				0.627	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632	
ZFHX3	463	broad.mit.edu	37	16	72821854	72821854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:72821854C>A	ENST00000268489.5	-	10	10993	c.10321G>T	c.(10321-10323)Gag>Tag	p.E3441*	RP5-991G20.1_ENST00000563328.2_RNA|ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E2527*|RP5-991G20.4_ENST00000569195.1_RNA|AC004943.1_ENST00000584072.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3441					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTTCTGGCTCTTCAGGGAGT	0.557																																						uc002fck.2																			0				ovary(2)|skin(2)	4						c.(10321-10323)GAG>TAG		zinc finger homeobox 3 isoform A							77.0	83.0	81.0					16																	72821854		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821854C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10321G>T	16.37:g.72821854C>A	ENSP00000268489:p.Glu3441*					ZFHX3_uc002fcl.2_Nonsense_Mutation_p.E2527*	p.E3441*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN			10	10994	-		Ovarian(137;0.13)	3441					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.10321G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	54	21.768745	0.99943	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	4.3	4.3	0.51218	.	0.000000	0.48767	D	0.000176	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.9607	0.58455	0.0:0.8371:0.1629:0.0	.	.	.	.	X	3441;2527	.	ENSP00000268489:E3441X	E	-	1	0	ZFHX3	71379355	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.988000	0.40697	2.115000	0.64714	0.557000	0.71058	GAG		0.557	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
PRDM7	11105	broad.mit.edu	37	16	90160884	90160884	+	5'Flank	SNP	G	G	A	rs541602814		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:90160884G>A	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCCCCCACCGCCCTCCTGGG	0.731													.|||	1	0.000199681	0.0	0.0	5008	,	,		9150	0.001		0.0	False		,,,				2504	0.0					uc002fqp.2																			0											c.(355-357)CCG>CCA		Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																																				SO:0001631	upstream_gene_variant	0							g.chr16:90160884G>A	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160884G>A	Exception_encountered					uc002fqq.2_Intron	p.P119P							2	835	+								A4Q9G8|Q08EM4|Q9NQW4	Silent	SNP	ENST00000569206.1	37	c.357G>A																																																																																					0.731	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1		
MYH1	4619	broad.mit.edu	37	17	10399320	10399320	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:10399320C>T	ENST00000226207.5	-	35	5210	c.5116G>A	c.(5116-5118)Gca>Aca	p.A1706T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1706					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTGTTCTGCGATTTTCCTG	0.532																																						uc002gmo.2																			0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(5116-5118)GCA>ACA		myosin, heavy chain 1, skeletal muscle, adult							101.0	92.0	95.0					17																	10399320		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399320C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5116G>A	17.37:g.10399320C>T	ENSP00000226207:p.Ala1706Thr					uc002gml.1_Intron	p.A1706T	NM_005963	NP_005954	P12882	MYH1_HUMAN			35	5210	-			1706			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.5116G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.930019	0.92389	.	.	ENSG00000109061	ENST00000226207	D	0.83837	-1.77	5.53	5.53	0.82687	Myosin tail (1);	0.000000	0.42964	U	0.000639	D	0.89167	0.6638	M	0.93594	3.435	0.58432	D	0.999999	P	0.47910	0.902	B	0.42827	0.399	D	0.91784	0.5438	10	0.66056	D	0.02	.	19.8241	0.96610	0.0:1.0:0.0:0.0	.	1706	P12882	MYH1_HUMAN	T	1706	ENSP00000226207:A1706T	ENSP00000226207:A1706T	A	-	1	0	MYH1	10340045	1.000000	0.71417	0.961000	0.40146	0.980000	0.70556	7.643000	0.83403	2.758000	0.94735	0.655000	0.94253	GCA		0.532	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	
MYH2	4620	broad.mit.edu	37	17	10427956	10427956	+	Missense_Mutation	SNP	G	G	A	rs569489518		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:10427956G>A	ENST00000245503.5	-	35	5386	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W	MYH2_ENST00000397183.2_Missense_Mutation_p.R1668W|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1668					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTGGCTCCGGAGAGCATCA	0.572													g|||	1	0.000199681	0.0	0.0	5008	,	,		19739	0.0		0.001	False		,,,				2504	0.0					uc010coi.2																			0				ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1)	14						c.(5002-5004)CGG>TGG		myosin heavy chain IIa							92.0	82.0	85.0					17																	10427956		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10427956G>A		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.5002C>T	17.37:g.10427956G>A	ENSP00000245503:p.Arg1668Trp					uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.R1668W|MYH2_uc010coj.2_Intron	p.R1668W	NM_001100112	NP_001093582	Q9UKX2	MYH2_HUMAN			35	5130	-			1668			Potential.		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.5002C>T	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.472724	0.43942	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.82526	-1.62;-1.62	5.31	5.31	0.75309	Myosin tail (1);	0.000000	0.37483	U	0.002071	D	0.93933	0.8058	H	0.97415	4	0.49483	D	0.999795	D	0.76494	0.999	D	0.76575	0.988	D	0.95210	0.8324	10	0.87932	D	0	.	13.282	0.60222	0.0:0.0:0.7467:0.2533	.	1668	Q9UKX2	MYH2_HUMAN	W	1668	ENSP00000245503:R1668W;ENSP00000380367:R1668W	ENSP00000245503:R1668W	R	-	1	2	MYH2	10368681	0.181000	0.23161	1.000000	0.80357	0.402000	0.30811	0.546000	0.23284	2.755000	0.94549	0.491000	0.48974	CGG		0.572	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534	
ACACA	31	broad.mit.edu	37	17	35615262	35615262	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:35615262C>G	ENST00000394406.2	-	13	1613	c.1423G>C	c.(1423-1425)Gat>Cat	p.D475H	ACACA_ENST00000353139.5_Missense_Mutation_p.D512H|ACACA_ENST00000360679.3_Missense_Mutation_p.D417H|ACACA_ENST00000335166.5_Missense_Mutation_p.D397H	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	475	Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATACGGATATCCTTGATTCTA	0.413																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.2																			0				large_intestine(1)|ovary(1)	2						c.(1423-1425)GAT>CAT		acetyl-Coenzyme A carboxylase alpha isoform 2	Biotin(DB00121)						78.0	76.0	77.0					17																	35615262		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35615262C>G	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.1423G>C	17.37:g.35615262C>G	ENSP00000377928:p.Asp475His					ACACA_uc002hnk.2_Missense_Mutation_p.D397H|ACACA_uc002hnl.2_Missense_Mutation_p.D417H|ACACA_uc002hnn.2_Missense_Mutation_p.D475H|ACACA_uc002hno.2_Missense_Mutation_p.D512H|ACACA_uc010cuz.2_Missense_Mutation_p.D475H	p.D475H	NM_198836	NP_942133	Q13085	ACACA_HUMAN			13	1614	-		Breast(25;0.00157)|Ovarian(249;0.15)	475			Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1423G>C	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	31	5.093702	0.94149	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-4.53	5.93	5.93	0.95920	ATP-grasp fold, subdomain 2 (1);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.98689	0.9560	M	0.79475	2.455	0.80722	D	1	D;D;D	0.89917	1.0;0.977;0.986	D;P;P	0.85130	0.997;0.65;0.856	D	0.99116	1.0848	10	0.54805	T	0.06	-20.5518	19.3421	0.94347	0.0:1.0:0.0:0.0	.	512;475;417	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	H	512;417;475;499;397	ENSP00000344789:D512H;ENSP00000353898:D417H;ENSP00000377928:D475H;ENSP00000335323:D397H	ENSP00000335323:D397H	D	-	1	0	ACACA	32689375	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAT		0.413	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
MKS1	54903	broad.mit.edu	37	17	56294074	56294074	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:56294074C>T	ENST00000393119.2	-	3	288	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	MKS1_ENST00000537529.2_Missense_Mutation_p.E62K|MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000313863.6_Missense_Mutation_p.E72K|LPO_ENST00000582328.1_5'Flank|MKS1_ENST00000337050.7_Missense_Mutation_p.E72K	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	72					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCTCCTCTTCGTCTTCCTCT	0.483																																						uc002ivr.1																			0				ovary(1)	1						c.(214-216)GAA>AAA		Meckel syndrome type 1 protein isoform 1							138.0	143.0	141.0					17																	56294074		1977	4152	6129	SO:0001583	missense	54903				cilium assembly	centrosome|cilium|microtubule basal body	protein binding	g.chr17:56294074C>T	DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.214G>A	17.37:g.56294074C>T	ENSP00000376827:p.Glu72Lys					MKS1_uc010wnq.1_5'UTR|MKS1_uc002ivs.1_Missense_Mutation_p.E72K	p.E72K	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN			3	289	-			72					B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	ENST00000393119.2	37	c.214G>A	CCDS11603.2	.	.	.	.	.	.	.	.	.	.	C	16.36	3.100415	0.56183	.	.	ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050	T;T;T;T	0.65732	-0.17;1.41;-0.17;-0.17	5.41	5.41	0.78517	.	0.155915	0.42172	U	0.000754	T	0.47637	0.1456	L	0.41824	1.3	0.80722	D	1	P;P	0.45428	0.72;0.858	B;B	0.30179	0.112;0.07	T	0.54443	-0.8293	10	0.45353	T	0.12	-20.4755	14.5656	0.68173	0.0:1.0:0.0:0.0	.	72;72	A8MPP8;Q9NXB0	.;MKS1_HUMAN	K	62;72;72;72	ENSP00000442096:E62K;ENSP00000376828:E72K;ENSP00000376827:E72K;ENSP00000338407:E72K	ENSP00000338407:E72K	E	-	1	0	MKS1	53649073	0.846000	0.29590	1.000000	0.80357	0.990000	0.78478	1.175000	0.31944	2.824000	0.97209	0.643000	0.83706	GAA		0.483	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258015.2	NM_017777	
CDR2L	30850	broad.mit.edu	37	17	73000053	73000053	+	Missense_Mutation	SNP	C	C	T	rs144796205	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:73000053C>T	ENST00000337231.5	+	5	1694	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	428												all_lung(278;0.226)					CGTGGACAAGCGGCTGGAACA	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		16049	0.0		0.002	False		,,,				2504	0.0					uc002jml.3																			0					0						c.(1282-1284)CGG>TGG		cerebellar degeneration-related protein 2-like		C	TRP/ARG	1,4405		0,1,2202	28.0	25.0	26.0		1282	4.0	1.0	17	dbSNP_134	26	11,8587		0,11,4288	yes	missense	CDR2L	NM_014603.2	101	0,12,6490	TT,TC,CC		0.1279,0.0227,0.0923	probably-damaging	428/466	73000053	12,12992	2203	4299	6502	SO:0001583	missense	30850							g.chr17:73000053C>T		CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"""paraneoplastic antigen"""						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.1282C>T	17.37:g.73000053C>T	ENSP00000336587:p.Arg428Trp						p.R428W	NM_014603	NP_055418	Q86X02	CDR2L_HUMAN			5	1694	+	all_lung(278;0.226)		428					B4DFA7|Q15175	Missense_Mutation	SNP	ENST00000337231.5	37	c.1282C>T	CCDS11710.2	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	C	18.45	3.626313	0.66901	2.27E-4	0.001279	ENSG00000109089	ENST00000337231	T	0.47869	0.83	5.02	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.66538	0.2799	M	0.75447	2.3	0.46654	D	0.999146	D	0.89917	1.0	D	0.87578	0.998	T	0.69907	-0.5018	10	0.72032	D	0.01	-30.1482	12.828	0.57731	0.3703:0.6297:0.0:0.0	.	428	Q86X02	CDR2L_HUMAN	W	428	ENSP00000336587:R428W	ENSP00000336587:R428W	R	+	1	2	CDR2L	70511648	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.632000	0.37102	2.604000	0.88044	0.563000	0.77884	CGG		0.612	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318080.1	NM_014603	
ITGB4	3691	broad.mit.edu	37	17	73725429	73725429	+	Missense_Mutation	SNP	G	G	A	rs144968507		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:73725429G>A	ENST00000200181.3	+	7	837	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	ITGB4_ENST00000450894.3_Missense_Mutation_p.R217Q|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Missense_Mutation_p.R217Q|ITGB4_ENST00000579662.1_Missense_Mutation_p.R217Q|ITGB4_ENST00000449880.2_Missense_Mutation_p.R217Q	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	217	VWFA.				amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GATGAGTTCCGGAATAAACTG	0.602																																						uc002jpg.2																			0				lung(4)	4						c.(649-651)CGG>CAG		integrin beta 4 isoform 1 precursor		G	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	101.0	90.0	94.0		650,650,650	4.6	1.0	17	dbSNP_134	94	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	ITGB4	NM_000213.3,NM_001005619.1,NM_001005731.1	43,43,43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging	217/1823,217/1806,217/1753	73725429	2,13004	2203	4300	6503	SO:0001583	missense	3691				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	g.chr17:73725429G>A		CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.650G>A	17.37:g.73725429G>A	ENSP00000200181:p.Arg217Gln					ITGB4_uc002jph.2_Missense_Mutation_p.R217Q|ITGB4_uc010dgo.2_Missense_Mutation_p.R217Q|ITGB4_uc002jpi.3_Missense_Mutation_p.R217Q|ITGB4_uc010dgp.1_Missense_Mutation_p.R217Q|ITGB4_uc002jpj.2_Missense_Mutation_p.R217Q|ITGB4_uc010wsh.1_5'Flank	p.R217Q	NM_000213	NP_000204	P16144	ITB4_HUMAN	all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)		7	837	+	all_cancers(13;1.5e-07)		217			VWFA.|Extracellular (Potential).		A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	c.650G>A	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.992943	0.35131	0.0	2.33E-4	ENSG00000132470	ENST00000450894;ENST00000200181;ENST00000339591;ENST00000449880	D;D;D	0.92348	-3.02;-3.02;-3.02	5.58	4.55	0.56014	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.609682	0.15938	N	0.237358	D	0.88183	0.6368	N	0.26092	0.79	0.30139	N	0.804112	B;P;P;P	0.48162	0.227;0.752;0.792;0.906	B;B;B;P	0.44696	0.065;0.328;0.377;0.458	D	0.85043	0.0924	10	0.35671	T	0.21	.	15.2441	0.73493	0.0:0.0:0.8589:0.1411	.	217;217;217;217	P16144-5;P16144-3;A0AVL6;P16144	.;.;.;ITB4_HUMAN	Q	133;217;217;217	ENSP00000200181:R217Q;ENSP00000344079:R217Q;ENSP00000400217:R217Q	ENSP00000200181:R217Q	R	+	2	0	ITGB4	71237024	0.883000	0.30277	0.957000	0.39632	0.612000	0.37316	1.436000	0.34980	2.626000	0.88956	0.655000	0.94253	CGG		0.602	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		
ROCK1	6093	broad.mit.edu	37	18	18547745	18547745	+	Nonsense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:18547745T>A	ENST00000399799.2	-	26	4100	c.3160A>T	c.(3160-3162)Aaa>Taa	p.K1054*		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1054					actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCTGATGTTTCACTACCATC	0.353																																						uc002kte.2																			0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(3160-3162)AAA>TAA		Rho-associated, coiled-coil containing protein							243.0	239.0	241.0					18																	18547745		2203	4300	6503	SO:0001587	stop_gained	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18547745T>A		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3160A>T	18.37:g.18547745T>A	ENSP00000382697:p.Lys1054*						p.K1054*	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			26	4101	-	Melanoma(1;0.165)		1054			Potential.		B0YJ91|Q2KHM4|Q59GZ4	Nonsense_Mutation	SNP	ENST00000399799.2	37	c.3160A>T	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	49	15.615751	0.99839	.	.	ENSG00000067900	ENST00000399799	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.2476	0.73517	0.0:0.0:0.0:1.0	.	.	.	.	X	1054	.	ENSP00000382697:K1054X	K	-	1	0	ROCK1	16801743	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	1.996000	0.58369	0.477000	0.44152	AAA		0.353	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406	
CTAGE1	64693	broad.mit.edu	37	18	19996798	19996798	+	5'Flank	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:19996798T>A	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_Missense_Mutation_p.N326I			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGTCTGAAGATTTTTAATATG	0.308																																						uc002ktv.1																			0				ovary(1)	1						c.(976-978)AAT>ATT		cutaneous T-cell lymphoma-associated antigen 1							33.0	38.0	36.0					18																	19996798		2131	4260	6391	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19996798T>A	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19996798T>A	Exception_encountered						p.N326I	NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN			1	1081	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)		326			Potential.		B0YIZ3	Missense_Mutation	SNP	ENST00000525417.1	37	c.977A>T		.	.	.	.	.	.	.	.	.	.	T	12.08	1.831044	0.32329	.	.	ENSG00000212710	ENST00000391403	T	0.76709	-1.04	0.741	0.741	0.18336	.	.	.	.	.	T	0.72011	0.3408	M	0.79475	2.455	0.09310	N	1	P	0.40909	0.732	B	0.37451	0.25	T	0.63594	-0.6602	8	.	.	.	.	3.7843	0.08694	0.0:0.0:0.0:1.0	.	326	Q96RT6	CTGE2_HUMAN	I	326	ENSP00000375220:N326I	.	N	-	2	0	CTAGE1	18250796	0.987000	0.35691	0.025000	0.17156	0.259000	0.26198	0.648000	0.24828	0.560000	0.29169	0.369000	0.22263	AAT		0.308	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241	
DSC2	1824	broad.mit.edu	37	18	28673541	28673541	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:28673541G>A	ENST00000280904.6	-	2	578	c.135C>T	c.(133-135)gcC>gcT	p.A45A	DSC2_ENST00000251081.6_Silent_p.A45A	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	45					bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell-cardiac muscle cell adhesion (GO:0086042)|cell adhesion (GO:0007155)|cellular response to starvation (GO:0009267)|homophilic cell adhesion (GO:0007156)|regulation of heart rate by cardiac conduction (GO:0086091)|ventricular cardiac muscle cell action potential (GO:0086005)	cell-cell adherens junction (GO:0005913)|cytoplasmic vesicle (GO:0031410)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAAGTTTCTCGGCATCTAGTT	0.338																																						uc002kwl.3																			0				ovary(2)|skin(1)	3						c.(133-135)GCC>GCT		desmocollin 2 isoform Dsc2a preproprotein							102.0	106.0	105.0					18																	28673541		2203	4300	6503	SO:0001819	synonymous_variant	1824				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28673541G>A	X56807	CCDS11892.1, CCDS11893.1	18q12.1	2014-09-17			ENSG00000134755	ENSG00000134755		"""Cadherins / Major cadherins"""	3036	protein-coding gene	gene with protein product		125645		DSC3		7774948	Standard	NM_024422		Approved	CDHF2	uc002kwl.4	Q02487	OTTHUMG00000131981	ENST00000280904.6:c.135C>T	18.37:g.28673541G>A						DSC2_uc002kwk.3_Silent_p.A45A|DSC2_uc010xbo.1_Silent_p.A45A	p.A45A	NM_024422	NP_077740	Q02487	DSC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.0241)		2	589	-			45						Silent	SNP	ENST00000280904.6	37	c.135C>T	CCDS11892.1																																																																																				0.338	DSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254943.1	NM_004949	
SMAD4	4089	broad.mit.edu	37	18	48604808	48604808	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:48604808C>T	ENST00000342988.3	+	12	2168	c.1630C>T	c.(1630-1632)Ccg>Tcg	p.P544S	SMAD4_ENST00000588745.1_Missense_Mutation_p.P448S|SMAD4_ENST00000398417.2_Missense_Mutation_p.P544S|SMAD4_ENST00000586253.1_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	544	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCATACCATGCCGATTGCAGA	0.458																																						uc010xdp.1																			38	Whole gene deletion(36)|Unknown(2)	p.0?(35)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(1630-1632)CCG>TCG		mothers against decapentaplegic homolog 4							75.0	79.0	77.0					18																	48604808		2203	4300	6503	SO:0001583	missense	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48604808C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1630C>T	18.37:g.48604808C>T	ENSP00000341551:p.Pro544Ser					SMAD4_uc002lfb.3_Missense_Mutation_p.P389S	p.P544S	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	12	2168	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	544			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1630C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014369	0.54468	.	.	ENSG00000141646	ENST00000342988;ENST00000398417	D;D	0.97089	-4.24;-4.24	5.98	5.98	0.97165	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (1);	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	L	0.54965	1.715	0.80722	D	1	P	0.47677	0.899	B	0.34093	0.175	D	0.93440	0.6793	10	0.22706	T	0.39	.	19.2148	0.93772	0.0:1.0:0.0:0.0	.	544	Q13485	SMAD4_HUMAN	S	544	ENSP00000341551:P544S;ENSP00000381452:P544S	ENSP00000341551:P544S	P	+	1	0	SMAD4	46858806	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.639000	0.83342	2.838000	0.97847	0.655000	0.94253	CCG		0.458	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
SERPINB4	6318	broad.mit.edu	37	18	61305084	61305084	+	Missense_Mutation	SNP	C	C	T	rs200350590	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:61305084C>T	ENST00000341074.5	-	8	1157	c.1042G>A	c.(1042-1044)Gct>Act	p.A348T	SERPINB4_ENST00000356424.6_Missense_Mutation_p.A296T	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	348					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A348T(1)|p.A348S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ACTACTACAGCGGTGGCAGCT	0.468													C|||	2	0.000399361	0.0	0.0	5008	,	,		20444	0.0		0.002	False		,,,				2504	0.0					uc002ljf.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|lung(1)	3						c.(1042-1044)GCT>ACT		serine (or cysteine) proteinase inhibitor, clade							105.0	101.0	102.0					18																	61305084		2203	4300	6503	SO:0001583	missense	6318				immune response|regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61305084C>T	X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.1042G>A	18.37:g.61305084C>T	ENSP00000343445:p.Ala348Thr					SERPINB4_uc002lje.2_Missense_Mutation_p.A327T|SERPINB4_uc002ljg.2_Missense_Mutation_p.A348T	p.A348T	NM_002974	NP_002965	P48594	SPB4_HUMAN			8	1128	-			348					A8K847	Missense_Mutation	SNP	ENST00000341074.5	37	c.1042G>A	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	c	12.95	2.091542	0.36952	.	.	ENSG00000206073	ENST00000341074;ENST00000356424	D;D	0.83506	-1.73;-1.73	4.51	2.72	0.32119	Serpin domain (3);	0.344548	0.20980	N	0.082221	T	0.74007	0.3660	L	0.41906	1.305	0.09310	N	1	B;B;B	0.12630	0.002;0.001;0.006	B;B;B	0.10450	0.002;0.001;0.005	T	0.60890	-0.7173	10	0.33940	T	0.23	.	9.8523	0.41064	0.0:0.8322:0.0:0.1678	.	348;348;327	Q5K684;P48594;Q9BYF7	.;SPB4_HUMAN;.	T	348;296	ENSP00000343445:A348T;ENSP00000348795:A296T	ENSP00000343445:A348T	A	-	1	0	SERPINB4	59456064	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.209000	0.17435	0.634000	0.30469	-0.192000	0.12808	GCT		0.468	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2	NM_175041	
FBN3	84467	broad.mit.edu	37	19	8190851	8190851	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:8190851C>T	ENST00000600128.1	-	22	3070	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I	FBN3_ENST00000270509.2_Missense_Mutation_p.V886I|FBN3_ENST00000601739.1_Missense_Mutation_p.V886I			Q75N90	FBN3_HUMAN	fibrillin 3	886	EGF-like 11; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCAGTGTTGACGCAACGCCCG	0.637																																						uc002mjf.2																			0				ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(2656-2658)GTC>ATC		fibrillin 3 precursor							68.0	58.0	61.0					19																	8190851		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8190851C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.2656G>A	19.37:g.8190851C>T	ENSP00000470498:p.Val886Ile						p.V886I	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			21	2677	-			886			EGF-like 11; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.2656G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	5.198	0.221976	0.09863	.	.	ENSG00000142449	ENST00000270509	D	0.90324	-2.65	4.0	-3.64	0.04515	Matrix fibril-associated (1);EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.309128	0.28694	N	0.014452	T	0.77123	0.4084	N	0.12961	0.28	0.29881	N	0.826019	B	0.09022	0.002	B	0.04013	0.001	T	0.61247	-0.7101	10	0.30078	T	0.28	.	8.8603	0.35253	0.0:0.4287:0.1847:0.3866	.	886	Q75N90	FBN3_HUMAN	I	886	ENSP00000270509:V886I	ENSP00000270509:V886I	V	-	1	0	FBN3	8096851	0.433000	0.25562	0.079000	0.20413	0.001000	0.01503	-0.127000	0.10547	-1.022000	0.03346	-2.349000	0.00243	GTC		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
MUC16	94025	broad.mit.edu	37	19	9068764	9068764	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:9068764G>T	ENST00000397910.4	-	3	18885	c.18682C>A	c.(18682-18684)Ctt>Att	p.L6228I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6230	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						GTTGTCACAAGGAGAGGTGCC	0.478																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(18682-18684)CTT>ATT		mucin 16							121.0	122.0	121.0					19																	9068764		2069	4192	6261	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068764G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18682C>A	19.37:g.9068764G>T	ENSP00000381008:p.Leu6228Ile						p.L6228I	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	18886	-			6230			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18682C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	3.210	-0.161930	0.06502	.	.	ENSG00000181143	ENST00000397910	T	0.21734	1.99	1.57	-2.51	0.06365	.	.	.	.	.	T	0.06826	0.0174	N	0.08118	0	.	.	.	P	0.38148	0.62	B	0.25405	0.06	T	0.22243	-1.0222	8	0.87932	D	0	.	3.4387	0.07456	0.2035:0.4445:0.352:0.0	.	6228	B5ME49	.	I	6228	ENSP00000381008:L6228I	ENSP00000381008:L6228I	L	-	1	0	MUC16	8929764	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.206000	0.09398	-0.512000	0.06505	0.174000	0.16983	CTT		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
RTBDN	83546	broad.mit.edu	37	19	12939705	12939705	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:12939705G>A	ENST00000458671.2	-	3	384	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	RTBDN_ENST00000592204.1_Missense_Mutation_p.R88C|RTBDN_ENST00000589272.1_Missense_Mutation_p.R110C|CTD-2265O21.3_ENST00000588469.1_RNA|RTBDN_ENST00000322912.5_Missense_Mutation_p.R110C|RTBDN_ENST00000393233.2_Silent_p.N36N	NM_001080997.2	NP_001074466.1	Q9BSG5	RTBDN_HUMAN	retbindin	78						extracellular region (GO:0005576)				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						ACTCCACAGCGTTCTGGATGG	0.582																																						uc002mvi.2																			0					0						c.(232-234)CGC>TGC		retbindin isoform 1							153.0	124.0	134.0					19																	12939705		2203	4300	6503	SO:0001583	missense	83546					extracellular region		g.chr19:12939705G>A	AY028917	CCDS12283.1, CCDS45994.1, CCDS59355.1, CCDS59356.1	19p13	2006-03-22				ENSG00000132026			30310	protein-coding gene	gene with protein product		609553				12107411	Standard	NM_001080997		Approved	FLJ36353	uc002mvj.4	Q9BSG5		ENST00000458671.2:c.232C>T	19.37:g.12939705G>A	ENSP00000416375:p.Arg78Cys					RTBDN_uc002mvh.1_Missense_Mutation_p.R110C|RTBDN_uc002mvj.2_Missense_Mutation_p.R110C	p.R78C	NM_001080997	NP_001074466	Q9BSG5	RTBDN_HUMAN			3	362	-			78					F1T0I8|Q9BWT5	Missense_Mutation	SNP	ENST00000458671.2	37	c.232C>T	CCDS45994.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.955381	0.53293	.	.	ENSG00000132026	ENST00000322912;ENST00000458671	T;T	0.79141	-1.24;-1.24	4.05	-1.88	0.07713	Folate receptor-like (1);	0.816257	0.10165	N	0.707812	T	0.80819	0.4696	L	0.56769	1.78	0.09310	N	0.999999	D;D;D	0.89917	1.0;1.0;1.0	P;P;P	0.62382	0.901;0.894;0.894	T	0.69815	-0.5043	10	0.87932	D	0	-31.4904	6.5008	0.22168	0.0:0.2919:0.2916:0.4164	.	110;78;88	Q9BSG5-2;Q9BSG5;F1T0I8	.;RTBDN_HUMAN;.	C	110;78	ENSP00000326253:R110C;ENSP00000416375:R78C	ENSP00000326253:R110C	R	-	1	0	RTBDN	12800705	0.000000	0.05858	0.002000	0.10522	0.084000	0.17831	-0.249000	0.08842	-0.306000	0.08818	0.563000	0.77884	CGC		0.582	RTBDN-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451513.1	NM_031429	
GTPBP3	84705	broad.mit.edu	37	19	17450006	17450006	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:17450006C>A	ENST00000324894.8	+	6	807	c.739C>A	c.(739-741)Cgc>Agc	p.R247S	GTPBP3_ENST00000600625.1_Missense_Mutation_p.R247S|GTPBP3_ENST00000358792.7_Missense_Mutation_p.R279S|GTPBP3_ENST00000361619.5_Missense_Mutation_p.R269S|GTPBP3_ENST00000598038.1_3'UTR	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	247					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GCAGAGGCTCCGCTCAGGGGT	0.662																																						uc010eas.2																			0				skin(1)	1						c.(739-741)CGC>AGC		GTP binding protein 3 (mitochondrial) isoform V							37.0	36.0	36.0					19																	17450006		2203	4300	6503	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17450006C>A	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.739C>A	19.37:g.17450006C>A	ENSP00000313818:p.Arg247Ser					GTPBP3_uc010xpo.1_Missense_Mutation_p.R269S|GTPBP3_uc010ear.1_RNA|GTPBP3_uc002ngh.3_Missense_Mutation_p.R247S|GTPBP3_uc002ngg.3_Missense_Mutation_p.R279S|GTPBP3_uc002ngi.3_5'UTR	p.R247S	NM_032620	NP_116009	Q969Y2	GTPB3_HUMAN			6	804	+			247					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.739C>A	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	c	16.27	3.075702	0.55646	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792	T;T;T	0.13538	2.58;2.58;2.58	4.79	4.79	0.61399	.	0.053436	0.64402	D	0.000001	T	0.43122	0.1233	M	0.91249	3.19	0.54753	D	0.99998	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.985;0.978;0.99;0.971	T	0.51309	-0.8722	10	0.87932	D	0	-20.2458	10.5909	0.45308	0.1925:0.8075:0.0:0.0	.	269;247;247;279	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	S	269;247;279	ENSP00000354598:R269S;ENSP00000313818:R247S;ENSP00000351644:R279S	ENSP00000313818:R247S	R	+	1	0	GTPBP3	17311006	1.000000	0.71417	0.909000	0.35828	0.111000	0.19643	4.906000	0.63293	2.204000	0.70986	0.484000	0.47621	CGC		0.662	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620	
UBA52	7311	broad.mit.edu	37	19	18684123	18684123	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:18684123G>C	ENST00000442744.2	+	2	71	c.13G>C	c.(13-15)Gtg>Ctg	p.V5L	UBA52_ENST00000430157.2_Missense_Mutation_p.V5L|UBA52_ENST00000598780.1_Missense_Mutation_p.V5L|UBA52_ENST00000595683.1_Missense_Mutation_p.V5L|UBA52_ENST00000597451.1_Missense_Mutation_p.V5L|CRLF1_ENST00000594325.1_Intron|UBA52_ENST00000596304.1_Missense_Mutation_p.V5L|UBA52_ENST00000595158.1_Missense_Mutation_p.V5L|UBA52_ENST00000596273.1_Missense_Mutation_p.V5L|UBA52_ENST00000599551.1_Missense_Mutation_p.V5L|UBA52_ENST00000599595.1_Missense_Mutation_p.V5L	NM_001033930.1	NP_001029102.1	P62987	RL40_HUMAN	ubiquitin A-52 residue ribosomal protein fusion product 1	5	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						GCAGATCTTTGTGAAGACCCT	0.517																																						uc002njr.2																			0					0						c.(13-15)GTG>CTG		ubiquitin and ribosomal protein L40 precursor							78.0	65.0	70.0					19																	18684123		2203	4300	6503	SO:0001583	missense	7311				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome	g.chr19:18684123G>C		CCDS12382.1	19p13.1-p12	2011-04-06			ENSG00000221983	ENSG00000221983		"""L ribosomal proteins"""	12458	protein-coding gene	gene with protein product	"""ribosomal protein L40"", ""ubiquitin-52 amino acid fusion protein"", ""ubiquitin carboxyl extension protein 52"", ""60S ribosomal protein L40"", ""ubiquitin-CEP52"""	191321				8188300	Standard	XM_005260051		Approved	RPL40, CEP52, HUBCEP52, MGC57125, MGC126879, MGC126881, L40	uc002njs.3	P62987		ENST00000442744.2:c.13G>C	19.37:g.18684123G>C	ENSP00000388107:p.Val5Leu					UBA52_uc002njs.2_Missense_Mutation_p.V5L|UBA52_uc002njt.2_Missense_Mutation_p.V5L	p.V5L	NM_001033930	NP_001029102	P62987	RL40_HUMAN			2	127	+			5			Ubiquitin-like.		P02248|P02249|P02250|P14793|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	ENST00000442744.2	37	c.13G>C	CCDS12382.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011063	0.75046	.	.	ENSG00000221983	ENST00000442744;ENST00000430157	T;T	0.56611	0.45;0.45	4.91	4.91	0.64330	Ubiquitin supergroup (1);Ubiquitin (1);	0.000000	0.85682	D	0.000000	T	0.56232	0.1971	M	0.77712	2.385	0.80722	D	1	B	0.14438	0.01	B	0.13407	0.009	T	0.58526	-0.7621	10	0.54805	T	0.06	-0.6308	15.5936	0.76558	0.0:0.0:1.0:0.0	.	5	P62987	RL40_HUMAN	L	5	ENSP00000388107:V5L;ENSP00000396910:V5L	ENSP00000396910:V5L	V	+	1	0	UBA52	18545123	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.522000	0.98032	2.278000	0.76064	0.462000	0.41574	GTG		0.517	UBA52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465117.2	NM_003333	
ZNF787	126208	broad.mit.edu	37	19	56614551	56614551	+	Silent	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:56614551C>T	ENST00000270459.3	-	2	154	c.36G>A	c.(34-36)ccG>ccA	p.P12P	Y_RNA_ENST00000411128.1_RNA|ZNF787_ENST00000587279.1_Silent_p.P12P	NM_001002836.2	NP_001002836	Q6DD87	ZN787_HUMAN	zinc finger protein 787	12					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CAGAATCCAGCGGCCCCGGAG	0.632																																						uc010eth.1																			0				pancreas(1)	1						c.(34-36)CCG>CCA		zinc finger protein 787							44.0	51.0	49.0					19																	56614551		1967	4141	6108	SO:0001819	synonymous_variant	126208				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56614551C>T	BC077728, AF000560	CCDS42634.1	19q13.42	2013-01-08				ENSG00000142409		"""Zinc fingers, C2H2-type"""	26998	protein-coding gene	gene with protein product							Standard	NM_001002836		Approved		uc010eth.1	Q6DD87		ENST00000270459.3:c.36G>A	19.37:g.56614551C>T						ZNF787_uc002qml.1_Silent_p.P12P	p.P12P	NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN		GBM - Glioblastoma multiforme(193;0.0559)	2	155	-		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	12					O00455	Silent	SNP	ENST00000270459.3	37	c.36G>A	CCDS42634.1																																																																																				0.632	ZNF787-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457498.1	NM_001002836	
ZFP28	140612	broad.mit.edu	37	19	57060380	57060380	+	Missense_Mutation	SNP	G	G	A	rs142184982		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:57060380G>A	ENST00000301318.3	+	5	648	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	ZFP28_ENST00000591844.1_Missense_Mutation_p.E193K|AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	193					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(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GGACTTCTGCGAAGGAAAGCT	0.413																																					Ovarian(124;554 1662 19430 21141 52494)	uc002qnj.2																			0				ovary(1)	1						c.(577-579)GAA>AAA		zinc finger protein 28		G	LYS/GLU	0,4406		0,0,2203	75.0	70.0	72.0		577	0.9	0.0	19	dbSNP_134	72	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ZFP28	NM_020828.1	56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	193/869	57060380	3,13003	2203	4300	6503	SO:0001583	missense	140612				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57060380G>A		CCDS12946.1	19q13.43	2013-01-08	2012-11-27			ENSG00000196867		"""Zinc fingers, C2H2-type"", ""-"""	17801	protein-coding gene	gene with protein product			"""zinc finger protein 28 homolog (mouse)"""				Standard	NM_020828		Approved	KIAA1431, mkr5	uc002qnj.3	Q8NHY6		ENST00000301318.3:c.577G>A	19.37:g.57060380G>A	ENSP00000301318:p.Glu193Lys					ZFP28_uc002qni.2_Missense_Mutation_p.E193K|uc002qnk.1_Intron	p.E193K	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN		GBM - Glioblastoma multiforme(193;0.0302)	5	648	+		Colorectal(82;0.000256)|Ovarian(87;0.243)	193					A0JNV6|K7ES88|Q8NHU8|Q9BY30|Q9P2B6	Missense_Mutation	SNP	ENST00000301318.3	37	c.577G>A	CCDS12946.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.851260	0.32699	0.0	3.49E-4	ENSG00000196867	ENST00000301318	T	0.05786	3.39	4.34	0.87	0.19102	.	1.172930	0.06603	N	0.754134	T	0.03477	0.0100	N	0.12853	0.265	0.09310	N	1	B;B	0.29766	0.008;0.256	B;B	0.21708	0.002;0.036	T	0.47045	-0.9147	10	0.17832	T	0.49	.	6.8086	0.23792	0.3289:0.0:0.6711:0.0	.	193;193	Q8NHY6;A8K0L8	ZFP28_HUMAN;.	K	193	ENSP00000301318:E193K	ENSP00000301318:E193K	E	+	1	0	ZFP28	61752192	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.006000	0.12833	0.145000	0.18977	0.655000	0.94253	GAA		0.413	ZFP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458409.1	NM_020828	
NRXN1	9378	broad.mit.edu	37	2	50765581	50765581	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:50765581G>A	ENST00000406316.2	-	10	3429	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G	NRXN1_ENST00000404971.1_Silent_p.G691G|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.G643G|NRXN1_ENST00000401669.2_Silent_p.G651G|NRXN1_ENST00000406859.3_Silent_p.G651G|NRXN1_ENST00000402717.3_Silent_p.G643G	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	651	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTGCTTTGGCCATCGATGA	0.502																																						uc010fbq.2																			0				ovary(2)	2						c.(2071-2073)GGC>GGT		neurexin 1 isoform alpha2 precursor							220.0	233.0	229.0					2																	50765581		2198	4300	6498	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50765581G>A	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1953C>T	2.37:g.50765581G>A						NRXN1_uc002rxb.3_Silent_p.G323G|NRXN1_uc002rxe.3_Silent_p.G651G|NRXN1_uc002rxc.1_RNA	p.G691G	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		10	3550	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:Variant_position_missing_in_P58400_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.2073C>T	CCDS54360.1																																																																																				0.502	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
PSD4	23550	broad.mit.edu	37	2	113940279	113940279	+	Silent	SNP	C	C	T	rs147089589		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:113940279C>T	ENST00000245796.6	+	2	441	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_ENST00000441564.3_Silent_p.D82D|PSD4_ENST00000465917.1_3'UTR	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	82					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622																																						uc002tjc.2																			0				ovary(2)	2						c.(244-246)GAC>GAT		pleckstrin and Sec7 domain containing 4		T		1,4405	2.1+/-5.4	0,1,2202	51.0	52.0	52.0		246	-1.1	0.0	2	dbSNP_134	52	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PSD4	NM_012455.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		82/1057	113940279	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940279C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.246C>T	2.37:g.113940279C>T						PSD4_uc002tjd.2_Translation_Start_Site|PSD4_uc002tje.2_Silent_p.D81D|PSD4_uc002tjf.2_5'Flank	p.D82D	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			2	429	+			82					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	c.246C>T	CCDS33276.1																																																																																				0.622	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455	
SLC4A10	57282	broad.mit.edu	37	2	162815003	162815003	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:162815003C>T	ENST00000446997.1	+	21	2893	c.2800C>T	c.(2800-2802)Ccc>Tcc	p.P934S	SLC4A10_ENST00000415876.2_Missense_Mutation_p.P904S|SLC4A10_ENST00000272716.5_Missense_Mutation_p.P904S|SLC4A10_ENST00000421911.1_Missense_Mutation_p.P934S|SLC4A10_ENST00000375514.5_Missense_Mutation_p.P915S	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	934					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	ACAGTTTATTCCCATGCCAGT	0.343																																						uc002ubx.3																			0				ovary(2)|lung(2)|pancreas(1)	5						c.(2800-2802)CCC>TCC		solute carrier family 4, sodium bicarbonate							161.0	141.0	147.0					2																	162815003		1836	4087	5923	SO:0001583	missense	57282				bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	g.chr2:162815003C>T		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2800C>T	2.37:g.162815003C>T	ENSP00000393066:p.Pro934Ser					SLC4A10_uc002uby.3_Missense_Mutation_p.P904S|SLC4A10_uc010zcs.1_Missense_Mutation_p.P915S	p.P934S	NM_022058	NP_071341	Q6U841	S4A10_HUMAN			21	2984	+			934			Cytoplasmic (Potential).		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	37	c.2800C>T	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	C	30	5.053450	0.93793	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	5.84	5.84	0.93424	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96938	0.9000	H	0.97265	3.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	D	0.97709	1.0189	10	0.87932	D	0	.	20.1379	0.98040	0.0:1.0:0.0:0.0	.	915;904;934	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	S	915;904;904;903;934;934;933	ENSP00000364664:P915S;ENSP00000395797:P904S;ENSP00000272716:P904S;ENSP00000393066:P934S;ENSP00000404486:P934S	ENSP00000272716:P904S	P	+	1	0	SLC4A10	162523249	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.055000	0.71103	2.779000	0.95612	0.655000	0.94253	CCC		0.343	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
TTN	7273	broad.mit.edu	37	2	179469893	179469893	+	Missense_Mutation	SNP	T	T	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:179469893T>G	ENST00000591111.1	-	230	49312	c.49088A>C	c.(49087-49089)gAa>gCa	p.E16363A	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9131A|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9064A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8939A|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15436A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E18004A|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16363	Ig-like 100.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTACAGTTTCATTTTTGGA	0.468																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(46306-46308)GAA>GCA		titin isoform N2-A							90.0	83.0	85.0					2																	179469893		1847	4091	5938	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179469893T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49088A>C	2.37:g.179469893T>G	ENSP00000465570:p.Glu16363Ala					uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E9131A|TTN_uc010zfi.1_Missense_Mutation_p.E9064A|TTN_uc010zfj.1_Missense_Mutation_p.E8939A	p.E15436A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		229	46531	-			16363					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.46307A>C		.	.	.	.	.	.	.	.	.	.	T	14.01	2.409054	0.42715	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.74	5.74	0.90152	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32436	0.0829	N	0.17278	0.47	0.53688	D	0.999971	P;P;P;P	0.40578	0.722;0.722;0.722;0.722	B;B;B;B	0.39738	0.308;0.308;0.308;0.308	T	0.26503	-1.0101	9	0.87932	D	0	.	16.0476	0.80731	0.0:0.0:0.0:1.0	.	8939;9064;9131;16363	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	15436;8939;9131;9064;8939	ENSP00000343764:E15436A;ENSP00000434586:E8939A;ENSP00000340554:E9131A;ENSP00000352154:E9064A	ENSP00000340554:E9131A	E	-	2	0	TTN	179178138	1.000000	0.71417	0.960000	0.40013	0.954000	0.61252	6.197000	0.72100	2.190000	0.69967	0.460000	0.39030	GAA		0.468	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZNF804A	91752	broad.mit.edu	37	2	185802437	185802437	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:185802437C>T	ENST00000302277.6	+	4	2908	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	772							metal ion binding (GO:0046872)	p.R772C(1)		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						CTATCGAAAACGTAGACAACA	0.343																																						uc002uph.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|large_intestine(1)|pancreas(1)	11						c.(2314-2316)CGT>TGT		zinc finger protein 804A							54.0	56.0	55.0					2																	185802437		2203	4300	6503	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802437C>T	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.2314C>T	2.37:g.185802437C>T	ENSP00000303252:p.Arg772Cys						p.R772C	NM_194250	NP_919226	Q7Z570	Z804A_HUMAN			4	2908	+			772					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2314C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.401501	0.62288	.	.	ENSG00000170396	ENST00000302277	T	0.17054	2.3	5.96	5.01	0.66863	.	0.000000	0.56097	D	0.000039	T	0.38374	0.1038	L	0.55481	1.735	0.48830	D	0.999714	D	0.89917	1.0	D	0.75484	0.986	T	0.06058	-1.0848	10	0.87932	D	0	-11.9814	17.0512	0.86519	0.1353:0.8647:0.0:0.0	.	772	Q7Z570	Z804A_HUMAN	C	772	ENSP00000303252:R772C	ENSP00000303252:R772C	R	+	1	0	ZNF804A	185510682	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.828000	0.48120	2.826000	0.97356	0.655000	0.94253	CGT		0.343	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
NBEAL1	65065	broad.mit.edu	37	2	204000539	204000539	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:204000539T>C	ENST00000449802.1	+	27	4199	c.3866T>C	c.(3865-3867)gTt>gCt	p.V1289A		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1289										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTAGAGCTGTTTTAATGAAA	0.343																																						uc002uzt.3																			0				ovary(1)|skin(1)	2						c.(3865-3867)GTT>GCT		neurobeachin-like 1 isoform 3							43.0	39.0	40.0					2																	204000539		1825	4085	5910	SO:0001583	missense	65065						binding	g.chr2:204000539T>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.3866T>C	2.37:g.204000539T>C	ENSP00000399903:p.Val1289Ala					NBEAL1_uc002uzs.3_5'UTR	p.V1289A	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN			27	4199	+			1289					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.3866T>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	T	0.726	-0.781761	0.02929	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.52983	0.64	5.45	1.53	0.23141	.	.	.	.	.	T	0.21509	0.0518	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21621	-1.0240	9	0.16896	T	0.51	.	3.7393	0.08523	0.3449:0.1939:0.0:0.4612	.	1289	Q6ZS30	NBEL1_HUMAN	A	1289	ENSP00000399903:V1289A	ENSP00000344985:V1289A	V	+	2	0	NBEAL1	203708784	0.011000	0.17503	0.000000	0.03702	0.022000	0.10575	1.346000	0.33964	0.385000	0.24970	-0.290000	0.09829	GTT		0.343	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
MRPS26	64949	broad.mit.edu	37	20	3027090	3027090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:3027090delC	ENST00000380325.3	+	2	408	c.284delC	c.(283-285)gccfs	p.A95fs		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	95					DNA damage response, detection of DNA damage (GO:0042769)|peptide biosynthetic process (GO:0043043)	mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|lung(1)	2						GAGCGCAAGGCCCTGAAGGAC	0.716																																						uc002whs.2																			0					0						c.(283-285)GCCfs		mitochondrial ribosomal protein S26 precursor							19.0	22.0	21.0					20																	3027090		2191	4289	6480	SO:0001589	frameshift_variant	64949				DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit		g.chr20:3027090delC	AB051354	CCDS13043.1	20p13	2012-09-13	2004-09-22		ENSG00000125901	ENSG00000125901		"""Mitochondrial ribosomal proteins / small subunits"""	14045	protein-coding gene	gene with protein product		611988	"""chromosome 20 open reading frame 193"""	C20orf193		11543634	Standard	NM_030811		Approved	MRP-S13, MRP-S26, RPMS13, dJ534B8.3	uc002whs.3	Q9BYN8	OTTHUMG00000031721	ENST00000380325.3:c.284delC	20.37:g.3027090delC	ENSP00000369682:p.Ala95fs						p.A95fs	NM_030811	NP_110438	Q9BYN8	RT26_HUMAN			2	324	+			95					Q96Q58	Frame_Shift_Del	DEL	ENST00000380325.3	37	c.284delC	CCDS13043.1																																																																																				0.716	MRPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077692.2	NM_030811	
SNX21	90203	broad.mit.edu	37	20	44469563	44469563	+	Missense_Mutation	SNP	C	C	T	rs551089787	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:44469563C>T	ENST00000491381.1	+	4	801	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	SNX21_ENST00000372542.1_Missense_Mutation_p.R236W|SNX21_ENST00000342644.5_Intron|SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000344780.4_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	245	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCCGGAGCTGCGGCGGGCACA	0.662													C|||	4	0.000798722	0.0	0.0	5008	,	,		14104	0.004		0.0	False		,,,				2504	0.0					uc002xpv.1																			0				breast(1)|pancreas(1)	2						c.(733-735)CGG>TGG		sorting nexin 21 isoform a							21.0	24.0	23.0					20																	44469563		2198	4270	6468	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469563C>T	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.733C>T	20.37:g.44469563C>T	ENSP00000418593:p.Arg245Trp					SNX21_uc002xps.1_Intron|SNX21_uc002xpt.1_3'UTR|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R56W|SNX21_uc002xpx.2_Missense_Mutation_p.R235W|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.R56W|SNX21_uc002xpz.1_Missense_Mutation_p.R56W	p.R245W	NM_033421	NP_219489	Q969T3	SNX21_HUMAN			4	822	+		Myeloproliferative disorder(115;0.0122)	245			PX.		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.733C>T	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	C	19.67	3.870790	0.72065	.	.	ENSG00000124104	ENST00000491381;ENST00000372542	T;T	0.63913	-0.07;-0.07	4.32	4.32	0.51571	Phox homologous domain (2);Tetratricopeptide-like helical (1);	0.270314	0.38058	N	0.001823	T	0.60932	0.2307	L	0.55990	1.75	0.80722	D	1	D;D	0.56287	0.975;0.975	B;B	0.43809	0.23;0.432	T	0.69624	-0.5095	10	0.87932	D	0	-11.0479	15.9699	0.80004	0.0:1.0:0.0:0.0	.	236;245	Q5JZH3;Q969T3	.;SNX21_HUMAN	W	245;236	ENSP00000418593:R245W;ENSP00000361620:R236W	ENSP00000361620:R236W	R	+	1	2	SNX21	43902970	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	3.203000	0.51075	2.249000	0.74217	0.462000	0.41574	CGG		0.662	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421	
PREX1	57580	broad.mit.edu	37	20	47276521	47276521	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:47276521C>T	ENST00000371941.3	-	16	1839	c.1817G>A	c.(1816-1818)aGc>aAc	p.S606N	PREX1_ENST00000396220.1_Missense_Mutation_p.S606N	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	606					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTTGTTCTTGCTGCTGGTCCC	0.562																																						uc002xtw.1																			0				lung(3)|ovary(2)|pancreas(1)	6						c.(1816-1818)AGC>AAC		phosphatidylinositol-3,4,							180.0	139.0	153.0					20																	47276521		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47276521C>T	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.1817G>A	20.37:g.47276521C>T	ENSP00000361009:p.Ser606Asn						p.S606N	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		16	1840	-			606					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.1817G>A	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	C	14.98	2.698791	0.48307	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.15718	2.4;2.4	5.42	1.09	0.20402	Winged helix-turn-helix transcription repressor DNA-binding (1);PDZ/DHR/GLGF (1);	0.333207	0.24933	U	0.034445	T	0.15825	0.0381	L	0.57536	1.79	0.42632	D	0.993381	B	0.02656	0.0	B	0.08055	0.003	T	0.05649	-1.0872	10	0.44086	T	0.13	.	8.5331	0.33346	0.0:0.3906:0.4721:0.1373	.	606	Q8TCU6	PREX1_HUMAN	N	606	ENSP00000361009:S606N;ENSP00000379522:S606N	ENSP00000361009:S606N	S	-	2	0	PREX1	46709928	1.000000	0.71417	0.965000	0.40720	0.993000	0.82548	2.172000	0.42463	0.267000	0.21916	0.505000	0.49811	AGC		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
TBC1D22A	25771	broad.mit.edu	37	22	47507479	47507479	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr22:47507479C>G	ENST00000337137.4	+	12	1571	c.1405C>G	c.(1405-1407)Cta>Gta	p.L469V	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.L422V|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.L391V|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.L410V	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	469							protein homodimerization activity (GO:0042803)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GAAGGAAATACTAGAAGAAAA	0.368																																						uc003bib.2																			0				ovary(1)	1						c.(1405-1407)CTA>GTA		TBC1 domain family, member 22A							86.0	85.0	85.0					22																	47507479		2203	4300	6503	SO:0001583	missense	25771					intracellular	protein homodimerization activity|Rab GTPase activator activity	g.chr22:47507479C>G	AK125705	CCDS14078.1, CCDS63511.1, CCDS63512.1, CCDS74877.1	22q13	2008-01-22	2005-01-05	2005-01-05	ENSG00000054611	ENSG00000054611			1309	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 4"""	C22orf4			Standard	XM_005261496		Approved		uc003bib.3	Q8WUA7	OTTHUMG00000150332	ENST00000337137.4:c.1405C>G	22.37:g.47507479C>G	ENSP00000336724:p.Leu469Val					TBC1D22A_uc010haf.2_Missense_Mutation_p.L439V|TBC1D22A_uc003bic.2_Missense_Mutation_p.L410V|TBC1D22A_uc003bie.2_Missense_Mutation_p.L391V|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.L422V	p.L469V	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)	12	1540	+		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)	469					B0QYI2|B0QYI3|B9A6M3|Q5TE47|Q6ZUH2|Q92680|Q9BVD6|Q9UGG0|Q9UGT2|Q9UGU6|Q9UH25|Q9Y4W5	Missense_Mutation	SNP	ENST00000337137.4	37	c.1405C>G	CCDS14078.1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836333	0.71373	.	.	ENSG00000054611	ENST00000337137;ENST00000407381;ENST00000355704;ENST00000406733	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	5.3	5.3	0.74995	Rab-GAP/TBC domain (3);	0.000000	0.64402	D	0.000001	T	0.55305	0.1912	M	0.89534	3.04	0.80722	D	1	B;P;P;B	0.52842	0.389;0.956;0.939;0.389	B;P;P;B	0.58454	0.362;0.819;0.839;0.362	T	0.62086	-0.6928	10	0.54805	T	0.06	.	9.9716	0.41757	0.0:0.9078:0.0:0.0922	.	469;391;410;469	B9A6M3;Q8WUA7-2;B0QYI1;Q8WUA7	.;.;.;TB22A_HUMAN	V	469;410;391;422	ENSP00000336724:L469V;ENSP00000384036:L410V;ENSP00000347932:L391V;ENSP00000385634:L422V	ENSP00000336724:L469V	L	+	1	2	TBC1D22A	45886143	0.921000	0.31238	0.995000	0.50966	0.995000	0.86356	1.856000	0.39389	2.462000	0.83206	0.655000	0.94253	CTA		0.368	TBC1D22A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317600.3	NM_014346	
TRAK1	22906	broad.mit.edu	37	3	42242538	42242538	+	Silent	SNP	C	C	T	rs143049389	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:42242538C>T	ENST00000327628.5	+	12	1819	c.1419C>T	c.(1417-1419)gcC>gcT	p.A473A	TRAK1_ENST00000396175.1_Silent_p.A415A|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000449246.1_Silent_p.A399A|TRAK1_ENST00000341421.3_Silent_p.A415A	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	473	Interaction with HGS.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CAGAGGCAGCCGACCTGGGGT	0.542													C|||	9	0.00179712	0.0008	0.0014	5008	,	,		17521	0.0		0.004	False		,,,				2504	0.0031				GBM(44;195 884 22595 31865 41850)	uc003cky.2																			0				ovary(1)	1						c.(1417-1419)GCC>GCT		OGT(O-Glc-NAc transferase)-interacting protein		C	,	4,4402	8.1+/-20.4	0,4,2199	41.0	42.0	42.0		1419,1245	-7.7	0.0	3	dbSNP_134	42	52,8548	31.2+/-83.2	0,52,4248	no	coding-synonymous,coding-synonymous	TRAK1	NM_001042646.1,NM_014965.3	,	0,56,6447	TT,TC,CC		0.6047,0.0908,0.4306	,	473/954,415/687	42242538	56,12950	2203	4300	6503	SO:0001819	synonymous_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42242538C>T		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1419C>T	3.37:g.42242538C>T						TRAK1_uc011azh.1_Silent_p.A473A|TRAK1_uc011azi.1_Silent_p.A473A|TRAK1_uc003ckz.3_Silent_p.A399A|TRAK1_uc011azj.1_Silent_p.A399A|TRAK1_uc003cla.2_Silent_p.A415A	p.A473A	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			12	1635	+			473			Interaction with HGS.		E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	ENST00000327628.5	37	c.1419C>T	CCDS43072.1																																																																																				0.542	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	
CADM2	253559	broad.mit.edu	37	3	85932587	85932587	+	Missense_Mutation	SNP	G	G	A	rs138383256		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:85932587G>A	ENST00000407528.2	+	3	420	c.358G>A	c.(358-360)Gtt>Att	p.V120I	CADM2_ENST00000383699.3_Missense_Mutation_p.V129I|CADM2_ENST00000405615.2_Missense_Mutation_p.V122I	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	120					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATATCTCACCGTTCTGGGTAA	0.358													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16190	0.0		0.0	False		,,,				2504	0.0					uc003dqj.2																			0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(358-360)GTT>ATT		immunoglobulin superfamily, member 4D		G	ILE/VAL,ILE/VAL,ILE/VAL	0,4406		0,0,2203	80.0	68.0	72.0		358,385,364	4.7	1.0	3	dbSNP_134	72	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CADM2	NM_001167674.1,NM_001167675.1,NM_153184.3	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	120/436,129/405,122/438	85932587	1,13005	2203	4300	6503	SO:0001583	missense	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:85932587G>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.358G>A	3.37:g.85932587G>A	ENSP00000384575:p.Val120Ile					CADM2_uc003dqk.2_Missense_Mutation_p.V129I|CADM2_uc003dql.2_Missense_Mutation_p.V122I	p.V120I	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	3	984	+		Lung NSC(201;0.0148)	120			Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	37	c.358G>A	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203461	0.58234	0.0	1.16E-4	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.58652	0.32;0.32;0.32	5.54	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.107986	0.64402	D	0.000007	T	0.81394	0.4813	M	0.92691	3.335	0.54753	D	0.999982	D;D;D	0.89917	1.0;0.998;0.999	D;D;D	0.79108	0.987;0.987;0.992	D	0.86771	0.1973	10	0.87932	D	0	.	16.0273	0.80551	0.0:0.0:0.8644:0.1356	.	122;129;120	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	I	129;120;122	ENSP00000373200:V129I;ENSP00000384575:V120I;ENSP00000384193:V122I	ENSP00000373200:V129I	V	+	1	0	CADM2	86015277	1.000000	0.71417	1.000000	0.80357	0.107000	0.19398	9.420000	0.97426	1.449000	0.47699	0.650000	0.86243	GTT		0.358	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
MYLK	4638	broad.mit.edu	37	3	123333123	123333123	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:123333123G>A	ENST00000475616.1	-	31	5573	c.5574C>T	c.(5572-5574)gaC>gaT	p.D1858D	MYLK_ENST00000359169.1_Silent_p.D1807D|MYLK_ENST00000418370.2_Silent_p.D98D|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000578202.1_Silent_p.D97D|MYLK_ENST00000360304.3_Silent_p.D1858D|MYLK_ENST00000354792.5_Silent_p.D658D|MYLK_ENST00000346322.5_Silent_p.D1789D|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000360772.3_Silent_p.D1807D|MYLK_ENST00000583087.1_Silent_p.D98D|MYLK-AS1_ENST00000463408.1_RNA			Q15746	MYLK_HUMAN	myosin light chain kinase	1858	Ig-like C2-type 9.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTCATCGTAGTCTATCTGGA	0.502																																						uc003ego.2																			0				ovary(6)|skin(2)|stomach(1)	9						c.(5572-5574)GAC>GAT		myosin light chain kinase isoform 1							132.0	133.0	132.0					3																	123333123		2203	4300	6503	SO:0001819	synonymous_variant	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123333123G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.5574C>T	3.37:g.123333123G>A						uc003egk.2_Intron|MYLK_uc003egl.2_Silent_p.D98D|MYLK_uc003egm.2_Silent_p.D97D|MYLK_uc010hrr.2_Silent_p.D293D|MYLK_uc011bjv.1_Silent_p.D658D|MYLK_uc011bjw.1_Silent_p.D1857D|MYLK_uc003egp.2_Silent_p.D1789D|MYLK_uc003egq.2_Silent_p.D1807D|MYLK_uc003egr.2_Silent_p.D1738D|MYLK_uc003egs.2_Silent_p.D1682D	p.D1858D	NM_053025	NP_444253	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	34	5856	-		Lung NSC(201;0.0496)	1858			Ig-like C2-type 9.		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Silent	SNP	ENST00000475616.1	37	c.5574C>T	CCDS46896.1																																																																																				0.502	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025	
ZBBX	79740	broad.mit.edu	37	3	167035369	167035369	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:167035369G>C	ENST00000392766.2	-	13	1340	c.1000C>G	c.(1000-1002)Ctt>Gtt	p.L334V	ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000455345.2_Missense_Mutation_p.L334V|ZBBX_ENST00000307529.5_Missense_Mutation_p.L334V|ZBBX_ENST00000392767.2_Missense_Mutation_p.L334V|ZBBX_ENST00000392764.1_Missense_Mutation_p.L305V	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	334						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTTAAAAAGTTGCTCTTGT	0.348																																						uc003fep.2																			0				ovary(2)	2						c.(1000-1002)CTT>GTT		zinc finger, B-box domain containing							153.0	139.0	143.0					3																	167035369		1831	4077	5908	SO:0001583	missense	79740					intracellular	zinc ion binding	g.chr3:167035369G>C	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1000C>G	3.37:g.167035369G>C	ENSP00000376519:p.Leu334Val					ZBBX_uc011bpc.1_Missense_Mutation_p.L334V|ZBBX_uc003feq.2_Missense_Mutation_p.L305V	p.L334V	NM_024687	NP_078963	A8MT70	ZBBX_HUMAN			13	1323	-			334					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Missense_Mutation	SNP	ENST00000392766.2	37	c.1000C>G	CCDS3199.2	.	.	.	.	.	.	.	.	.	.	G	12.72	2.022533	0.35701	.	.	ENSG00000169064	ENST00000392766;ENST00000392767;ENST00000455345;ENST00000307529;ENST00000392764	T;T;T;T;T	0.11821	2.91;2.91;2.89;2.89;2.74	5.08	0.825	0.18824	.	1.007950	0.07977	N	0.984971	T	0.12603	0.0306	L	0.59436	1.845	0.09310	N	1	B;B	0.29432	0.244;0.158	B;B	0.24974	0.057;0.026	T	0.34179	-0.9839	10	0.38643	T	0.18	-0.0059	3.4709	0.07567	0.0905:0.3199:0.4251:0.1645	.	334;334	A8MT70-2;A8MT70	.;ZBBX_HUMAN	V	334;334;334;334;305	ENSP00000376519:L334V;ENSP00000376520:L334V;ENSP00000390232:L334V;ENSP00000305065:L334V;ENSP00000376517:L305V	ENSP00000305065:L334V	L	-	1	0	ZBBX	168518063	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	1.169000	0.31871	0.345000	0.23873	-0.188000	0.12872	CTT		0.348	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	NM_024687	
ABCC5	10057	broad.mit.edu	37	3	183665139	183665139	+	Silent	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:183665139C>A	ENST00000334444.6	-	23	3627	c.3387G>T	c.(3385-3387)gcG>gcT	p.A1129A	ABCC5_ENST00000265586.6_Silent_p.A1086A	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1129	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	TGGCGAGACCCGCATAGGCTG	0.567																																						uc003fmg.2																			0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(3385-3387)GCG>GCT		ATP-binding cassette, sub-family C, member 5							40.0	46.0	44.0					3																	183665139		2050	4178	6228	SO:0001819	synonymous_variant	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183665139C>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.3387G>T	3.37:g.183665139C>A						ABCC5_uc011bqt.1_Silent_p.A657A|ABCC5_uc010hxl.2_Silent_p.A1086A	p.A1129A	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		23	3552	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		1129			ABC transmembrane type-1 2.|Helical; (Potential).		B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Silent	SNP	ENST00000334444.6	37	c.3387G>T	CCDS43176.1																																																																																				0.567	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	
EIF4G1	1981	broad.mit.edu	37	3	184044341	184044341	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:184044341G>A	ENST00000346169.2	+	22	3520	c.3249G>A	c.(3247-3249)caG>caA	p.Q1083Q	EIF4G1_ENST00000319274.6_Silent_p.Q1083Q|EIF4G1_ENST00000350481.5_Silent_p.Q919Q|EIF4G1_ENST00000424196.1_Silent_p.Q1090Q|EIF4G1_ENST00000352767.3_Silent_p.Q1090Q|EIF4G1_ENST00000342981.4_Silent_p.Q1084Q|EIF4G1_ENST00000382330.3_Silent_p.Q1090Q|EIF4G1_ENST00000414031.1_Silent_p.Q1043Q|EIF4G1_ENST00000434061.2_Silent_p.Q888Q|EIF4G1_ENST00000441154.1_Silent_p.Q920Q|EIF4G1_ENST00000411531.1_Silent_p.Q1044Q|EIF4G1_ENST00000392537.2_Silent_p.Q996Q|EIF4G1_ENST00000435046.2_Silent_p.Q887Q|SNORD66_ENST00000390856.1_RNA|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000427845.1_Silent_p.Q997Q	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1083	eIF3/EIF4A-binding.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTAACAACCAGCTCTTTGCAC	0.587																																						uc003fnp.2																			0				lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(3247-3249)CAG>CAA		eukaryotic translation initiation factor 4							94.0	88.0	90.0					3																	184044341		2203	4300	6503	SO:0001819	synonymous_variant	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184044341G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.3249G>A	3.37:g.184044341G>A						EIF4G1_uc003fnt.2_Silent_p.Q794Q|EIF4G1_uc003fnq.2_Silent_p.Q996Q|EIF4G1_uc003fnr.2_Silent_p.Q919Q|EIF4G1_uc010hxx.2_Silent_p.Q1090Q|EIF4G1_uc003fns.2_Silent_p.Q1043Q|EIF4G1_uc010hxy.2_Silent_p.Q1090Q|EIF4G1_uc003fnv.3_Silent_p.Q1084Q|EIF4G1_uc003fnu.3_Silent_p.Q1083Q|EIF4G1_uc003fnw.2_Silent_p.Q1090Q|EIF4G1_uc003fnx.2_Silent_p.Q888Q|EIF4G1_uc003fny.3_Silent_p.Q887Q|EIF4G1_uc003foa.2_5'Flank	p.Q1083Q	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		22	3447	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		1083			eIF3/EIF4A-binding.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Silent	SNP	ENST00000346169.2	37	c.3249G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	9.518	1.107592	0.20714	.	.	ENSG00000114867	ENST00000448284	.	.	.	6.17	1.83	0.25207	.	.	.	.	.	T	0.54565	0.1866	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45234	-0.9275	4	.	.	.	-15.1377	6.9171	0.24365	0.2723:0.0:0.6084:0.1193	.	.	.	.	N	137	.	.	S	+	2	0	EIF4G1	185527035	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.944000	0.40263	0.450000	0.26774	-0.137000	0.14449	AGC		0.587	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917	
CCDC96	257236	broad.mit.edu	37	4	7043696	7043696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:7043696C>A	ENST00000310085.4	-	1	1032	c.970G>T	c.(970-972)Gag>Tag	p.E324*	TADA2B_ENST00000310074.7_5'Flank|RP11-367J11.2_ENST00000500031.1_RNA|TADA2B_ENST00000512388.1_5'Flank	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	324										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CACTCCTTCTCCACCCTGGTG	0.642																																						uc003gjv.2																			0					0						c.(970-972)GAG>TAG		coiled-coil domain containing 96							72.0	77.0	75.0					4																	7043696		2203	4300	6503	SO:0001587	stop_gained	257236							g.chr4:7043696C>A	AK075056	CCDS3395.1	4p16.1	2008-02-05			ENSG00000173013	ENSG00000173013			26900	protein-coding gene	gene with protein product							Standard	NM_153376		Approved	FLJ90575	uc003gjv.2	Q2M329	OTTHUMG00000125511	ENST00000310085.4:c.970G>T	4.37:g.7043696C>A	ENSP00000309285:p.Glu324*					TADA2B_uc003gjw.3_5'Flank|TADA2B_uc010idi.2_5'Flank	p.E324*	NM_153376	NP_699207	Q2M329	CCD96_HUMAN			1	1033	-			324			Potential.		Q8N2I7	Nonsense_Mutation	SNP	ENST00000310085.4	37	c.970G>T	CCDS3395.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.531223	0.85706	.	.	ENSG00000173013	ENST00000310085	.	.	.	3.89	3.89	0.44902	.	0.177748	0.34853	N	0.003628	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-16.8253	12.0768	0.53649	0.0:0.7689:0.2311:0.0	.	.	.	.	X	324	.	ENSP00000309285:E324X	E	-	1	0	CCDC96	7094597	1.000000	0.71417	0.729000	0.30791	0.197000	0.23852	1.169000	0.31871	2.010000	0.58986	0.462000	0.41574	GAG		0.642	CCDC96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246838.1	NM_153376	
FGFBP1	9982	broad.mit.edu	37	4	15937922	15937922	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:15937922A>G	ENST00000382333.1	-	3	628	c.334T>C	c.(334-336)Tat>Cat	p.Y112H	FGFBP1_ENST00000259988.2_Missense_Mutation_p.Y112H	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	112					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TGTTTCCAATAGACTCTCTCA	0.448																																						uc003gom.2																			0					0						c.(334-336)TAT>CAT		fibroblast growth factor binding protein 1							107.0	102.0	104.0					4																	15937922		2203	4300	6503	SO:0001583	missense	9982				cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding	g.chr4:15937922A>G	M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.334T>C	4.37:g.15937922A>G	ENSP00000371770:p.Tyr112His						p.Y112H	NM_005130	NP_005121	Q14512	FGFP1_HUMAN			2	452	-			112					A8K5J2	Missense_Mutation	SNP	ENST00000382333.1	37	c.334T>C	CCDS3418.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.540738	0.45280	.	.	ENSG00000137440	ENST00000382333;ENST00000259988	T;T	0.42900	0.96;0.96	5.51	5.51	0.81932	.	0.059468	0.64402	D	0.000001	T	0.65471	0.2694	M	0.79475	2.455	0.39925	D	0.974211	D	0.89917	1.0	D	0.79108	0.992	T	0.71873	-0.4461	10	0.87932	D	0	-8.8227	14.6039	0.68463	1.0:0.0:0.0:0.0	.	112	Q14512	FGFP1_HUMAN	H	112	ENSP00000371770:Y112H;ENSP00000259988:Y112H	ENSP00000259988:Y112H	Y	-	1	0	FGFBP1	15547020	0.996000	0.38824	0.092000	0.20876	0.021000	0.10359	3.918000	0.56432	2.111000	0.64477	0.448000	0.29417	TAT		0.448	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214974.1	NM_005130	
ARAP2	116984	broad.mit.edu	37	4	36168644	36168644	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:36168644G>C	ENST00000303965.4	-	10	2372	c.1883C>G	c.(1882-1884)aCc>aGc	p.T628S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	628	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGGAATTATGGTAATACCAAG	0.294																																						uc003gsq.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(1882-1884)ACC>AGC		ArfGAP with RhoGAP domain, ankyrin repeat and PH							84.0	83.0	83.0					4																	36168644		2202	4299	6501	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36168644G>C	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.1883C>G	4.37:g.36168644G>C	ENSP00000302895:p.Thr628Ser					ARAP2_uc003gsr.1_Missense_Mutation_p.T628S	p.T628S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			10	2221	-			628			PH 2.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.1883C>G	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	G	19.29	3.799448	0.70567	.	.	ENSG00000047365	ENST00000303965	T	0.74737	-0.87	5.41	5.41	0.78517	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.185209	0.46758	D	0.000266	T	0.75766	0.3894	L	0.45137	1.4	0.39118	D	0.961616	P;P	0.45986	0.87;0.644	P;B	0.51550	0.673;0.407	T	0.71748	-0.4499	10	0.19590	T	0.45	.	17.7507	0.88432	0.0:0.0:1.0:0.0	.	558;628	A7E2A5;Q8WZ64	.;ARAP2_HUMAN	S	628	ENSP00000302895:T628S	ENSP00000302895:T628S	T	-	2	0	ARAP2	35845039	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.093000	0.57714	2.704000	0.92352	0.650000	0.86243	ACC		0.294	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2	NM_015230	
RBM47	54502	broad.mit.edu	37	4	40440352	40440352	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:40440352C>T	ENST00000381793.2	-	3	955	c.559G>A	c.(559-561)Gcg>Acg	p.A187T	RBM47_ENST00000319592.4_Missense_Mutation_p.A187T|RBM47_ENST00000514014.1_Missense_Mutation_p.A149T|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Missense_Mutation_p.A187T|RBM47_ENST00000295971.7_Missense_Mutation_p.A187T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	187	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTGTCGGCCGCGCTGGCGTAG	0.637																																						uc003gvc.2																			0				breast(3)	3						c.(559-561)GCG>ACG		RNA binding motif protein 47 isoform a							59.0	53.0	55.0					4																	40440352		2203	4298	6501	SO:0001583	missense	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440352C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.559G>A	4.37:g.40440352C>T	ENSP00000371212:p.Ala187Thr					RBM47_uc003gvd.2_Missense_Mutation_p.A187T|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.A149T|RBM47_uc003gvg.1_Missense_Mutation_p.A187T	p.A187T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN			4	1269	-			187			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Missense_Mutation	SNP	ENST00000381793.2	37	c.559G>A	CCDS43223.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466338	0.63625	.	.	ENSG00000163694	ENST00000319592;ENST00000381793;ENST00000381795;ENST00000295971;ENST00000514014;ENST00000515053;ENST00000513473	T;T;T;T;T;T;T	0.25085	2.33;2.21;2.33;2.21;2.23;1.91;1.82	5.8	4.95	0.65309	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	M	0.78344	2.41	0.80722	D	1	D;P	0.69078	0.997;0.898	D;P	0.77004	0.989;0.713	T	0.51779	-0.8662	10	0.52906	T	0.07	-23.8865	15.2783	0.73760	0.0:0.9317:0.0:0.0683	.	187;187	A0AV96-2;A0AV96	.;RBM47_HUMAN	T	187;187;187;187;149;187;187	ENSP00000320108:A187T;ENSP00000371212:A187T;ENSP00000371214:A187T;ENSP00000295971:A187T;ENSP00000423243:A149T;ENSP00000422564:A187T;ENSP00000421589:A187T	ENSP00000295971:A187T	A	-	1	0	RBM47	40135109	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.999000	0.70665	2.747000	0.94245	0.462000	0.41574	GCG		0.637	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027	
TMEM150C	441027	broad.mit.edu	37	4	83417295	83417295	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:83417295G>T	ENST00000515780.2	-	6	493	c.289C>A	c.(289-291)Ccg>Acg	p.P97T	RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000449862.2_Missense_Mutation_p.P97T|TMEM150C_ENST00000508701.1_Missense_Mutation_p.P97T			B9EJG8	T150C_HUMAN	transmembrane protein 150C	97						integral component of membrane (GO:0016021)				ovary(1)	1						TTCAGCCACGGGTTTAAAACC	0.418																																						uc003hmy.1																			0				ovary(1)	1						c.(289-291)CCG>ACG		transmembrane protein 150C							102.0	103.0	103.0					4																	83417295		1885	4111	5996	SO:0001583	missense	441027					integral to membrane		g.chr4:83417295G>T	BC147027	CCDS47087.1	4q21.22	2010-06-25			ENSG00000249242	ENSG00000249242			37263	protein-coding gene	gene with protein product							Standard	NM_001080506		Approved	FLJ12993	uc003hmy.1	B9EJG8	OTTHUMG00000161083	ENST00000515780.2:c.289C>A	4.37:g.83417295G>T	ENSP00000420919:p.Pro97Thr					TMEM150C_uc011ccj.1_Missense_Mutation_p.P127T	p.P97T	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN			6	367	-			97					B7Z4J5|B7Z4L3|B7Z692|B7Z6X6	Missense_Mutation	SNP	ENST00000515780.2	37	c.289C>A	CCDS47087.1	.	.	.	.	.	.	.	.	.	.	G	15.76	2.928544	0.52759	.	.	ENSG00000249242	ENST00000449862;ENST00000515780;ENST00000508701	T;T;T	0.40756	1.02;1.02;1.02	5.77	5.77	0.91146	.	.	.	.	.	T	0.55449	0.1921	L	0.41710	1.295	0.58432	D	0.999992	D;D	0.76494	0.999;0.999	D;D	0.71414	0.973;0.966	T	0.37526	-0.9702	9	0.16420	T	0.52	-7.307	19.9947	0.97381	0.0:0.0:1.0:0.0	.	97;97	B9EJG8-2;B9EJG8	.;T150C_HUMAN	T	97	ENSP00000403438:P97T;ENSP00000420919:P97T;ENSP00000421812:P97T	ENSP00000403438:P97T	P	-	1	0	TMEM150C	83636319	1.000000	0.71417	0.996000	0.52242	0.955000	0.61496	8.690000	0.91272	2.736000	0.93811	0.305000	0.20034	CCG		0.418	TMEM150C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363685.2	NM_001080506	
ENPEP	2028	broad.mit.edu	37	4	111430927	111430927	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:111430927G>T	ENST00000265162.5	+	5	1500	c.1158G>T	c.(1156-1158)agG>agT	p.R386S	RP11-380D23.1_ENST00000503998.1_RNA	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	386					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		ACCAACAGAGGGTGGCCACTG	0.453																																						uc003iab.3																			0				skin(3)|ovary(1)|breast(1)	5						c.(1156-1158)AGG>AGT		glutamyl aminopeptidase	L-Glutamic Acid(DB00142)						131.0	125.0	127.0					4																	111430927		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111430927G>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1158G>T	4.37:g.111430927G>T	ENSP00000265162:p.Arg386Ser						p.R386S	NM_001977	NP_001968	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	5	1500	+		Hepatocellular(203;0.217)	386			Extracellular (Potential).		Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.1158G>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.937727	0.34189	.	.	ENSG00000138792	ENST00000265162	T	0.02579	4.24	5.63	-2.87	0.05700	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.09024	0.0223	M	0.73753	2.245	0.80722	D	1	D	0.71674	0.998	D	0.63957	0.92	T	0.00079	-1.2111	10	0.38643	T	0.18	.	9.7422	0.40424	0.6806:0.0:0.2085:0.111	.	386	Q07075	AMPE_HUMAN	S	386	ENSP00000265162:R386S	ENSP00000265162:R386S	R	+	3	2	ENPEP	111650376	0.994000	0.37717	0.803000	0.32268	0.283000	0.27025	0.414000	0.21164	-1.163000	0.02793	-0.251000	0.11542	AGG		0.453	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2		
ALPK1	80216	broad.mit.edu	37	4	113353567	113353567	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:113353567G>A	ENST00000458497.1	+	11	3143	c.2864G>A	c.(2863-2865)gGg>gAg	p.G955E	ALPK1_ENST00000504176.2_Missense_Mutation_p.G877E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G955E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	955	Ser-rich.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AATTCCAGTGGGAGTTCTTGG	0.512																																						uc003iap.3																			0				ovary(5)	5						c.(2863-2865)GGG>GAG		alpha-kinase 1							77.0	75.0	76.0					4																	113353567		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113353567G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.2864G>A	4.37:g.113353567G>A	ENSP00000398048:p.Gly955Glu					ALPK1_uc003ian.3_Missense_Mutation_p.G955E|ALPK1_uc011cfx.1_Missense_Mutation_p.G877E|ALPK1_uc003iao.3_Intron|ALPK1_uc010imo.2_Missense_Mutation_p.G783E	p.G955E	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	11	3143	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	955			Ser-rich.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.2864G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	12.12	1.842460	0.32513	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.02787	4.23;4.23;4.16	5.47	4.62	0.57501	.	0.708276	0.13687	N	0.369764	T	0.09992	0.0245	M	0.65975	2.015	0.09310	N	1	D;D;D	0.59767	0.977;0.986;0.961	P;P;P	0.54060	0.73;0.741;0.541	T	0.12967	-1.0527	10	0.40728	T	0.16	-8.4902	15.0984	0.72253	0.0:0.3999:0.6001:0.0	.	877;877;955	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	E	955;955;877	ENSP00000398048:G955E;ENSP00000177648:G955E;ENSP00000426044:G877E	ENSP00000177648:G955E	G	+	2	0	ALPK1	113573016	0.555000	0.26530	0.003000	0.11579	0.165000	0.22458	2.202000	0.42743	1.282000	0.44496	-0.176000	0.13171	GGG		0.512	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144	
PPID	5481	broad.mit.edu	37	4	159638287	159638287	+	Missense_Mutation	SNP	A	A	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:159638287A>C	ENST00000307720.3	-	4	506	c.399T>G	c.(397-399)ttT>ttG	p.F133L		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	133	PPIase cyclophilin-type. {ECO:0000255|PROSITE-ProRule:PRU00156}.				apoptotic process (GO:0006915)|cellular response to UV-A (GO:0071492)|chaperone-mediated protein folding (GO:0061077)|lipid particle organization (GO:0034389)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein secretion (GO:0050714)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|protein transport (GO:0015031)|viral release from host cell (GO:0019076)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|estrogen receptor binding (GO:0030331)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|transcription factor binding (GO:0008134)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		CTGTTGTGATAAAAAACTGAG	0.403																																						uc003iqc.2																			0					0						c.(397-399)TTT>TTG		peptidylprolyl isomerase D							126.0	128.0	127.0					4																	159638287		2203	4300	6503	SO:0001583	missense	5481				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity	g.chr4:159638287A>C		CCDS3801.1	4q31.3	2013-01-10	2008-10-24		ENSG00000171497	ENSG00000171497		"""Tetratricopeptide (TTC) repeat domain containing"""	9257	protein-coding gene	gene with protein product	"""cyclophilin 40"""	601753	"""peptidylprolyl isomerase D (cyclophilin D)"""			8509368	Standard	NM_005038		Approved	CYP-40	uc003iqc.3	Q08752	OTTHUMG00000161927	ENST00000307720.3:c.399T>G	4.37:g.159638287A>C	ENSP00000303754:p.Phe133Leu						p.F133L	NM_005038	NP_005029	Q08752	PPID_HUMAN		COAD - Colon adenocarcinoma(41;0.0159)	4	511	-	all_hematologic(180;0.24)		133			PPIase cyclophilin-type.		B2R9V2	Missense_Mutation	SNP	ENST00000307720.3	37	c.399T>G	CCDS3801.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.509803	0.85282	.	.	ENSG00000171497	ENST00000307720	T	0.32515	1.45	5.1	-2.51	0.06365	Peptidyl-prolyl cis-trans isomerase, cyclophilin-type (4);Cyclophilin-like (1);	0.000000	0.44483	D	0.000457	T	0.62282	0.2415	H	0.95504	3.68	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.73291	-0.4029	10	0.87932	D	0	-19.882	13.6704	0.62420	0.4331:0.0:0.5668:0.0	.	133	Q08752	PPID_HUMAN	L	133	ENSP00000303754:F133L	ENSP00000303754:F133L	F	-	3	2	PPID	159857737	0.458000	0.25760	0.992000	0.48379	0.997000	0.91878	-0.191000	0.09601	-0.298000	0.08921	0.533000	0.62120	TTT		0.403	PPID-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366436.1	NM_005038	
TUBB7P	56604	broad.mit.edu	37	4	190903815	190903815	+	IGR	SNP	G	G	A	rs17799221	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:190903815G>A								FRG1 (19456 upstream) : RNA5SP174 (32477 downstream)																							AAGGCCTTGCGCCTGAACGTT	0.547																																						uc011clg.1																			0					0						c.(1165-1167)CGC>TGC		tubulin, beta polypeptide 4, member Q							117.0	142.0	134.0					4																	190903815		2200	4300	6500	SO:0001628	intergenic_variant	56604				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr4:190903815G>A																													4.37:g.190903815G>A							p.R389C	NM_020040	NP_064424	Q99867	TBB4Q_HUMAN		all cancers(3;4.1e-31)|Epithelial(3;1.44e-30)|OV - Ovarian serous cystadenocarcinoma(60;2.03e-15)|BRCA - Breast invasive adenocarcinoma(30;8.54e-06)|Lung(3;3.23e-05)|STAD - Stomach adenocarcinoma(60;8.24e-05)|LUSC - Lung squamous cell carcinoma(40;0.000184)|GBM - Glioblastoma multiforme(59;0.00839)|READ - Rectum adenocarcinoma(43;0.155)	4	1168	-		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	390						Missense_Mutation	SNP		37	c.1165C>T																																																																																				0	0.547								
PIK3R1	5295	broad.mit.edu	37	5	67591085	67591085	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:67591085G>C	ENST00000521381.1	+	13	2294	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H	PIK3R1_ENST00000396611.1_Missense_Mutation_p.D560H|PIK3R1_ENST00000523872.1_Missense_Mutation_p.D197H|PIK3R1_ENST00000336483.5_Missense_Mutation_p.D290H|PIK3R1_ENST00000521657.1_Missense_Mutation_p.D560H|PIK3R1_ENST00000274335.5_Missense_Mutation_p.D560H|PIK3R1_ENST00000320694.8_Missense_Mutation_p.D260H	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	560					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)|p.D560H(1)|p.D560_S565del(1)|p.R557_K561>Q(1)|p.D560Y(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TCGAGAAATTGACAAACGTAT	0.358			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												uc003jva.2				Rec	yes		5	5q13.1	5295	Mis|F|O	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			gliobastoma|ovarian|colorectal		6	Substitution - Missense(2)|Whole gene deletion(1)|Complex - deletion inframe(1)|Deletion - In frame(1)|Unknown(1)	p.D560_S565del(1)|p.R557_K561>Q(1)|p.D560Y(1)|p.?(1)	central_nervous_system(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|endometrium(1)	endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101						c.(1678-1680)GAC>CAC		phosphoinositide-3-kinase, regulatory subunit 1	Isoproterenol(DB01064)						140.0	140.0	140.0					5																	67591085		2203	4300	6503	SO:0001583	missense	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67591085G>C	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1678G>C	5.37:g.67591085G>C	ENSP00000428056:p.Asp560His	TCGA GBM(4;<1E-08)				PIK3R1_uc003jvb.2_Missense_Mutation_p.D560H|PIK3R1_uc003jvc.2_Missense_Mutation_p.D260H|PIK3R1_uc003jvd.2_Missense_Mutation_p.D290H|PIK3R1_uc003jve.2_Missense_Mutation_p.D239H|PIK3R1_uc011crb.1_Missense_Mutation_p.D230H	p.D560H	NM_181523	NP_852664	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	13	2238	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	560					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	ENST00000521381.1	37	c.1678G>C	CCDS3993.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861945	0.91433	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.66177	0.2763	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.995;0.995;0.996	T	0.71237	-0.4652	10	0.72032	D	0.01	-30.0341	18.9011	0.92443	0.0:0.0:1.0:0.0	.	230;290;260;560	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	H	560;560;560;560;260;290;197	ENSP00000428056:D560H;ENSP00000429277:D560H;ENSP00000379855:D560H;ENSP00000274335:D560H;ENSP00000323512:D260H;ENSP00000338554:D290H;ENSP00000430098:D197H	ENSP00000274335:D560H	D	+	1	0	PIK3R1	67626841	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.601000	0.98297	2.773000	0.95371	0.585000	0.79938	GAC		0.358	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504	
MCTP1	79772	broad.mit.edu	37	5	94288921	94288921	+	Splice_Site	SNP	A	A	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:94288921A>G	ENST00000515393.1	-	3	981		c.e3+1		MCTP1_ENST00000429576.2_Splice_Site|MCTP1_ENST00000312216.8_Splice_Site|MCTP1_ENST00000505208.1_Splice_Site	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1						calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TAAATGGCTCACCTTTATATA	0.363																																						uc003kkx.2																			0				ovary(2)	2						c.e3+1		multiple C2 domains, transmembrane 1 isoform L							79.0	74.0	75.0					5																	94288921		2203	4300	6503	SO:0001630	splice_region_variant	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94288921A>G		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.981+1T>C	5.37:g.94288921A>G						MCTP1_uc003kkv.2_Splice_Site_p.K106_splice|MCTP1_uc003kkw.2_Splice_Site_p.K106_splice|MCTP1_uc003kkz.2_Splice_Site	p.K327_splice	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	3	981	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)						Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Splice_Site	SNP	ENST00000515393.1	37	c.981_splice	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	A	18.48	3.632301	0.67015	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000505208;ENST00000415885;ENST00000503301;ENST00000507214;ENST00000514780;ENST00000510732	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3236	0.74141	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MCTP1	94314677	1.000000	0.71417	0.998000	0.56505	0.751000	0.42716	8.827000	0.92041	2.075000	0.62263	0.377000	0.23210	.		0.363	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	Intron
YIPF5	81555	broad.mit.edu	37	5	143540055	143540055	+	Missense_Mutation	SNP	A	A	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:143540055A>C	ENST00000274496.5	-	6	814	c.680T>G	c.(679-681)tTt>tGt	p.F227C	YIPF5_ENST00000448443.2_Missense_Mutation_p.F227C|YIPF5_ENST00000513112.1_Missense_Mutation_p.F173C	NM_001271732.1|NM_030799.7	NP_001258661.1|NP_110426.4	Q969M3	YIPF5_HUMAN	Yip1 domain family, member 5	227					protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum exit site (GO:0070971)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGCAGAAATAAATATTTTGGA	0.388																																						uc003lnk.3																			0				ovary(1)|skin(1)	2						c.(679-681)TTT>TGT		Yip1 domain family, member 5							63.0	68.0	66.0					5																	143540055		2203	4300	6503	SO:0001583	missense	81555				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane		g.chr5:143540055A>C	AF318329	CCDS4279.1, CCDS64277.1	5q31.3	2009-01-12			ENSG00000145817	ENSG00000145817		"""Yip1 domain family"""	24877	protein-coding gene	gene with protein product		611483				12975309, 18718466	Standard	NM_001024947		Approved	SMAP-5, FinGER5	uc003lnl.5	Q969M3	OTTHUMG00000129679	ENST00000274496.5:c.680T>G	5.37:g.143540055A>C	ENSP00000274496:p.Phe227Cys					YIPF5_uc003lnl.3_Missense_Mutation_p.F227C|YIPF5_uc010jgl.2_Missense_Mutation_p.F173C	p.F227C	NM_001024947	NP_001020118	Q969M3	YIPF5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		6	1121	-		all_hematologic(541;0.118)	227			Cytoplasmic (Potential).		D3DQF5|Q4VSN6|Q53EX4|Q8NHE5|Q9H338|Q9H3U4	Missense_Mutation	SNP	ENST00000274496.5	37	c.680T>G	CCDS4279.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494486	0.85069	.	.	ENSG00000145817	ENST00000274496;ENST00000377986;ENST00000448443;ENST00000513112;ENST00000519064	T;T;T	0.44881	0.91;0.91;0.91	5.61	5.61	0.85477	Yip1 domain (1);	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	M	0.93420	3.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81642	-0.0840	10	0.87932	D	0	-13.1166	15.7982	0.78428	1.0:0.0:0.0:0.0	.	227	Q969M3	YIPF5_HUMAN	C	227;227;227;173;173	ENSP00000274496:F227C;ENSP00000397704:F227C;ENSP00000425422:F173C	ENSP00000274496:F227C	F	-	2	0	YIPF5	143520248	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.245000	0.95431	2.132000	0.65825	0.533000	0.62120	TTT		0.388	YIPF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251882.1	NM_030799	
FAT2	2196	broad.mit.edu	37	5	150921921	150921921	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:150921921C>T	ENST00000261800.5	-	9	8779	c.8767G>A	c.(8767-8769)Gaa>Aaa	p.E2923K		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2923	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCACCAGTTCGCCAGGCTCA	0.512																																						uc003lue.3																			0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(8767-8769)GAA>AAA		FAT tumor suppressor 2 precursor							152.0	149.0	150.0					5																	150921921		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150921921C>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8767G>A	5.37:g.150921921C>T	ENSP00000261800:p.Glu2923Lys					GM2A_uc011dcs.1_Intron	p.E2923K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8780	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2923			Extracellular (Potential).|Cadherin 26.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.8767G>A	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830112	0.32329	.	.	ENSG00000086570	ENST00000261800	T	0.50813	0.73	6.05	4.17	0.49024	Cadherin (3);Cadherin-like (1);	0.207947	0.33610	N	0.004724	T	0.45577	0.1349	L	0.40543	1.245	0.09310	N	1	D	0.61080	0.989	P	0.51945	0.685	T	0.26950	-1.0088	10	0.27785	T	0.31	.	9.1798	0.37134	0.0967:0.6846:0.152:0.0667	.	2923	Q9NYQ8	FAT2_HUMAN	K	2923	ENSP00000261800:E2923K	ENSP00000261800:E2923K	E	-	1	0	FAT2	150902114	0.900000	0.30661	0.342000	0.25602	0.040000	0.13550	2.217000	0.42880	0.907000	0.36646	-0.813000	0.03139	GAA		0.512	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:156378745_156378747delTTG	ENST00000274532.2	-	3	511_513	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_ENST00000407087.3_In_Frame_Del_p.T152del	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	152	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537																																						uc003lwh.2																			0				ovary(2)	2						c.(454-459)ACAAGC>AGC		T-cell immunoglobulin and mucin domain																																				SO:0001651	inframe_deletion	91937					integral to membrane		g.chr5:156378745_156378747delTTG	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.455_457delCAA	5.37:g.156378754_156378756delTTG	ENSP00000274532:p.Thr152del					TIMD4_uc010jii.2_In_Frame_Del_p.T152del	p.T152del	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	512_514	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	152			Extracellular (Potential).|Thr-rich.		B5MCL9	In_Frame_Del	DEL	ENST00000274532.2	37	c.455_457delCAA	CCDS4332.1																																																																																				0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379	
BTN3A2	11118	broad.mit.edu	37	6	26373202	26373202	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:26373202G>A	ENST00000356386.2	+	6	981	c.793G>A	c.(793-795)Gga>Aga	p.G265R	BTN3A2_ENST00000508906.2_Missense_Mutation_p.G223R|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G265R|BTN3A2_ENST00000377708.2_Missense_Mutation_p.G265R|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G242R|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G265R	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	265					interferon-gamma secretion (GO:0072643)|T cell mediated immunity (GO:0002456)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GCTTCTCGCCGGAGCCAGTTA	0.542																																						uc010jqh.1																			0					0						c.(793-795)GGA>AGA		butyrophilin, subfamily 3, member A2 precursor							82.0	82.0	82.0					6																	26373202		2203	4300	6503	SO:0001583	missense	11118					integral to membrane		g.chr6:26373202G>A	U90546	CCDS4605.1, CCDS56399.1, CCDS56400.1	6p22.1	2014-01-14			ENSG00000186470	ENSG00000186470		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1139	protein-coding gene	gene with protein product		613594				9149941	Standard	NM_007047		Approved	BTN3.2	uc010jqi.2	P78410	OTTHUMG00000014450	ENST00000356386.2:c.793G>A	6.37:g.26373202G>A	ENSP00000348751:p.Gly265Arg					BTN3A2_uc003nho.1_Missense_Mutation_p.G263R|BTN3A2_uc003nhp.2_Missense_Mutation_p.G265R|BTN3A2_uc011dkd.1_Missense_Mutation_p.G223R|BTN3A2_uc011dke.1_Missense_Mutation_p.G242R|BTN3A2_uc010jqi.1_Missense_Mutation_p.G263R	p.G265R	NM_007047	NP_008978	P78410	BT3A2_HUMAN			6	1052	+			265			Helical; (Potential).		B4DRT7|B4E103|F5H791|F8W6E0|O00477|O15338|O75658|Q76PA0|Q9BU81|Q9NR44	Missense_Mutation	SNP	ENST00000356386.2	37	c.793G>A	CCDS4605.1	.	.	.	.	.	.	.	.	.	.	g	11.89	1.774192	0.31411	.	.	ENSG00000186470	ENST00000535620;ENST00000527422;ENST00000356386;ENST00000396934;ENST00000377708;ENST00000396948;ENST00000508906	T;T;T;T;T;T	0.03982	3.87;3.87;3.74;3.87;3.87;4.32	1.56	0.666	0.17901	.	.	.	.	.	T	0.07413	0.0187	M	0.76170	2.325	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.16158	-1.0412	9	0.66056	D	0.02	.	4.1462	0.10217	0.2258:0.0:0.7742:0.0	.	242;265	F8W6E0;P78410	.;BT3A2_HUMAN	R	265;265;265;242;265;265;223	ENSP00000432138:G265R;ENSP00000348751:G265R;ENSP00000380140:G242R;ENSP00000366937:G265R;ENSP00000380152:G265R;ENSP00000442687:G223R	ENSP00000348751:G265R	G	+	1	0	BTN3A2	26481181	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.185000	0.16958	0.228000	0.21019	-0.495000	0.04643	GGA		0.542	BTN3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040113.2		
PRSS35	167681	broad.mit.edu	37	6	84234218	84234218	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:84234218G>A	ENST00000369700.3	+	2	1235	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PRSS35_ENST00000536636.1_Missense_Mutation_p.R353H	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	353	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)	p.R353H(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTCTATCTGCGTCTGAAAGAT	0.512																																						uc003pjz.2																			1	Substitution - Missense(1)		large_intestine(1)	ovary(1)	1						c.(1057-1059)CGT>CAT		protease, serine, 35 precursor							85.0	85.0	85.0					6																	84234218		2203	4300	6503	SO:0001583	missense	167681				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr6:84234218G>A	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1058G>A	6.37:g.84234218G>A	ENSP00000358714:p.Arg353His					PRSS35_uc010kbm.2_Missense_Mutation_p.R353H	p.R353H	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0768)	2	1221	+		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)	353			Peptidase S1.		A8K7B3|Q9BQP6	Missense_Mutation	SNP	ENST00000369700.3	37	c.1058G>A	CCDS4999.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968301	0.92855	.	.	ENSG00000146250	ENST00000536636;ENST00000369700	T;T	0.52526	0.66;0.66	5.91	5.91	0.95273	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.169199	0.48767	D	0.000165	T	0.67896	0.2942	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.69840	-0.5036	10	0.87932	D	0	-12.7826	20.2946	0.98546	0.0:0.0:1.0:0.0	.	353	Q8N3Z0	PRS35_HUMAN	H	353	ENSP00000440870:R353H;ENSP00000358714:R353H	ENSP00000358714:R353H	R	+	2	0	PRSS35	84290937	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	9.476000	0.97823	2.804000	0.96469	0.462000	0.41574	CGT		0.512	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041352.1	NM_153362	
REPS1	85021	broad.mit.edu	37	6	139251126	139251126	+	Frame_Shift_Del	DEL	A	A	-			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:139251126delA	ENST00000450536.2	-	9	1819	c.1245delT	c.(1243-1245)aatfs	p.N415fs	REPS1_ENST00000415951.2_Frame_Shift_Del_p.N415fs|REPS1_ENST00000409812.2_Frame_Shift_Del_p.N415fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.N415fs|REPS1_ENST00000258062.5_Frame_Shift_Del_p.N415fs			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	415					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CACTGCTCTGATTCAGCTCAG	0.448																																						uc003qii.2																			0				lung(1)|breast(1)	2						c.(1243-1245)AATfs		RALBP1 associated Eps domain containing 1							175.0	150.0	158.0					6																	139251126		2203	4300	6503	SO:0001589	frameshift_variant	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139251126delA		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.1245delT	6.37:g.139251126delA	ENSP00000392065:p.Asn415fs					REPS1_uc003qig.3_Frame_Shift_Del_p.N415fs|REPS1_uc011edr.1_Frame_Shift_Del_p.N415fs|REPS1_uc003qij.2_Frame_Shift_Del_p.N415fs|REPS1_uc003qik.2_Frame_Shift_Del_p.N48fs	p.N415fs	NM_031922	NP_114128	Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	9	1824	-			415					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Frame_Shift_Del	DEL	ENST00000450536.2	37	c.1245delT																																																																																					0.448	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3		
OPRM1	4988	broad.mit.edu	37	6	154412222	154412222	+	Missense_Mutation	SNP	G	G	A	rs1799974	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:154412222G>A	ENST00000330432.7	+	3	1016	c.779G>A	c.(778-780)cGc>cAc	p.R260H	OPRM1_ENST00000229768.5_Missense_Mutation_p.R260H|OPRM1_ENST00000434900.2_Missense_Mutation_p.R353H|OPRM1_ENST00000337049.4_Missense_Mutation_p.R260H|OPRM1_ENST00000435918.2_Missense_Mutation_p.R260H|OPRM1_ENST00000518759.1_Missense_Mutation_p.R179H|OPRM1_ENST00000419506.2_Missense_Mutation_p.R260H|OPRM1_ENST00000520708.1_Missense_Mutation_p.R160H|OPRM1_ENST00000522236.1_Missense_Mutation_p.R160H|OPRM1_ENST00000414028.2_Missense_Mutation_p.R260H|OPRM1_ENST00000452687.2_Missense_Mutation_p.R260H|OPRM1_ENST00000524163.1_Missense_Mutation_p.R260H|OPRM1_ENST00000428397.2_Missense_Mutation_p.R260H|OPRM1_ENST00000522555.1_Missense_Mutation_p.R160H|OPRM1_ENST00000360422.4_Missense_Mutation_p.R260H	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	260			R -> H (rare polymorphism; dbSNP:rs1799974). {ECO:0000269|PubMed:9689128}.		adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)	p.R260H(4)|p.R353H(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	ATGATCTTGCGCCTCAAGAGT	0.502													G|||	3	0.000599042	0.0	0.0014	5008	,	,		20227	0.0		0.0	False		,,,				2504	0.002					uc003qpr.2																			6	Substitution - Missense(6)		large_intestine(6)	ovary(1)	1	GRCh37	CM016140	OPRM1	M	rs1799974	c.(778-780)CGC>CAC		opioid receptor, mu 1 isoform MOR-1	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	5,4359		0,5,2177	172.0	173.0	173.0		779,779,779,779,1058,479,536,779,779,779,779,779,479	6.0	1.0	6	dbSNP_89	173	7,8569		0,7,4281	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	OPRM1	NM_000914.3,NM_001008503.1,NM_001008504.2,NM_001008505.1,NM_001145279.2,NM_001145280.2,NM_001145281.1,NM_001145282.1,NM_001145283.1,NM_001145284.2,NM_001145285.1,NM_001145286.1,NM_001145287.1	29,29,29,29,29,29,29,29,29,29,29,29,29	0,12,6458	AA,AG,GG		0.0816,0.1146,0.0927	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	260/401,260/419,260/393,260/447,353/494,160/301,179/320,260/407,260/398,260/404,260/390,260/421,160/301	154412222	12,12928	2182	4288	6470	SO:0001583	missense	4988				behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	g.chr6:154412222G>A	L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.779G>A	6.37:g.154412222G>A	ENSP00000328264:p.Arg260His					OPRM1_uc011efc.1_Missense_Mutation_p.R179H|OPRM1_uc011efd.1_Missense_Mutation_p.R160H|OPRM1_uc011efe.1_Missense_Mutation_p.R353H|OPRM1_uc003qpn.2_Missense_Mutation_p.R260H|OPRM1_uc003qpo.1_Missense_Mutation_p.R260H|OPRM1_uc011eff.1_Missense_Mutation_p.R260H|OPRM1_uc011efg.1_Missense_Mutation_p.R260H|OPRM1_uc011efh.1_Missense_Mutation_p.R260H|OPRM1_uc003qpq.1_Missense_Mutation_p.R260H|OPRM1_uc003qpt.1_Missense_Mutation_p.R260H|OPRM1_uc011efi.1_Missense_Mutation_p.R260H|OPRM1_uc003qpp.2_RNA|OPRM1_uc003qps.2_RNA|OPRM1_uc010kjg.2_Missense_Mutation_p.R160H|OPRM1_uc003qpu.2_Missense_Mutation_p.R160H	p.R260H	NM_000914	NP_000905	P35372	OPRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	3	1016	+		Ovarian(120;0.196)	260			Cytoplasmic (Potential).		B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	c.779G>A	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	G	31	5.084463	0.94100	0.001146	8.16E-4	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.96	5.96	0.96718	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57227	0.2039	M	0.71871	2.18	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.979;1.0;1.0	T	0.58025	-0.7709	10	0.87932	D	0	.	20.4192	0.99033	0.0:0.0:1.0:0.0	rs1799974	260;260;260;260;353;179;160;260;260;260;260;260	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	H	353;160;179;260;260;260;260;260;260;260;260;260;260;160;160	ENSP00000394624:R353H;ENSP00000430876:R160H;ENSP00000430260:R179H;ENSP00000328264:R260H;ENSP00000353598:R260H;ENSP00000411903:R260H;ENSP00000410497:R260H;ENSP00000229768:R260H;ENSP00000403549:R260H;ENSP00000430097:R260H;ENSP00000399359:R260H;ENSP00000413752:R260H;ENSP00000338381:R260H;ENSP00000429719:R160H;ENSP00000429373:R160H	ENSP00000229768:R260H	R	+	2	0	OPRM1	154453915	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.831000	0.97527	0.650000	0.86243	CGC		0.502	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914	
RABGEF1	27342	broad.mit.edu	37	7	66240254	66240254	+	Missense_Mutation	SNP	A	A	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:66240254A>T	ENST00000284957.5	+	3	297	c.220A>T	c.(220-222)Agc>Tgc	p.S74C	KCTD7_ENST00000510829.2_Missense_Mutation_p.S74C|RABGEF1_ENST00000439720.2_Missense_Mutation_p.S87C|RABGEF1_ENST00000437078.2_Missense_Mutation_p.S88C|RABGEF1_ENST00000450873.2_Missense_Mutation_p.S74C|KCTD7_ENST00000451741.2_Missense_Mutation_p.S74C|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000380828.2_Missense_Mutation_p.S114C			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	252					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAGCAGTCAGAGCAGCCAAGG	0.473																																						uc011kee.1																			0				ovary(1)	1						c.(262-264)AGC>TGC		RAB guanine nucleotide exchange factor (GEF) 1							37.0	39.0	38.0					7																	66240254		2203	4297	6500	SO:0001583	missense	27342				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	g.chr7:66240254A>T	AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.220A>T	7.37:g.66240254A>T	ENSP00000284957:p.Ser74Cys					RABGEF1_uc003tvf.2_5'UTR|RABGEF1_uc003tvg.2_5'UTR|RABGEF1_uc010lag.2_Missense_Mutation_p.S74C|RABGEF1_uc003tvh.2_Missense_Mutation_p.S74C|RABGEF1_uc003tvi.2_5'UTR	p.S88C	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN			3	426	+			252			Interaction with ubiquitinated proteins.		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	c.262A>T	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	17.63	3.436799	0.62955	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000539561;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.47869	0.83;0.84;0.84;0.84;0.84;0.83;0.83	5.56	5.56	0.83823	.	0.223471	0.47852	D	0.000204	T	0.34716	0.0907	N	0.22421	0.69	0.45930	D	0.99876	P	0.35527	0.507	B	0.37091	0.241	T	0.30208	-0.9986	10	0.62326	D	0.03	-11.8038	9.4034	0.38447	0.9212:0.0:0.0788:0.0	.	88	B4DZM7	.	C	119;114;74;74;74;74;74;87;88	ENSP00000370208:S114C;ENSP00000421124:S74C;ENSP00000398177:S74C;ENSP00000284957:S74C;ENSP00000415815:S74C;ENSP00000403429:S87C;ENSP00000390480:S88C	ENSP00000370207:S119C	S	+	1	0	RABGEF1;KCTD7	65877689	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.773000	0.55333	2.115000	0.64714	0.528000	0.53228	AGC		0.473	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3	NM_014504	
PPP1R3A	5506	broad.mit.edu	37	7	113519322	113519322	+	Missense_Mutation	SNP	C	C	T	rs144397367		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:113519322C>T	ENST00000284601.3	-	4	1893	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	609					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTCCTAAAGCGCTGCCTTCA	0.403																																						uc010ljy.1																			0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1825-1827)GCT>ACT		protein phosphatase 1, regulatory (inhibitor)		C	THR/ALA	0,4406		0,0,2203	115.0	111.0	112.0		1825	-12.0	0.0	7	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPP1R3A	NM_002711.3	58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	609/1123	113519322	1,13005	2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519322C>T	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1825G>A	7.37:g.113519322C>T	ENSP00000284601:p.Ala609Thr						p.A609T	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1856	-			609					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1825G>A	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	0.059	-1.228281	0.01518	0.0	1.16E-4	ENSG00000154415	ENST00000284601	T	0.14266	2.52	6.02	-12.0	0.00017	.	2.198090	0.01457	N	0.015715	T	0.06462	0.0166	N	0.20685	0.6	0.09310	N	1	B	0.14012	0.009	B	0.04013	0.001	T	0.18903	-1.0322	10	0.10111	T	0.7	-0.5299	8.0274	0.30444	0.0614:0.3295:0.3891:0.22	.	609	Q16821	PPR3A_HUMAN	T	609	ENSP00000284601:A609T	ENSP00000284601:A609T	A	-	1	0	PPP1R3A	113306558	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.556000	0.00432	-4.519000	0.00044	-1.913000	0.00520	GCT		0.403	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	RNA	SNP	C	C	T	rs58649169	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:142479940C>T	ENST00000603901.1	+	0	72					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ATGACAAGATCGTTGGGGGCT	0.557													c|||	4427	0.883986	0.7814	0.9452	5008	,	,		10861	0.8641		0.9642	False		,,,				2504	0.9172					uc011ksq.1																			0					0						c.(70-72)ATC>ATT		SubName: Full=Protease, serine, 3; Flags: Fragment;							103.0	70.0	80.0					7																	142479940		692	1590	2282			154754							g.chr7:142479940C>T			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479940C>T						uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_RNA|uc003wan.1_Intron|TRY6_uc011kso.1_RNA|TRY6_uc011ksr.1_RNA	p.I24I	NR_001296						2	155	+									Silent	SNP	ENST00000603901.1	37	c.72C>T																																																																																					0.557	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296	
ZNF786	136051	broad.mit.edu	37	7	148769373	148769373	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:148769373C>T	ENST00000491431.1	-	4	555	c.491G>A	c.(490-492)gGa>gAa	p.G164E	ZNF786_ENST00000316286.9_Missense_Mutation_p.G78E|ZNF786_ENST00000451334.3_Missense_Mutation_p.G127E	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACCTGGGATTCCTTCTTTTAG	0.617																																						uc003wfh.2																			0				breast(3)|skin(1)	4						c.(490-492)GGA>GAA		zinc finger protein 786							36.0	40.0	38.0					7																	148769373		1891	4127	6018	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769373C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.491G>A	7.37:g.148769373C>T	ENSP00000417470:p.Gly164Glu					ZNF786_uc011kuk.1_Missense_Mutation_p.G127E|ZNF786_uc003wfi.2_Missense_Mutation_p.G78E	p.G164E	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	628	-	Melanoma(164;0.15)		164					A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.491G>A	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	0.235	-1.018147	0.02078	.	.	ENSG00000197362	ENST00000316286;ENST00000538412;ENST00000491431;ENST00000451334	T;T;T	0.07216	3.21;3.31;3.27	4.21	-3.86	0.04230	.	1.414310	0.04844	N	0.441151	T	0.02929	0.0087	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.37686	-0.9695	10	0.06891	T	0.86	1.6265	1.5189	0.02512	0.1248:0.2333:0.233:0.409	.	164	Q8N393	ZN786_HUMAN	E	78;78;164;127	ENSP00000313516:G78E;ENSP00000417470:G164E;ENSP00000404984:G127E	ENSP00000313516:G78E	G	-	2	0	ZNF786	148400306	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.892000	0.04131	-0.766000	0.04639	-0.278000	0.10074	GGA		0.617	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411	
KRBA1	84626	broad.mit.edu	37	7	149427522	149427522	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:149427522G>A	ENST00000485033.2	+	13	1827	c.1827G>A	c.(1825-1827)agG>agA	p.R609R	KRBA1_ENST00000319551.8_Silent_p.R609R|KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Silent_p.R669R			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	670	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTTAGAGAGGGACCGCCTTC	0.642																																						uc003wfz.2																			0				ovary(1)|central_nervous_system(1)	2						c.(2008-2010)AGG>AGA		KRAB A domain containing 1							64.0	67.0	66.0					7																	149427522		2109	4222	6331	SO:0001819	synonymous_variant	84626							g.chr7:149427522G>A	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.1827G>A	7.37:g.149427522G>A						KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_Silent_p.R277R	p.R670R	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		16	2409	+	Melanoma(164;0.165)|Ovarian(565;0.177)		670			Pro-rich.		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Silent	SNP	ENST00000485033.2	37	c.2010G>A																																																																																					0.642	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	NM_032534	
NSMAF	8439	broad.mit.edu	37	8	59512581	59512581	+	Splice_Site	SNP	C	C	T	rs537630331		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:59512581C>T	ENST00000038176.3	-	17	1493		c.e17-1		NSMAF_ENST00000519858.1_5'Flank|NSMAF_ENST00000427130.2_Splice_Site	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor						ceramide metabolic process (GO:0006672)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	receptor signaling protein activity (GO:0005057)|sphingomyelin phosphodiesterase activator activity (GO:0016230)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTCTGCAATACTACATATGAA	0.373																																						uc003xtt.2																			0				ovary(1)	1						c.e17-1		neutral sphingomyelinase (N-SMase) activation							102.0	101.0	101.0					8																	59512581		2203	4300	6503	SO:0001630	splice_region_variant	8439				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity	g.chr8:59512581C>T	X96586	CCDS6173.1, CCDS47864.1	8q12-q13	2013-01-10			ENSG00000035681	ENSG00000035681		"""WD repeat domain containing"""	8017	protein-coding gene	gene with protein product		603043				8808629, 10640829	Standard	NM_003580		Approved	FAN	uc011lee.2	Q92636	OTTHUMG00000164352	ENST00000038176.3:c.1281-1G>A	8.37:g.59512581C>T						NSMAF_uc011lee.1_Splice_Site_p.S458_splice	p.S427_splice	NM_003580	NP_003571	Q92636	FAN_HUMAN			17	1495	-		all_lung(136;0.174)|Lung NSC(129;0.2)						B4DFB0|E9PCH0|Q8IW26	Splice_Site	SNP	ENST00000038176.3	37	c.1281_splice	CCDS6173.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379985	0.82682	.	.	ENSG00000035681	ENST00000038176;ENST00000427130	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NSMAF	59675135	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.568000	0.82369	2.941000	0.99782	0.655000	0.94253	.		0.373	NSMAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378384.1	NM_003580	Intron
PKHD1L1	93035	broad.mit.edu	37	8	110497284	110497284	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:110497284G>A	ENST00000378402.5	+	58	9692	c.9588G>A	c.(9586-9588)gaG>gaA	p.E3196E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3196					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGGAGAAGAGATTGTGATAA	0.284										HNSCC(38;0.096)																												uc003yne.2																			0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(9586-9588)GAG>GAA		fibrocystin L precursor							66.0	62.0	63.0					8																	110497284		1814	4063	5877	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110497284G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9588G>A	8.37:g.110497284G>A		HNSCC(38;0.096)					p.E3196E	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		58	9692	+			3196			Extracellular (Potential).		Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.9588G>A	CCDS47911.1																																																																																				0.284	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
TRPS1	7227	broad.mit.edu	37	8	116426785	116426785	+	Missense_Mutation	SNP	G	G	T	rs145393309		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:116426785G>T	ENST00000220888.5	-	6	3471	c.3312C>A	c.(3310-3312)ttC>ttA	p.F1104L	TRPS1_ENST00000519076.1_Missense_Mutation_p.F858L|TRPS1_ENST00000395715.3_Missense_Mutation_p.F1117L|TRPS1_ENST00000520276.1_Missense_Mutation_p.F1108L			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1104	Mediates interaction with RNF4. {ECO:0000250}.				chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.F1104F(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTCACTCTGGAAGTCATTAT	0.473									Langer-Giedion syndrome																													uc003ynz.2																			1	Substitution - coding silent(1)	p.F1104F(1)	skin(1)	ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1)	7						c.(3310-3312)TTC>TTA		zinc finger transcription factor TRPS1							109.0	105.0	106.0					8																	116426785		1894	4120	6014	SO:0001583	missense	7227	Langer-Giedion_syndrome	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:116426785G>T	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.3312C>A	8.37:g.116426785G>T	ENSP00000220888:p.Phe1104Leu					TRPS1_uc011lhy.1_Missense_Mutation_p.F1108L|TRPS1_uc003yny.2_Missense_Mutation_p.F1117L|TRPS1_uc010mcy.2_Missense_Mutation_p.F1104L	p.F1104L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)		6	3771	-	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		1104			Mediates interaction with RNF4 (By similarity).		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation	SNP	ENST00000220888.5	37	c.3312C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.352|8.352	0.831025|0.831025	0.16820|0.16820	.|.	.|.	ENSG00000104447|ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000519076;ENST00000520276|ENST00000518018	D;D;D;D|.	0.97752|.	-4.52;-4.49;-4.42;-4.49|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.057867|.	0.64402|.	D|.	0.000001|.	T|T	0.35913|0.35913	0.0948|0.0948	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.19200|.	0.034;0.02;0.034|.	B;B;B|.	0.16289|.	0.015;0.007;0.015|.	T|T	0.24119|0.24119	-1.0169|-1.0169	10|5	0.33141|.	T|.	0.24|.	-0.0088|-0.0088	10.8912|10.8912	0.46996|0.46996	0.1135:0.0:0.8865:0.0|0.1135:0.0:0.8865:0.0	.|.	1108;1104;1117|.	Q9UHF7-3;Q9UHF7;Q9UHF7-2|.	.;TRPS1_HUMAN;.|.	L|T	1117;1104;858;1108|229	ENSP00000379065:F1117L;ENSP00000220888:F1104L;ENSP00000428910:F858L;ENSP00000428680:F1108L|.	ENSP00000220888:F1104L|.	F|P	-|-	3|1	2|0	TRPS1|TRPS1	116495961|116495961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.912000|2.912000	0.48782|0.48782	2.685000|2.685000	0.91497|0.91497	0.655000|0.655000	0.94253|0.94253	TTC|CCA		0.473	TRPS1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000286436.3	NM_014112	
COL14A1	7373	broad.mit.edu	37	8	121293282	121293282	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:121293282G>A	ENST00000297848.3	+	31	4078	c.3808G>A	c.(3808-3810)Gtt>Att	p.V1270I	COL14A1_ENST00000247781.3_Missense_Mutation_p.V1175I|COL14A1_ENST00000309791.4_Missense_Mutation_p.V1270I	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGATGCCCTGGTTTCCCAGCC	0.378																																						uc003yox.2																			0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(3808-3810)GTT>ATT		collagen, type XIV, alpha 1 precursor							89.0	94.0	92.0					8																	121293282		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121293282G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.3808G>A	8.37:g.121293282G>A	ENSP00000297848:p.Val1270Ile					COL14A1_uc003yoz.2_Missense_Mutation_p.V235I	p.V1270I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		31	4073	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		1270			Nonhelical region (NC4).|TSP N-terminal.			Missense_Mutation	SNP	ENST00000297848.3	37	c.3808G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.743981	0.49151	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781	T;T;T	0.16324	2.35;2.35;2.35	5.9	5.9	0.94986	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.183263	0.47093	D	0.000257	T	0.15825	0.0381	L	0.43923	1.385	0.80722	D	1	P	0.40083	0.702	B	0.36092	0.217	T	0.03739	-1.1008	10	0.22109	T	0.4	.	15.7118	0.77635	0.0:0.136:0.864:0.0	.	1270	Q05707	COEA1_HUMAN	I	1270;1270;1175	ENSP00000311809:V1270I;ENSP00000297848:V1270I;ENSP00000247781:V1175I	ENSP00000247781:V1175I	V	+	1	0	COL14A1	121362463	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	1.137000	0.31479	2.802000	0.96397	0.650000	0.86243	GTT		0.378	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110	
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	RNA	SNP	A	A	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr9:141071110A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597																																						uc004com.2																			7	Substitution - coding silent(7)		kidney(3)|prostate(2)|endometrium(2)		0						c.(511-513)CCA>CCG		RecName: Full=Putative tubulin beta-4q chain;																																						643224							g.chr9:141071110A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071110A>G						TUBBP5_uc010ncq.2_3'UTR	p.P171P							4	774	+									Silent	SNP	ENST00000503395.1	37	c.513A>G																																																																																					0.597	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
POLA1	5422	broad.mit.edu	37	X	24766501	24766501	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:24766501G>A	ENST00000379059.3	+	25	2762	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q	POLA1_ENST00000379068.3_Missense_Mutation_p.R922Q	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	916					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)	p.R916Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	AGAGAGATCCGGAAACTGGTA	0.398																																						uc004dbl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2746-2748)CGG>CAG		DNA-directed DNA polymerase alpha 1	Clofarabine(DB00631)|Fludarabine(DB01073)						105.0	94.0	97.0					X																	24766501		2203	4300	6503	SO:0001583	missense	5422				cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	g.chrX:24766501G>A		CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.2747G>A	X.37:g.24766501G>A	ENSP00000368349:p.Arg916Gln						p.R916Q	NM_016937	NP_058633	P09884	DPOLA_HUMAN			25	2770	+			916					Q86UQ7	Missense_Mutation	SNP	ENST00000379059.3	37	c.2747G>A	CCDS14214.1	.	.	.	.	.	.	.	.	.	.	G	32	5.192524	0.94960	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	T;T	0.17370	2.28;2.28	4.96	4.96	0.65561	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.053916	0.64402	D	0.000001	T	0.37376	0.1001	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.02668	-1.1126	10	0.36615	T	0.2	-2.7913	17.2332	0.86990	0.0:0.0:1.0:0.0	.	916	P09884	DPOLA_HUMAN	Q	922;916	ENSP00000368358:R922Q;ENSP00000368349:R916Q	ENSP00000368349:R916Q	R	+	2	0	POLA1	24676422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.114000	0.71560	2.438000	0.82558	0.600000	0.82982	CGG		0.398	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937	
MAGEB2	4113	broad.mit.edu	37	X	30236767	30236767	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:30236767G>T	ENST00000378988.4	+	2	171	c.70G>T	c.(70-72)Ggt>Tgt	p.G24C		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	24										breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGAGACCCGGGGTCTCAATGT	0.577																																						uc004dbz.2																			0				ovary(1)	1						c.(70-72)GGT>TGT		melanoma antigen family B, 2							37.0	36.0	36.0					X																	30236767		2202	4300	6502	SO:0001583	missense	4113						protein binding	g.chrX:30236767G>T	AF015766	CCDS14219.1	Xp21.3	2009-03-17			ENSG00000099399	ENSG00000099399			6809	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 6"", ""melanoma-associated antigen B2"", ""cancer/testis antigen family 3, member 2"""	300098				9441743	Standard	NM_002364		Approved	DAM6, MAGE-XP-2, MGC26438, CT3.2	uc004dbz.3	O15479	OTTHUMG00000021319	ENST00000378988.4:c.70G>T	X.37:g.30236767G>T	ENSP00000368273:p.Gly24Cys						p.G24C	NM_002364	NP_002355	O15479	MAGB2_HUMAN			2	173	+			24					O75860	Missense_Mutation	SNP	ENST00000378988.4	37	c.70G>T	CCDS14219.1	.	.	.	.	.	.	.	.	.	.	g	8.010	0.757244	0.15846	.	.	ENSG00000099399	ENST00000378988	T	0.06528	3.29	3.43	-3.83	0.04269	Melanoma associated antigen, MAGE, N-terminal (1);	1.474270	0.03896	N	0.279544	T	0.08133	0.0203	L	0.56280	1.765	0.09310	N	1	P	0.38455	0.632	B	0.38500	0.275	T	0.27773	-1.0064	10	0.56958	D	0.05	.	6.1918	0.20528	0.6045:0.149:0.2465:0.0	.	24	O15479	MAGB2_HUMAN	C	24	ENSP00000368273:G24C	ENSP00000368273:G24C	G	+	1	0	MAGEB2	30146688	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.686000	0.05161	-1.295000	0.02357	-1.110000	0.02074	GGT		0.577	MAGEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056157.1	NM_002364	
MAGEB4	4115	broad.mit.edu	37	X	30260607	30260607	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:30260607T>A	ENST00000378982.2	+	1	551	c.355T>A	c.(355-357)Ttc>Atc	p.F119I	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	119	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GTTAGTGCAGTTCCTGCTGTA	0.443																																						uc004dcb.2																			0				ovary(1)	1						c.(355-357)TTC>ATC		melanoma antigen family B, 4							55.0	41.0	46.0					X																	30260607		2202	4300	6502	SO:0001583	missense	4115							g.chrX:30260607T>A		CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.355T>A	X.37:g.30260607T>A	ENSP00000368266:p.Phe119Ile					MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank	p.F119I	NM_002367	NP_002358	O15481	MAGB4_HUMAN			1	439	+			119			MAGE.		B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	c.355T>A	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	T	17.15	3.316514	0.60524	.	.	ENSG00000120289	ENST00000378982	T	0.07114	3.22	3.19	2.03	0.26663	.	0.346031	0.25925	U	0.027408	T	0.26810	0.0656	H	0.95884	3.735	0.09310	N	1	P	0.47910	0.902	P	0.53035	0.716	T	0.18241	-1.0343	10	0.72032	D	0.01	.	4.2235	0.10570	0.0:0.1645:0.0:0.8355	.	119	O15481	MAGB4_HUMAN	I	119	ENSP00000368266:F119I	ENSP00000368266:F119I	F	+	1	0	MAGEB4	30170528	0.001000	0.12720	0.001000	0.08648	0.325000	0.28411	0.699000	0.25586	0.476000	0.27440	0.441000	0.28932	TTC		0.443	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367	
DMD	1756	broad.mit.edu	37	X	32404521	32404521	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:32404521C>T	ENST00000357033.4	-	33	4786	c.4580G>A	c.(4579-4581)cGt>cAt	p.R1527H	DMD_ENST00000378677.2_Missense_Mutation_p.R1523H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1527	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACAATCTGACGTCCAGTCTT	0.353																																						uc004dda.1																			0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(4579-4581)CGT>CAT		dystrophin Dp427m isoform							193.0	162.0	172.0					X																	32404521		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32404521C>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.4580G>A	X.37:g.32404521C>T	ENSP00000354923:p.Arg1527His					DMD_uc004dcw.2_Missense_Mutation_p.R183H|DMD_uc004dcx.2_Missense_Mutation_p.R186H|DMD_uc004dcz.2_Missense_Mutation_p.R1404H|DMD_uc004dcy.1_Missense_Mutation_p.R1523H|DMD_uc004ddb.1_Missense_Mutation_p.R1519H|DMD_uc010ngo.1_Intron	p.R1527H	NM_004006	NP_003997	P11532	DMD_HUMAN			33	4824	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	1527			Spectrin 10.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.4580G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	33	5.241921	0.95272	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.35789	1.29;1.29	5.47	5.47	0.80525	.	0.000000	0.32868	U	0.005544	T	0.65523	0.2699	M	0.82630	2.6	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.999;0.996;0.996;0.996	T	0.70988	-0.4722	10	0.72032	D	0.01	.	18.4171	0.90574	0.0:1.0:0.0:0.0	.	1519;1527;1523;186;183	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	H	1519;186;183;1523;1527;1527;1404	ENSP00000367948:R1523H;ENSP00000354923:R1527H	ENSP00000354923:R1527H	R	-	2	0	DMD	32314442	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.818000	0.86416	2.289000	0.77006	0.600000	0.82982	CGT		0.353	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
OTC	5009	broad.mit.edu	37	X	38260580	38260580	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:38260580G>A	ENST00000039007.4	+	5	591	c.439G>A	c.(439-441)Gat>Aat	p.D147N	OTC_ENST00000488812.1_3'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	147					ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TAAACAATCAGATTTGGACAC	0.408																																						uc004def.3																			0				ovary(1)|breast(1)	2						c.(439-441)GAT>AAT		ornithine carbamoyltransferase precursor	L-Citrulline(DB00155)|L-Ornithine(DB00129)						117.0	87.0	97.0					X																	38260580		2202	4300	6502	SO:0001583	missense	5009				arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity	g.chrX:38260580G>A	K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.439G>A	X.37:g.38260580G>A	ENSP00000039007:p.Asp147Asn						p.D147N	NM_000531	NP_000522	P00480	OTC_HUMAN			5	653	+			147					A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	ENST00000039007.4	37	c.439G>A	CCDS14247.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443663	0.83993	.	.	ENSG00000036473	ENST00000039007	D	0.99005	-5.32	5.97	5.97	0.96955	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.139486	0.64402	D	0.000004	D	0.99124	0.9698	M	0.77616	2.38	0.50171	D	0.999857	D	0.61697	0.99	P	0.59948	0.866	D	0.99716	1.1008	10	0.42905	T	0.14	1.8577	19.371	0.94484	0.0:0.0:1.0:0.0	.	147	P00480	OTC_HUMAN	N	147	ENSP00000039007:D147N	ENSP00000039007:D147N	D	+	1	0	OTC	38145524	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.968000	0.70413	2.527000	0.85204	0.600000	0.82982	GAT		0.408	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059006.2		
MAGED1	9500	broad.mit.edu	37	X	51640084	51640084	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:51640084T>A	ENST00000375722.1	+	4	1585	c.1333T>A	c.(1333-1335)Tcg>Acg	p.S445T	MAGED1_ENST00000326587.7_Missense_Mutation_p.S445T|MAGED1_ENST00000375772.3_Missense_Mutation_p.S445T|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.S501T			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	445	Pro-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTGCGCCCCTCGCCTAACCT	0.602										Multiple Myeloma(10;0.10)																												uc004dpm.2																			0				ovary(3)	3						c.(1333-1335)TCG>ACG		melanoma antigen family D, 1 isoform b							42.0	27.0	32.0					X																	51640084		2203	4300	6503	SO:0001583	missense	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51640084T>A	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.1333T>A	X.37:g.51640084T>A	ENSP00000364874:p.Ser445Thr	Multiple Myeloma(10;0.10)				MAGED1_uc004dpn.2_Missense_Mutation_p.S501T|MAGED1_uc004dpo.2_Missense_Mutation_p.S445T	p.S445T	NM_001005332	NP_001005332	Q9Y5V3	MAGD1_HUMAN			4	1428	+	Ovarian(276;0.236)		445			Pro-rich.		Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	ENST00000375722.1	37	c.1333T>A	CCDS14337.1	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446642	0.25987	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695	T;T;T;T	0.56444	0.46;0.46;0.46;0.46	3.95	2.8	0.32819	.	0.000000	0.29646	N	0.011563	T	0.45915	0.1366	L	0.38175	1.15	0.25676	N	0.985844	D;P	0.61697	0.99;0.915	P;B	0.52957	0.714;0.441	T	0.26538	-1.0100	10	0.37606	T	0.19	.	4.0169	0.09647	0.0:0.2701:0.0:0.7299	.	501;445	Q9Y5V3-2;Q9Y5V3	.;MAGD1_HUMAN	T	445;445;445;501	ENSP00000364927:S445T;ENSP00000364874:S445T;ENSP00000325333:S445T;ENSP00000364847:S501T	ENSP00000325333:S445T	S	+	1	0	MAGED1	51656824	0.122000	0.22280	0.998000	0.56505	0.673000	0.39480	1.778000	0.38614	1.536000	0.49237	0.235000	0.17854	TCG		0.602	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332	
CDX4	1046	broad.mit.edu	37	X	72667161	72667161	+	Silent	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:72667161C>T	ENST00000373514.2	+	1	72	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	24					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CTGGGGGCGACGGCACAGCTG	0.612																																						uc011mqk.1																			0					0						c.(70-72)GAC>GAT		caudal type homeobox 4							35.0	34.0	34.0					X																	72667161		2203	4300	6503	SO:0001819	synonymous_variant	1046					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:72667161C>T	AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.72C>T	X.37:g.72667161C>T							p.D24D	NM_005193	NP_005184	O14627	CDX4_HUMAN			1	72	+	Renal(35;0.156)		24					A1A513|Q5JS20	Silent	SNP	ENST00000373514.2	37	c.72C>T	CCDS14424.1																																																																																				0.612	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057229.2	NM_005193	
PCDH19	57526	broad.mit.edu	37	X	99662512	99662512	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:99662512C>T	ENST00000373034.4	-	1	2759	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T	PCDH19_ENST00000420881.2_Missense_Mutation_p.A362T|PCDH19_ENST00000255531.7_Missense_Mutation_p.A362T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	362	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCCGGGGGGGCGCTCTCGCTG	0.607																																						uc010nmz.2																			0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1084-1086)GCC>ACC		protocadherin 19 isoform b							43.0	47.0	46.0					X																	99662512		2191	4269	6460	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99662512C>T	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1084G>A	X.37:g.99662512C>T	ENSP00000362125:p.Ala362Thr					PCDH19_uc004efw.3_Missense_Mutation_p.A362T|PCDH19_uc004efx.3_Missense_Mutation_p.A362T	p.A362T	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	2760	-			362			Cadherin 4.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1084G>A	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736136	0.89482	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.55413	0.52;0.52;0.52	5.95	5.95	0.96441	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.69566	0.3125	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.983;0.99	T	0.69109	-0.5232	10	0.54805	T	0.06	.	19.254	0.93938	0.0:1.0:0.0:0.0	.	362;362;362	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	T	362	ENSP00000400327:A362T;ENSP00000362125:A362T;ENSP00000255531:A362T	ENSP00000255531:A362T	A	-	1	0	PCDH19	99549168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.033000	0.70925	2.498000	0.84270	0.513000	0.50165	GCC		0.607	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
DDX26B	203522	broad.mit.edu	37	X	134681139	134681139	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:134681139G>A	ENST00000370752.4	+	6	1025	c.691G>A	c.(691-693)Gta>Ata	p.V231I	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	231										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTGGTGTAGTTATTAA	0.338																																						uc004eyw.3																			0					0						c.(691-693)GTA>ATA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							135.0	137.0	137.0					X																	134681139		2203	4298	6501	SO:0001583	missense	203522							g.chrX:134681139G>A	AK096544	CCDS35401.1	Xq26	2008-02-05			ENSG00000165359	ENSG00000165359		"""DEAD-boxes"""	27334	protein-coding gene	gene with protein product							Standard	NM_182540		Approved	FLJ41215	uc004eyw.4	Q5JSJ4	OTTHUMG00000022484	ENST00000370752.4:c.691G>A	X.37:g.134681139G>A	ENSP00000359788:p.Val231Ile						p.V231I	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN			6	1054	+	Acute lymphoblastic leukemia(192;6.56e-05)		231					Q5CZA2|Q6IPS3|Q6ZTU5|Q6ZWE4	Missense_Mutation	SNP	ENST00000370752.4	37	c.691G>A	CCDS35401.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.882961	0.72410	.	.	ENSG00000165359	ENST00000370752	T	0.37752	1.18	5.42	5.42	0.78866	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	T	0.48768	0.1518	L	0.54965	1.715	0.80722	D	1	D	0.60575	0.988	P	0.54401	0.751	T	0.41305	-0.9516	10	0.39692	T	0.17	-4.3966	17.2255	0.86969	0.0:0.0:1.0:0.0	.	231	Q5JSJ4	DX26B_HUMAN	I	231	ENSP00000359788:V231I	ENSP00000359788:V231I	V	+	1	0	DDX26B	134508805	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.796000	0.99103	2.278000	0.76064	0.529000	0.55759	GTA		0.338	DDX26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058420.1	NM_182540	
CSAG1	158511	broad.mit.edu	37	X	151908921	151908921	+	Missense_Mutation	SNP	C	C	A	rs367758915		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:151908921C>A	ENST00000370287.3	+	4	488	c.160C>A	c.(160-162)Cca>Aca	p.P54T	CSAG1_ENST00000452779.2_Missense_Mutation_p.P54T|CSAG1_ENST00000370291.2_Missense_Mutation_p.P54T	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	54										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CCCATCAACACCAAAGAGGCG	0.557																																						uc004fge.2																			0				ovary(1)	1						c.(160-162)CCA>ACA		chondrosarcoma associated gene 1 precursor		C	THR/PRO,THR/PRO	0,3835		0,0,0,1632,571	225.0	207.0	213.0		160,160	0.8	0.0	X		213	1,6727		0,0,1,2428,1871	no	missense,missense	CSAG1	NM_001102576.1,NM_153478.1	38,38	0,0,1,4060,2442	AA,AC,A,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging	54/79,54/79	151908921	1,10562	2203	4300	6503	SO:0001583	missense	158511							g.chrX:151908921C>A	AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"""cancer/testis antigen family 24, member 1"""					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	ENST00000370287.3:c.160C>A	X.37:g.151908921C>A	ENSP00000359310:p.Pro54Thr					CSAG1_uc004fgf.2_Missense_Mutation_p.P54T|CSAG1_uc004fgd.2_RNA	p.P54T	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN			4	488	+	Acute lymphoblastic leukemia(192;6.56e-05)		54					A6NE22	Missense_Mutation	SNP	ENST00000370287.3	37	c.160C>A	CCDS14711.1	.	.	.	.	.	.	.	.	.	.	C	5.910	0.351891	0.11182	0.0	1.49E-4	ENSG00000198930	ENST00000370287;ENST00000452779;ENST00000370291	T;T;T	0.61859	1.35;1.35;0.07	0.837	0.837	0.18896	.	.	.	.	.	T	0.62060	0.2397	.	.	.	0.09310	N	1	D	0.65815	0.995	P	0.54889	0.763	T	0.52540	-0.8562	7	0.87932	D	0	.	.	.	.	.	54	Q6PB30	CSAG1_HUMAN	T	54	ENSP00000359310:P54T;ENSP00000396520:P54T;ENSP00000359314:P54T	ENSP00000359310:P54T	P	+	1	0	CSAG1	151659577	0.017000	0.18338	0.004000	0.12327	0.004000	0.04260	0.615000	0.24329	0.689000	0.31550	0.179000	0.17066	CCA		0.557	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058760.2	NM_153479	
G6PD	2539	broad.mit.edu	37	X	153760436	153760436	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:153760436T>C	ENST00000393564.2	-	12	1536	c.1424A>G	c.(1423-1425)gAg>gGg	p.E475G	G6PD_ENST00000393562.2_Missense_Mutation_p.E505G|G6PD_ENST00000369620.2_Missense_Mutation_p.E521G|G6PD_ENST00000497281.1_5'Flank	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	475					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGGGCTTCTCCAGCTCAAT	0.627																																						uc004fly.1																			0				ovary(4)	4						c.(1423-1425)GAG>GGG		glucose-6-phosphate dehydrogenase isoform b							34.0	32.0	33.0					X																	153760436		2203	4299	6502	SO:0001583	missense	2539				cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity	g.chrX:153760436T>C	X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1424A>G	X.37:g.153760436T>C	ENSP00000377194:p.Glu475Gly					G6PD_uc004flx.1_Missense_Mutation_p.E505G	p.E475G	NM_001042351	NP_001035810	P11413	G6PD_HUMAN			12	1537	-	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		475					D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	c.1424A>G	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	T	4.496	0.091993	0.08632	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.99830	-7.01;-7.01;-7.01	5.7	5.7	0.88788	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.057718	0.64402	D	0.000003	D	0.98626	0.9540	N	0.20986	0.625	0.58432	D	0.999992	B;B	0.06786	0.0;0.001	B;B	0.09377	0.004;0.004	D	0.99983	1.2801	10	0.17832	T	0.49	.	11.2102	0.48793	0.0:0.0:0.0:1.0	.	475;505	P11413;P11413-3	G6PD_HUMAN;.	G	505;475;475;521	ENSP00000377192:E505G;ENSP00000377194:E475G;ENSP00000358633:E521G	ENSP00000291567:E475G	E	-	2	0	G6PD	153413630	0.989000	0.36119	0.053000	0.19242	0.072000	0.16883	3.693000	0.54735	1.919000	0.55581	0.483000	0.47432	GAG		0.627	G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402	
